Incidental Mutation 'R1521:Cacna1h'
ID |
167052 |
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 |
040870-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1521 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25616328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 184
(M184V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125541
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
[ENSMUST00000159623]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078496
AA Change: M184V
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000077586 Gene: ENSMUSG00000024112 AA Change: M184V
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: M78V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000123741 Gene: ENSMUSG00000024112 AA Change: M78V
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 |
possibly damaging
Transcript: ENSMUST00000159610
AA Change: M184V
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125541 Gene: ENSMUSG00000024112 AA Change: M184V
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 |
probably benign
Transcript: ENSMUST00000159623
|
SMART Domains |
Protein: ENSMUSP00000125664 Gene: ENSMUSG00000024112
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161454
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.6%
|
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: 118 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
A |
G |
8: 112,713,867 (GRCm39) |
L104P |
possibly damaging |
Het |
Adgrf5 |
T |
C |
17: 43,741,443 (GRCm39) |
V360A |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,982,092 (GRCm39) |
M1125I |
probably benign |
Het |
Akap12 |
T |
C |
10: 4,304,804 (GRCm39) |
V538A |
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,242,749 (GRCm39) |
D1088G |
possibly damaging |
Het |
Atp7b |
A |
T |
8: 22,517,689 (GRCm39) |
L268Q |
probably damaging |
Het |
Atxn2 |
A |
C |
5: 121,917,654 (GRCm39) |
N516T |
probably damaging |
Het |
Cacnb2 |
G |
T |
2: 14,619,163 (GRCm39) |
R66L |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,631,867 (GRCm39) |
E96G |
probably damaging |
Het |
Ccdc78 |
G |
T |
17: 26,007,755 (GRCm39) |
R264L |
probably damaging |
Het |
Cdh4 |
G |
A |
2: 179,439,351 (GRCm39) |
R166H |
probably damaging |
Het |
Cog7 |
C |
T |
7: 121,529,797 (GRCm39) |
D615N |
possibly damaging |
Het |
Crtc2 |
T |
C |
3: 90,164,690 (GRCm39) |
V115A |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,874,412 (GRCm39) |
S899P |
probably damaging |
Het |
Ctdnep1 |
T |
A |
11: 69,879,461 (GRCm39) |
V128E |
probably damaging |
Het |
Ctnna3 |
A |
G |
10: 64,795,621 (GRCm39) |
K780E |
probably benign |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Dazap2 |
T |
A |
15: 100,515,946 (GRCm39) |
Y91* |
probably null |
Het |
Dcdc5 |
T |
C |
2: 106,182,014 (GRCm39) |
|
noncoding transcript |
Het |
Dppa1 |
T |
A |
11: 46,501,300 (GRCm39) |
R74S |
possibly damaging |
Het |
Elovl1 |
A |
T |
4: 118,289,197 (GRCm39) |
T241S |
probably benign |
Het |
Eya1 |
G |
T |
1: 14,344,774 (GRCm39) |
Q86K |
probably damaging |
Het |
Fam110d |
T |
C |
4: 133,978,661 (GRCm39) |
*272W |
probably null |
Het |
Fancm |
A |
T |
12: 65,168,478 (GRCm39) |
M1614L |
probably benign |
Het |
Fcgbp |
C |
T |
7: 27,774,585 (GRCm39) |
T53I |
probably benign |
Het |
Fpr3 |
T |
A |
17: 18,191,277 (GRCm39) |
W183R |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,744,657 (GRCm39) |
V119I |
probably benign |
Het |
Garin4 |
T |
A |
1: 190,896,219 (GRCm39) |
R141S |
probably benign |
Het |
Gcfc2 |
T |
C |
6: 81,900,793 (GRCm39) |
S36P |
probably benign |
Het |
Gdap2 |
T |
A |
3: 100,101,931 (GRCm39) |
D412E |
possibly damaging |
Het |
Gm12258 |
T |
C |
11: 58,750,381 (GRCm39) |
C41R |
probably damaging |
Het |
Hipk1 |
T |
G |
3: 103,685,098 (GRCm39) |
E172D |
probably benign |
Het |
Hmgcs1 |
T |
G |
13: 120,165,127 (GRCm39) |
L326R |
probably benign |
Het |
Hs6st1 |
C |
A |
1: 36,107,967 (GRCm39) |
R77S |
probably damaging |
Het |
Ifit3 |
A |
T |
19: 34,564,573 (GRCm39) |
N40Y |
probably damaging |
Het |
Il1a |
T |
A |
2: 129,146,661 (GRCm39) |
Q144L |
possibly damaging |
Het |
Itga7 |
A |
G |
10: 128,793,680 (GRCm39) |
E1128G |
possibly damaging |
Het |
Itih2 |
T |
C |
2: 10,111,558 (GRCm39) |
D460G |
probably damaging |
Het |
Ivns1abp |
G |
A |
1: 151,227,309 (GRCm39) |
C39Y |
probably damaging |
Het |
Kif22 |
G |
T |
7: 126,627,011 (GRCm39) |
A646E |
probably damaging |
Het |
Klhl29 |
T |
C |
12: 5,141,307 (GRCm39) |
Y559C |
probably damaging |
Het |
Klhl7 |
T |
A |
5: 24,354,108 (GRCm39) |
|
probably null |
Het |
Klhl9 |
A |
G |
4: 88,640,230 (GRCm39) |
S4P |
probably benign |
Het |
Klk10 |
A |
G |
7: 43,432,304 (GRCm39) |
Q79R |
probably benign |
Het |
Klk6 |
T |
C |
7: 43,478,699 (GRCm39) |
|
probably null |
Het |
Kpna2rt |
T |
A |
17: 90,217,734 (GRCm39) |
N4I |
possibly damaging |
Het |
Lamc2 |
C |
T |
1: 153,042,009 (GRCm39) |
E42K |
probably benign |
Het |
Lingo3 |
T |
C |
10: 80,671,555 (GRCm39) |
D125G |
probably benign |
Het |
Map1b |
T |
C |
13: 99,569,247 (GRCm39) |
N1158S |
unknown |
Het |
Masp1 |
T |
A |
16: 23,313,387 (GRCm39) |
N183Y |
probably damaging |
Het |
Mdga2 |
A |
G |
12: 66,615,700 (GRCm39) |
Y636H |
probably benign |
Het |
Mical2 |
T |
A |
7: 111,980,817 (GRCm39) |
S264T |
probably damaging |
Het |
Mif |
A |
G |
10: 75,695,375 (GRCm39) |
V95A |
possibly damaging |
Het |
Mmp17 |
G |
A |
5: 129,672,152 (GRCm39) |
|
probably null |
Het |
Mmp23 |
T |
C |
4: 155,735,174 (GRCm39) |
R390G |
possibly damaging |
Het |
Ncoa6 |
A |
C |
2: 155,257,142 (GRCm39) |
S800R |
possibly damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nr2e3 |
A |
T |
9: 59,856,488 (GRCm39) |
S67R |
probably damaging |
Het |
Odf2l |
T |
C |
3: 144,854,797 (GRCm39) |
S545P |
possibly damaging |
Het |
Or10d3 |
A |
T |
9: 39,462,080 (GRCm39) |
V29E |
possibly damaging |
Het |
Or4a47 |
G |
A |
2: 89,665,516 (GRCm39) |
R258* |
probably null |
Het |
Or52s1b |
T |
A |
7: 102,822,658 (GRCm39) |
Y62F |
probably benign |
Het |
Or5k1b |
C |
T |
16: 58,581,216 (GRCm39) |
E108K |
probably damaging |
Het |
Or7e176 |
A |
C |
9: 20,171,728 (GRCm39) |
Q197H |
possibly damaging |
Het |
Or7g27 |
C |
T |
9: 19,249,948 (GRCm39) |
S64F |
probably benign |
Het |
Or8b51 |
T |
G |
9: 38,569,014 (GRCm39) |
I225L |
probably damaging |
Het |
Otog |
A |
T |
7: 45,908,688 (GRCm39) |
H562L |
possibly damaging |
Het |
Pcdh15 |
T |
C |
10: 74,430,023 (GRCm39) |
V1250A |
probably damaging |
Het |
Pde1c |
A |
G |
6: 56,150,592 (GRCm39) |
V309A |
possibly damaging |
Het |
Pfkfb4 |
A |
C |
9: 108,836,373 (GRCm39) |
T134P |
probably damaging |
Het |
Phc3 |
G |
T |
3: 30,990,724 (GRCm39) |
Q498K |
possibly damaging |
Het |
Phlpp1 |
T |
C |
1: 106,320,049 (GRCm39) |
V1348A |
probably damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,309,997 (GRCm39) |
D441G |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,792,239 (GRCm39) |
|
probably null |
Het |
Pla2g4a |
T |
C |
1: 149,733,437 (GRCm39) |
|
probably null |
Het |
Pola2 |
A |
T |
19: 5,998,434 (GRCm39) |
I376N |
probably damaging |
Het |
Pold2 |
T |
A |
11: 5,826,833 (GRCm39) |
N34Y |
probably damaging |
Het |
Ppp2r5c |
T |
C |
12: 110,521,320 (GRCm39) |
L281P |
probably damaging |
Het |
Prss46 |
A |
G |
9: 110,678,703 (GRCm39) |
I29V |
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,788,846 (GRCm39) |
V502E |
probably benign |
Het |
Rdh14 |
T |
C |
12: 10,444,613 (GRCm39) |
F155L |
probably damaging |
Het |
Rnaseh2a |
A |
T |
8: 85,692,487 (GRCm39) |
|
probably null |
Het |
Rpp30 |
A |
G |
19: 36,071,785 (GRCm39) |
T118A |
possibly damaging |
Het |
Rragd |
T |
C |
4: 32,996,005 (GRCm39) |
F117L |
probably damaging |
Het |
Rxylt1 |
A |
G |
10: 121,926,384 (GRCm39) |
W243R |
probably damaging |
Het |
S100a2 |
T |
A |
3: 90,498,599 (GRCm39) |
|
probably null |
Het |
Septin12 |
T |
C |
16: 4,814,340 (GRCm39) |
K43R |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,141,559 (GRCm39) |
E1080G |
probably damaging |
Het |
Slc26a9 |
A |
G |
1: 131,678,415 (GRCm39) |
K27R |
probably damaging |
Het |
Spata17 |
T |
A |
1: 186,926,191 (GRCm39) |
K46N |
probably damaging |
Het |
St14 |
A |
C |
9: 31,019,511 (GRCm39) |
D103E |
probably benign |
Het |
St6galnac2 |
T |
A |
11: 116,575,173 (GRCm39) |
Q222L |
possibly damaging |
Het |
Tdrd9 |
T |
C |
12: 112,002,844 (GRCm39) |
V831A |
probably damaging |
Het |
Tert |
A |
G |
13: 73,790,175 (GRCm39) |
E843G |
probably damaging |
Het |
Tex21 |
A |
G |
12: 76,251,044 (GRCm39) |
V464A |
probably benign |
Het |
Tmem232 |
T |
A |
17: 65,791,496 (GRCm39) |
H124L |
probably damaging |
Het |
Tnfrsf19 |
T |
G |
14: 61,242,555 (GRCm39) |
S110R |
probably damaging |
Het |
Tnnt3 |
A |
T |
7: 142,069,562 (GRCm39) |
K272* |
probably null |
Het |
Tnxb |
T |
C |
17: 34,930,477 (GRCm39) |
L2054P |
probably damaging |
Het |
Trcg1 |
A |
C |
9: 57,149,748 (GRCm39) |
D440A |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,878,585 (GRCm39) |
E504G |
probably damaging |
Het |
Trpm5 |
C |
T |
7: 142,636,626 (GRCm39) |
R437H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,571,511 (GRCm39) |
R18134G |
probably damaging |
Het |
Uchl5 |
A |
C |
1: 143,674,160 (GRCm39) |
M64L |
possibly damaging |
Het |
Urb1 |
G |
A |
16: 90,550,751 (GRCm39) |
R2034W |
probably damaging |
Het |
Usp44 |
T |
A |
10: 93,683,048 (GRCm39) |
C452* |
probably null |
Het |
Uvssa |
G |
A |
5: 33,571,278 (GRCm39) |
A641T |
probably damaging |
Het |
Vmn1r204 |
T |
A |
13: 22,741,248 (GRCm39) |
I293N |
probably benign |
Het |
Vmn2r84 |
A |
T |
10: 130,225,137 (GRCm39) |
C458S |
probably benign |
Het |
Vmn2r85 |
T |
G |
10: 130,261,788 (GRCm39) |
H183P |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,832,431 (GRCm39) |
T2825K |
probably benign |
Het |
Zc3hc1 |
T |
A |
6: 30,376,024 (GRCm39) |
I179F |
probably benign |
Het |
Zfp112 |
A |
G |
7: 23,825,210 (GRCm39) |
N393D |
probably damaging |
Het |
Zfp558 |
A |
G |
9: 18,367,859 (GRCm39) |
S310P |
possibly damaging |
Het |
Zfp560 |
A |
C |
9: 20,260,071 (GRCm39) |
|
probably null |
Het |
Zfp668 |
C |
T |
7: 127,466,252 (GRCm39) |
E311K |
probably benign |
Het |
Zfp763 |
T |
A |
17: 33,252,276 (GRCm39) |
M1L |
probably benign |
Het |
Zfp947 |
A |
T |
17: 22,364,813 (GRCm39) |
M287K |
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 |
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 |
R1835:Cacna1h
|
UTSW |
17 |
25,611,050 (GRCm39) |
missense |
probably benign |
0.01 |
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'- TCCAGGTGCTATGCAAACGAGGAG -3'
(R):5'- GGACTGTTCGGCCAGAAATGCTAC -3'
Sequencing Primer
(F):5'- CTGGGACTACCCTAGAAAGGC -3'
(R):5'- AACAGGCTGGACTTCTTCATTG -3'
|
Posted On |
2014-04-13 |