Incidental Mutation 'R0498:Cacna1g'
ID |
40619 |
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 |
038694-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.339)
|
Stock # |
R0498 (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 C
at 94350685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 387
(I387V)
|
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 |
probably damaging
Transcript: ENSMUST00000021234
AA Change: I387V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000021234 Gene: ENSMUSG00000020866 AA Change: I387V
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: I387V
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000098127 Gene: ENSMUSG00000020866 AA Change: I387V
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 damaging
Transcript: ENSMUST00000103166
AA Change: I387V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099455 Gene: ENSMUSG00000020866 AA Change: I387V
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: I387V
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103414 Gene: ENSMUSG00000020866 AA Change: I387V
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
|
SMART Domains |
Protein: ENSMUSP00000103415 Gene: ENSMUSG00000020866
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: I387V
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103417 Gene: ENSMUSG00000020866 AA Change: I387V
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 |
probably damaging
Transcript: ENSMUST00000107789
AA Change: I387V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103418 Gene: ENSMUSG00000020866 AA Change: I387V
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: I387V
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103420 Gene: ENSMUSG00000020866 AA Change: I387V
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: I387V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103419 Gene: ENSMUSG00000020866 AA Change: I387V
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: I387V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103421 Gene: ENSMUSG00000020866 AA Change: I387V
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: I387V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103422 Gene: ENSMUSG00000020866 AA Change: I387V
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: ENSMUST00000152811
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (68/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,718 (GRCm39) |
D220V |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,562,716 (GRCm39) |
V219A |
probably benign |
Het |
Anapc10 |
A |
G |
8: 80,501,610 (GRCm39) |
D126G |
probably benign |
Het |
Ap1m2 |
T |
C |
9: 21,207,129 (GRCm39) |
*426W |
probably null |
Het |
Arhgap21 |
A |
G |
2: 20,867,928 (GRCm39) |
I865T |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,379,345 (GRCm39) |
V527A |
probably damaging |
Het |
Asic5 |
A |
T |
3: 81,913,778 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
C |
2: 59,732,340 (GRCm39) |
|
probably benign |
Het |
Bpifa5 |
T |
C |
2: 154,009,169 (GRCm39) |
V237A |
probably damaging |
Het |
Brip1 |
T |
A |
11: 86,088,745 (GRCm39) |
K52I |
possibly damaging |
Het |
Cbr4 |
A |
G |
8: 61,948,107 (GRCm39) |
I135V |
probably benign |
Het |
Ccdc66 |
C |
T |
14: 27,222,197 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
A |
2: 13,449,078 (GRCm39) |
T999M |
probably damaging |
Het |
Dnai3 |
G |
T |
3: 145,787,119 (GRCm39) |
D305E |
possibly damaging |
Het |
Dpp8 |
C |
T |
9: 64,953,077 (GRCm39) |
|
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,390 (GRCm39) |
S966P |
possibly damaging |
Het |
Erp27 |
T |
C |
6: 136,896,862 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
T |
3: 39,034,786 (GRCm39) |
I2813L |
probably benign |
Het |
Fhod1 |
G |
A |
8: 106,056,488 (GRCm39) |
R1101C |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,892,359 (GRCm39) |
S191P |
probably damaging |
Het |
Izumo4 |
T |
C |
10: 80,540,030 (GRCm39) |
|
probably null |
Het |
Kalrn |
C |
T |
16: 33,875,261 (GRCm39) |
D104N |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,667,873 (GRCm39) |
D191E |
probably benign |
Het |
Kbtbd11 |
A |
G |
8: 15,077,605 (GRCm39) |
E68G |
probably benign |
Het |
Kdr |
C |
T |
5: 76,119,798 (GRCm39) |
V654I |
probably benign |
Het |
Klra1 |
A |
T |
6: 130,349,782 (GRCm39) |
|
probably null |
Het |
Kmt2e |
T |
A |
5: 23,683,970 (GRCm39) |
Y373* |
probably null |
Het |
Lepr |
A |
T |
4: 101,602,889 (GRCm39) |
M226L |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,348,417 (GRCm39) |
I800F |
probably benign |
Het |
Lta4h |
T |
C |
10: 93,307,833 (GRCm39) |
|
probably benign |
Het |
Map3k7 |
T |
C |
4: 31,974,814 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,029,338 (GRCm39) |
R371Q |
probably benign |
Het |
Mgat4f |
A |
G |
1: 134,318,610 (GRCm39) |
I461V |
possibly damaging |
Het |
Mme |
A |
G |
3: 63,253,487 (GRCm39) |
I444V |
probably damaging |
Het |
Mms19 |
C |
T |
19: 41,938,212 (GRCm39) |
R582Q |
possibly damaging |
Het |
Mtss1 |
A |
G |
15: 58,817,286 (GRCm39) |
S502P |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,467,441 (GRCm39) |
A232S |
possibly damaging |
Het |
Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
Or4k15 |
A |
C |
14: 50,364,750 (GRCm39) |
T239P |
probably damaging |
Het |
Or8b12 |
G |
A |
9: 37,657,550 (GRCm39) |
G40E |
probably damaging |
Het |
Pcm1 |
G |
A |
8: 41,746,806 (GRCm39) |
S1335N |
probably benign |
Het |
Pdzph1 |
A |
G |
17: 59,280,825 (GRCm39) |
F486L |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,235,245 (GRCm39) |
K552R |
possibly damaging |
Het |
Plekhs1 |
T |
A |
19: 56,469,536 (GRCm39) |
|
probably null |
Het |
Pprc1 |
C |
T |
19: 46,060,007 (GRCm39) |
Q1514* |
probably null |
Het |
Ralgapa1 |
T |
C |
12: 55,736,576 (GRCm39) |
T1831A |
possibly damaging |
Het |
Rnpep |
G |
T |
1: 135,193,090 (GRCm39) |
D455E |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,771 (GRCm39) |
|
probably benign |
Het |
Saxo1 |
A |
T |
4: 86,397,133 (GRCm39) |
M135K |
possibly damaging |
Het |
Serpina12 |
T |
C |
12: 104,002,048 (GRCm39) |
T223A |
probably damaging |
Het |
Serpinb3a |
A |
G |
1: 106,974,880 (GRCm39) |
F218L |
probably damaging |
Het |
Serpinb9f |
T |
G |
13: 33,509,990 (GRCm39) |
|
probably benign |
Het |
Spata33 |
A |
G |
8: 123,948,662 (GRCm39) |
D98G |
probably benign |
Het |
Stard13 |
T |
A |
5: 150,975,942 (GRCm39) |
Y742F |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,288,910 (GRCm39) |
Y552H |
probably damaging |
Het |
Tie1 |
A |
T |
4: 118,336,358 (GRCm39) |
|
probably benign |
Het |
Tmem161a |
A |
G |
8: 70,633,623 (GRCm39) |
T254A |
probably benign |
Het |
Tmem30a |
G |
T |
9: 79,681,376 (GRCm39) |
Y264* |
probably null |
Het |
Tmem87a |
A |
T |
2: 120,224,946 (GRCm39) |
I105K |
probably benign |
Het |
Tnrc6b |
A |
T |
15: 80,742,920 (GRCm39) |
D51V |
probably damaging |
Het |
Trgc3 |
T |
A |
13: 19,445,262 (GRCm39) |
M70K |
probably damaging |
Het |
Trpc4 |
T |
C |
3: 54,198,632 (GRCm39) |
F519L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,539,925 (GRCm39) |
T26027A |
probably damaging |
Het |
Vmn1r198 |
A |
C |
13: 22,539,144 (GRCm39) |
H121P |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,709,024 (GRCm39) |
F64L |
probably benign |
Het |
Zfp1008 |
T |
C |
13: 62,755,201 (GRCm39) |
N39S |
probably damaging |
Het |
Zfp994 |
A |
T |
17: 22,419,882 (GRCm39) |
C356S |
probably damaging |
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 |
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'- TCCAAGTGGCAGTCAGCATGGTAG -3'
(R):5'- TATCACCAGCAGTAGTGGGCTAGG -3'
Sequencing Primer
(F):5'- gtggtagtggtgatggtgg -3'
(R):5'- GCCTGAGCTGTTGCAAAC -3'
|
Posted On |
2013-05-23 |