Incidental Mutation 'R5360:Cacnb1'
| ID |
424303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb1
|
| Ensembl Gene |
ENSMUSG00000020882 |
| Gene Name |
calcium channel, voltage-dependent, beta 1 subunit |
| Synonyms |
Cchb1, Cchlb1 |
| MMRRC Submission |
042939-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5360 (G1)
|
| Quality Score |
194 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97892339-97913860 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 97909097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017552]
[ENSMUST00000092736]
[ENSMUST00000103144]
[ENSMUST00000107561]
[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 null
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 null
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: ENSMUST00000123784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135462
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
A |
19: 55,279,592 (GRCm39) |
Y443* |
probably null |
Het |
| Aox3 |
C |
T |
1: 58,185,667 (GRCm39) |
T331M |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,170,967 (GRCm39) |
R1598H |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,106,436 (GRCm39) |
|
probably null |
Het |
| Brpf3 |
A |
T |
17: 29,029,536 (GRCm39) |
M499L |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,238,029 (GRCm39) |
S1899P |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,446,595 (GRCm39) |
Y748H |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,532,599 (GRCm39) |
Y2532F |
probably damaging |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,474,011 (GRCm39) |
D1028G |
probably damaging |
Het |
| Eif1ad16 |
A |
C |
12: 87,985,265 (GRCm39) |
L93V |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,800,104 (GRCm39) |
H7Q |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gabra5 |
C |
T |
7: 57,140,533 (GRCm39) |
G55R |
probably damaging |
Het |
| Gdf9 |
T |
A |
11: 53,328,034 (GRCm39) |
F330Y |
probably benign |
Het |
| Gimap8 |
T |
C |
6: 48,633,236 (GRCm39) |
S352P |
probably damaging |
Het |
| Gm4952 |
A |
T |
19: 12,600,993 (GRCm39) |
H71L |
probably benign |
Het |
| Gnaq |
G |
A |
19: 16,110,790 (GRCm39) |
R34H |
probably benign |
Het |
| Hebp2 |
T |
C |
10: 18,420,055 (GRCm39) |
D126G |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,453,464 (GRCm39) |
D601G |
possibly damaging |
Het |
| Hook2 |
T |
C |
8: 85,728,033 (GRCm39) |
Y577H |
probably damaging |
Het |
| Igfals |
A |
G |
17: 25,099,067 (GRCm39) |
T53A |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,222,968 (GRCm39) |
D123G |
probably damaging |
Het |
| Ilrun |
A |
T |
17: 28,013,020 (GRCm39) |
I59N |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mdm4 |
A |
T |
1: 132,919,396 (GRCm39) |
*490K |
probably null |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Neurl2 |
C |
A |
2: 164,675,021 (GRCm39) |
A114S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,876,075 (GRCm39) |
T563A |
probably damaging |
Het |
| Or8g32 |
T |
G |
9: 39,305,698 (GRCm39) |
F204V |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,218,993 (GRCm39) |
S213T |
probably damaging |
Het |
| Pitx1 |
T |
C |
13: 55,976,291 (GRCm39) |
I123V |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,829,204 (GRCm39) |
N1013D |
probably benign |
Het |
| Pla2g2c |
T |
A |
4: 138,461,656 (GRCm39) |
Y42N |
possibly damaging |
Het |
| Polr2b |
G |
A |
5: 77,496,993 (GRCm39) |
A1168T |
possibly damaging |
Het |
| Ppp2r2a |
G |
A |
14: 67,254,020 (GRCm39) |
R383* |
probably null |
Het |
| Prl7a2 |
C |
T |
13: 27,843,143 (GRCm39) |
R220H |
probably benign |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,279,867 (GRCm39) |
V454A |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,732,665 (GRCm39) |
T307A |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,596,786 (GRCm39) |
L188P |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,016,726 (GRCm39) |
N2167S |
probably benign |
Het |
| Spag5 |
G |
A |
11: 78,205,588 (GRCm39) |
E680K |
probably damaging |
Het |
| Spata6 |
A |
G |
4: 111,680,026 (GRCm39) |
Y428C |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,291,660 (GRCm39) |
D47G |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,479,566 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
T |
C |
4: 83,180,084 (GRCm39) |
D103G |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,750,322 (GRCm39) |
W3576G |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,972,912 (GRCm39) |
M22K |
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 |
|
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 |
|
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'- AAAGAACCCTCATTCTCCCTTG -3'
(R):5'- AGACCTTGCCACATCTCTGAG -3'
Sequencing Primer
(F):5'- TGCCCAGAGAGACAGAGACAC -3'
(R):5'- GAGCTAAATATACCCTAGCAGTTTGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation