Incidental Mutation 'R1523:Cacna1g'
ID 167656
Institutional Source Beutler Lab
Gene Symbol Cacna1g
Ensembl Gene ENSMUSG00000020866
Gene Name calcium channel, voltage-dependent, T type, alpha 1G subunit
Synonyms a1G, Cav3.1d
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.450) question?
Stock # R1523 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 94299217-94365024 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 94333555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021234] [ENSMUST00000021234] [ENSMUST00000100561] [ENSMUST00000100561] [ENSMUST00000103166] [ENSMUST00000103166] [ENSMUST00000107785] [ENSMUST00000107785] [ENSMUST00000107786] [ENSMUST00000107786] [ENSMUST00000107788] [ENSMUST00000107788] [ENSMUST00000107789] [ENSMUST00000107789] [ENSMUST00000107792] [ENSMUST00000107792] [ENSMUST00000107791] [ENSMUST00000107791] [ENSMUST00000107793] [ENSMUST00000107793] [ENSMUST00000107790] [ENSMUST00000107790]
AlphaFold Q5SUF7
Predicted Effect probably null
Transcript: ENSMUST00000021234
SMART Domains Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 9.2e-66 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 7.9e-46 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 3e-55 PFAM
coiled coil region 1519 1559 N/A INTRINSIC
low complexity region 1562 1573 N/A INTRINSIC
Pfam:Ion_trans 1630 1835 3e-49 PFAM
Pfam:PKD_channel 1688 1842 7.8e-11 PFAM
low complexity region 2180 2211 N/A INTRINSIC
low complexity region 2230 2246 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000021234
SMART Domains Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 9.2e-66 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 7.9e-46 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 3e-55 PFAM
coiled coil region 1519 1559 N/A INTRINSIC
low complexity region 1562 1573 N/A INTRINSIC
Pfam:Ion_trans 1630 1835 3e-49 PFAM
Pfam:PKD_channel 1688 1842 7.8e-11 PFAM
low complexity region 2180 2211 N/A INTRINSIC
low complexity region 2230 2246 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000100561
SMART Domains Protein: ENSMUSP00000098127
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6.1e-55 PFAM
coiled coil region 1542 1582 N/A INTRINSIC
low complexity region 1585 1596 N/A INTRINSIC
Pfam:Ion_trans 1653 1858 6.2e-49 PFAM
Pfam:PKD_channel 1711 1865 1.4e-10 PFAM
low complexity region 2203 2234 N/A INTRINSIC
low complexity region 2253 2269 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000100561
SMART Domains Protein: ENSMUSP00000098127
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6.1e-55 PFAM
coiled coil region 1542 1582 N/A INTRINSIC
low complexity region 1585 1596 N/A INTRINSIC
Pfam:Ion_trans 1653 1858 6.2e-49 PFAM
Pfam:PKD_channel 1711 1865 1.4e-10 PFAM
low complexity region 2203 2234 N/A INTRINSIC
low complexity region 2253 2269 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000103166
SMART Domains Protein: ENSMUSP00000099455
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6.1e-55 PFAM
SCOP:d1g2qa_ 1545 1589 6e-3 SMART
Pfam:Ion_trans 1646 1851 6.2e-49 PFAM
Pfam:PKD_channel 1704 1858 1.4e-10 PFAM
low complexity region 2196 2227 N/A INTRINSIC
low complexity region 2246 2262 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000103166
SMART Domains Protein: ENSMUSP00000099455
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6.1e-55 PFAM
SCOP:d1g2qa_ 1545 1589 6e-3 SMART
Pfam:Ion_trans 1646 1851 6.2e-49 PFAM
Pfam:PKD_channel 1704 1858 1.4e-10 PFAM
low complexity region 2196 2227 N/A INTRINSIC
low complexity region 2246 2262 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107785
SMART Domains Protein: ENSMUSP00000103414
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.8e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.5e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 5.7e-55 PFAM
coiled coil region 1519 1558 N/A INTRINSIC
Pfam:Ion_trans 1612 1817 5.8e-49 PFAM
Pfam:PKD_channel 1670 1824 1.4e-10 PFAM
low complexity region 2027 2042 N/A INTRINSIC
low complexity region 2084 2115 N/A INTRINSIC
low complexity region 2134 2150 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107785
SMART Domains Protein: ENSMUSP00000103414
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.8e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.5e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 5.7e-55 PFAM
coiled coil region 1519 1558 N/A INTRINSIC
Pfam:Ion_trans 1612 1817 5.8e-49 PFAM
Pfam:PKD_channel 1670 1824 1.4e-10 PFAM
low complexity region 2027 2042 N/A INTRINSIC
low complexity region 2084 2115 N/A INTRINSIC
low complexity region 2134 2150 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107786
SMART Domains Protein: ENSMUSP00000103415
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 383 4e-60 PFAM
low complexity region 466 490 N/A INTRINSIC
low complexity region 518 530 N/A INTRINSIC
Pfam:Ion_trans 760 946 1.6e-45 PFAM
low complexity region 1023 1034 N/A INTRINSIC
low complexity region 1046 1073 N/A INTRINSIC
low complexity region 1094 1110 N/A INTRINSIC
low complexity region 1176 1187 N/A INTRINSIC
Pfam:Ion_trans 1273 1497 5.9e-55 PFAM
SCOP:d1g2qa_ 1505 1549 6e-3 SMART
Pfam:Ion_trans 1606 1811 6e-49 PFAM
Pfam:PKD_channel 1664 1818 1.4e-10 PFAM
low complexity region 2156 2187 N/A INTRINSIC
low complexity region 2206 2222 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107786
SMART Domains Protein: ENSMUSP00000103415
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 383 4e-60 PFAM
low complexity region 466 490 N/A INTRINSIC
low complexity region 518 530 N/A INTRINSIC
Pfam:Ion_trans 760 946 1.6e-45 PFAM
low complexity region 1023 1034 N/A INTRINSIC
low complexity region 1046 1073 N/A INTRINSIC
low complexity region 1094 1110 N/A INTRINSIC
low complexity region 1176 1187 N/A INTRINSIC
Pfam:Ion_trans 1273 1497 5.9e-55 PFAM
SCOP:d1g2qa_ 1505 1549 6e-3 SMART
Pfam:Ion_trans 1606 1811 6e-49 PFAM
Pfam:PKD_channel 1664 1818 1.4e-10 PFAM
low complexity region 2156 2187 N/A INTRINSIC
low complexity region 2206 2222 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107788
SMART Domains Protein: ENSMUSP00000103417
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6e-55 PFAM
coiled coil region 1542 1574 N/A INTRINSIC
Pfam:Ion_trans 1628 1833 6.1e-49 PFAM
Pfam:PKD_channel 1686 1840 1.4e-10 PFAM
low complexity region 2178 2209 N/A INTRINSIC
low complexity region 2228 2244 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107788
SMART Domains Protein: ENSMUSP00000103417
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6e-55 PFAM
coiled coil region 1542 1574 N/A INTRINSIC
Pfam:Ion_trans 1628 1833 6.1e-49 PFAM
Pfam:PKD_channel 1686 1840 1.4e-10 PFAM
low complexity region 2178 2209 N/A INTRINSIC
low complexity region 2228 2244 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107789
SMART Domains Protein: ENSMUSP00000103418
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 80 406 1.6e-76 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 742 972 3.4e-56 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1276 1549 1.5e-61 PFAM
low complexity region 1578 1589 N/A INTRINSIC
Pfam:Ion_trans 1611 1863 2.1e-56 PFAM
Pfam:PKD_channel 1703 1858 3.4e-9 PFAM
low complexity region 2289 2320 N/A INTRINSIC
low complexity region 2339 2355 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107789
SMART Domains Protein: ENSMUSP00000103418
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 80 406 1.6e-76 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 742 972 3.4e-56 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1276 1549 1.5e-61 PFAM
low complexity region 1578 1589 N/A INTRINSIC
Pfam:Ion_trans 1611 1863 2.1e-56 PFAM
Pfam:PKD_channel 1703 1858 3.4e-9 PFAM
low complexity region 2289 2320 N/A INTRINSIC
low complexity region 2339 2355 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107792
SMART Domains Protein: ENSMUSP00000103421
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.8e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 5.9e-55 PFAM
coiled coil region 1519 1551 N/A INTRINSIC
Pfam:Ion_trans 1605 1810 6e-49 PFAM
Pfam:PKD_channel 1663 1817 1.4e-10 PFAM
low complexity region 2155 2186 N/A INTRINSIC
low complexity region 2205 2221 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107792
SMART Domains Protein: ENSMUSP00000103421
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.8e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 5.9e-55 PFAM
coiled coil region 1519 1551 N/A INTRINSIC
Pfam:Ion_trans 1605 1810 6e-49 PFAM
Pfam:PKD_channel 1663 1817 1.4e-10 PFAM
low complexity region 2155 2186 N/A INTRINSIC
low complexity region 2205 2221 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107791
SMART Domains Protein: ENSMUSP00000103420
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.8e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 6e-55 PFAM
coiled coil region 1519 1558 N/A INTRINSIC
Pfam:Ion_trans 1612 1817 6e-49 PFAM
Pfam:PKD_channel 1670 1824 1.4e-10 PFAM
low complexity region 2162 2193 N/A INTRINSIC
low complexity region 2212 2228 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107791
SMART Domains Protein: ENSMUSP00000103420
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.8e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 6e-55 PFAM
coiled coil region 1519 1558 N/A INTRINSIC
Pfam:Ion_trans 1612 1817 6e-49 PFAM
Pfam:PKD_channel 1670 1824 1.4e-10 PFAM
low complexity region 2162 2193 N/A INTRINSIC
low complexity region 2212 2228 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107793
SMART Domains Protein: ENSMUSP00000103422
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6e-55 PFAM
coiled coil region 1542 1581 N/A INTRINSIC
Pfam:Ion_trans 1635 1840 6.1e-49 PFAM
Pfam:PKD_channel 1693 1847 1.4e-10 PFAM
low complexity region 2185 2216 N/A INTRINSIC
low complexity region 2235 2251 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107793
SMART Domains Protein: ENSMUSP00000103422
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6e-55 PFAM
coiled coil region 1542 1581 N/A INTRINSIC
Pfam:Ion_trans 1635 1840 6.1e-49 PFAM
Pfam:PKD_channel 1693 1847 1.4e-10 PFAM
low complexity region 2185 2216 N/A INTRINSIC
low complexity region 2235 2251 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152811
Predicted Effect probably null
Transcript: ENSMUST00000107790
SMART Domains Protein: ENSMUSP00000103419
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 6e-55 PFAM
SCOP:d1g2qa_ 1522 1566 6e-3 SMART
Pfam:Ion_trans 1623 1828 6.1e-49 PFAM
Pfam:PKD_channel 1681 1835 1.4e-10 PFAM
low complexity region 2173 2204 N/A INTRINSIC
low complexity region 2223 2239 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107790
SMART Domains Protein: ENSMUSP00000103419
Gene: ENSMUSG00000020866

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 6e-55 PFAM
SCOP:d1g2qa_ 1522 1566 6e-3 SMART
Pfam:Ion_trans 1623 1828 6.1e-49 PFAM
Pfam:PKD_channel 1681 1835 1.4e-10 PFAM
low complexity region 2173 2204 N/A INTRINSIC
low complexity region 2223 2239 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik G T 11: 83,331,232 (GRCm39) E48* probably null Het
4930503B20Rik A G 3: 146,356,864 (GRCm39) S15P probably damaging Het
5530400C23Rik A G 6: 133,271,256 (GRCm39) E100G possibly damaging Het
Abcg2 T C 6: 58,662,679 (GRCm39) F507S possibly damaging Het
Adgrf5 A T 17: 43,761,044 (GRCm39) Q913L probably benign Het
Ak7 A T 12: 105,732,867 (GRCm39) N537I probably benign Het
Anks1 T A 17: 28,270,629 (GRCm39) probably null Het
Arhgap32 T A 9: 32,168,048 (GRCm39) V677D probably damaging Het
Ark2c G A 18: 77,550,634 (GRCm39) T98I probably benign Het
Arnt C T 3: 95,396,965 (GRCm39) P466L possibly damaging Het
Arrb1 T G 7: 99,243,872 (GRCm39) L274R probably damaging Het
Atf2 A T 2: 73,693,552 (GRCm39) D3E probably damaging Het
Baz2b C T 2: 59,798,981 (GRCm39) R381Q possibly damaging Het
Ccr10 C T 11: 101,064,501 (GRCm39) R343Q probably damaging Het
Clca3a2 G T 3: 144,777,405 (GRCm39) S822* probably null Het
Col12a1 A T 9: 79,568,278 (GRCm39) Y1649N probably benign Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Cp T C 3: 20,043,229 (GRCm39) Y1006H probably benign Het
Ctbs A G 3: 146,160,735 (GRCm39) T101A probably benign Het
Cyp4a31 T C 4: 115,426,951 (GRCm39) F170L probably benign Het
Dock1 A C 7: 134,345,976 (GRCm39) I173L possibly damaging Het
Dock4 A G 12: 40,743,024 (GRCm39) D393G possibly damaging Het
Dsg1a T A 18: 20,455,374 (GRCm39) S113T probably damaging Het
Epha3 T C 16: 63,431,311 (GRCm39) D530G probably damaging Het
Erbb4 T A 1: 68,435,411 (GRCm39) H162L possibly damaging Het
Fam131c C T 4: 141,110,142 (GRCm39) T180I probably benign Het
Fndc1 A G 17: 7,992,041 (GRCm39) S552P unknown Het
Foxf1 A G 8: 121,811,297 (GRCm39) probably null Het
Frem2 T C 3: 53,562,828 (GRCm39) T560A possibly damaging Het
Gabra4 G A 5: 71,790,975 (GRCm39) T289M probably damaging Het
Gcnt1 A G 19: 17,307,197 (GRCm39) V176A probably damaging Het
Gemin8 G A X: 164,963,644 (GRCm39) S100N probably benign Het
Gm1527 T C 3: 28,974,567 (GRCm39) I460T probably damaging Het
Gm6729 A G 10: 86,376,039 (GRCm39) noncoding transcript Het
Gprin2 T C 14: 33,917,036 (GRCm39) S245G probably benign Het
Gsdmc A T 15: 63,675,479 (GRCm39) I112N probably damaging Het
Hspb6 A G 7: 30,252,848 (GRCm39) D30G probably benign Het
Hydin A G 8: 111,259,903 (GRCm39) D2625G probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf2 T A 8: 47,290,875 (GRCm39) probably null Het
Kdm3b T C 18: 34,926,226 (GRCm39) probably null Het
Khdc3 G A 9: 73,010,773 (GRCm39) E208K possibly damaging Het
Kifc1 A T 17: 34,102,636 (GRCm39) S263T probably benign Het
Lrig3 C A 10: 125,844,567 (GRCm39) T677K probably damaging Het
Magec2 T A X: 61,334,512 (GRCm39) D177E probably benign Het
Mapkapk3 A T 9: 107,140,822 (GRCm39) probably null Het
Mertk T C 2: 128,632,248 (GRCm39) probably null Het
Metrn A G 17: 26,013,951 (GRCm39) *292R probably null Het
Mllt6 G T 11: 97,555,849 (GRCm39) A60S probably damaging Het
Mmp21 T C 7: 133,280,774 (GRCm39) I65M probably benign Het
Myo7b A G 18: 32,099,929 (GRCm39) L1651P probably damaging Het
Nhsl1 A G 10: 18,284,103 (GRCm39) S15G probably benign Het
Nos1ap T C 1: 170,165,687 (GRCm39) D192G probably benign Het
Nrcam A G 12: 44,619,032 (GRCm39) T844A probably damaging Het
Pax4 A G 6: 28,444,840 (GRCm39) L203P probably damaging Het
Pbld2 T C 10: 62,912,212 (GRCm39) I280T probably benign Het
Pclo A G 5: 14,838,420 (GRCm39) Y4681C unknown Het
Phyhip T A 14: 70,699,200 (GRCm39) M1K probably null Het
Plppr4 T C 3: 117,116,490 (GRCm39) N456D probably damaging Het
Prpf31 T C 7: 3,643,856 (GRCm39) Y473H probably damaging Het
Rapgef2 A T 3: 79,000,056 (GRCm39) V564D probably damaging Het
Rexo1 T C 10: 80,378,585 (GRCm39) S1123G probably benign Het
Rnasel C A 1: 153,631,759 (GRCm39) Q513K probably damaging Het
Rnf213 T C 11: 119,332,714 (GRCm39) V2641A probably damaging Het
Rnf40 G T 7: 127,189,787 (GRCm39) R184L probably damaging Het
Rnf8 A G 17: 29,845,946 (GRCm39) K179R probably damaging Het
Sipa1l2 C T 8: 126,174,352 (GRCm39) D1309N possibly damaging Het
Slc25a38 T A 9: 119,952,769 (GRCm39) M307K possibly damaging Het
Snx33 T C 9: 56,833,466 (GRCm39) D201G possibly damaging Het
Sulf1 T A 1: 12,887,574 (GRCm39) Y249* probably null Het
Sult2a4 G A 7: 13,643,785 (GRCm39) Q261* probably null Het
Syndig1 G A 2: 149,845,154 (GRCm39) A226T probably damaging Het
Tcaf2 C T 6: 42,601,385 (GRCm39) W891* probably null Het
Tcf15 C A 2: 151,985,808 (GRCm39) T88K probably damaging Het
Tmem19 A T 10: 115,183,122 (GRCm39) M117K probably damaging Het
Trim32 T C 4: 65,532,241 (GRCm39) L266P probably benign Het
Vmn2r11 T C 5: 109,201,707 (GRCm39) I266V probably benign Het
Vmn2r73 A T 7: 85,519,486 (GRCm39) Y491N probably benign Het
Wrn C T 8: 33,782,744 (GRCm39) E486K probably benign Het
Zfp457 T C 13: 67,441,501 (GRCm39) E262G probably damaging Het
Zfp598 A G 17: 24,897,603 (GRCm39) D308G probably null Het
Zup1 T C 10: 33,803,436 (GRCm39) I549M probably damaging Het
Other mutations in Cacna1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Cacna1g APN 11 94,324,738 (GRCm39) missense probably benign 0.16
IGL01382:Cacna1g APN 11 94,356,684 (GRCm39) missense probably damaging 1.00
IGL01694:Cacna1g APN 11 94,319,938 (GRCm39) missense probably damaging 1.00
IGL01866:Cacna1g APN 11 94,347,937 (GRCm39) missense probably damaging 0.99
IGL02341:Cacna1g APN 11 94,352,978 (GRCm39) missense probably damaging 1.00
IGL02506:Cacna1g APN 11 94,319,955 (GRCm39) missense probably damaging 0.99
IGL02706:Cacna1g APN 11 94,347,818 (GRCm39) missense probably damaging 1.00
IGL02879:Cacna1g APN 11 94,300,431 (GRCm39) missense probably benign 0.12
IGL03366:Cacna1g APN 11 94,347,977 (GRCm39) missense probably damaging 1.00
ANU23:Cacna1g UTSW 11 94,357,054 (GRCm39) critical splice acceptor site probably benign
IGL03134:Cacna1g UTSW 11 94,350,651 (GRCm39) missense probably damaging 1.00
R0092:Cacna1g UTSW 11 94,348,090 (GRCm39) missense probably damaging 1.00
R0123:Cacna1g UTSW 11 94,300,302 (GRCm39) missense probably damaging 1.00
R0178:Cacna1g UTSW 11 94,354,309 (GRCm39) missense probably damaging 1.00
R0375:Cacna1g UTSW 11 94,301,880 (GRCm39) missense possibly damaging 0.79
R0389:Cacna1g UTSW 11 94,350,523 (GRCm39) missense probably damaging 1.00
R0433:Cacna1g UTSW 11 94,350,033 (GRCm39) missense probably benign 0.16
R0458:Cacna1g UTSW 11 94,300,266 (GRCm39) missense probably damaging 0.96
R0498:Cacna1g UTSW 11 94,350,685 (GRCm39) missense probably damaging 1.00
R0629:Cacna1g UTSW 11 94,300,369 (GRCm39) missense possibly damaging 0.93
R0800:Cacna1g UTSW 11 94,317,265 (GRCm39) missense probably damaging 1.00
R1341:Cacna1g UTSW 11 94,324,582 (GRCm39) missense probably damaging 0.99
R1457:Cacna1g UTSW 11 94,350,381 (GRCm39) missense possibly damaging 0.76
R1532:Cacna1g UTSW 11 94,334,157 (GRCm39) missense probably damaging 1.00
R1540:Cacna1g UTSW 11 94,347,865 (GRCm39) missense probably damaging 1.00
R1652:Cacna1g UTSW 11 94,318,230 (GRCm39) missense probably damaging 1.00
R1688:Cacna1g UTSW 11 94,316,779 (GRCm39) missense possibly damaging 0.70
R1750:Cacna1g UTSW 11 94,334,118 (GRCm39) missense probably damaging 1.00
R1751:Cacna1g UTSW 11 94,350,628 (GRCm39) missense probably benign 0.35
R1767:Cacna1g UTSW 11 94,350,628 (GRCm39) missense probably benign 0.35
R1847:Cacna1g UTSW 11 94,357,007 (GRCm39) missense probably damaging 1.00
R1924:Cacna1g UTSW 11 94,334,880 (GRCm39) missense possibly damaging 0.93
R1973:Cacna1g UTSW 11 94,350,603 (GRCm39) missense possibly damaging 0.86
R2050:Cacna1g UTSW 11 94,300,300 (GRCm39) missense probably damaging 1.00
R2261:Cacna1g UTSW 11 94,347,961 (GRCm39) missense probably benign 0.42
R2273:Cacna1g UTSW 11 94,306,762 (GRCm39) missense probably damaging 0.98
R2274:Cacna1g UTSW 11 94,306,762 (GRCm39) missense probably damaging 0.98
R2275:Cacna1g UTSW 11 94,306,762 (GRCm39) missense probably damaging 0.98
R2376:Cacna1g UTSW 11 94,356,734 (GRCm39) missense probably damaging 0.99
R3686:Cacna1g UTSW 11 94,349,916 (GRCm39) splice site probably null
R3809:Cacna1g UTSW 11 94,306,922 (GRCm39) missense probably damaging 1.00
R3875:Cacna1g UTSW 11 94,328,749 (GRCm39) missense probably damaging 0.98
R4133:Cacna1g UTSW 11 94,323,370 (GRCm39) missense probably damaging 1.00
R4642:Cacna1g UTSW 11 94,308,920 (GRCm39) missense probably damaging 1.00
R4732:Cacna1g UTSW 11 94,334,041 (GRCm39) missense probably damaging 1.00
R4733:Cacna1g UTSW 11 94,334,041 (GRCm39) missense probably damaging 1.00
R4773:Cacna1g UTSW 11 94,302,298 (GRCm39) missense possibly damaging 0.78
R4798:Cacna1g UTSW 11 94,324,673 (GRCm39) missense probably damaging 1.00
R4839:Cacna1g UTSW 11 94,350,433 (GRCm39) missense probably benign 0.16
R4900:Cacna1g UTSW 11 94,350,177 (GRCm39) missense possibly damaging 0.78
R4927:Cacna1g UTSW 11 94,319,973 (GRCm39) missense probably damaging 1.00
R4930:Cacna1g UTSW 11 94,334,899 (GRCm39) missense probably damaging 1.00
R5050:Cacna1g UTSW 11 94,350,541 (GRCm39) missense probably damaging 1.00
R5117:Cacna1g UTSW 11 94,323,329 (GRCm39) missense probably damaging 1.00
R5186:Cacna1g UTSW 11 94,333,674 (GRCm39) missense probably damaging 1.00
R5364:Cacna1g UTSW 11 94,307,684 (GRCm39) missense probably benign 0.29
R5512:Cacna1g UTSW 11 94,334,968 (GRCm39) missense probably damaging 1.00
R5564:Cacna1g UTSW 11 94,321,312 (GRCm39) missense probably damaging 1.00
R5603:Cacna1g UTSW 11 94,330,578 (GRCm39) missense possibly damaging 0.76
R5682:Cacna1g UTSW 11 94,349,940 (GRCm39) missense probably damaging 1.00
R5818:Cacna1g UTSW 11 94,308,946 (GRCm39) missense probably damaging 1.00
R5828:Cacna1g UTSW 11 94,347,980 (GRCm39) missense probably damaging 1.00
R5882:Cacna1g UTSW 11 94,350,645 (GRCm39) missense probably damaging 1.00
R5884:Cacna1g UTSW 11 94,328,693 (GRCm39) missense probably damaging 1.00
R6075:Cacna1g UTSW 11 94,307,491 (GRCm39) missense probably damaging 1.00
R6112:Cacna1g UTSW 11 94,300,072 (GRCm39) missense probably damaging 0.98
R6122:Cacna1g UTSW 11 94,320,997 (GRCm39) missense probably benign 0.11
R6145:Cacna1g UTSW 11 94,353,087 (GRCm39) missense probably damaging 1.00
R6362:Cacna1g UTSW 11 94,330,533 (GRCm39) critical splice donor site probably null
R6415:Cacna1g UTSW 11 94,354,243 (GRCm39) missense probably damaging 1.00
R6468:Cacna1g UTSW 11 94,330,548 (GRCm39) missense probably damaging 1.00
R6648:Cacna1g UTSW 11 94,323,395 (GRCm39) missense probably damaging 1.00
R6746:Cacna1g UTSW 11 94,300,253 (GRCm39) nonsense probably null
R6764:Cacna1g UTSW 11 94,304,014 (GRCm39) missense possibly damaging 0.95
R6782:Cacna1g UTSW 11 94,350,376 (GRCm39) missense probably damaging 1.00
R6888:Cacna1g UTSW 11 94,350,033 (GRCm39) missense probably benign 0.16
R7148:Cacna1g UTSW 11 94,356,756 (GRCm39) missense probably benign 0.32
R7181:Cacna1g UTSW 11 94,306,691 (GRCm39) missense probably benign 0.21
R7183:Cacna1g UTSW 11 94,330,563 (GRCm39) missense probably benign 0.04
R7193:Cacna1g UTSW 11 94,300,057 (GRCm39) missense possibly damaging 0.60
R7237:Cacna1g UTSW 11 94,328,705 (GRCm39) missense probably benign 0.21
R7254:Cacna1g UTSW 11 94,323,393 (GRCm39) nonsense probably null
R7312:Cacna1g UTSW 11 94,323,383 (GRCm39) missense probably damaging 1.00
R7451:Cacna1g UTSW 11 94,319,901 (GRCm39) missense probably damaging 1.00
R7470:Cacna1g UTSW 11 94,352,765 (GRCm39) missense possibly damaging 0.76
R7534:Cacna1g UTSW 11 94,301,904 (GRCm39) missense probably benign 0.00
R7585:Cacna1g UTSW 11 94,364,368 (GRCm39) missense probably benign 0.39
R7706:Cacna1g UTSW 11 94,305,867 (GRCm39) missense probably benign 0.06
R7812:Cacna1g UTSW 11 94,334,880 (GRCm39) missense probably benign 0.03
R7918:Cacna1g UTSW 11 94,334,856 (GRCm39) missense probably benign 0.03
R7947:Cacna1g UTSW 11 94,348,001 (GRCm39) missense probably benign 0.01
R8013:Cacna1g UTSW 11 94,347,796 (GRCm39) missense probably damaging 0.99
R8016:Cacna1g UTSW 11 94,334,007 (GRCm39) missense probably benign 0.36
R8029:Cacna1g UTSW 11 94,300,564 (GRCm39) missense probably benign 0.01
R8098:Cacna1g UTSW 11 94,307,338 (GRCm39) missense probably benign 0.20
R8264:Cacna1g UTSW 11 94,364,392 (GRCm39) missense probably benign 0.21
R8478:Cacna1g UTSW 11 94,317,278 (GRCm39) missense probably damaging 1.00
R8679:Cacna1g UTSW 11 94,319,962 (GRCm39) missense probably damaging 1.00
R8697:Cacna1g UTSW 11 94,307,524 (GRCm39) missense probably benign 0.09
R8772:Cacna1g UTSW 11 94,356,713 (GRCm39) missense probably benign 0.03
R9011:Cacna1g UTSW 11 94,306,663 (GRCm39) missense probably benign 0.21
R9085:Cacna1g UTSW 11 94,334,046 (GRCm39) missense probably benign 0.01
R9155:Cacna1g UTSW 11 94,350,423 (GRCm39) missense
R9243:Cacna1g UTSW 11 94,347,893 (GRCm39) missense possibly damaging 0.84
R9288:Cacna1g UTSW 11 94,308,897 (GRCm39) nonsense probably null
R9408:Cacna1g UTSW 11 94,321,050 (GRCm39) missense probably damaging 1.00
R9496:Cacna1g UTSW 11 94,356,711 (GRCm39) missense probably benign 0.03
R9607:Cacna1g UTSW 11 94,356,714 (GRCm39) missense probably benign 0.03
R9720:Cacna1g UTSW 11 94,302,297 (GRCm39) missense probably benign 0.01
X0001:Cacna1g UTSW 11 94,300,471 (GRCm39) missense possibly damaging 0.90
X0019:Cacna1g UTSW 11 94,350,079 (GRCm39) missense probably damaging 0.97
X0065:Cacna1g UTSW 11 94,353,251 (GRCm39) missense probably damaging 1.00
Z1176:Cacna1g UTSW 11 94,328,937 (GRCm39) missense probably benign 0.31
Z1177:Cacna1g UTSW 11 94,364,416 (GRCm39) missense probably benign 0.21
Z1177:Cacna1g UTSW 11 94,350,422 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TTTATGAGACGGAGCACCTCCCAC -3'
(R):5'- GTTGCCAGACCGGAAGAATTTTGAC -3'

Sequencing Primer
(F):5'- GAGCACCTCCCACCTGAG -3'
(R):5'- ACCGGAAGAATTTTGACTCCCTG -3'
Posted On 2014-04-13