Incidental Mutation 'R9067:Cacnb1'
ID |
689319 |
Institutional Source |
Beutler Lab
|
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 # |
R9067 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
97892339-97913860 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 97896131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 386
(D386Y)
|
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 damaging
Transcript: ENSMUST00000017552
AA Change: D386Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000017552 Gene: ENSMUSG00000020882 AA Change: D386Y
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 damaging
Transcript: ENSMUST00000092736
AA Change: D431Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090412 Gene: ENSMUSG00000020882 AA Change: D431Y
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 damaging
Transcript: ENSMUST00000103144
AA Change: D431Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099433 Gene: ENSMUSG00000020882 AA Change: D431Y
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 damaging
Transcript: ENSMUST00000107561
AA Change: D384Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103186 Gene: ENSMUSG00000020882 AA Change: D384Y
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: D386Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103187 Gene: ENSMUSG00000020882 AA Change: D386Y
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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
G |
2: 19,522,493 (GRCm39) |
D202A |
probably damaging |
Het |
Aass |
T |
A |
6: 23,077,123 (GRCm39) |
R745S |
probably benign |
Het |
Adamts14 |
C |
T |
10: 61,085,439 (GRCm39) |
R195H |
possibly damaging |
Het |
Afm |
T |
C |
5: 90,671,674 (GRCm39) |
F119L |
probably benign |
Het |
Alox5ap |
T |
A |
5: 149,222,190 (GRCm39) |
V93E |
probably damaging |
Het |
Ascl3 |
G |
A |
7: 109,327,104 (GRCm39) |
P72S |
probably benign |
Het |
Ccdc121rt3 |
T |
G |
5: 112,502,706 (GRCm39) |
I333L |
possibly damaging |
Het |
Cep350 |
T |
C |
1: 155,737,485 (GRCm39) |
E2786G |
probably benign |
Het |
Chd1 |
A |
T |
17: 15,951,107 (GRCm39) |
K227N |
possibly damaging |
Het |
Cyp4f13 |
C |
G |
17: 33,143,801 (GRCm39) |
E508Q |
probably damaging |
Het |
Dlgap1 |
T |
A |
17: 71,116,186 (GRCm39) |
L843Q |
probably damaging |
Het |
Elk4 |
T |
G |
1: 131,942,143 (GRCm39) |
I5S |
possibly damaging |
Het |
Erc1 |
A |
T |
6: 119,774,036 (GRCm39) |
D306E |
possibly damaging |
Het |
Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
Gdf2 |
A |
T |
14: 33,663,411 (GRCm39) |
T102S |
probably benign |
Het |
Glb1 |
A |
G |
9: 114,302,922 (GRCm39) |
N586S |
probably damaging |
Het |
Gm45861 |
T |
A |
8: 27,995,043 (GRCm39) |
S472T |
unknown |
Het |
Gm5800 |
G |
A |
14: 51,951,995 (GRCm39) |
A89V |
possibly damaging |
Het |
Gpalpp1 |
A |
G |
14: 76,344,792 (GRCm39) |
S64P |
probably damaging |
Het |
Hbq1a |
T |
C |
11: 32,250,400 (GRCm39) |
V63A |
probably damaging |
Het |
Htr7 |
A |
G |
19: 36,034,490 (GRCm39) |
V55A |
probably benign |
Het |
Ica1 |
T |
A |
6: 8,667,362 (GRCm39) |
D268V |
probably benign |
Het |
Ipo8 |
T |
C |
6: 148,678,730 (GRCm39) |
E956G |
probably damaging |
Het |
Itprid2 |
G |
A |
2: 79,475,180 (GRCm39) |
E380K |
probably benign |
Het |
Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
Kdr |
T |
C |
5: 76,109,428 (GRCm39) |
D983G |
probably damaging |
Het |
Klhl23 |
C |
G |
2: 69,664,083 (GRCm39) |
I477M |
possibly damaging |
Het |
Kpna2 |
G |
T |
11: 106,882,039 (GRCm39) |
H262Q |
possibly damaging |
Het |
Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
Lrrc17 |
G |
A |
5: 21,766,033 (GRCm39) |
E172K |
probably benign |
Het |
Lrrc45 |
A |
T |
11: 120,606,649 (GRCm39) |
I184F |
possibly damaging |
Het |
Med11 |
A |
G |
11: 70,342,910 (GRCm39) |
T36A |
probably benign |
Het |
Mtf2 |
A |
G |
5: 108,252,133 (GRCm39) |
D423G |
probably benign |
Het |
Ndfip2 |
A |
G |
14: 105,525,157 (GRCm39) |
D146G |
probably benign |
Het |
Nfat5 |
A |
G |
8: 108,094,536 (GRCm39) |
I926V |
probably benign |
Het |
Paqr6 |
T |
A |
3: 88,273,328 (GRCm39) |
S107T |
probably damaging |
Het |
Pdgfrb |
G |
A |
18: 61,201,291 (GRCm39) |
S459N |
probably null |
Het |
Pld5 |
T |
A |
1: 175,917,474 (GRCm39) |
H153L |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,263,244 (GRCm39) |
R788G |
possibly damaging |
Het |
Smok2a |
A |
C |
17: 13,445,825 (GRCm39) |
R467S |
probably damaging |
Het |
Sncaip |
A |
C |
18: 53,039,973 (GRCm39) |
K722N |
probably damaging |
Het |
Sycp2 |
A |
G |
2: 177,989,214 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
A |
12: 75,950,994 (GRCm39) |
W382R |
probably damaging |
Het |
Tiam2 |
T |
C |
17: 3,561,407 (GRCm39) |
V1324A |
probably damaging |
Het |
Tmem120b |
A |
T |
5: 123,236,307 (GRCm39) |
I47F |
probably damaging |
Het |
Tubg2 |
G |
A |
11: 101,049,957 (GRCm39) |
C201Y |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,192,677 (GRCm39) |
E268G |
probably damaging |
Het |
Zfyve26 |
T |
G |
12: 79,318,915 (GRCm39) |
D1141A |
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 |
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 |
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'- TTTCTCCTGAGCGAGGTGAG -3'
(R):5'- TTTCCCTATCCCTAGAATGAGAGG -3'
Sequencing Primer
(F):5'- TGAGCACCTGTACCTGGAG -3'
(R):5'- CCTAGAATGAGAGGGAGTTGGGC -3'
|
Posted On |
2021-11-19 |