Incidental Mutation 'IGL02347:Bccip'
ID289341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bccip
Ensembl Gene ENSMUSG00000030983
Gene NameBRCA2 and CDKN1A interacting protein
SynonymsTOK-1, 1110013J05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02347
Quality Score
Status
Chromosome7
Chromosomal Location133709333-133721145 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 133709376 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 7 (K7E)
Ref Sequence ENSEMBL: ENSMUSP00000033282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033276] [ENSMUST00000033282] [ENSMUST00000106144] [ENSMUST00000106145] [ENSMUST00000106146] [ENSMUST00000124759] [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 benign
Transcript: ENSMUST00000033282
AA Change: K7E

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: K7E

DomainStartEndE-ValueType
Pfam:BCIP 58 258 2.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106144
SMART Domains Protein: ENSMUSP00000101750
Gene: ENSMUSG00000030979

DomainStartEndE-ValueType
Pfam:HEM4 17 168 5.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106145
SMART Domains Protein: ENSMUSP00000101751
Gene: ENSMUSG00000030979

DomainStartEndE-ValueType
Pfam:HEM4 17 253 2.9e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106146
SMART Domains Protein: ENSMUSP00000101752
Gene: ENSMUSG00000030979

DomainStartEndE-ValueType
Pfam:HEM4 17 253 1.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135760
Predicted Effect probably benign
Transcript: ENSMUST00000151348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157077
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A T 6: 96,165,530 Y178N probably damaging Het
9830107B12Rik T A 17: 48,145,664 K35* probably null Het
Adad2 G T 8: 119,616,669 G546V probably damaging Het
C8b G A 4: 104,786,954 E273K probably benign Het
Car12 T A 9: 66,764,347 V352D possibly damaging Het
Cyp2d11 G A 15: 82,390,480 R299C probably benign Het
Dnah10 A C 5: 124,833,423 probably null Het
Egf A T 3: 129,678,377 N1199K probably benign Het
Ehbp1l1 A G 19: 5,719,572 W568R possibly damaging Het
Emc3 A G 6: 113,520,572 M106T possibly damaging Het
Epp13 A G 7: 6,269,884 I79M possibly damaging Het
Fam13b T C 18: 34,454,704 K514E probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Frg2f1 A C 4: 119,530,732 L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 probably null Het
Glis3 A G 19: 28,531,883 F234L probably benign Het
Gm2035 T C 12: 87,919,589 D90G probably damaging Het
Grap2 T C 15: 80,646,356 probably benign Het
H2-M10.2 T A 17: 36,285,613 E113D probably benign Het
Itgb6 T C 2: 60,611,412 T685A probably benign Het
Mrpl19 A T 6: 81,962,011 M270K probably damaging Het
Msantd4 G T 9: 4,384,734 probably benign Het
Msr1 G T 8: 39,632,737 T34K probably damaging Het
Npc1 C T 18: 12,199,634 V780M probably benign Het
Nsun6 A G 2: 15,030,020 probably benign Het
Nt5c2 A G 19: 46,924,256 probably benign Het
Nucb2 A C 7: 116,535,878 Q340P probably benign Het
Olfr168 A G 16: 19,530,779 L47P probably damaging Het
Olfr401 C T 11: 74,121,571 T94I probably benign Het
Osgin1 A G 8: 119,445,538 E357G probably benign Het
Pabpc6 C T 17: 9,669,064 R186K probably benign Het
Pex1 A G 5: 3,603,350 K83R probably damaging Het
Ppid A G 3: 79,595,219 I82V probably benign Het
Pygl C T 12: 70,201,892 G318S probably benign Het
Rcn1 A T 2: 105,399,126 V27E probably benign Het
Rnaseh1 A T 12: 28,657,630 probably benign Het
Rnf148 A G 6: 23,654,730 V89A probably benign Het
Siglecf G A 7: 43,351,721 V38I possibly damaging Het
Slc13a5 T C 11: 72,258,954 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Sos2 A T 12: 69,596,746 D953E probably benign Het
Strbp A C 2: 37,645,648 V16G probably benign Het
Sycp1 A T 3: 102,893,547 M567K probably benign Het
Tedc2 A C 17: 24,220,610 V19G probably damaging Het
Tjp1 A G 7: 65,301,064 probably null Het
Ttn A T 2: 76,709,220 V26147E probably damaging Het
Vmn1r86 A G 7: 13,102,647 S51P probably damaging Het
Vmn2r83 A G 10: 79,480,233 T488A possibly damaging Het
Zfp541 A G 7: 16,083,465 Y945C probably damaging Het
Other mutations in Bccip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03345:Bccip APN 7 133709491 missense probably benign
R0071:Bccip UTSW 7 133714231 missense probably damaging 1.00
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 On2015-04-16