Incidental Mutation 'IGL00233:Cacnb1'
| ID |
306844 |
| 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 # |
IGL00233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97892339-97913860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97913190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 21
(E21G)
|
| 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 |
probably benign
Transcript: ENSMUST00000017552
AA Change: E21G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: E21G
| 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: E21G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090412
Gene: ENSMUSG00000020882
AA Change: E21G
| 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: E21G
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: E21G
| 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 |
possibly damaging
Transcript: ENSMUST00000107562
AA Change: E21G
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103187
Gene: ENSMUSG00000020882
AA Change: E21G
| 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: ENSMUST00000123784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135462
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aimp1 |
A |
T |
3: 132,382,904 (GRCm39) |
|
probably benign |
Het |
| Arpc5 |
A |
G |
1: 152,644,658 (GRCm39) |
I64V |
probably benign |
Het |
| C030048H21Rik |
G |
A |
2: 26,146,632 (GRCm39) |
R1227W |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,946,635 (GRCm39) |
K111E |
possibly damaging |
Het |
| Cda |
T |
C |
4: 138,095,157 (GRCm39) |
Y33C |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,726,124 (GRCm39) |
R3118W |
probably damaging |
Het |
| Clvs1 |
G |
A |
4: 9,281,939 (GRCm39) |
G128R |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,224,306 (GRCm39) |
S163G |
unknown |
Het |
| Cyp4v3 |
T |
C |
8: 45,760,040 (GRCm39) |
D64G |
probably benign |
Het |
| Dst |
C |
A |
1: 34,290,920 (GRCm39) |
L837M |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,294,536 (GRCm39) |
I1349N |
probably damaging |
Het |
| Elob |
C |
A |
17: 24,043,954 (GRCm39) |
|
probably null |
Het |
| Glipr1 |
T |
A |
10: 111,821,555 (GRCm39) |
I216L |
probably benign |
Het |
| Gm3238 |
C |
T |
10: 77,607,126 (GRCm39) |
|
probably benign |
Het |
| Gm43638 |
C |
T |
5: 87,608,258 (GRCm39) |
R527H |
probably damaging |
Het |
| H2-M11 |
A |
G |
17: 36,858,445 (GRCm39) |
K80E |
probably benign |
Het |
| Htt |
A |
G |
5: 35,053,370 (GRCm39) |
|
probably null |
Het |
| Kif26a |
A |
G |
12: 112,124,066 (GRCm39) |
S224G |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,822,488 (GRCm39) |
M74K |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,299,724 (GRCm39) |
V89D |
probably damaging |
Het |
| Nlrx1 |
G |
A |
9: 44,175,365 (GRCm39) |
T137I |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,035 (GRCm39) |
T394A |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,340,982 (GRCm39) |
I151T |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,445,695 (GRCm39) |
V50A |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,599,787 (GRCm39) |
F750S |
probably damaging |
Het |
| Psmd13 |
T |
C |
7: 140,477,534 (GRCm39) |
V311A |
probably damaging |
Het |
| Rec8 |
C |
T |
14: 55,860,972 (GRCm39) |
Q334* |
probably null |
Het |
| Rfx7 |
G |
A |
9: 72,514,972 (GRCm39) |
V157I |
probably damaging |
Het |
| Sele |
G |
A |
1: 163,879,403 (GRCm39) |
C312Y |
probably damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
| Tma16 |
G |
T |
8: 66,933,097 (GRCm39) |
Q95K |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,362,890 (GRCm39) |
D288G |
probably damaging |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,828 (GRCm39) |
I29N |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,389 (GRCm39) |
L750* |
probably null |
Het |
|
| Other mutations in Cacnb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
Incidental Mutation