Incidental Mutation 'IGL02633:Cacnb1'
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ID301398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacnb1
Ensembl Gene ENSMUSG00000020882
Gene Namecalcium channel, voltage-dependent, beta 1 subunit
SynonymsCchb1, Cchlb1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02633
Quality Score
Status
Chromosome11
Chromosomal Location98001508-98023034 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98022373 bp
ZygosityHeterozygous
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]
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: 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,409,371 probably benign Het
Ap1g2 T C 14: 55,100,647 probably null Het
Aspn A T 13: 49,551,887 Y75F possibly damaging Het
Atm G A 9: 53,448,153 T2783I probably damaging Het
Casr T C 16: 36,515,655 I97M probably damaging Het
Cnga2 T A X: 72,005,049 probably benign Het
Coasy T A 11: 101,085,321 L425Q probably damaging Het
Cps1 A G 1: 67,123,237 T25A probably benign Het
Dnah1 T C 14: 31,284,815 Y2181C probably benign Het
Efna3 A C 3: 89,315,442 S230A probably damaging Het
Eng A G 2: 32,673,274 I281V probably damaging Het
Erlec1 T A 11: 30,948,430 R14* probably null Het
Fam206a T C 4: 56,806,131 V181A possibly damaging Het
Gbp9 C T 5: 105,083,565 probably benign Het
Gzmg T C 14: 56,156,703 M245V probably damaging Het
Kdm5a A G 6: 120,364,719 I36V probably damaging Het
Krt83 A G 15: 101,491,214 V79A probably damaging Het
Limd1 A T 9: 123,479,922 probably benign Het
Lmo4 T C 3: 144,193,922 S155G probably benign Het
Mrpl44 G A 1: 79,776,145 V5I probably benign Het
Mrpl49 T C 19: 6,054,901 T146A possibly damaging Het
Mrpl58 T C 11: 115,410,631 probably benign Het
Nab1 C T 1: 52,490,133 V202M probably damaging Het
Nav3 T A 10: 109,692,136 M2229L probably benign Het
Notch2 C T 3: 98,116,697 probably benign Het
Nub1 A G 5: 24,692,933 I106V probably benign Het
Prom1 A T 5: 44,014,775 S595T probably benign Het
Rbfox1 T A 16: 7,292,214 S165R probably damaging Het
Sipa1l2 G A 8: 125,447,768 T1257I probably damaging Het
Smarcc2 T C 10: 128,469,687 S327P probably damaging Het
Tdpoz1 T C 3: 93,670,749 M243V probably benign Het
Ttn G T 2: 76,718,945 T23469K probably damaging Het
Ube2u T C 4: 100,482,774 probably benign Het
Umodl1 T C 17: 30,989,488 Y836H probably damaging Het
Vmn2r45 A G 7: 8,485,729 Y101H probably benign Het
Vps13a T A 19: 16,720,408 Q781L possibly damaging Het
Vwce G A 19: 10,648,494 V457M probably damaging Het
Other mutations in Cacnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Cacnb1 APN 11 98022364 missense possibly damaging 0.50
awkward UTSW 11 98005782 missense probably damaging 1.00
R1037:Cacnb1 UTSW 11 98005017 utr 3 prime probably benign
R2101:Cacnb1 UTSW 11 98005728 missense probably damaging 1.00
R2363:Cacnb1 UTSW 11 98012846 missense possibly damaging 0.87
R4159:Cacnb1 UTSW 11 98012274 missense probably damaging 1.00
R4942:Cacnb1 UTSW 11 98002983 missense probably damaging 1.00
R5360:Cacnb1 UTSW 11 98018271 critical splice donor site probably null
R5653:Cacnb1 UTSW 11 98009279 critical splice donor site probably null
R6137:Cacnb1 UTSW 11 98005782 missense probably damaging 1.00
R7154:Cacnb1 UTSW 11 98005133 missense probably damaging 0.99
R7163:Cacnb1 UTSW 11 98012900 missense probably benign 0.20
R7800:Cacnb1 UTSW 11 98009295 missense possibly damaging 0.56
R7816:Cacnb1 UTSW 11 98005289 missense probably damaging 1.00
R8143:Cacnb1 UTSW 11 98003320 missense probably benign 0.00
Z1176:Cacnb1 UTSW 11 98022555 start gained probably benign
Posted On2015-04-16