Incidental Mutation 'R0071:Bccip'
ID16983
Institutional Source Beutler Lab
Gene Symbol Bccip
Ensembl Gene ENSMUSG00000030983
Gene NameBRCA2 and CDKN1A interacting protein
SynonymsTOK-1, 1110013J05Rik
MMRRC Submission 038362-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0071 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location133709333-133721145 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 133714231 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 72 (D72G)
Ref Sequence ENSEMBL: ENSMUSP00000033282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033276] [ENSMUST00000033282] [ENSMUST00000151348]
Predicted Effect probably benign
Transcript: ENSMUST00000033276
SMART Domains Protein: ENSMUSP00000033276
Gene: ENSMUSG00000030979

DomainStartEndE-ValueType
Pfam:HEM4 17 253 1.2e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000033282
AA Change: D72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: D72G

DomainStartEndE-ValueType
Pfam:BCIP 58 258 2.1e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140472
Predicted Effect probably benign
Transcript: ENSMUST00000151348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157077
Meta Mutation Damage Score 0.9454 question?
Coding Region Coverage
  • 1x: 88.2%
  • 3x: 84.4%
  • 10x: 70.8%
  • 20x: 43.5%
Validation Efficiency 93% (94/101)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900011O08Rik A G 16: 14,088,954 D11G probably damaging Het
Acrbp T C 6: 125,050,952 probably benign Het
AI481877 A G 4: 59,059,643 Y1006H possibly damaging Het
Amotl1 G A 9: 14,548,773 A890V probably benign Het
Aox3 T A 1: 58,171,891 C931* probably null Het
Apob T A 12: 8,002,111 V1184E probably damaging Het
Bbx C T 16: 50,280,392 E47K probably benign Het
Bckdha A T 7: 25,630,443 probably null Het
Cald1 C T 6: 34,758,134 probably benign Het
Cdk11b T C 4: 155,649,423 probably benign Het
Cebpe G T 14: 54,710,604 R261S probably damaging Het
Cep95 C T 11: 106,790,728 probably benign Het
Chil1 T C 1: 134,185,279 Y150H probably benign Het
Chrnd T C 1: 87,192,837 probably benign Het
Cog2 T C 8: 124,548,668 probably benign Het
Coro7 A T 16: 4,670,527 L93Q probably damaging Het
Csmd3 T C 15: 47,596,821 T3525A probably benign Het
Fam227b T A 2: 126,124,074 N144Y probably benign Het
Fhod1 A T 8: 105,337,225 probably null Het
Folr1 A G 7: 101,863,923 probably null Het
Glis3 C T 19: 28,263,855 probably benign Het
Golgb1 G A 16: 36,915,503 R1704Q probably benign Het
Helz2 T C 2: 181,236,407 Y866C probably damaging Het
Kcnma1 C T 14: 23,526,767 R236H probably damaging Het
Lct C T 1: 128,292,018 W1631* probably null Het
Limk1 G T 5: 134,661,391 Q104K probably benign Het
Ly75 T C 2: 60,321,819 K1130R probably benign Het
Mdm1 A G 10: 118,146,796 E112G probably damaging Het
Myo7a A T 7: 98,056,830 Y1836N probably damaging Het
Nsun7 A G 5: 66,264,045 Y118C probably benign Het
Olfr53 A T 7: 140,652,257 I93F probably benign Het
Olfr716 A G 7: 107,147,712 Y132C probably damaging Het
Osbpl11 T C 16: 33,214,338 probably benign Het
Pik3cb A T 9: 99,044,865 D886E probably benign Het
Pkhd1 T A 1: 20,201,344 Y2995F probably benign Het
Raver2 C T 4: 101,120,445 probably benign Het
Sec22c A G 9: 121,692,913 F44L probably damaging Het
Sephs1 A G 2: 4,899,560 T250A probably benign Het
Sobp A G 10: 43,157,997 L111P probably damaging Het
Sparcl1 G T 5: 104,085,841 Y547* probably null Het
Spata31d1b G A 13: 59,715,349 A104T probably benign Het
Spsb3 A G 17: 24,887,904 D184G probably damaging Het
Sptan1 A T 2: 30,003,342 K1148* probably null Het
Tdrd12 A G 7: 35,529,246 V17A possibly damaging Het
Tlr9 A G 9: 106,223,578 T23A probably benign Het
Tra2b A T 16: 22,254,401 probably benign Het
Tspan15 A G 10: 62,203,070 probably benign Het
Ttc41 A G 10: 86,736,846 N694S probably benign Het
Ube3b G A 5: 114,419,497 G1014D probably damaging Het
Unc5d A G 8: 28,719,826 V422A possibly damaging Het
Vmn2r80 C T 10: 79,171,732 T514I possibly damaging Het
Other mutations in Bccip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Bccip APN 7 133709376 missense probably benign 0.20
IGL03345:Bccip APN 7 133709491 missense probably benign
R0071:Bccip UTSW 7 133714231 missense probably damaging 1.00
R0514:Bccip UTSW 7 133719130 missense possibly damaging 0.80
R2171:Bccip UTSW 7 133719114 missense probably benign 0.09
R4435:Bccip UTSW 7 133719213 missense probably benign 0.00
R4626:Bccip UTSW 7 133720728 missense possibly damaging 0.92
R4648:Bccip UTSW 7 133714899 missense probably damaging 1.00
R5055:Bccip UTSW 7 133714923 missense probably benign 0.13
R5658:Bccip UTSW 7 133717620 missense possibly damaging 0.58
R5986:Bccip UTSW 7 133720865 missense probably benign 0.38
R6328:Bccip UTSW 7 133717774 missense probably damaging 0.97
R6818:Bccip UTSW 7 133717759 missense probably damaging 1.00
R6934:Bccip UTSW 7 133720791 missense probably benign 0.00
Posted On2013-01-20