Incidental Mutation 'R7274:Cacna1h'
ID |
565486 |
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 |
067851-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7274 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25597811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 1761
(F1761S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077586
(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 damaging
Transcript: ENSMUST00000078496
AA Change: F1761S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077586 Gene: ENSMUSG00000024112 AA Change: F1761S
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: F1655S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123741 Gene: ENSMUSG00000024112 AA Change: F1655S
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: F1761S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125541 Gene: ENSMUSG00000024112 AA Change: F1761S
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 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: 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 |
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (61/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1190005I06Rik |
T |
C |
8: 121,338,005 (GRCm39) |
S69G |
possibly damaging |
Het |
Alg12 |
G |
A |
15: 88,690,910 (GRCm39) |
S337F |
probably damaging |
Het |
Bcl11a |
T |
C |
11: 24,113,985 (GRCm39) |
S443P |
probably damaging |
Het |
C1qtnf4 |
T |
C |
2: 90,719,885 (GRCm39) |
Y53H |
probably damaging |
Het |
Cacna1d |
T |
A |
14: 29,864,600 (GRCm39) |
E454V |
probably damaging |
Het |
Cacna1i |
A |
T |
15: 80,261,023 (GRCm39) |
I1344F |
possibly damaging |
Het |
Cat |
T |
C |
2: 103,307,235 (GRCm39) |
N33D |
probably benign |
Het |
Cdh17 |
C |
T |
4: 11,783,174 (GRCm39) |
Q172* |
probably null |
Het |
Chrna2 |
A |
G |
14: 66,386,675 (GRCm39) |
I274V |
probably benign |
Het |
Cog2 |
T |
G |
8: 125,262,258 (GRCm39) |
S299A |
possibly damaging |
Het |
Cpa6 |
C |
A |
1: 10,479,524 (GRCm39) |
M236I |
probably damaging |
Het |
Crym |
T |
A |
7: 119,789,742 (GRCm39) |
Q242L |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
Eif4a3l1 |
A |
G |
6: 136,306,396 (GRCm39) |
T286A |
possibly damaging |
Het |
Epdr1 |
A |
T |
13: 19,777,458 (GRCm39) |
I180N |
possibly damaging |
Het |
Fancd2os |
G |
A |
6: 113,574,851 (GRCm39) |
L52F |
probably benign |
Het |
Fbxo16 |
C |
A |
14: 65,558,716 (GRCm39) |
R292S |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,667,272 (GRCm39) |
Q820R |
probably benign |
Het |
Gm4131 |
T |
A |
14: 62,704,301 (GRCm39) |
Y140F |
possibly damaging |
Het |
Grin2a |
T |
C |
16: 9,396,986 (GRCm39) |
R1034G |
possibly damaging |
Het |
Hypk |
A |
G |
2: 121,284,805 (GRCm39) |
|
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,314,951 (GRCm39) |
V823A |
probably benign |
Het |
Irf5 |
A |
G |
6: 29,534,039 (GRCm39) |
N95S |
probably damaging |
Het |
Kdr |
A |
T |
5: 76,125,360 (GRCm39) |
M379K |
probably benign |
Het |
Kif19a |
G |
T |
11: 114,656,281 (GRCm39) |
|
probably benign |
Het |
Klhdc4 |
T |
C |
8: 122,526,397 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 26,995,976 (GRCm39) |
I1717N |
probably damaging |
Het |
Lama4 |
A |
T |
10: 38,968,295 (GRCm39) |
Q1479L |
probably benign |
Het |
Lgr5 |
T |
A |
10: 115,288,410 (GRCm39) |
T745S |
probably damaging |
Het |
Lifr |
T |
A |
15: 7,196,540 (GRCm39) |
|
probably null |
Het |
Llgl1 |
C |
T |
11: 60,596,812 (GRCm39) |
R138C |
possibly damaging |
Het |
Mccc1 |
A |
T |
3: 36,044,005 (GRCm39) |
V246E |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,725,944 (GRCm39) |
L2621H |
probably benign |
Het |
Mecr |
C |
A |
4: 131,581,089 (GRCm39) |
A80D |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,154,905 (GRCm39) |
E206G |
probably damaging |
Het |
Nubpl |
A |
G |
12: 52,179,203 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
T |
11: 59,024,053 (GRCm39) |
R539H |
probably damaging |
Het |
Or4n4b |
T |
A |
14: 50,535,879 (GRCm39) |
T296S |
probably benign |
Het |
Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
Pde5a |
A |
T |
3: 122,648,895 (GRCm39) |
K838* |
probably null |
Het |
Pgm3 |
A |
G |
9: 86,444,650 (GRCm39) |
L295P |
probably damaging |
Het |
Pkp2 |
T |
C |
16: 16,064,793 (GRCm39) |
L439P |
possibly damaging |
Het |
Polr1a |
T |
A |
6: 71,897,500 (GRCm39) |
C205* |
probably null |
Het |
Rab3gap1 |
T |
A |
1: 127,855,249 (GRCm39) |
I429K |
probably benign |
Het |
Rassf8 |
T |
C |
6: 145,761,295 (GRCm39) |
V207A |
probably benign |
Het |
Sacs |
T |
A |
14: 61,451,530 (GRCm39) |
D4525E |
possibly damaging |
Het |
Sec24a |
A |
T |
11: 51,598,082 (GRCm39) |
L864Q |
probably damaging |
Het |
Spats2l |
C |
A |
1: 57,918,672 (GRCm39) |
Y35* |
probably null |
Het |
Sptlc2 |
A |
T |
12: 87,388,380 (GRCm39) |
D367E |
probably benign |
Het |
Ssc4d |
T |
C |
5: 135,996,810 (GRCm39) |
D97G |
possibly damaging |
Het |
Tjp1 |
A |
G |
7: 65,177,400 (GRCm39) |
Y3H |
possibly damaging |
Het |
Tkt |
T |
A |
14: 30,291,102 (GRCm39) |
|
probably null |
Het |
Trim60 |
T |
A |
8: 65,453,133 (GRCm39) |
N372I |
possibly damaging |
Het |
Trpm2 |
T |
C |
10: 77,759,389 (GRCm39) |
N1132D |
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,654,154 (GRCm39) |
I211T |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,180,088 (GRCm39) |
K132E |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,553,932 (GRCm39) |
V30924I |
probably damaging |
Het |
Tubgcp6 |
G |
A |
15: 88,987,173 (GRCm39) |
Q1267* |
probably null |
Het |
Zfp30 |
C |
A |
7: 29,492,043 (GRCm39) |
T180N |
probably benign |
Het |
Zp2 |
A |
G |
7: 119,731,614 (GRCm39) |
*714R |
probably null |
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 |
R7270:Cacna1h
|
UTSW |
17 |
25,603,739 (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'- TGTGTACACAGGCGTGAGTG -3'
(R):5'- TAAGTGGAACTGTAGGCGGATCC -3'
Sequencing Primer
(F):5'- CGTTGGGCTGGTGAGGTAC -3'
(R):5'- GAACTGTAGGCGGATCCTCTTC -3'
|
Posted On |
2019-06-26 |