Incidental Mutation 'R6415:Cacna1g'
| ID |
517882 |
| 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 |
044557-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.450)
|
| Stock # |
R6415 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94299217-94365024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94354243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 224
(I224T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103422
(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: I224T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866
AA Change: I224T
| 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: I224T
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000098127
Gene: ENSMUSG00000020866
AA Change: I224T
| 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: I224T
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099455
Gene: ENSMUSG00000020866
AA Change: I224T
| 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: I224T
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103414
Gene: ENSMUSG00000020866
AA Change: I224T
| 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 damaging
Transcript: ENSMUST00000107786
AA Change: I224T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103415
Gene: ENSMUSG00000020866
AA Change: I224T
| 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: I224T
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103417
Gene: ENSMUSG00000020866
AA Change: I224T
| 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 benign
Transcript: ENSMUST00000107789
AA Change: I224T
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103418
Gene: ENSMUSG00000020866
AA Change: I224T
| 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: I224T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103419
Gene: ENSMUSG00000020866
AA Change: I224T
| 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: I224T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103420
Gene: ENSMUSG00000020866
AA Change: I224T
| 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: I224T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103421
Gene: ENSMUSG00000020866
AA Change: I224T
| 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: I224T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103422
Gene: ENSMUSG00000020866
AA Change: I224T
| 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
|
| Meta Mutation Damage Score |
0.9513 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,881,296 (GRCm39) |
T482M |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,468,498 (GRCm39) |
Y513H |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,222,540 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,588,759 (GRCm39) |
D326G |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,309,612 (GRCm39) |
I402M |
probably benign |
Het |
| Cckar |
A |
T |
5: 53,860,398 (GRCm39) |
C73S |
probably damaging |
Het |
| Cdk13 |
C |
T |
13: 17,913,739 (GRCm39) |
R880H |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,830,986 (GRCm39) |
N218D |
unknown |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,130 (GRCm39) |
I145T |
possibly damaging |
Het |
| Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,831,365 (GRCm39) |
F483L |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,436,939 (GRCm39) |
D963G |
probably benign |
Het |
| Dhx8 |
G |
T |
11: 101,628,513 (GRCm39) |
A142S |
unknown |
Het |
| Dock7 |
C |
T |
4: 98,880,685 (GRCm39) |
R926Q |
probably damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,594,975 (GRCm39) |
Q693* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,117,024 (GRCm39) |
C1234Y |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,089,102 (GRCm39) |
|
probably null |
Het |
| Fam91a1 |
T |
C |
15: 58,314,766 (GRCm39) |
L549P |
probably damaging |
Het |
| Fxyd2 |
T |
A |
9: 45,314,592 (GRCm39) |
Y5N |
possibly damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gpr182 |
T |
A |
10: 127,586,375 (GRCm39) |
D192V |
possibly damaging |
Het |
| Gps1 |
T |
C |
11: 120,678,548 (GRCm39) |
V286A |
possibly damaging |
Het |
| Grk1 |
A |
G |
8: 13,463,127 (GRCm39) |
Y383C |
probably damaging |
Het |
| H2bc15 |
T |
C |
13: 21,938,656 (GRCm39) |
Y122H |
probably benign |
Het |
| Hic1 |
G |
A |
11: 75,057,143 (GRCm39) |
P582L |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,607,279 (GRCm39) |
F328L |
probably benign |
Het |
| Lactb |
T |
C |
9: 66,877,927 (GRCm39) |
K301E |
possibly damaging |
Het |
| Lrp3 |
A |
T |
7: 34,903,593 (GRCm39) |
V251E |
probably benign |
Het |
| Mapt |
G |
A |
11: 104,189,824 (GRCm39) |
G265S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,925,956 (GRCm39) |
D6245E |
probably damaging |
Het |
| Or10al2 |
G |
T |
17: 37,983,448 (GRCm39) |
C178F |
possibly damaging |
Het |
| Or1j12 |
A |
G |
2: 36,342,617 (GRCm39) |
S7G |
probably damaging |
Het |
| Or4b1c |
T |
A |
2: 90,126,381 (GRCm39) |
I275F |
probably damaging |
Het |
| Or4c10b |
T |
C |
2: 89,711,206 (GRCm39) |
L12P |
probably damaging |
Het |
| Or6c207 |
T |
C |
10: 129,104,890 (GRCm39) |
T101A |
probably benign |
Het |
| Or7e165 |
T |
A |
9: 19,695,044 (GRCm39) |
I205N |
probably damaging |
Het |
| Or7g19 |
T |
C |
9: 18,856,415 (GRCm39) |
L157P |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,241,904 (GRCm38) |
H288Q |
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 93,253,278 (GRCm39) |
M1128I |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,127,614 (GRCm39) |
Y699H |
probably damaging |
Het |
| Pgk2 |
A |
T |
17: 40,518,459 (GRCm39) |
I323N |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,410,264 (GRCm39) |
V1216A |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,620,176 (GRCm39) |
|
probably benign |
Het |
| Prelp |
A |
T |
1: 133,840,516 (GRCm39) |
I322N |
probably benign |
Het |
| Prelp |
A |
T |
1: 133,842,395 (GRCm39) |
I250N |
probably damaging |
Het |
| Prss27 |
T |
A |
17: 24,261,882 (GRCm39) |
C63* |
probably null |
Het |
| Rab38 |
G |
A |
7: 88,079,748 (GRCm39) |
A47T |
possibly damaging |
Het |
| Rprd2 |
G |
A |
3: 95,681,531 (GRCm39) |
A436V |
probably benign |
Het |
| Sacs |
A |
T |
14: 61,442,808 (GRCm39) |
N1618I |
probably damaging |
Het |
| Scp2 |
T |
G |
4: 107,962,337 (GRCm39) |
S63R |
probably benign |
Het |
| Sftpb |
T |
G |
6: 72,281,633 (GRCm39) |
W9G |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,780,415 (GRCm39) |
L125* |
probably null |
Het |
| Sptlc1 |
T |
C |
13: 53,505,728 (GRCm39) |
|
probably null |
Het |
| Sub1 |
T |
A |
15: 11,986,560 (GRCm39) |
M96L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,667,458 (GRCm39) |
V1233A |
probably benign |
Het |
| Tmem140 |
A |
T |
6: 34,849,658 (GRCm39) |
D58V |
probably damaging |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Tpt1 |
T |
C |
14: 76,083,811 (GRCm39) |
Y91H |
probably benign |
Het |
| Trap1 |
C |
T |
16: 3,861,856 (GRCm39) |
R636H |
possibly damaging |
Het |
| Ttc14 |
A |
G |
3: 33,857,724 (GRCm39) |
H275R |
possibly damaging |
Het |
| Tut7 |
T |
A |
13: 59,964,110 (GRCm39) |
|
probably null |
Het |
| Vps35l |
T |
C |
7: 118,391,869 (GRCm39) |
W494R |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,921,438 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
T |
A |
9: 30,975,510 (GRCm39) |
I380N |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,838,063 (GRCm39) |
F798L |
possibly 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 |
|
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 |
|
|
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'- GCCAGATATGAGACCACATATATCC -3'
(R):5'- ATTAAGGATTGCCTGGGAGAGTTAG -3'
Sequencing Primer
(F):5'- GATATGAGACCACATATATCCATGGC -3'
(R):5'- CCCCTCCAGCTTAAATGGGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation