Incidental Mutation 'R0361:Cacna1h'
ID |
30147 |
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 |
038567-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0361 (G1)
|
Quality Score |
219 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25608396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 731
(M731T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078496
AA Change: M837T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000077586 Gene: ENSMUSG00000024112 AA Change: M837T
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 damaging
Transcript: ENSMUST00000159048
AA Change: M731T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000123741 Gene: ENSMUSG00000024112 AA Change: M731T
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: M837T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125541 Gene: ENSMUSG00000024112 AA Change: M837T
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: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
100% (1/1) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
G |
3: 124,207,283 (GRCm39) |
T303P |
possibly damaging |
Het |
1700010I14Rik |
G |
T |
17: 9,211,378 (GRCm39) |
V176L |
probably benign |
Het |
1700034J05Rik |
T |
C |
6: 146,853,869 (GRCm39) |
T262A |
possibly damaging |
Het |
Adgrl3 |
A |
T |
5: 81,908,544 (GRCm39) |
I1165F |
probably damaging |
Het |
Ankhd1 |
T |
C |
18: 36,780,267 (GRCm39) |
I1773T |
probably damaging |
Het |
Api5 |
A |
T |
2: 94,253,842 (GRCm39) |
L287* |
probably null |
Het |
Apol10b |
A |
T |
15: 77,469,586 (GRCm39) |
M197K |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,424 (GRCm39) |
R63W |
probably damaging |
Het |
Cav1 |
C |
A |
6: 17,339,352 (GRCm39) |
R146S |
possibly damaging |
Het |
Cdhr2 |
A |
T |
13: 54,881,820 (GRCm39) |
I1118F |
probably damaging |
Het |
Cdk7 |
A |
T |
13: 100,848,062 (GRCm39) |
Y153* |
probably null |
Het |
Cemip |
A |
G |
7: 83,613,218 (GRCm39) |
I660T |
probably benign |
Het |
Cfap65 |
A |
T |
1: 74,964,599 (GRCm39) |
L518Q |
probably damaging |
Het |
Cgas |
T |
A |
9: 78,340,534 (GRCm39) |
K399N |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,366,467 (GRCm39) |
H176R |
probably benign |
Het |
Cstdc4 |
T |
C |
16: 36,004,648 (GRCm39) |
S7P |
probably damaging |
Het |
Cux1 |
T |
A |
5: 136,308,351 (GRCm39) |
I1263F |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,044,258 (GRCm39) |
M1867T |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,388,327 (GRCm39) |
L202P |
probably damaging |
Het |
Dyrk3 |
A |
G |
1: 131,057,769 (GRCm39) |
S100P |
probably benign |
Het |
Efr3b |
A |
T |
12: 4,027,923 (GRCm39) |
S376T |
probably benign |
Het |
Eps8l2 |
A |
C |
7: 140,936,112 (GRCm39) |
N222T |
probably benign |
Het |
Ermp1 |
A |
T |
19: 29,608,806 (GRCm39) |
Y158N |
probably damaging |
Het |
Fam13a |
A |
G |
6: 58,964,159 (GRCm39) |
V91A |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,909,699 (GRCm39) |
V2101A |
possibly damaging |
Het |
Fsip2 |
T |
C |
2: 82,805,849 (GRCm39) |
S723P |
possibly damaging |
Het |
Garem1 |
G |
T |
18: 21,432,801 (GRCm39) |
C9* |
probably null |
Het |
Gdpd5 |
A |
G |
7: 99,107,997 (GRCm39) |
I530V |
possibly damaging |
Het |
Gm15217 |
T |
A |
14: 46,617,841 (GRCm39) |
|
probably benign |
Het |
Gm4922 |
T |
C |
10: 18,659,289 (GRCm39) |
T478A |
probably benign |
Het |
H2-M5 |
A |
G |
17: 37,298,328 (GRCm39) |
I329T |
possibly damaging |
Het |
Ing4 |
G |
A |
6: 125,024,857 (GRCm39) |
C200Y |
probably damaging |
Het |
Kcnip1 |
A |
T |
11: 33,793,177 (GRCm39) |
M5K |
probably benign |
Het |
Kdsr |
T |
C |
1: 106,675,517 (GRCm39) |
E102G |
probably damaging |
Het |
Krt15 |
C |
T |
11: 100,024,007 (GRCm39) |
V346M |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrrc55 |
A |
T |
2: 85,026,589 (GRCm39) |
M145K |
probably damaging |
Het |
Lrrtm2 |
A |
G |
18: 35,345,985 (GRCm39) |
I439T |
probably benign |
Het |
Map2k6 |
T |
C |
11: 110,390,335 (GRCm39) |
F290L |
probably damaging |
Het |
Me1 |
T |
A |
9: 86,533,055 (GRCm39) |
I136F |
probably damaging |
Het |
Mfap2 |
A |
G |
4: 140,742,294 (GRCm39) |
D98G |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mst1 |
T |
C |
9: 107,962,096 (GRCm39) |
F696L |
probably damaging |
Het |
Mta1 |
A |
G |
12: 113,096,961 (GRCm39) |
|
probably null |
Het |
Myh15 |
A |
T |
16: 48,934,368 (GRCm39) |
N645I |
probably benign |
Het |
Myo7b |
T |
A |
18: 32,147,262 (GRCm39) |
I94F |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,890,799 (GRCm39) |
S607T |
probably benign |
Het |
Noa1 |
G |
A |
5: 77,445,020 (GRCm39) |
Q600* |
probably null |
Het |
Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
Oas2 |
A |
T |
5: 120,876,466 (GRCm39) |
F492L |
probably damaging |
Het |
Olfm3 |
T |
A |
3: 114,914,622 (GRCm39) |
D211E |
probably damaging |
Het |
Or2y17 |
A |
T |
11: 49,231,641 (GRCm39) |
Y94F |
probably benign |
Het |
Osmr |
A |
G |
15: 6,871,432 (GRCm39) |
|
probably null |
Het |
Plagl2 |
A |
T |
2: 153,073,523 (GRCm39) |
D459E |
probably benign |
Het |
Plch2 |
T |
C |
4: 155,091,168 (GRCm39) |
D148G |
possibly damaging |
Het |
Plxnc1 |
C |
A |
10: 94,700,869 (GRCm39) |
C605F |
probably damaging |
Het |
Ppm1m |
T |
C |
9: 106,075,325 (GRCm39) |
E108G |
probably damaging |
Het |
Prr14l |
A |
C |
5: 32,950,985 (GRCm39) |
L1936R |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,723,354 (GRCm39) |
I1771T |
possibly damaging |
Het |
Rhobtb2 |
T |
C |
14: 70,033,357 (GRCm39) |
T538A |
probably benign |
Het |
Rictor |
A |
G |
15: 6,813,588 (GRCm39) |
N1025D |
possibly damaging |
Het |
Sec23a |
T |
G |
12: 59,037,804 (GRCm39) |
D324A |
probably damaging |
Het |
Srgap1 |
A |
T |
10: 121,883,097 (GRCm39) |
M1K |
probably null |
Het |
Syne2 |
T |
A |
12: 75,965,384 (GRCm39) |
F801I |
probably benign |
Het |
Synrg |
T |
A |
11: 83,915,163 (GRCm39) |
|
probably null |
Het |
Tas2r140 |
T |
G |
6: 40,468,232 (GRCm39) |
F21V |
probably benign |
Het |
Tmem260 |
A |
T |
14: 48,689,504 (GRCm39) |
T108S |
possibly damaging |
Het |
Trim2 |
T |
C |
3: 84,098,083 (GRCm39) |
Y406C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,673,746 (GRCm39) |
|
probably benign |
Het |
Vmn1r53 |
A |
T |
6: 90,201,064 (GRCm39) |
S87T |
possibly damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,564,196 (GRCm39) |
Y123N |
probably benign |
Het |
Vmn2r28 |
T |
A |
7: 5,496,715 (GRCm39) |
I46F |
probably benign |
Het |
Zan |
T |
C |
5: 137,395,028 (GRCm39) |
T4381A |
unknown |
Het |
Zfp457 |
A |
G |
13: 67,440,710 (GRCm39) |
F622L |
probably damaging |
Het |
Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
probably benign |
Het |
Zfy1 |
T |
C |
Y: 726,121 (GRCm39) |
H548R |
possibly damaging |
Het |
Zmym4 |
A |
T |
4: 126,804,938 (GRCm39) |
S441T |
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 |
|
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 |
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'- TGCTATTGTAAATGCAACCCCACCC -3'
(R):5'- GCCAGAGAAGCCGACTGTCTTATC -3'
Sequencing Primer
(F):5'- GACCAGTAAGGATTCCTCTGC -3'
(R):5'- TGTCTTATCTAGACGAGACAGCC -3'
|
Posted On |
2013-04-24 |