Incidental Mutation 'IGL02633:Cacnb1'
ID |
301398 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cacnb1
|
Ensembl Gene |
ENSMUSG00000020882 |
Gene Name |
calcium channel, voltage-dependent, beta 1 subunit |
Synonyms |
Cchb1, Cchlb1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02633
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
97892339-97913860 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97913199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 18
(I18N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103187
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017548]
[ENSMUST00000017552]
[ENSMUST00000092425]
[ENSMUST00000092736]
[ENSMUST00000103144]
[ENSMUST00000107561]
[ENSMUST00000107562]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017548
|
SMART Domains |
Protein: ENSMUSP00000017548 Gene: ENSMUSG00000017404
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L19e
|
3 |
146 |
3e-72 |
PFAM |
low complexity region
|
159 |
183 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017552
AA Change: I18N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000017552 Gene: ENSMUSG00000020882 AA Change: I18N
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: ENSMUST00000092425
|
SMART Domains |
Protein: ENSMUSP00000103181 Gene: ENSMUSG00000017404
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L19e
|
1 |
149 |
7.2e-66 |
PFAM |
low complexity region
|
157 |
181 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092736
AA Change: I18N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000090412 Gene: ENSMUSG00000020882 AA Change: I18N
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: I18N
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000099433 Gene: ENSMUSG00000020882 AA Change: I18N
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 damaging
Transcript: ENSMUST00000107562
AA Change: I18N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103187 Gene: ENSMUSG00000020882 AA Change: I18N
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: ENSMUST00000135462
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123784
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134435
|
Coding Region Coverage |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abitram |
T |
C |
4: 56,806,131 (GRCm39) |
V181A |
possibly damaging |
Het |
Aff4 |
T |
C |
11: 53,300,198 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
T |
C |
14: 55,338,104 (GRCm39) |
|
probably null |
Het |
Aspn |
A |
T |
13: 49,705,363 (GRCm39) |
Y75F |
possibly damaging |
Het |
Atm |
G |
A |
9: 53,359,453 (GRCm39) |
T2783I |
probably damaging |
Het |
Casr |
T |
C |
16: 36,336,017 (GRCm39) |
I97M |
probably damaging |
Het |
Cnga2 |
T |
A |
X: 71,048,655 (GRCm39) |
|
probably benign |
Het |
Coasy |
T |
A |
11: 100,976,147 (GRCm39) |
L425Q |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,162,396 (GRCm39) |
T25A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,006,772 (GRCm39) |
Y2181C |
probably benign |
Het |
Efna3 |
A |
C |
3: 89,222,749 (GRCm39) |
S230A |
probably damaging |
Het |
Eng |
A |
G |
2: 32,563,286 (GRCm39) |
I281V |
probably damaging |
Het |
Erlec1 |
T |
A |
11: 30,898,430 (GRCm39) |
R14* |
probably null |
Het |
Gbp9 |
C |
T |
5: 105,231,431 (GRCm39) |
|
probably benign |
Het |
Gzmg |
T |
C |
14: 56,394,160 (GRCm39) |
M245V |
probably damaging |
Het |
Kdm5a |
A |
G |
6: 120,341,680 (GRCm39) |
I36V |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,389,095 (GRCm39) |
V79A |
probably damaging |
Het |
Limd1 |
A |
T |
9: 123,308,987 (GRCm39) |
|
probably benign |
Het |
Lmo4 |
T |
C |
3: 143,899,683 (GRCm39) |
S155G |
probably benign |
Het |
Mrpl44 |
G |
A |
1: 79,753,862 (GRCm39) |
V5I |
probably benign |
Het |
Mrpl49 |
T |
C |
19: 6,104,931 (GRCm39) |
T146A |
possibly damaging |
Het |
Mrpl58 |
T |
C |
11: 115,301,457 (GRCm39) |
|
probably benign |
Het |
Nab1 |
C |
T |
1: 52,529,292 (GRCm39) |
V202M |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,527,997 (GRCm39) |
M2229L |
probably benign |
Het |
Notch2 |
C |
T |
3: 98,024,013 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
G |
5: 24,897,931 (GRCm39) |
I106V |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,172,117 (GRCm39) |
S595T |
probably benign |
Het |
Rbfox1 |
T |
A |
16: 7,110,078 (GRCm39) |
S165R |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,174,507 (GRCm39) |
T1257I |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,305,556 (GRCm39) |
S327P |
probably damaging |
Het |
Tdpoz1 |
T |
C |
3: 93,578,056 (GRCm39) |
M243V |
probably benign |
Het |
Ttn |
G |
T |
2: 76,549,289 (GRCm39) |
T23469K |
probably damaging |
Het |
Ube2u |
T |
C |
4: 100,339,971 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,208,462 (GRCm39) |
Y836H |
probably damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,488,728 (GRCm39) |
Y101H |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,697,772 (GRCm39) |
Q781L |
possibly damaging |
Het |
Vwce |
G |
A |
19: 10,625,858 (GRCm39) |
V457M |
probably damaging |
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 |
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 |
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 |
|
|
Posted On |
2015-04-16 |