Incidental Mutation 'R2171:Bccip'
ID 237488
Institutional Source Beutler Lab
Gene Symbol Bccip
Ensembl Gene ENSMUSG00000030983
Gene Name BRCA2 and CDKN1A interacting protein
Synonyms 1110013J05Rik, TOK-1
MMRRC Submission 040173-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2171 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 133311062-133322874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133320843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 206 (S206P)
Ref Sequence ENSEMBL: ENSMUSP00000033282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033282] [ENSMUST00000033290] [ENSMUST00000063669] [ENSMUST00000106139]
AlphaFold Q9CWI3
Predicted Effect probably benign
Transcript: ENSMUST00000033282
AA Change: S206P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: S206P

DomainStartEndE-ValueType
Pfam:BCIP 58 258 2.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033290
SMART Domains Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986

DomainStartEndE-ValueType
Blast:DEXDc 67 253 1e-107 BLAST
SCOP:d1jpna2 77 289 9e-21 SMART
HA2 465 556 3.35e-21 SMART
Pfam:OB_NTP_bind 597 704 1.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063669
SMART Domains Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986

DomainStartEndE-ValueType
Blast:DEXDc 67 253 1e-107 BLAST
SCOP:d1jpna2 77 289 9e-21 SMART
HA2 465 556 3.35e-21 SMART
Pfam:OB_NTP_bind 594 704 4.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106139
SMART Domains Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986

DomainStartEndE-ValueType
Blast:DEXDc 1 113 5e-54 BLAST
SCOP:d1jpna2 1 149 6e-11 SMART
HA2 325 416 3.35e-21 SMART
Pfam:OB_NTP_bind 457 564 1.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151711
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A G 13: 23,606,387 (GRCm39) L189P probably damaging Het
Adgrl3 C A 5: 81,660,362 (GRCm39) S377* probably null Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Arv1 T G 8: 125,455,094 (GRCm39) C102W probably damaging Het
Asb18 T C 1: 89,896,419 (GRCm39) H207R probably benign Het
Bach2 T C 4: 32,501,662 (GRCm39) V13A probably damaging Het
Cdhr4 T C 9: 107,870,117 (GRCm39) S41P probably benign Het
Chd7 A G 4: 8,752,424 (GRCm39) Y307C probably damaging Het
Clec4f A T 6: 83,629,846 (GRCm39) S237R possibly damaging Het
Cntnap5a A G 1: 116,116,132 (GRCm39) D538G possibly damaging Het
Col9a2 T A 4: 120,902,198 (GRCm39) C173* probably null Het
Ctr9 T A 7: 110,646,117 (GRCm39) M703K possibly damaging Het
Cyp2a12 A G 7: 26,729,057 (GRCm39) Y83C probably damaging Het
Eef1akmt3 A C 10: 126,868,843 (GRCm39) D210E probably benign Het
Erbin A G 13: 103,971,466 (GRCm39) F717L probably benign Het
Gtf3a A G 5: 146,892,272 (GRCm39) N341S probably benign Het
Hltf T C 3: 20,113,245 (GRCm39) V6A probably damaging Het
Itga6 T A 2: 71,650,358 (GRCm39) Y135N probably damaging Het
Krt73 T C 15: 101,709,345 (GRCm39) Q154R possibly damaging Het
Lce1a1 C T 3: 92,554,048 (GRCm39) C142Y unknown Het
Lcorl A T 5: 45,904,493 (GRCm39) I112N probably damaging Het
Ltbp1 C T 17: 75,598,312 (GRCm39) H916Y probably damaging Het
Lypla2 T C 4: 135,697,915 (GRCm39) probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mmp1a T A 9: 7,475,357 (GRCm39) D375E probably damaging Het
Nlrp14 T G 7: 106,781,709 (GRCm39) L302R probably damaging Het
Npy2r T G 3: 82,447,708 (GRCm39) T243P possibly damaging Het
Or11h4 A T 14: 50,973,876 (GRCm39) S248T probably benign Het
Or51k2 T C 7: 103,595,992 (GRCm39) V73A probably damaging Het
Paqr9 A T 9: 95,442,931 (GRCm39) H307L probably damaging Het
Phc3 T C 3: 31,005,078 (GRCm39) T172A probably damaging Het
Pigs A G 11: 78,219,638 (GRCm39) T39A probably damaging Het
Pik3c2g C T 6: 139,801,012 (GRCm39) Q386* probably null Het
Pira2 T C 7: 3,847,417 (GRCm39) S91G probably benign Het
Plxna2 T A 1: 194,482,925 (GRCm39) N1539K probably damaging Het
Poc5 C T 13: 96,547,257 (GRCm39) H507Y probably damaging Het
Pou2f1 A T 1: 165,707,925 (GRCm39) probably benign Het
Pthlh T G 6: 147,158,694 (GRCm39) K89Q probably damaging Het
Rims4 A T 2: 163,706,046 (GRCm39) probably null Het
Rnf138 A G 18: 21,159,143 (GRCm39) N188D probably damaging Het
Rreb1 A G 13: 38,114,822 (GRCm39) D727G probably benign Het
Sc5d T G 9: 42,166,682 (GRCm39) K286Q probably benign Het
Slc10a5 C T 3: 10,400,342 (GRCm39) G106D possibly damaging Het
Smg6 A T 11: 74,929,472 (GRCm39) Q967L probably damaging Het
Spty2d1 C T 7: 46,644,361 (GRCm39) R636H probably damaging Het
Srms A T 2: 180,850,573 (GRCm39) Y195* probably null Het
Susd4 A G 1: 182,719,759 (GRCm39) D458G probably benign Het
Tecta T C 9: 42,270,220 (GRCm39) R1363G probably damaging Het
Thbs1 G A 2: 117,953,060 (GRCm39) G890D probably damaging Het
Tpp2 T C 1: 43,996,606 (GRCm39) V317A probably benign Het
Ttpa T C 4: 20,021,357 (GRCm39) V175A probably damaging Het
Vps13b G T 15: 35,887,343 (GRCm39) D3251Y probably benign Het
Vps54 A G 11: 21,248,810 (GRCm39) D441G probably benign Het
Zfp738 A T 13: 67,819,096 (GRCm39) Y298* probably null Het
Zfp804a G A 2: 82,087,527 (GRCm39) C452Y possibly damaging Het
Zxdc A G 6: 90,359,461 (GRCm39) K698E possibly damaging Het
Other mutations in Bccip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Bccip APN 7 133,311,105 (GRCm39) missense probably benign 0.20
IGL03345:Bccip APN 7 133,311,220 (GRCm39) missense probably benign
G1Funyon:Bccip UTSW 7 133,320,933 (GRCm39) missense probably benign 0.00
R0071:Bccip UTSW 7 133,315,960 (GRCm39) missense probably damaging 1.00
R0071:Bccip UTSW 7 133,315,960 (GRCm39) missense probably damaging 1.00
R0514:Bccip UTSW 7 133,320,859 (GRCm39) missense possibly damaging 0.80
R4435:Bccip UTSW 7 133,320,942 (GRCm39) missense probably benign 0.00
R4626:Bccip UTSW 7 133,322,457 (GRCm39) missense possibly damaging 0.92
R4648:Bccip UTSW 7 133,316,628 (GRCm39) missense probably damaging 1.00
R5055:Bccip UTSW 7 133,316,652 (GRCm39) missense probably benign 0.13
R5658:Bccip UTSW 7 133,319,349 (GRCm39) missense possibly damaging 0.58
R5986:Bccip UTSW 7 133,322,594 (GRCm39) missense probably benign 0.38
R6328:Bccip UTSW 7 133,319,503 (GRCm39) missense probably damaging 0.97
R6818:Bccip UTSW 7 133,319,488 (GRCm39) missense probably damaging 1.00
R6934:Bccip UTSW 7 133,322,520 (GRCm39) missense probably benign 0.00
R8301:Bccip UTSW 7 133,320,933 (GRCm39) missense probably benign 0.00
R8427:Bccip UTSW 7 133,311,220 (GRCm39) missense probably benign
R9025:Bccip UTSW 7 133,319,346 (GRCm39) nonsense probably null
R9221:Bccip UTSW 7 133,311,249 (GRCm39) missense probably benign 0.00
R9572:Bccip UTSW 7 133,322,478 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTTTATAGCAAAGCCCAGGC -3'
(R):5'- ACAGTGTGTTAGCAAGCAGC -3'

Sequencing Primer
(F):5'- GGCTCATCACATTCTTGGATATAGC -3'
(R):5'- CAGGCTGGCTTCAACTTAGAGATC -3'
Posted On 2014-10-02