Incidental Mutation 'R1611:Cacna1h'
| ID |
176827 |
| 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 |
039648-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1611 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25600445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1632
(I1632T)
|
| 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 damaging
Transcript: ENSMUST00000078496
AA Change: I1632T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: I1632T
| 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: I1526T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: I1526T
| 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 |
noncoding transcript
Transcript: ENSMUST00000159331
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159610
AA Change: I1632T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: I1632T
| 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: ENSMUST00000161035
|
| SMART Domains |
Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
1 |
73 |
2.1e-9 |
PFAM |
|
Pfam:Ion_trans
|
72 |
170 |
2.8e-17 |
PFAM |
|
Blast:Tryp_SPc
|
209 |
291 |
3e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161658
|
| Meta Mutation Damage Score |
0.6506 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| Validation Efficiency |
97% (75/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,216,390 (GRCm39) |
I186F |
possibly damaging |
Het |
| Actr6 |
T |
A |
10: 89,568,064 (GRCm39) |
K14* |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,707,236 (GRCm39) |
V1390E |
probably damaging |
Het |
| Akap1 |
C |
T |
11: 88,736,104 (GRCm39) |
R186K |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,109,984 (GRCm39) |
V99D |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,320,051 (GRCm39) |
G407S |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,515,489 (GRCm39) |
M401V |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bclaf1 |
T |
C |
10: 20,198,998 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
A |
10: 74,961,034 (GRCm39) |
|
probably null |
Het |
| Bivm |
T |
C |
1: 44,165,907 (GRCm39) |
I119T |
possibly damaging |
Het |
| Capn9 |
G |
A |
8: 125,338,251 (GRCm39) |
V537M |
possibly damaging |
Het |
| Cdk11b |
G |
A |
4: 155,726,032 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
T |
A |
1: 132,050,113 (GRCm39) |
I21F |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,224,777 (GRCm39) |
T271A |
probably benign |
Het |
| Chrm5 |
T |
C |
2: 112,309,532 (GRCm39) |
N528S |
possibly damaging |
Het |
| Cpsf6 |
T |
A |
10: 117,197,733 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
T |
C |
7: 44,609,536 (GRCm39) |
T689A |
probably benign |
Het |
| D030068K23Rik |
T |
C |
8: 109,975,935 (GRCm39) |
Y64C |
unknown |
Het |
| Ddb1 |
T |
A |
19: 10,604,128 (GRCm39) |
|
probably null |
Het |
| Ddb1 |
T |
A |
19: 10,590,252 (GRCm39) |
C260S |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 33,148,297 (GRCm39) |
Q1478K |
probably damaging |
Het |
| Diaph1 |
A |
C |
18: 38,033,755 (GRCm39) |
M247R |
unknown |
Het |
| Dnai3 |
T |
C |
3: 145,801,113 (GRCm39) |
Y115C |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 141,636,694 (GRCm39) |
S299G |
probably benign |
Het |
| Erbb4 |
C |
A |
1: 68,079,547 (GRCm39) |
G1178C |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,186,091 (GRCm39) |
I370N |
possibly damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Gm12353 |
T |
A |
4: 19,631,843 (GRCm39) |
Y27* |
probably null |
Het |
| Gnl1 |
C |
T |
17: 36,298,441 (GRCm39) |
T395I |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,504 (GRCm39) |
T554I |
probably damaging |
Het |
| Hsd17b11 |
T |
C |
5: 104,157,765 (GRCm39) |
I116V |
probably benign |
Het |
| Inava |
G |
A |
1: 136,143,855 (GRCm39) |
P527L |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,423,552 (GRCm39) |
V233E |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,321,992 (GRCm39) |
T673A |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,564,309 (GRCm39) |
|
probably null |
Het |
| Lipg |
T |
C |
18: 75,081,130 (GRCm39) |
N317S |
possibly damaging |
Het |
| Lpin1 |
A |
T |
12: 16,627,219 (GRCm39) |
L109Q |
probably null |
Het |
| Lyst |
A |
G |
13: 13,809,482 (GRCm39) |
E384G |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,980,671 (GRCm39) |
I105N |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
| Naa35 |
G |
T |
13: 59,776,747 (GRCm39) |
R574L |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,187,084 (GRCm39) |
|
probably benign |
Het |
| Nedd9 |
T |
A |
13: 41,470,406 (GRCm39) |
D249V |
probably benign |
Het |
| Nsg1 |
T |
A |
5: 38,296,060 (GRCm39) |
K38* |
probably null |
Het |
| Nup155 |
T |
A |
15: 8,159,644 (GRCm39) |
D518E |
probably damaging |
Het |
| Or5i1 |
T |
A |
2: 87,612,968 (GRCm39) |
I28N |
probably benign |
Het |
| Ovol1 |
T |
A |
19: 5,601,098 (GRCm39) |
H231L |
probably damaging |
Het |
| Parg |
A |
G |
14: 31,960,527 (GRCm39) |
I586V |
probably damaging |
Het |
| Pde7b |
T |
C |
10: 20,310,236 (GRCm39) |
N242S |
probably benign |
Het |
| Pias3 |
T |
A |
3: 96,607,013 (GRCm39) |
|
probably null |
Het |
| Pramel13 |
A |
T |
4: 144,119,382 (GRCm39) |
V395E |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,093,430 (GRCm39) |
V404A |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,223,862 (GRCm39) |
Y339C |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,442,625 (GRCm39) |
L259P |
probably damaging |
Het |
| Rps6ka5 |
C |
G |
12: 100,537,111 (GRCm39) |
V540L |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,483,850 (GRCm39) |
D3966N |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,373,771 (GRCm39) |
S1163R |
probably benign |
Het |
| Serpinb9g |
T |
C |
13: 33,676,857 (GRCm39) |
I213T |
possibly damaging |
Het |
| Sil1 |
A |
T |
18: 35,402,141 (GRCm39) |
V331E |
possibly damaging |
Het |
| Ski |
A |
G |
4: 155,244,395 (GRCm39) |
F410S |
probably damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
| Slfnl1 |
A |
G |
4: 120,390,574 (GRCm39) |
E75G |
probably benign |
Het |
| Sp1 |
T |
A |
15: 102,339,370 (GRCm39) |
I436N |
probably damaging |
Het |
| Taf4b |
A |
T |
18: 14,977,526 (GRCm39) |
E766V |
probably null |
Het |
| Tgfbr1 |
A |
G |
4: 47,396,526 (GRCm39) |
Y180C |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,868,035 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,011,958 (GRCm39) |
C606* |
probably null |
Het |
| Zfp341 |
C |
A |
2: 154,487,623 (GRCm39) |
H702Q |
probably damaging |
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 |
|
|
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'- ATCAGTGTCCACACTTGCAGACAG -3'
(R):5'- TAGCACTCCAGATTGAGGTCAGGG -3'
Sequencing Primer
(F):5'- gcagacaggcaggcagg -3'
(R):5'- AGGGCTTCTGTCTGGCAAAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation