Incidental Mutation 'R1037:Cacnb1'
ID |
93881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacnb1
|
Ensembl Gene |
ENSMUSG00000020882 |
Gene Name |
calcium channel, voltage-dependent, beta 1 subunit |
Synonyms |
Cchb1, Cchlb1 |
MMRRC Submission |
039136-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1037 (G1)
|
Quality Score |
154 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97892339-97913860 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to C
at 97895843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103187
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017552]
[ENSMUST00000092736]
[ENSMUST00000103144]
[ENSMUST00000107561]
[ENSMUST00000107562]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017552
|
SMART Domains |
Protein: ENSMUSP00000017552 Gene: ENSMUSG00000020882
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
Pfam:VGCC_beta4Aa_N
|
58 |
99 |
1.1e-26 |
PFAM |
SH3
|
103 |
167 |
2.98e-2 |
SMART |
low complexity region
|
182 |
193 |
N/A |
INTRINSIC |
GuKc
|
228 |
409 |
5.57e-41 |
SMART |
low complexity region
|
412 |
443 |
N/A |
INTRINSIC |
low complexity region
|
523 |
543 |
N/A |
INTRINSIC |
low complexity region
|
549 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092736
|
SMART Domains |
Protein: ENSMUSP00000090412 Gene: ENSMUSG00000020882
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
Pfam:VGCC_beta4Aa_N
|
58 |
99 |
4.7e-26 |
PFAM |
SH3
|
103 |
167 |
2.98e-2 |
SMART |
low complexity region
|
182 |
193 |
N/A |
INTRINSIC |
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
GuKc
|
273 |
454 |
5.57e-41 |
SMART |
low complexity region
|
457 |
488 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103144
|
SMART Domains |
Protein: ENSMUSP00000099433 Gene: ENSMUSG00000020882
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
Pfam:VGCC_beta4Aa_N
|
58 |
99 |
1.4e-25 |
PFAM |
SH3
|
103 |
167 |
2.98e-2 |
SMART |
low complexity region
|
182 |
193 |
N/A |
INTRINSIC |
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
GuKc
|
273 |
454 |
5.57e-41 |
SMART |
low complexity region
|
457 |
488 |
N/A |
INTRINSIC |
low complexity region
|
603 |
623 |
N/A |
INTRINSIC |
low complexity region
|
629 |
637 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107561
|
SMART Domains |
Protein: ENSMUSP00000103186 Gene: ENSMUSG00000020882
Domain | Start | End | E-Value | Type |
Pfam:VGCC_beta4Aa_N
|
11 |
52 |
8e-27 |
PFAM |
SH3
|
56 |
120 |
2.98e-2 |
SMART |
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
low complexity region
|
172 |
187 |
N/A |
INTRINSIC |
GuKc
|
226 |
407 |
5.57e-41 |
SMART |
low complexity region
|
410 |
441 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107562
|
SMART Domains |
Protein: ENSMUSP00000103187 Gene: ENSMUSG00000020882
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
Pfam:VGCC_beta4Aa_N
|
58 |
99 |
4.2e-26 |
PFAM |
SH3
|
103 |
167 |
2.98e-2 |
SMART |
low complexity region
|
182 |
193 |
N/A |
INTRINSIC |
GuKc
|
228 |
409 |
5.57e-41 |
SMART |
low complexity region
|
412 |
443 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124170
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135462
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.1%
- 10x: 94.3%
- 20x: 85.9%
|
Validation Efficiency |
100% (58/58) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant animals have reduced muscle mass, thin limbs, a curved spine, and flexed necks and extremeties. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
G |
8: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
Abca2 |
T |
A |
2: 25,328,240 (GRCm39) |
|
probably benign |
Het |
Abcb1b |
A |
T |
5: 8,875,657 (GRCm39) |
N610I |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,984,982 (GRCm39) |
F2089L |
probably benign |
Het |
Cep57 |
T |
C |
9: 13,730,275 (GRCm39) |
I61V |
possibly damaging |
Het |
Ckap5 |
T |
C |
2: 91,380,974 (GRCm39) |
I110T |
probably benign |
Het |
Clasp2 |
T |
C |
9: 113,725,702 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
A |
C |
3: 113,987,801 (GRCm39) |
E265A |
probably damaging |
Het |
Cst13 |
A |
G |
2: 148,672,251 (GRCm39) |
|
probably benign |
Het |
Cyp24a1 |
G |
A |
2: 170,333,537 (GRCm39) |
T272M |
probably damaging |
Het |
Cyp4a14 |
A |
C |
4: 115,347,193 (GRCm39) |
L415R |
probably damaging |
Het |
Dbnl |
T |
C |
11: 5,746,807 (GRCm39) |
F179S |
probably damaging |
Het |
Eepd1 |
T |
C |
9: 25,498,079 (GRCm39) |
L388P |
possibly damaging |
Het |
Exosc8 |
G |
T |
3: 54,640,159 (GRCm39) |
A55E |
probably damaging |
Het |
Fam72a |
G |
A |
1: 131,461,557 (GRCm39) |
V81I |
probably damaging |
Het |
Fasn |
C |
T |
11: 120,700,277 (GRCm39) |
M2182I |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,862,322 (GRCm39) |
P2234S |
probably damaging |
Het |
Grn |
C |
A |
11: 102,323,896 (GRCm39) |
D33E |
possibly damaging |
Het |
Gsap |
A |
G |
5: 21,456,163 (GRCm39) |
|
probably benign |
Het |
H2bc15 |
T |
A |
13: 21,938,417 (GRCm39) |
V42E |
probably damaging |
Het |
Hook3 |
T |
C |
8: 26,562,378 (GRCm39) |
Q229R |
possibly damaging |
Het |
Itgb6 |
T |
C |
2: 60,480,412 (GRCm39) |
E308G |
probably damaging |
Het |
Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
Lrrc4c |
A |
G |
2: 97,460,330 (GRCm39) |
M319V |
probably benign |
Het |
Mia3 |
T |
C |
1: 183,138,698 (GRCm39) |
I672M |
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mlc1 |
A |
G |
15: 88,849,664 (GRCm39) |
L223P |
probably damaging |
Het |
Mmp21 |
T |
C |
7: 133,276,182 (GRCm39) |
K554E |
probably benign |
Het |
Nup160 |
C |
T |
2: 90,524,246 (GRCm39) |
T383I |
probably damaging |
Het |
Opcml |
T |
A |
9: 28,814,595 (GRCm39) |
D290E |
probably damaging |
Het |
Or10a3b |
T |
A |
7: 108,445,191 (GRCm39) |
T9S |
probably benign |
Het |
Or4a27 |
T |
A |
2: 88,559,376 (GRCm39) |
D189V |
probably damaging |
Het |
Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
Or5d38 |
A |
G |
2: 87,954,573 (GRCm39) |
I252T |
probably damaging |
Het |
Or5k14 |
T |
C |
16: 58,693,333 (GRCm39) |
Y60C |
probably damaging |
Het |
Palm3 |
C |
A |
8: 84,755,901 (GRCm39) |
T471K |
probably benign |
Het |
Prl2c5 |
T |
A |
13: 13,360,492 (GRCm39) |
L50* |
probably null |
Het |
Pzp |
T |
C |
6: 128,496,389 (GRCm39) |
N281S |
probably benign |
Het |
Qser1 |
T |
C |
2: 104,590,900 (GRCm39) |
Y1722C |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,699,453 (GRCm39) |
V879A |
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,531,975 (GRCm39) |
S736P |
possibly damaging |
Het |
Septin5 |
G |
A |
16: 18,441,844 (GRCm39) |
|
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,298,996 (GRCm39) |
|
probably benign |
Het |
Spag17 |
A |
T |
3: 100,010,433 (GRCm39) |
T1976S |
probably benign |
Het |
Swt1 |
A |
T |
1: 151,246,320 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,446,688 (GRCm39) |
W853R |
probably damaging |
Het |
Thbs1 |
A |
T |
2: 117,953,532 (GRCm39) |
Q983L |
probably damaging |
Het |
Tmem191 |
A |
G |
16: 17,094,347 (GRCm39) |
|
probably benign |
Het |
Tmprss11g |
A |
T |
5: 86,638,606 (GRCm39) |
V294D |
probably damaging |
Het |
Tor1aip2 |
A |
G |
1: 155,941,082 (GRCm39) |
S463G |
probably benign |
Het |
Trim36 |
A |
G |
18: 46,329,385 (GRCm39) |
|
probably benign |
Het |
Ttc1 |
A |
G |
11: 43,621,326 (GRCm39) |
V285A |
possibly damaging |
Het |
Uckl1 |
C |
T |
2: 181,214,278 (GRCm39) |
R303H |
possibly damaging |
Het |
Vwa8 |
C |
A |
14: 79,324,094 (GRCm39) |
C1132* |
probably null |
Het |
|
Other mutations in Cacnb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Cacnb1
|
APN |
11 |
97,913,190 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02633:Cacnb1
|
APN |
11 |
97,913,199 (GRCm39) |
missense |
probably damaging |
0.98 |
awkward
|
UTSW |
11 |
97,896,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R2101:Cacnb1
|
UTSW |
11 |
97,896,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R2363:Cacnb1
|
UTSW |
11 |
97,903,672 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4159:Cacnb1
|
UTSW |
11 |
97,903,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4942:Cacnb1
|
UTSW |
11 |
97,893,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R5360:Cacnb1
|
UTSW |
11 |
97,909,097 (GRCm39) |
critical splice donor site |
probably null |
|
R5653:Cacnb1
|
UTSW |
11 |
97,900,105 (GRCm39) |
critical splice donor site |
probably null |
|
R6137:Cacnb1
|
UTSW |
11 |
97,896,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R7154:Cacnb1
|
UTSW |
11 |
97,895,959 (GRCm39) |
missense |
probably damaging |
0.99 |
R7163:Cacnb1
|
UTSW |
11 |
97,903,726 (GRCm39) |
missense |
probably benign |
0.20 |
R7800:Cacnb1
|
UTSW |
11 |
97,900,121 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7816:Cacnb1
|
UTSW |
11 |
97,896,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R8143:Cacnb1
|
UTSW |
11 |
97,894,146 (GRCm39) |
missense |
probably benign |
0.00 |
R8336:Cacnb1
|
UTSW |
11 |
97,894,119 (GRCm39) |
missense |
probably benign |
0.00 |
R8889:Cacnb1
|
UTSW |
11 |
97,901,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8892:Cacnb1
|
UTSW |
11 |
97,901,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8933:Cacnb1
|
UTSW |
11 |
97,896,578 (GRCm39) |
missense |
probably damaging |
0.99 |
R9067:Cacnb1
|
UTSW |
11 |
97,896,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R9087:Cacnb1
|
UTSW |
11 |
97,893,833 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9166:Cacnb1
|
UTSW |
11 |
97,910,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R9710:Cacnb1
|
UTSW |
11 |
97,902,197 (GRCm39) |
missense |
probably benign |
|
R9790:Cacnb1
|
UTSW |
11 |
97,900,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R9791:Cacnb1
|
UTSW |
11 |
97,900,186 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cacnb1
|
UTSW |
11 |
97,913,381 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCAAGTCCAACAGACAGGAGATGC -3'
(R):5'- ATTGGAAGATGCCTGCGAGCAC -3'
Sequencing Primer
(F):5'- TGCAGTCCTAAGGGACCAG -3'
(R):5'- AATCCGCTGCTGAACCG -3'
|
Posted On |
2014-01-05 |