Incidental Mutation 'R9572:Bccip'
ID 722056
Institutional Source Beutler Lab
Gene Symbol Bccip
Ensembl Gene ENSMUSG00000030983
Gene Name BRCA2 and CDKN1A interacting protein
Synonyms 1110013J05Rik, TOK-1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9572 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 133311062-133322874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133322478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 275 (D275N)
Ref Sequence ENSEMBL: ENSMUSP00000033282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033282] [ENSMUST00000033290] [ENSMUST00000063669] [ENSMUST00000106139]
AlphaFold Q9CWI3
Predicted Effect probably damaging
Transcript: ENSMUST00000033282
AA Change: D275N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: D275N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,748,477 (GRCm39) S1083P probably damaging Het
Aldh6a1 C A 12: 84,487,017 (GRCm39) R140L probably damaging Het
Aldoart1 T A 4: 72,770,770 (GRCm39) M13L probably benign Het
Anapc1 G T 2: 128,505,976 (GRCm39) T620K probably benign Het
Ano1 T A 7: 144,204,293 (GRCm39) probably null Het
Apol9a C T 15: 77,288,804 (GRCm39) A188T probably benign Het
Ash1l A G 3: 88,960,188 (GRCm39) K2307E probably damaging Het
Astn2 A T 4: 65,299,872 (GRCm39) S1292R unknown Het
Asxl3 T A 18: 22,649,112 (GRCm39) V367D probably benign Het
B3gnt7 T A 1: 86,233,492 (GRCm39) L246Q probably damaging Het
B4gat1 T G 19: 5,089,474 (GRCm39) L157R probably damaging Het
Bag4 A T 8: 26,258,303 (GRCm39) Y341* probably null Het
Cd109 T A 9: 78,567,588 (GRCm39) F267I probably benign Het
Cfap221 T A 1: 119,873,566 (GRCm39) D487V probably damaging Het
Chpt1 T C 10: 88,316,806 (GRCm39) I217M probably damaging Het
Clock T C 5: 76,377,338 (GRCm39) T654A probably benign Het
Ctsr A G 13: 61,310,978 (GRCm39) S23P probably benign Het
Dst T A 1: 34,250,252 (GRCm39) Y2055N probably damaging Het
F7 A T 8: 13,083,953 (GRCm39) I213F probably benign Het
Grb14 A G 2: 64,763,680 (GRCm39) Y232H probably damaging Het
Gsg1l2 A G 11: 67,677,301 (GRCm39) N190S probably benign Het
Hrnr A G 3: 93,239,467 (GRCm39) Y3235C unknown Het
Iws1 T A 18: 32,203,257 (GRCm39) S44R probably damaging Het
Kif26b A T 1: 178,745,042 (GRCm39) T1713S probably benign Het
Lama4 C T 10: 38,959,271 (GRCm39) R1230C probably damaging Het
Lrrcc1 G A 3: 14,601,148 (GRCm39) W60* probably null Het
Mcur1 A G 13: 43,713,433 (GRCm39) F57S probably benign Het
Mrc1 T C 2: 14,234,334 (GRCm39) L4P probably benign Het
Msh5 T C 17: 35,250,369 (GRCm39) Y548C probably damaging Het
Naip5 T C 13: 100,359,821 (GRCm39) T472A probably benign Het
Nckap5 T A 1: 125,955,454 (GRCm39) N366I probably benign Het
Nr4a3 T A 4: 48,051,258 (GRCm39) V4E probably damaging Het
Nuak1 C A 10: 84,228,179 (GRCm39) V175L probably damaging Het
Or2ag13 A G 7: 106,313,546 (GRCm39) L114P probably damaging Het
Or5b106 T A 19: 13,123,928 (GRCm39) I32F possibly damaging Het
Or5w1 A G 2: 87,486,914 (GRCm39) V117A probably benign Het
Or8b49 A T 9: 38,505,627 (GRCm39) I37L probably benign Het
Phactr2 C T 10: 13,264,561 (GRCm39) probably benign Het
Pomk T C 8: 26,472,936 (GRCm39) D339G possibly damaging Het
Ppp2r5e A T 12: 75,562,468 (GRCm39) Y88N probably benign Het
Ptma T A 1: 86,457,697 (GRCm39) V100E unknown Het
Rab3b T C 4: 108,786,725 (GRCm39) probably null Het
Rp1 G A 1: 4,418,662 (GRCm39) H817Y probably benign Het
Rpn1 T A 6: 88,078,994 (GRCm39) I479N probably damaging Het
Sdk1 G A 5: 141,595,784 (GRCm39) G147R probably damaging Het
Serpina3i C A 12: 104,234,743 (GRCm39) T358K probably damaging Het
Siglecf A G 7: 43,002,058 (GRCm39) K231R possibly damaging Het
Skint6 C T 4: 112,985,128 (GRCm39) V413I probably benign Het
Spata7 T C 12: 98,614,655 (GRCm39) C96R probably damaging Het
Sptbn4 A T 7: 27,066,095 (GRCm39) V1991E probably benign Het
Sstr2 A G 11: 113,516,017 (GRCm39) Y312C probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tcerg1l C T 7: 137,881,787 (GRCm39) A301T probably benign Het
Tmub2 T A 11: 102,176,541 (GRCm39) M11K Het
Trpc6 T A 9: 8,656,622 (GRCm39) V761D possibly damaging Het
Ttll13 A T 7: 79,908,008 (GRCm39) N510I probably benign Het
Vcpip1 T C 1: 9,816,770 (GRCm39) N538D possibly damaging Het
Vmn2r100 A T 17: 19,741,513 (GRCm39) Y75F probably benign Het
Vwa5a A G 9: 38,649,239 (GRCm39) I662M probably benign Het
Xkr5 A G 8: 18,984,166 (GRCm39) S459P probably benign Het
Zfp106 G A 2: 120,349,559 (GRCm39) T1644I probably 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
R2171:Bccip UTSW 7 133,320,843 (GRCm39) missense probably benign 0.09
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
Predicted Primers PCR Primer
(F):5'- CCTGAAGTGTGCGTCTGAAC -3'
(R):5'- TGTCACAGACACATGGAACAG -3'

Sequencing Primer
(F):5'- GCGTCTGAACTTACTTTATTCTGAG -3'
(R):5'- GGAACAGAACCCTACTTTTTGTAG -3'
Posted On 2022-08-09