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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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