Incidental Mutation 'R1887:Cacna1h'
| ID |
209688 |
| 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 |
039908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1887 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25595861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1875
(Y1875C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123741
(fasta)
|
| 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 benign
Transcript: ENSMUST00000078496
AA Change: T1999A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: T1999A
| 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: Y1875C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: Y1875C
| 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 benign
Transcript: ENSMUST00000159610
AA Change: T1999A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: T1999A
| 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 |
unknown
Transcript: ENSMUST00000161035
AA Change: T292A
|
| SMART Domains |
Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112
AA Change: T292A
| 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: 97.1%
- 3x: 96.1%
- 10x: 93.2%
- 20x: 86.9%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| 1700102P08Rik |
T |
A |
9: 108,270,809 (GRCm39) |
D124E |
possibly damaging |
Het |
| 4930544D05Rik |
A |
G |
11: 70,507,249 (GRCm39) |
E98G |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,980,768 (GRCm39) |
M90K |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,849,769 (GRCm39) |
|
probably null |
Het |
| Adora3 |
A |
C |
3: 105,812,152 (GRCm39) |
N13H |
possibly damaging |
Het |
| Aen |
A |
T |
7: 78,557,073 (GRCm39) |
D307V |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,193,287 (GRCm39) |
N126I |
probably benign |
Het |
| Ankmy2 |
T |
A |
12: 36,220,467 (GRCm39) |
M51K |
possibly damaging |
Het |
| Antkmt |
C |
A |
17: 26,010,319 (GRCm39) |
|
probably null |
Het |
| Apc |
A |
G |
18: 34,405,521 (GRCm39) |
E159G |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,282,081 (GRCm39) |
S4R |
probably damaging |
Het |
| Atg2b |
G |
A |
12: 105,620,351 (GRCm39) |
T784M |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,862,324 (GRCm39) |
N59D |
probably damaging |
Het |
| Capza1 |
A |
T |
3: 104,747,096 (GRCm39) |
|
probably null |
Het |
| Ccdc81 |
T |
C |
7: 89,515,819 (GRCm39) |
E620G |
possibly damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,959,899 (GRCm39) |
F105L |
probably damaging |
Het |
| Cdhr18 |
A |
C |
14: 13,828,607 (GRCm38) |
Y718D |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,462,225 (GRCm39) |
M58K |
probably benign |
Het |
| Comtd1 |
A |
G |
14: 21,897,809 (GRCm39) |
L108P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,788,075 (GRCm39) |
Y401C |
probably damaging |
Het |
| Dap3 |
A |
G |
3: 88,838,281 (GRCm39) |
L86P |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
| Eea1 |
T |
A |
10: 95,854,073 (GRCm39) |
|
probably null |
Het |
| Eeig1 |
T |
A |
2: 32,450,140 (GRCm39) |
N129K |
possibly damaging |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,221,380 (GRCm39) |
V157A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,878,357 (GRCm39) |
I3375F |
probably damaging |
Het |
| Fmod |
A |
G |
1: 133,968,551 (GRCm39) |
E197G |
possibly damaging |
Het |
| Fsd1l |
T |
C |
4: 53,696,984 (GRCm39) |
|
probably null |
Het |
| Gbp2b |
A |
G |
3: 142,314,063 (GRCm39) |
T448A |
probably benign |
Het |
| Gpatch1 |
A |
T |
7: 35,002,813 (GRCm39) |
N232K |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,113 (GRCm39) |
R128G |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,924,623 (GRCm39) |
I435V |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,270,473 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,785 (GRCm39) |
D231E |
possibly damaging |
Het |
| Irag1 |
A |
G |
7: 110,523,740 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
T |
A |
1: 140,511,985 (GRCm39) |
S1023T |
probably damaging |
Het |
| Klc2 |
A |
G |
19: 5,158,640 (GRCm39) |
V618A |
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,485 (GRCm39) |
D221G |
probably damaging |
Het |
| Mdn1 |
G |
C |
4: 32,742,540 (GRCm39) |
R3926P |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,642 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,098 (GRCm39) |
L869Q |
probably damaging |
Het |
| Mob3a |
G |
A |
10: 80,527,068 (GRCm39) |
Q86* |
probably null |
Het |
| Ncoa7 |
T |
C |
10: 30,524,448 (GRCm39) |
N823S |
possibly damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,116,909 (GRCm39) |
V211D |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,290,729 (GRCm39) |
M433K |
possibly damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,360,100 (GRCm39) |
S310G |
possibly damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,985 (GRCm39) |
N7D |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,617 (GRCm39) |
F28L |
possibly damaging |
Het |
| Pdlim7 |
C |
T |
13: 55,653,981 (GRCm39) |
G212D |
probably benign |
Het |
| Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
| Pik3cd |
T |
A |
4: 149,737,091 (GRCm39) |
I902F |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,468,517 (GRCm39) |
T198A |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,647,499 (GRCm39) |
V3641A |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,265,839 (GRCm39) |
V475A |
probably benign |
Het |
| Rpl37 |
C |
T |
15: 5,148,072 (GRCm39) |
T83M |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,788,223 (GRCm39) |
Y51C |
probably damaging |
Het |
| Serinc5 |
A |
T |
13: 92,838,214 (GRCm39) |
D340V |
possibly damaging |
Het |
| Stambpl1 |
A |
G |
19: 34,213,808 (GRCm39) |
I346V |
probably benign |
Het |
| Syna |
G |
A |
5: 134,588,106 (GRCm39) |
S281L |
probably benign |
Het |
| Tcstv2a |
G |
T |
13: 120,725,604 (GRCm39) |
K89N |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,193,094 (GRCm39) |
T447A |
possibly damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,874 (GRCm39) |
F592L |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,160,310 (GRCm39) |
F176I |
possibly damaging |
Het |
| Trip4 |
T |
A |
9: 65,782,163 (GRCm39) |
I190F |
probably null |
Het |
| Ttc6 |
T |
A |
12: 57,720,044 (GRCm39) |
S872T |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,871 (GRCm39) |
L419P |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,132,177 (GRCm39) |
Q800K |
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,565,007 (GRCm39) |
I298T |
possibly damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,288 (GRCm39) |
T320A |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,820,376 (GRCm39) |
R860G |
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 |
|
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'- GGATACCTGTAGCATCTTGGG -3'
(R):5'- ATCTCTTCGGGTGTGGACTC -3'
Sequencing Primer
(F):5'- TTGGGCCTCAAGCATGCTAAC -3'
(R):5'- AAATTGGGCAGCGTGGC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation