Incidental Mutation 'R0123:Cacna1g'
| ID |
21179 |
| 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 |
| MMRRC Submission |
038408-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.450)
|
| Stock # |
R0123 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
94299217-94365024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94300302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 2156
(H2156L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021234]
[ENSMUST00000100561]
[ENSMUST00000103166]
[ENSMUST00000107785]
[ENSMUST00000107786]
[ENSMUST00000107788]
[ENSMUST00000107789]
[ENSMUST00000107791]
[ENSMUST00000107790]
[ENSMUST00000107792]
[ENSMUST00000107793]
|
| AlphaFold |
Q5SUF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021234
AA Change: H2163L
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866
AA Change: H2163L
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000100561
AA Change: H2186L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000098127
Gene: ENSMUSG00000020866
AA Change: H2186L
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000103166
AA Change: H2179L
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099455
Gene: ENSMUSG00000020866
AA Change: H2179L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000107785
AA Change: H2067L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103414
Gene: ENSMUSG00000020866
AA Change: H2067L
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000107786
AA Change: H2139L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103415
Gene: ENSMUSG00000020866
AA Change: H2139L
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000107788
AA Change: H2161L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000103417
Gene: ENSMUSG00000020866
AA Change: H2161L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000107789
AA Change: H2272L
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103418
Gene: ENSMUSG00000020866
AA Change: H2272L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000107791
AA Change: H2145L
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103420
Gene: ENSMUSG00000020866
AA Change: H2145L
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000107790
AA Change: H2156L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103419
Gene: ENSMUSG00000020866
AA Change: H2156L
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000107792
AA Change: H2138L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103421
Gene: ENSMUSG00000020866
AA Change: H2138L
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000107793
AA Change: H2168L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103422
Gene: ENSMUSG00000020866
AA Change: H2168L
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000133331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146160
|
| Meta Mutation Damage Score |
0.2793 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
99% (71/72) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
C |
19: 21,575,565 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,139,378 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,476,584 (GRCm39) |
R105Q |
probably damaging |
Het |
| Becn1 |
A |
G |
11: 101,181,324 (GRCm39) |
Y326H |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,448 (GRCm39) |
I387T |
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,566,533 (GRCm39) |
|
probably benign |
Het |
| Cd59b |
G |
A |
2: 103,909,286 (GRCm39) |
|
probably null |
Het |
| Chn2 |
T |
C |
6: 54,267,436 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,412 (GRCm39) |
L892P |
possibly damaging |
Het |
| Col5a2 |
A |
G |
1: 45,446,195 (GRCm39) |
I461T |
probably benign |
Het |
| Cts8 |
T |
A |
13: 61,401,391 (GRCm39) |
M75L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,457,156 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,197,274 (GRCm39) |
M1558V |
probably benign |
Het |
| Dnlz |
T |
C |
2: 26,241,380 (GRCm39) |
N116S |
probably damaging |
Het |
| Efcab14 |
T |
C |
4: 115,597,728 (GRCm39) |
F108L |
probably damaging |
Het |
| Ell2 |
T |
C |
13: 75,910,259 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
T |
G |
6: 135,194,072 (GRCm39) |
S242A |
possibly damaging |
Het |
| Fhip2a |
G |
A |
19: 57,369,839 (GRCm39) |
D461N |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,896,816 (GRCm39) |
T608A |
possibly damaging |
Het |
| Gata3 |
T |
C |
2: 9,879,620 (GRCm39) |
T119A |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,865,180 (GRCm39) |
D131E |
probably benign |
Het |
| Hira |
T |
A |
16: 18,774,921 (GRCm39) |
F949I |
probably benign |
Het |
| Il3 |
A |
G |
11: 54,156,506 (GRCm39) |
|
probably null |
Het |
| Itgb3 |
A |
T |
11: 104,527,914 (GRCm39) |
K216N |
probably damaging |
Het |
| Jkampl |
A |
G |
6: 73,446,402 (GRCm39) |
L49P |
possibly damaging |
Het |
| Kctd21 |
T |
A |
7: 96,997,298 (GRCm39) |
I257N |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,514,295 (GRCm39) |
S1215T |
probably benign |
Het |
| Lhx9 |
A |
T |
1: 138,766,417 (GRCm39) |
C124S |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,782,124 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,486,995 (GRCm39) |
E142G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,636 (GRCm39) |
M2835V |
possibly damaging |
Het |
| Mndal |
A |
T |
1: 173,685,079 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
G |
T |
6: 122,051,673 (GRCm39) |
V952L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,276,533 (GRCm39) |
T29S |
probably damaging |
Het |
| Nlgn1 |
C |
T |
3: 25,490,089 (GRCm39) |
C546Y |
probably damaging |
Het |
| Notch4 |
C |
T |
17: 34,784,337 (GRCm39) |
R43W |
possibly damaging |
Het |
| Nrxn1 |
A |
T |
17: 91,302,915 (GRCm39) |
|
probably null |
Het |
| Or14a260 |
A |
G |
7: 85,984,803 (GRCm39) |
I267T |
probably benign |
Het |
| Or8k53 |
T |
C |
2: 86,178,072 (GRCm39) |
I13V |
possibly damaging |
Het |
| Phf3 |
A |
T |
1: 30,844,146 (GRCm39) |
D1604E |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,312,700 (GRCm39) |
R53G |
probably benign |
Het |
| Pnp2 |
T |
C |
14: 51,200,634 (GRCm39) |
F100S |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,776 (GRCm39) |
K263E |
probably damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,564,783 (GRCm39) |
S327P |
probably damaging |
Het |
| Siah2 |
A |
G |
3: 58,583,536 (GRCm39) |
V250A |
probably damaging |
Het |
| Slc10a7 |
T |
A |
8: 79,423,787 (GRCm39) |
|
probably null |
Het |
| Slc9a1 |
A |
G |
4: 133,147,916 (GRCm39) |
K645E |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,548,620 (GRCm39) |
L302P |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,552 (GRCm39) |
Y211* |
probably null |
Het |
| Tenm3 |
A |
T |
8: 49,127,507 (GRCm39) |
L57Q |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,067,150 (GRCm39) |
V2269I |
possibly damaging |
Het |
| Tpd52l1 |
A |
G |
10: 31,255,252 (GRCm39) |
S32P |
probably damaging |
Het |
| Tsfm |
A |
G |
10: 126,858,798 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,540,468 (GRCm39) |
R34173W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,623,474 (GRCm39) |
V15368L |
possibly damaging |
Het |
| Upk1a |
A |
T |
7: 30,311,819 (GRCm39) |
I25N |
possibly damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,492 (GRCm39) |
Y159* |
probably null |
Het |
| Vmn2r13 |
C |
A |
5: 109,322,915 (GRCm39) |
V125L |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,887,407 (GRCm39) |
I3272T |
probably benign |
Het |
| Zfp108 |
A |
G |
7: 23,959,892 (GRCm39) |
H161R |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,597,093 (GRCm39) |
K150I |
probably benign |
Het |
| Zfyve1 |
A |
G |
12: 83,601,847 (GRCm39) |
|
probably benign |
Het |
| Zswim8 |
T |
C |
14: 20,766,558 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cacna1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R1523:Cacna1g
|
UTSW |
11 |
94,333,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- GACTTTTCAGAAGGACTGCCCAGG -3'
(R):5'- CAGAAGCAGCTTAGAGCTGGACAC -3'
Sequencing Primer
(F):5'- AGAGACTCAGCGCATCTTTC -3'
(R):5'- ACGGAGCTGAGCTGGATTTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation