Incidental Mutation 'R1835:Cacna1h'
| ID |
205224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1h
|
| Ensembl Gene |
ENSMUSG00000024112 |
| Gene Name |
calcium channel, voltage-dependent, T type, alpha 1H subunit |
| Synonyms |
alpha13.2, T-type Cav3.2, Cav3.2 |
| MMRRC Submission |
039862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1835 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25611050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 583
(V583L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078496
AA Change: V583L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: V583L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
138 |
418 |
8.4e-65 |
PFAM |
|
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
723 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
824 |
1011 |
4.7e-46 |
PFAM |
|
low complexity region
|
1130 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1259 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1341 |
1565 |
4.5e-56 |
PFAM |
|
low complexity region
|
1576 |
1602 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1656 |
1864 |
7.8e-48 |
PFAM |
|
Pfam:PKD_channel
|
1714 |
1871 |
1.2e-10 |
PFAM |
|
Blast:Tryp_SPc
|
1915 |
2077 |
1e-38 |
BLAST |
|
low complexity region
|
2086 |
2097 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159048
AA Change: V477L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: V477L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
32 |
312 |
8e-65 |
PFAM |
|
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
617 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
718 |
905 |
4.6e-46 |
PFAM |
|
low complexity region
|
1024 |
1041 |
N/A |
INTRINSIC |
|
low complexity region
|
1142 |
1153 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1235 |
1459 |
4.3e-56 |
PFAM |
|
low complexity region
|
1470 |
1496 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
1524 |
1608 |
1.6e-6 |
PFAM |
|
Pfam:Ion_trans
|
1550 |
1758 |
7.6e-48 |
PFAM |
|
Pfam:PKD_channel
|
1609 |
1765 |
1.2e-10 |
PFAM |
|
Blast:Tryp_SPc
|
1809 |
1854 |
9e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159610
AA Change: V583L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: V583L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
99 |
430 |
7e-79 |
PFAM |
|
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
723 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
789 |
1023 |
2.4e-58 |
PFAM |
|
low complexity region
|
1130 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1259 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1304 |
1577 |
4.5e-65 |
PFAM |
|
Pfam:Ion_trans
|
1621 |
1876 |
4.2e-59 |
PFAM |
|
Pfam:PKD_channel
|
1629 |
1715 |
9.3e-7 |
PFAM |
|
Pfam:PKD_channel
|
1713 |
1871 |
2.2e-11 |
PFAM |
|
Blast:Tryp_SPc
|
1915 |
2077 |
1e-38 |
BLAST |
|
low complexity region
|
2086 |
2097 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162820
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Voltage-dependent Ca(2+) channels mediate the entry of Ca(2+) ions into excitable cells and are involved in a variety of Ca(2+)-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. The protein encoded by this gene is an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,400,550 (GRCm39) |
Y530N |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,466,333 (GRCm39) |
I763V |
probably benign |
Het |
| Aipl1 |
T |
G |
11: 71,921,325 (GRCm39) |
K190T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,655,485 (GRCm39) |
S3344T |
possibly damaging |
Het |
| Alpi |
A |
G |
1: 87,027,136 (GRCm39) |
V381A |
possibly damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,338,444 (GRCm39) |
S365R |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,348,150 (GRCm39) |
A623T |
probably benign |
Het |
| Apc |
T |
A |
18: 34,450,130 (GRCm39) |
L2308Q |
probably damaging |
Het |
| Atp9b |
C |
T |
18: 80,822,098 (GRCm39) |
V501I |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,732,163 (GRCm39) |
E1994G |
probably benign |
Het |
| Bltp2 |
G |
T |
11: 78,178,576 (GRCm39) |
V1993F |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,307,986 (GRCm39) |
|
probably null |
Het |
| Cd55 |
T |
C |
1: 130,375,346 (GRCm39) |
|
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,937,494 (GRCm39) |
S75T |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,798,237 (GRCm39) |
D1674V |
probably benign |
Het |
| Churc1 |
T |
C |
12: 76,820,071 (GRCm39) |
F27L |
possibly damaging |
Het |
| Coro1c |
A |
G |
5: 113,986,604 (GRCm39) |
I280T |
probably benign |
Het |
| Creb1 |
C |
T |
1: 64,590,109 (GRCm39) |
Q32* |
probably null |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,208 (GRCm39) |
T339A |
probably benign |
Het |
| Dctn3 |
T |
C |
4: 41,720,813 (GRCm39) |
R51G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,603,957 (GRCm39) |
V888A |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,870,564 (GRCm39) |
Y619H |
probably damaging |
Het |
| Dnajc9 |
T |
C |
14: 20,438,402 (GRCm39) |
D96G |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,394,164 (GRCm39) |
T143A |
possibly damaging |
Het |
| Eps8 |
T |
A |
6: 137,499,277 (GRCm39) |
K204* |
probably null |
Het |
| Ercc5 |
T |
A |
1: 44,220,035 (GRCm39) |
S1102R |
probably benign |
Het |
| Ergic2 |
T |
A |
6: 148,091,079 (GRCm39) |
Y211F |
possibly damaging |
Het |
| Fam135b |
G |
T |
15: 71,362,560 (GRCm39) |
L274M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,384 (GRCm39) |
T2206I |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,037,720 (GRCm39) |
I3791V |
probably benign |
Het |
| Gemin4 |
A |
G |
11: 76,104,122 (GRCm39) |
M213T |
possibly damaging |
Het |
| Gnai3 |
T |
C |
3: 108,025,723 (GRCm39) |
M119V |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,080,992 (GRCm39) |
L1420Q |
probably damaging |
Het |
| Herc2 |
G |
T |
7: 55,856,513 (GRCm39) |
G3918* |
probably null |
Het |
| Ints9 |
A |
G |
14: 65,269,705 (GRCm39) |
Y465C |
probably damaging |
Het |
| Ist1 |
A |
G |
8: 110,405,515 (GRCm39) |
V175A |
probably damaging |
Het |
| Kcnj12 |
T |
C |
11: 60,960,383 (GRCm39) |
L227P |
possibly damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,536,611 (GRCm39) |
S416G |
probably benign |
Het |
| Kdm3a |
T |
A |
6: 71,590,940 (GRCm39) |
T295S |
probably benign |
Het |
| Kif1c |
T |
A |
11: 70,599,797 (GRCm39) |
M479K |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,933,438 (GRCm39) |
L83P |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,507,624 (GRCm39) |
E1194G |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,595,556 (GRCm39) |
M81V |
probably benign |
Het |
| Map4k5 |
C |
A |
12: 69,871,436 (GRCm39) |
M495I |
probably damaging |
Het |
| Mest |
C |
T |
6: 30,742,790 (GRCm39) |
R146C |
probably benign |
Het |
| Mettl24 |
T |
A |
10: 40,613,812 (GRCm39) |
|
probably null |
Het |
| Mical1 |
T |
C |
10: 41,359,531 (GRCm39) |
S586P |
probably benign |
Het |
| Mrgpra3 |
G |
T |
7: 47,239,694 (GRCm39) |
Y77* |
probably null |
Het |
| Mss51 |
A |
T |
14: 20,533,246 (GRCm39) |
C408* |
probably null |
Het |
| Myh6 |
T |
C |
14: 55,194,858 (GRCm39) |
T666A |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,805,673 (GRCm39) |
C1685R |
possibly damaging |
Het |
| Naip5 |
A |
T |
13: 100,359,726 (GRCm39) |
Y503* |
probably null |
Het |
| Neil1 |
A |
C |
9: 57,053,888 (GRCm39) |
F144C |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,373,001 (GRCm39) |
I1082F |
possibly damaging |
Het |
| Nkiras1 |
T |
C |
14: 18,276,732 (GRCm38) |
V7A |
probably damaging |
Het |
| Nt5el |
C |
A |
13: 105,218,702 (GRCm39) |
A12E |
unknown |
Het |
| Ntng2 |
G |
A |
2: 29,087,069 (GRCm39) |
Q384* |
probably null |
Het |
| Ocrl |
T |
A |
X: 47,050,993 (GRCm39) |
I74N |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,382 (GRCm39) |
V134A |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,622 (GRCm39) |
S24G |
probably benign |
Het |
| Or14j8 |
C |
T |
17: 38,263,276 (GRCm39) |
G213E |
possibly damaging |
Het |
| Or1e22 |
A |
C |
11: 73,377,200 (GRCm39) |
V150G |
probably benign |
Het |
| Or2j3 |
A |
T |
17: 38,616,203 (GRCm39) |
S50T |
probably benign |
Het |
| Or2y1 |
A |
T |
11: 49,385,497 (GRCm39) |
I46F |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,379,827 (GRCm39) |
D151G |
probably benign |
Het |
| Plpbp |
T |
C |
8: 27,539,259 (GRCm39) |
V126A |
probably damaging |
Het |
| Pold2 |
A |
G |
11: 5,823,454 (GRCm39) |
L325P |
possibly damaging |
Het |
| Ppp1r12c |
A |
C |
7: 4,486,650 (GRCm39) |
S480A |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,428,359 (GRCm39) |
S124P |
possibly damaging |
Het |
| Pwp2 |
C |
G |
10: 78,014,925 (GRCm39) |
G353A |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,184,000 (GRCm39) |
Q1666H |
probably damaging |
Het |
| Rnf19a |
T |
C |
15: 36,266,071 (GRCm39) |
I9V |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,784,764 (GRCm39) |
H1063R |
probably benign |
Het |
| Samd14 |
C |
G |
11: 94,914,426 (GRCm39) |
D361E |
probably damaging |
Het |
| Samd15 |
A |
T |
12: 87,248,617 (GRCm39) |
N365I |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,358,882 (GRCm39) |
H105R |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,844,329 (GRCm39) |
S51P |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,789,350 (GRCm39) |
L236Q |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,434,274 (GRCm39) |
T991I |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,687,069 (GRCm39) |
L97* |
probably null |
Het |
| Tab1 |
C |
A |
15: 80,032,497 (GRCm39) |
R35S |
probably benign |
Het |
| Tet3 |
C |
A |
6: 83,381,145 (GRCm39) |
S341I |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,043 (GRCm39) |
D511E |
probably benign |
Het |
| Tmem132b |
A |
C |
5: 125,862,963 (GRCm39) |
D656A |
probably damaging |
Het |
| Tmtc4 |
T |
A |
14: 123,179,400 (GRCm39) |
|
probably null |
Het |
| Trmo |
T |
C |
4: 46,380,158 (GRCm39) |
T404A |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,880,016 (GRCm39) |
K790E |
probably damaging |
Het |
| Ulk4 |
C |
A |
9: 120,997,250 (GRCm39) |
R774M |
probably null |
Het |
| Ush2a |
C |
T |
1: 188,184,015 (GRCm39) |
L1440F |
probably benign |
Het |
| Usp16 |
A |
G |
16: 87,277,795 (GRCm39) |
K682E |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,540,511 (GRCm39) |
S1471P |
probably benign |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,111 (GRCm39) |
I255N |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,076 (GRCm39) |
R230* |
probably null |
Het |
| Vps13c |
T |
A |
9: 67,900,295 (GRCm39) |
F3671L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,231,189 (GRCm39) |
N358S |
possibly damaging |
Het |
| Wdr72 |
A |
G |
9: 74,058,899 (GRCm39) |
K331E |
probably damaging |
Het |
| Zfp986 |
A |
T |
4: 145,625,805 (GRCm39) |
K155I |
probably benign |
Het |
|
| Other mutations in Cacna1h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Cacna1h
|
APN |
17 |
25,600,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Cacna1h
|
APN |
17 |
25,610,924 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01625:Cacna1h
|
APN |
17 |
25,604,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01625:Cacna1h
|
APN |
17 |
25,602,459 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01684:Cacna1h
|
APN |
17 |
25,607,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Cacna1h
|
APN |
17 |
25,602,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01877:Cacna1h
|
APN |
17 |
25,607,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Cacna1h
|
APN |
17 |
25,616,585 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02190:Cacna1h
|
APN |
17 |
25,652,000 (GRCm39) |
missense |
probably benign |
|
|
IGL02686:Cacna1h
|
APN |
17 |
25,604,723 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02883:Cacna1h
|
APN |
17 |
25,599,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02945:Cacna1h
|
APN |
17 |
25,607,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03025:Cacna1h
|
APN |
17 |
25,651,868 (GRCm39) |
nonsense |
probably null |
|
|
IGL03095:Cacna1h
|
APN |
17 |
25,602,752 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03207:Cacna1h
|
APN |
17 |
25,610,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02991:Cacna1h
|
UTSW |
17 |
25,610,286 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03097:Cacna1h
|
UTSW |
17 |
25,610,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Cacna1h
|
UTSW |
17 |
25,599,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Cacna1h
|
UTSW |
17 |
25,599,898 (GRCm39) |
unclassified |
probably benign |
|
|
R0361:Cacna1h
|
UTSW |
17 |
25,608,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0501:Cacna1h
|
UTSW |
17 |
25,607,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Cacna1h
|
UTSW |
17 |
25,600,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0588:Cacna1h
|
UTSW |
17 |
25,606,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Cacna1h
|
UTSW |
17 |
25,612,520 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0811:Cacna1h
|
UTSW |
17 |
25,607,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Cacna1h
|
UTSW |
17 |
25,607,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Cacna1h
|
UTSW |
17 |
25,597,749 (GRCm39) |
unclassified |
probably benign |
|
|
R1351:Cacna1h
|
UTSW |
17 |
25,610,925 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1457:Cacna1h
|
UTSW |
17 |
25,616,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Cacna1h
|
UTSW |
17 |
25,616,328 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1564:Cacna1h
|
UTSW |
17 |
25,596,835 (GRCm39) |
nonsense |
probably null |
|
|
R1611:Cacna1h
|
UTSW |
17 |
25,600,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Cacna1h
|
UTSW |
17 |
25,602,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Cacna1h
|
UTSW |
17 |
25,599,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1887:Cacna1h
|
UTSW |
17 |
25,595,861 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2039:Cacna1h
|
UTSW |
17 |
25,610,819 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2091:Cacna1h
|
UTSW |
17 |
25,651,850 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2133:Cacna1h
|
UTSW |
17 |
25,602,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Cacna1h
|
UTSW |
17 |
25,599,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Cacna1h
|
UTSW |
17 |
25,599,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Cacna1h
|
UTSW |
17 |
25,603,987 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2207:Cacna1h
|
UTSW |
17 |
25,603,987 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2224:Cacna1h
|
UTSW |
17 |
25,604,917 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2226:Cacna1h
|
UTSW |
17 |
25,604,917 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2261:Cacna1h
|
UTSW |
17 |
25,652,139 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2361:Cacna1h
|
UTSW |
17 |
25,602,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2917:Cacna1h
|
UTSW |
17 |
25,614,426 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3031:Cacna1h
|
UTSW |
17 |
25,652,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3856:Cacna1h
|
UTSW |
17 |
25,611,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Cacna1h
|
UTSW |
17 |
25,606,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4408:Cacna1h
|
UTSW |
17 |
25,599,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Cacna1h
|
UTSW |
17 |
25,612,884 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4887:Cacna1h
|
UTSW |
17 |
25,596,261 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4895:Cacna1h
|
UTSW |
17 |
25,608,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5067:Cacna1h
|
UTSW |
17 |
25,616,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Cacna1h
|
UTSW |
17 |
25,594,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5148:Cacna1h
|
UTSW |
17 |
25,606,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:Cacna1h
|
UTSW |
17 |
25,611,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5450:Cacna1h
|
UTSW |
17 |
25,602,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Cacna1h
|
UTSW |
17 |
25,596,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Cacna1h
|
UTSW |
17 |
25,606,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5883:Cacna1h
|
UTSW |
17 |
25,595,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5954:Cacna1h
|
UTSW |
17 |
25,602,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5961:Cacna1h
|
UTSW |
17 |
25,596,246 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6110:Cacna1h
|
UTSW |
17 |
25,610,250 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6125:Cacna1h
|
UTSW |
17 |
25,604,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6189:Cacna1h
|
UTSW |
17 |
25,616,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Cacna1h
|
UTSW |
17 |
25,597,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Cacna1h
|
UTSW |
17 |
25,616,630 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6296:Cacna1h
|
UTSW |
17 |
25,602,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Cacna1h
|
UTSW |
17 |
25,606,455 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6695:Cacna1h
|
UTSW |
17 |
25,612,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Cacna1h
|
UTSW |
17 |
25,600,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Cacna1h
|
UTSW |
17 |
25,604,013 (GRCm39) |
missense |
probably benign |
|
|
R6942:Cacna1h
|
UTSW |
17 |
25,604,013 (GRCm39) |
missense |
probably benign |
|
|
R6955:Cacna1h
|
UTSW |
17 |
25,607,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7041:Cacna1h
|
UTSW |
17 |
25,612,977 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7120:Cacna1h
|
UTSW |
17 |
25,610,481 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7125:Cacna1h
|
UTSW |
17 |
25,602,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7182:Cacna1h
|
UTSW |
17 |
25,596,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Cacna1h
|
UTSW |
17 |
25,603,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Cacna1h
|
UTSW |
17 |
25,597,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Cacna1h
|
UTSW |
17 |
25,608,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7406:Cacna1h
|
UTSW |
17 |
25,604,600 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7634:Cacna1h
|
UTSW |
17 |
25,611,083 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7684:Cacna1h
|
UTSW |
17 |
25,608,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7769:Cacna1h
|
UTSW |
17 |
25,604,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Cacna1h
|
UTSW |
17 |
25,608,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7876:Cacna1h
|
UTSW |
17 |
25,594,225 (GRCm39) |
missense |
probably benign |
|
|
R7898:Cacna1h
|
UTSW |
17 |
25,611,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Cacna1h
|
UTSW |
17 |
25,594,865 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8042:Cacna1h
|
UTSW |
17 |
25,611,445 (GRCm39) |
nonsense |
probably null |
|
|
R8139:Cacna1h
|
UTSW |
17 |
25,602,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Cacna1h
|
UTSW |
17 |
25,596,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8795:Cacna1h
|
UTSW |
17 |
25,612,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Cacna1h
|
UTSW |
17 |
25,599,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Cacna1h
|
UTSW |
17 |
25,599,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9236:Cacna1h
|
UTSW |
17 |
25,600,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Cacna1h
|
UTSW |
17 |
25,594,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9476:Cacna1h
|
UTSW |
17 |
25,611,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Cacna1h
|
UTSW |
17 |
25,612,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Cacna1h
|
UTSW |
17 |
25,602,215 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
V1662:Cacna1h
|
UTSW |
17 |
25,596,283 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1176:Cacna1h
|
UTSW |
17 |
25,610,224 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Cacna1h
|
UTSW |
17 |
25,612,558 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Cacna1h
|
UTSW |
17 |
25,610,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cacna1h
|
UTSW |
17 |
25,594,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTCTCATAGGGGCTGGG -3'
(R):5'- ACAGCTTCTGTGCACCATCTG -3'
Sequencing Primer
(F):5'- CTCAGAGGGCTGTGTGC -3'
(R):5'- GGTCTACCACCACCACCAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation