Incidental Mutation 'R8336:Cacnb1'
| ID |
644630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb1
|
| Ensembl Gene |
ENSMUSG00000020882 |
| Gene Name |
calcium channel, voltage-dependent, beta 1 subunit |
| Synonyms |
Cchb1, Cchlb1 |
| MMRRC Submission |
067729-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97892339-97913860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97894119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 468
(Y468H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017552
(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
AA Change: Y468H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: Y468H
| 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
AA Change: Y548H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: Y548H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
C |
14: 64,223,545 (GRCm39) |
K77R |
probably benign |
Het |
| Acta1 |
C |
T |
8: 124,619,310 (GRCm39) |
E261K |
possibly damaging |
Het |
| Adamts19 |
A |
T |
18: 59,140,444 (GRCm39) |
I848L |
possibly damaging |
Het |
| Adck1 |
C |
A |
12: 88,335,249 (GRCm39) |
T45K |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,566,495 (GRCm39) |
F291S |
|
Het |
| BC048671 |
T |
C |
6: 90,279,849 (GRCm39) |
V24A |
probably benign |
Het |
| Brsk2 |
C |
T |
7: 141,538,211 (GRCm39) |
A119V |
probably damaging |
Het |
| Cep89 |
A |
T |
7: 35,127,141 (GRCm39) |
K501* |
probably null |
Het |
| Ces2a |
T |
A |
8: 105,465,665 (GRCm39) |
F306I |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,952,528 (GRCm39) |
I457F |
possibly damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
C |
A |
14: 26,432,220 (GRCm39) |
T444K |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,406 (GRCm39) |
S270P |
probably damaging |
Het |
| Eppk1 |
T |
TCAC |
15: 75,992,152 (GRCm39) |
|
probably null |
Het |
| Esam |
T |
A |
9: 37,448,362 (GRCm39) |
I267K |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,542,489 (GRCm39) |
V106A |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,099 (GRCm39) |
T5611A |
possibly damaging |
Het |
| Gcc2 |
A |
G |
10: 58,108,189 (GRCm39) |
D933G |
probably damaging |
Het |
| Gm16506 |
T |
A |
14: 43,964,825 (GRCm39) |
H39L |
|
Het |
| Gm5145 |
A |
T |
17: 20,790,687 (GRCm39) |
N22Y |
probably damaging |
Het |
| Gm6465 |
A |
T |
5: 11,896,780 (GRCm39) |
R50W |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,309,405 (GRCm39) |
D548E |
probably benign |
Het |
| Hnrnpl |
C |
A |
7: 28,513,462 (GRCm39) |
S178R |
possibly damaging |
Het |
| Hsp90b1 |
A |
G |
10: 86,526,968 (GRCm39) |
*803Q |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,396,407 (GRCm39) |
N1088S |
probably benign |
Het |
| Klk1b11 |
C |
T |
7: 43,425,865 (GRCm39) |
|
probably benign |
Het |
| Kmt5b |
T |
C |
19: 3,865,531 (GRCm39) |
I865T |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,372,884 (GRCm39) |
R189L |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,603,430 (GRCm39) |
S1040P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,163,902 (GRCm39) |
S2019G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,314,815 (GRCm39) |
V545A |
possibly damaging |
Het |
| Nkd2 |
G |
T |
13: 73,969,192 (GRCm39) |
P425T |
probably damaging |
Het |
| Or5h26 |
T |
C |
16: 58,987,918 (GRCm39) |
Y196C |
possibly damaging |
Het |
| Ostm1 |
A |
G |
10: 42,572,334 (GRCm39) |
Y239C |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,874,204 (GRCm39) |
D203G |
probably benign |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,942 (GRCm39) |
Y690* |
probably null |
Het |
| Pla2r1 |
C |
A |
2: 60,253,027 (GRCm39) |
V1355F |
possibly damaging |
Het |
| Pms1 |
C |
T |
1: 53,245,985 (GRCm39) |
S518N |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,367,249 (GRCm39) |
*726C |
probably null |
Het |
| Rin1 |
A |
T |
19: 5,105,013 (GRCm39) |
H691L |
possibly damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,473,058 (GRCm39) |
Y47* |
probably null |
Het |
| Sp9 |
T |
A |
2: 73,104,796 (GRCm39) |
V450D |
possibly damaging |
Het |
| Sstr3 |
T |
C |
15: 78,424,693 (GRCm39) |
N18S |
probably damaging |
Het |
| Sugct |
T |
A |
13: 17,032,504 (GRCm39) |
Y416F |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,257,000 (GRCm39) |
T75A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,746,808 (GRCm39) |
V999A |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,399,112 (GRCm39) |
L453* |
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,762 (GRCm39) |
M515K |
probably benign |
Het |
| Vstm2a |
G |
A |
11: 16,207,801 (GRCm39) |
|
probably benign |
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 |
|
R1037:Cacnb1
|
UTSW |
11 |
97,895,843 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
|
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'- TCTCCATGTCCACACACGAG -3'
(R):5'- CTCAGATGAAGTTGGGTGCC -3'
Sequencing Primer
(F):5'- TGTCCACACACGAGTCTCC -3'
(R):5'- CCTCAGGCTCAGCTCTAGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation