Incidental Mutation 'R5512:Cacna1g'
ID |
440117 |
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)
|
Stock # |
R5512 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94299217-94365024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 94334968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 780
(I780F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021234]
[ENSMUST00000100561]
[ENSMUST00000103166]
[ENSMUST00000107785]
[ENSMUST00000107786]
[ENSMUST00000107788]
[ENSMUST00000107789]
[ENSMUST00000107790]
[ENSMUST00000107791]
[ENSMUST00000107792]
[ENSMUST00000107793]
|
AlphaFold |
Q5SUF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021234
AA Change: I780F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021234 Gene: ENSMUSG00000020866 AA Change: I780F
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: I780F
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000098127 Gene: ENSMUSG00000020866 AA Change: I780F
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 |
possibly damaging
Transcript: ENSMUST00000103166
AA Change: I780F
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099455 Gene: ENSMUSG00000020866 AA Change: I780F
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 |
probably benign
Transcript: ENSMUST00000107785
AA Change: I780F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000103414 Gene: ENSMUSG00000020866 AA Change: I780F
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 |
possibly damaging
Transcript: ENSMUST00000107786
AA Change: I763F
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103415 Gene: ENSMUSG00000020866 AA Change: I763F
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 |
possibly damaging
Transcript: ENSMUST00000107788
AA Change: I780F
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103417 Gene: ENSMUSG00000020866 AA Change: I780F
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 |
noncoding transcript
Transcript: ENSMUST00000152811
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107789
AA Change: I780F
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103418 Gene: ENSMUSG00000020866 AA Change: I780F
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 |
probably damaging
Transcript: ENSMUST00000107790
AA Change: I780F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103419 Gene: ENSMUSG00000020866 AA Change: I780F
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: ENSMUST00000107791
AA Change: I780F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103420 Gene: ENSMUSG00000020866 AA Change: I780F
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: ENSMUST00000107792
AA Change: I780F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103421 Gene: ENSMUSG00000020866 AA Change: I780F
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 |
possibly damaging
Transcript: ENSMUST00000107793
AA Change: I780F
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103422 Gene: ENSMUSG00000020866 AA Change: I780F
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
A |
G |
7: 130,952,389 (GRCm39) |
V364A |
possibly damaging |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Adgre5 |
T |
C |
8: 84,455,715 (GRCm39) |
N198D |
probably benign |
Het |
Adgrf4 |
G |
T |
17: 42,978,176 (GRCm39) |
T389K |
probably benign |
Het |
Apc |
T |
A |
18: 34,443,962 (GRCm39) |
|
probably benign |
Het |
Appl2 |
T |
A |
10: 83,441,682 (GRCm39) |
I524F |
probably damaging |
Het |
Arhgef37 |
G |
A |
18: 61,632,845 (GRCm39) |
Q531* |
probably null |
Het |
Atp7b |
T |
C |
8: 22,502,755 (GRCm39) |
T694A |
probably benign |
Het |
Calcoco2 |
T |
C |
11: 95,994,162 (GRCm39) |
K95E |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,870 (GRCm39) |
D388G |
possibly damaging |
Het |
Ccdc150 |
A |
C |
1: 54,393,806 (GRCm39) |
E690A |
probably damaging |
Het |
Cdc73 |
G |
T |
1: 143,578,354 (GRCm39) |
D3E |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,370,165 (GRCm39) |
|
probably null |
Het |
Cep170b |
T |
C |
12: 112,699,919 (GRCm39) |
S143P |
possibly damaging |
Het |
Cherp |
T |
C |
8: 73,217,110 (GRCm39) |
I607V |
possibly damaging |
Het |
CN725425 |
T |
A |
15: 91,124,959 (GRCm39) |
H166Q |
probably benign |
Het |
Dcaf6 |
A |
G |
1: 165,227,404 (GRCm39) |
V241A |
possibly damaging |
Het |
Dot1l |
C |
T |
10: 80,624,825 (GRCm39) |
P881S |
possibly damaging |
Het |
Drgx |
A |
G |
14: 32,322,001 (GRCm39) |
H5R |
probably damaging |
Het |
Dsg1c |
A |
T |
18: 20,405,568 (GRCm39) |
N327I |
probably damaging |
Het |
Fbxw7 |
G |
A |
3: 84,862,216 (GRCm39) |
R182H |
probably damaging |
Het |
Fkbp1b |
A |
T |
12: 4,888,183 (GRCm39) |
V24E |
probably benign |
Het |
Fut11 |
T |
C |
14: 20,746,069 (GRCm39) |
S304P |
probably damaging |
Het |
Ggt1 |
C |
T |
10: 75,420,718 (GRCm39) |
T361I |
probably damaging |
Het |
Gimap7 |
G |
T |
6: 48,700,530 (GRCm39) |
A39S |
probably benign |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Gm17541 |
G |
T |
12: 4,739,452 (GRCm39) |
|
probably benign |
Het |
Gmip |
T |
A |
8: 70,270,540 (GRCm39) |
V750E |
probably benign |
Het |
Gna14 |
A |
G |
19: 16,585,492 (GRCm39) |
E290G |
probably benign |
Het |
Gpnmb |
T |
C |
6: 49,022,398 (GRCm39) |
V176A |
possibly damaging |
Het |
Hhla1 |
T |
C |
15: 65,795,865 (GRCm39) |
K447R |
probably benign |
Het |
Hsd3b1 |
A |
G |
3: 98,760,521 (GRCm39) |
Y157H |
probably benign |
Het |
Iqgap2 |
G |
A |
13: 95,811,884 (GRCm39) |
Q706* |
probably null |
Het |
Krt222 |
A |
C |
11: 99,125,781 (GRCm39) |
S283R |
probably damaging |
Het |
Ldb2 |
G |
A |
5: 44,637,586 (GRCm39) |
R241W |
probably damaging |
Het |
Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,526 (GRCm39) |
I536F |
probably damaging |
Het |
Mptx1 |
A |
G |
1: 174,160,315 (GRCm39) |
D207G |
probably benign |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Napsa |
A |
G |
7: 44,222,040 (GRCm39) |
M1V |
probably null |
Het |
Ncam1 |
A |
T |
9: 49,420,999 (GRCm39) |
|
probably null |
Het |
Nckap5 |
G |
A |
1: 125,955,481 (GRCm39) |
P425L |
possibly damaging |
Het |
Nol8 |
A |
G |
13: 49,830,263 (GRCm39) |
S1116G |
probably benign |
Het |
Nrde2 |
G |
T |
12: 100,108,509 (GRCm39) |
Q361K |
probably benign |
Het |
Nudt13 |
G |
A |
14: 20,357,800 (GRCm39) |
G133D |
probably damaging |
Het |
Ofcc1 |
G |
T |
13: 40,360,286 (GRCm39) |
Q248K |
probably benign |
Het |
Olfm4 |
A |
G |
14: 80,258,787 (GRCm39) |
D345G |
probably benign |
Het |
Or2t6 |
C |
A |
14: 14,175,633 (GRCm38) |
G150C |
probably damaging |
Het |
Or4k41 |
G |
A |
2: 111,280,099 (GRCm39) |
V205I |
probably benign |
Het |
Osbpl3 |
T |
G |
6: 50,286,340 (GRCm39) |
K659N |
probably damaging |
Het |
Pdk2 |
G |
A |
11: 94,930,292 (GRCm39) |
T48M |
probably damaging |
Het |
Phf11a |
A |
T |
14: 59,524,999 (GRCm39) |
D68E |
probably benign |
Het |
Purb |
A |
G |
11: 6,425,702 (GRCm39) |
V62A |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,037,971 (GRCm39) |
T248A |
possibly damaging |
Het |
Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
C |
T |
12: 109,557,805 (GRCm39) |
E1345K |
unknown |
Het |
Sema3e |
G |
A |
5: 14,280,194 (GRCm39) |
A358T |
probably damaging |
Het |
Slc29a2 |
A |
G |
19: 5,076,426 (GRCm39) |
I105V |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc6a5 |
G |
A |
7: 49,591,573 (GRCm39) |
V513I |
probably damaging |
Het |
Slco4a1 |
T |
A |
2: 180,115,907 (GRCm39) |
F681Y |
possibly damaging |
Het |
Sp1 |
A |
G |
15: 102,339,445 (GRCm39) |
N775S |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,432,605 (GRCm39) |
V827D |
probably damaging |
Het |
Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
Tars2 |
A |
T |
3: 95,657,728 (GRCm39) |
C238S |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,645,517 (GRCm39) |
Y111N |
probably damaging |
Het |
Tnks1bp1 |
C |
A |
2: 84,893,178 (GRCm39) |
P373Q |
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,575,045 (GRCm39) |
L373P |
probably damaging |
Het |
Unc45b |
A |
C |
11: 82,805,898 (GRCm39) |
D135A |
possibly damaging |
Het |
Vmn1r235 |
A |
T |
17: 21,481,677 (GRCm39) |
M1L |
probably benign |
Het |
Vmn2r66 |
T |
C |
7: 84,657,149 (GRCm39) |
I85M |
probably damaging |
Het |
Vmn2r80 |
T |
G |
10: 79,004,066 (GRCm39) |
L93W |
probably benign |
Het |
Vwf |
G |
T |
6: 125,650,850 (GRCm39) |
|
probably benign |
Het |
Ythdf3 |
A |
G |
3: 16,238,086 (GRCm39) |
R9G |
probably damaging |
Het |
Zfp229 |
A |
G |
17: 21,964,017 (GRCm39) |
|
probably null |
Het |
Zfp958 |
A |
C |
8: 4,675,838 (GRCm39) |
|
probably null |
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 |
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 |
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 |
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'- GAAGGTCAAAGCCATCCCTG -3'
(R):5'- GATCTGAGATCCAGCCTTGG -3'
Sequencing Primer
(F):5'- GCTGGCCCTCTTTCAGACAG -3'
(R):5'- CCCAGGATGGCTGTATTTGAATGC -3'
|
Posted On |
2016-11-08 |