Incidental Mutation 'R7270:Cacna1h'
| ID |
565263 |
| 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 |
045390-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7270 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25603739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1311
(V1311A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077586
(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: V1311A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: V1311A
| 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: V1205A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: V1205A
| 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 damaging
Transcript: ENSMUST00000159610
AA Change: V1311A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: V1311A
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
A |
T |
10: 42,301,245 (GRCm39) |
Y193N |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Aimp1 |
T |
C |
3: 132,382,772 (GRCm39) |
K44E |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,046,318 (GRCm39) |
Y369N |
unknown |
Het |
| Art5 |
A |
T |
7: 101,747,080 (GRCm39) |
V233D |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,792,836 (GRCm39) |
N431Y |
possibly damaging |
Het |
| Bik |
T |
A |
15: 83,428,364 (GRCm39) |
F131I |
possibly damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,163,082 (GRCm39) |
Y103H |
probably damaging |
Het |
| Cabp7 |
C |
T |
11: 4,696,676 (GRCm39) |
V18M |
possibly damaging |
Het |
| Cacna1a |
C |
A |
8: 85,297,866 (GRCm39) |
T1240N |
probably damaging |
Het |
| Cbarp |
A |
C |
10: 79,973,151 (GRCm39) |
S16A |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ces2b |
A |
T |
8: 105,564,472 (GRCm39) |
H494L |
possibly damaging |
Het |
| Cfap43 |
T |
A |
19: 47,728,224 (GRCm39) |
H1511L |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,675,320 (GRCm39) |
V2867A |
probably benign |
Het |
| Col5a1 |
C |
T |
2: 27,887,597 (GRCm39) |
P956L |
unknown |
Het |
| Dcakd |
T |
G |
11: 102,891,032 (GRCm39) |
Q19P |
possibly damaging |
Het |
| Ddx47 |
T |
A |
6: 135,000,301 (GRCm39) |
D432E |
probably benign |
Het |
| Dhrs7b |
T |
C |
11: 60,735,055 (GRCm39) |
F29L |
probably benign |
Het |
| Dis3l2 |
A |
T |
1: 86,918,025 (GRCm39) |
D558V |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,754,027 (GRCm39) |
D193V |
probably damaging |
Het |
| Eif1ad12 |
T |
C |
12: 87,541,663 (GRCm39) |
L58P |
probably damaging |
Het |
| Epha4 |
G |
A |
1: 77,376,422 (GRCm39) |
R486C |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,842,033 (GRCm39) |
T1404A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,490,475 (GRCm39) |
T3796A |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,518,929 (GRCm39) |
W204R |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,091 (GRCm39) |
I136V |
probably benign |
Het |
| Gm10300 |
T |
C |
4: 131,802,167 (GRCm39) |
W54R |
unknown |
Het |
| Gm10518 |
C |
T |
1: 179,630,949 (GRCm39) |
P3L |
unknown |
Het |
| Grm2 |
G |
A |
9: 106,528,257 (GRCm39) |
T209M |
probably damaging |
Het |
| Gtdc1 |
C |
T |
2: 44,525,322 (GRCm39) |
M176I |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,710,440 (GRCm39) |
L382P |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,708,011 (GRCm39) |
V734A |
possibly damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,638,472 (GRCm39) |
R586H |
probably benign |
Het |
| Kdm1a |
A |
T |
4: 136,279,838 (GRCm39) |
D721E |
probably damaging |
Het |
| Knl1 |
G |
A |
2: 118,933,003 (GRCm39) |
C2054Y |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,584,644 (GRCm39) |
P354S |
probably benign |
Het |
| Luzp2 |
A |
G |
7: 54,724,774 (GRCm39) |
I112V |
probably damaging |
Het |
| Mgl2 |
T |
C |
11: 70,026,506 (GRCm39) |
S105P |
probably damaging |
Het |
| Mocs1 |
T |
A |
17: 49,756,143 (GRCm39) |
M200K |
possibly damaging |
Het |
| Oat |
T |
A |
7: 132,168,927 (GRCm39) |
I98L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,920,312 (GRCm39) |
Y8C |
|
Het |
| Or5b108 |
G |
A |
19: 13,168,768 (GRCm39) |
V246I |
possibly damaging |
Het |
| Or6c1b |
T |
G |
10: 129,273,319 (GRCm39) |
F213V |
probably benign |
Het |
| Pde1b |
T |
A |
15: 103,430,082 (GRCm39) |
M137K |
possibly damaging |
Het |
| Phf21a |
T |
C |
2: 92,157,484 (GRCm39) |
I204T |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,593,838 (GRCm39) |
E321G |
possibly damaging |
Het |
| Plpp7 |
C |
T |
2: 31,985,662 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
A |
G |
10: 44,317,566 (GRCm39) |
I419T |
probably benign |
Het |
| Sec16b |
A |
T |
1: 157,392,032 (GRCm39) |
R855W |
probably damaging |
Het |
| Sec16b |
G |
T |
1: 157,392,033 (GRCm39) |
R855M |
probably damaging |
Het |
| Sec31b |
T |
C |
19: 44,511,482 (GRCm39) |
T640A |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,923,471 (GRCm39) |
T425A |
possibly damaging |
Het |
| Sirpd |
A |
T |
3: 15,385,704 (GRCm39) |
I66N |
probably benign |
Het |
| Skil |
T |
C |
3: 31,151,324 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
G |
A |
7: 16,519,623 (GRCm39) |
V200M |
probably damaging |
Het |
| Slc25a12 |
T |
C |
2: 71,154,369 (GRCm39) |
H139R |
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,961,630 (GRCm39) |
V187D |
probably damaging |
Het |
| Slc35a3 |
G |
A |
3: 116,505,455 (GRCm39) |
|
probably benign |
Het |
| Smap2 |
C |
A |
4: 120,829,264 (GRCm39) |
M328I |
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,600,066 (GRCm39) |
|
probably null |
Het |
| Srarp |
A |
G |
4: 141,160,389 (GRCm39) |
V148A |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,464,755 (GRCm39) |
Y73* |
probably null |
Het |
| Tars1 |
A |
G |
15: 11,392,105 (GRCm39) |
C236R |
probably benign |
Het |
| Tchh |
G |
C |
3: 93,351,837 (GRCm39) |
D426H |
unknown |
Het |
| Tnks2 |
T |
C |
19: 36,836,545 (GRCm39) |
F17S |
|
Het |
| Ube2g1 |
T |
C |
11: 72,553,939 (GRCm39) |
I30T |
possibly damaging |
Het |
| Ube2o |
C |
T |
11: 116,434,761 (GRCm39) |
D567N |
possibly damaging |
Het |
| Unc5b |
A |
T |
10: 60,608,002 (GRCm39) |
Y710* |
probably null |
Het |
| Vmn1r215 |
T |
C |
13: 23,260,089 (GRCm39) |
V43A |
possibly damaging |
Het |
| Xkr8 |
A |
G |
4: 132,455,648 (GRCm39) |
F242L |
probably benign |
Het |
| Zfp526 |
T |
A |
7: 24,925,345 (GRCm39) |
C535S |
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 |
|
|
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 |
|
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'- ATGTAGTTGGAGACGCTGAG -3'
(R):5'- ACAGGTGAGCTGTGGTAAACC -3'
Sequencing Primer
(F):5'- TGAGAAAGGCCCGTTCCTG -3'
(R):5'- TGTGGTAAACCCAGCAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation