Incidental Mutation 'R1564:Cacna1h'
| ID |
175154 |
| 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 |
039603-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1564 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 25596835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 80
(C80*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024999]
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
[ENSMUST00000160377]
[ENSMUST00000160485]
[ENSMUST00000160920]
[ENSMUST00000162021]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024999
|
| SMART Domains |
Protein: ENSMUSP00000024999
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
29 |
257 |
1.06e-87 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000078496
AA Change: C1787*
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: C1787*
| 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 null
Transcript: ENSMUST00000159048
AA Change: C1681*
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: C1681*
| 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 null
Transcript: ENSMUST00000159610
AA Change: C1787*
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: C1787*
| 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: ENSMUST00000160377
|
| SMART Domains |
Protein: ENSMUSP00000124008
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160485
|
| SMART Domains |
Protein: ENSMUSP00000124721
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161035
AA Change: C80*
|
| SMART Domains |
Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112
AA Change: C80*
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160920
|
| SMART Domains |
Protein: ENSMUSP00000123828
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
184 |
7.18e-44 |
SMART |
|
transmembrane domain
|
201 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162021
|
| SMART Domains |
Protein: ENSMUSP00000125180
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
5 |
111 |
2.35e-4 |
SMART |
|
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,384,316 (GRCm39) |
Q3923* |
probably null |
Het |
| Abcc12 |
T |
A |
8: 87,244,115 (GRCm39) |
T1013S |
probably benign |
Het |
| Acad9 |
T |
C |
3: 36,143,578 (GRCm39) |
I558T |
possibly damaging |
Het |
| Agbl4 |
C |
A |
4: 110,812,761 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
T |
6: 34,283,470 (GRCm39) |
|
probably null |
Het |
| Aktip |
A |
G |
8: 91,857,709 (GRCm39) |
M1T |
probably null |
Het |
| Apc |
G |
T |
18: 34,448,202 (GRCm39) |
Q1665H |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,467,452 (GRCm39) |
D1916G |
probably damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,609,817 (GRCm39) |
V365A |
probably benign |
Het |
| Bank1 |
C |
A |
3: 135,919,602 (GRCm39) |
E265* |
probably null |
Het |
| Bbs7 |
A |
T |
3: 36,629,944 (GRCm39) |
D578E |
probably damaging |
Het |
| Bin3 |
T |
C |
14: 70,372,218 (GRCm39) |
F172L |
probably damaging |
Het |
| Bves |
A |
G |
10: 45,245,377 (GRCm39) |
D350G |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,218,156 (GRCm39) |
F164L |
possibly damaging |
Het |
| Cenpj |
T |
C |
14: 56,789,523 (GRCm39) |
D842G |
probably benign |
Het |
| Col12a1 |
C |
A |
9: 79,521,122 (GRCm39) |
R2781L |
probably damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,724,024 (GRCm39) |
C213* |
probably null |
Het |
| Defb33 |
T |
A |
8: 21,387,597 (GRCm39) |
C45S |
possibly damaging |
Het |
| Dolk |
A |
T |
2: 30,175,633 (GRCm39) |
N137K |
probably damaging |
Het |
| Fam171b |
G |
A |
2: 83,710,628 (GRCm39) |
E767K |
probably damaging |
Het |
| Fbxl20 |
A |
T |
11: 97,989,312 (GRCm39) |
D189E |
probably damaging |
Het |
| Gm10643 |
A |
T |
8: 84,791,111 (GRCm39) |
M1K |
probably null |
Het |
| Gm572 |
T |
G |
4: 148,735,643 (GRCm39) |
I24S |
possibly damaging |
Het |
| Gnpda1 |
A |
G |
18: 38,471,142 (GRCm39) |
|
probably null |
Het |
| Gpr141b |
T |
C |
13: 19,913,470 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
G |
T |
2: 180,875,021 (GRCm39) |
N1824K |
probably benign |
Het |
| Insl3 |
G |
T |
8: 72,142,935 (GRCm39) |
A99S |
possibly damaging |
Het |
| Lpin2 |
G |
A |
17: 71,532,055 (GRCm39) |
V137I |
probably benign |
Het |
| Lrrc9 |
A |
G |
12: 72,533,827 (GRCm39) |
E1032G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,353,150 (GRCm39) |
T1510A |
probably benign |
Het |
| Mnd1 |
T |
C |
3: 84,023,738 (GRCm39) |
E116G |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,287 (GRCm39) |
|
probably null |
Het |
| Myoz3 |
G |
A |
18: 60,713,914 (GRCm39) |
S23L |
probably benign |
Het |
| Napsa |
G |
T |
7: 44,236,073 (GRCm39) |
V371F |
probably damaging |
Het |
| Nefh |
T |
C |
11: 4,889,878 (GRCm39) |
T914A |
unknown |
Het |
| Neurod2 |
A |
T |
11: 98,218,250 (GRCm39) |
C305S |
probably damaging |
Het |
| Nmnat3 |
T |
C |
9: 98,236,219 (GRCm39) |
|
probably null |
Het |
| Nuf2 |
A |
G |
1: 169,326,362 (GRCm39) |
V463A |
unknown |
Het |
| Olfml1 |
A |
T |
7: 107,170,346 (GRCm39) |
T78S |
possibly damaging |
Het |
| Opcml |
G |
A |
9: 28,814,612 (GRCm39) |
C288Y |
probably damaging |
Het |
| Oprl1 |
T |
C |
2: 181,360,733 (GRCm39) |
I222T |
possibly damaging |
Het |
| Or13a28 |
G |
A |
7: 140,217,967 (GRCm39) |
V118I |
probably benign |
Het |
| Or4c104 |
A |
T |
2: 88,587,000 (GRCm39) |
N6K |
possibly damaging |
Het |
| Or4c122 |
G |
T |
2: 89,080,016 (GRCm39) |
N7K |
probably benign |
Het |
| Or6c210 |
T |
C |
10: 129,495,884 (GRCm39) |
F70L |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,632,120 (GRCm39) |
Y349H |
probably damaging |
Het |
| Pla2g4d |
C |
A |
2: 120,099,384 (GRCm39) |
R706L |
possibly damaging |
Het |
| Pmm1 |
A |
G |
15: 81,840,401 (GRCm39) |
Y55H |
probably damaging |
Het |
| Polb |
A |
G |
8: 23,120,357 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
T |
C |
13: 22,167,523 (GRCm39) |
I598T |
possibly damaging |
Het |
| Pxmp2 |
C |
T |
5: 110,429,062 (GRCm39) |
|
probably null |
Het |
| Rbm39 |
G |
T |
2: 155,996,177 (GRCm39) |
L403I |
probably benign |
Het |
| Rec8 |
T |
C |
14: 55,859,732 (GRCm39) |
|
probably null |
Het |
| Reck |
T |
C |
4: 43,912,061 (GRCm39) |
I190T |
probably benign |
Het |
| Rer1 |
A |
T |
4: 155,160,050 (GRCm39) |
I166N |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,792,567 (GRCm39) |
K60* |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,859,768 (GRCm39) |
T152M |
probably damaging |
Het |
| Scgb1b2 |
A |
T |
7: 30,991,200 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
C |
A |
2: 65,344,979 (GRCm39) |
R503M |
probably damaging |
Het |
| Scn4a |
C |
A |
11: 106,236,367 (GRCm39) |
D298Y |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,648 (GRCm39) |
F1679S |
probably damaging |
Het |
| Scyl3 |
G |
T |
1: 163,767,553 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
A |
G |
7: 128,368,005 (GRCm39) |
|
probably null |
Het |
| She |
C |
T |
3: 89,756,921 (GRCm39) |
A325V |
possibly damaging |
Het |
| Skint2 |
T |
G |
4: 112,483,195 (GRCm39) |
M200R |
probably damaging |
Het |
| Slc17a5 |
A |
T |
9: 78,485,981 (GRCm39) |
C35S |
probably damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,070,819 (GRCm39) |
S393T |
probably damaging |
Het |
| Slc6a19 |
C |
T |
13: 73,834,243 (GRCm39) |
V320M |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,674,249 (GRCm39) |
D579G |
possibly damaging |
Het |
| Spats2l |
C |
T |
1: 57,985,383 (GRCm39) |
R479C |
probably damaging |
Het |
| Syngr3 |
G |
C |
17: 24,905,642 (GRCm39) |
|
probably null |
Het |
| Tas2r107 |
A |
C |
6: 131,636,785 (GRCm39) |
I88R |
probably damaging |
Het |
| Them7 |
A |
T |
2: 105,128,259 (GRCm39) |
N80I |
probably damaging |
Het |
| Tmprss7 |
C |
T |
16: 45,482,516 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
A |
G |
15: 80,764,369 (GRCm39) |
N624D |
possibly damaging |
Het |
| Trpm2 |
T |
G |
10: 77,778,833 (GRCm39) |
I378L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,554,876 (GRCm39) |
W30676L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,774,384 (GRCm39) |
V2220A |
unknown |
Het |
| Uba6 |
T |
C |
5: 86,302,266 (GRCm39) |
T134A |
probably benign |
Het |
| Vmn2r55 |
A |
G |
7: 12,418,678 (GRCm39) |
S81P |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,975,548 (GRCm39) |
S606T |
probably damaging |
Het |
| Zfp653 |
C |
A |
9: 21,967,155 (GRCm39) |
A577S |
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 |
|
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'- CTTCACGGGTACATTCACGGAGAG -3'
(R):5'- TGGCATCTACCATCCATGAGCAGAG -3'
Sequencing Primer
(F):5'- GTACATTCACGGAGAGTATCCTG -3'
(R):5'- AGCTCAGACAGTGGTGTCTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation