Mutagenetix > Incidental Mutation

Incidental Mutation 'R4626:Bccip'

348783

Institutional Source

Beutler Lab

Gene Symbol

Bccip

Ensembl Gene

ENSMUSG00000030983

Gene Name

BRCA2 and CDKN1A interacting protein

Synonyms

1110013J05Rik, TOK-1

MMRRC Submission

041891-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133311062-133322874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133322457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 268 (Y268H)

Ref Sequence

ENSEMBL: ENSMUSP00000033282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033282] [ENSMUST00000033290] [ENSMUST00000063669] [ENSMUST00000106139]

AlphaFold

Q9CWI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033282
AA Change: Y268H

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: Y268H

Domain	Start	End	E-Value	Type
Pfam:BCIP	58	258	2.1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033290

SMART Domains

Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000136301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151711

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,313,784 (GRCm39)	*527G	probably null	Het
Abca17	A	T	17: 24,540,058 (GRCm39)	I390N	probably damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,693,936 (GRCm39)	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,621,837 (GRCm39)	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,698,193 (GRCm39)	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,481,863 (GRCm39)	D953G	probably damaging	Het
Atxn1	T	C	13: 45,720,575 (GRCm39)	Y440C	probably damaging	Het
Brms1l	C	A	12: 55,909,958 (GRCm39)	P243T	probably benign	Het
Btbd10	T	C	7: 112,927,605 (GRCm39)	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,358,294 (GRCm39)		probably null	Het
Cfhr2	A	T	1: 139,741,314 (GRCm39)	N220K	probably damaging	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,903 (GRCm39)	I831V	possibly damaging	Het
F2	T	A	2: 91,461,015 (GRCm39)	N239I	probably benign	Het
Fbln5	T	A	12: 101,727,086 (GRCm39)	D301V	probably damaging	Het
Fbn2	A	T	18: 58,146,819 (GRCm39)	C2692*	probably null	Het
Fhdc1	C	T	3: 84,381,557 (GRCm39)	D34N	probably damaging	Het
Galnt13	T	A	2: 54,747,878 (GRCm39)	M253K	probably damaging	Het
Gpc6	C	A	14: 118,202,255 (GRCm39)	Y488*	probably null	Het
Grm5	G	T	7: 87,779,361 (GRCm39)	G934C	probably damaging	Het
Gys1	T	C	7: 45,088,958 (GRCm39)	L119S	probably damaging	Het
H2-T15	CTGGGTG	CTG	17: 36,368,788 (GRCm39)		probably null	Het
Htra4	T	C	8: 25,527,130 (GRCm39)	N222D	probably benign	Het
Iba57	A	G	11: 59,049,287 (GRCm39)	V294A	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama5	G	A	2: 179,826,253 (GRCm39)	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,106,158 (GRCm39)	E728K	probably benign	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mettl18	T	A	1: 163,824,045 (GRCm39)	V122E	probably damaging	Het
Mindy2	G	A	9: 70,534,063 (GRCm39)	S378L	probably damaging	Het
Mis18bp1	G	T	12: 65,187,540 (GRCm39)	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,980 (GRCm39)	R106*	probably null	Het
Nup214	T	A	2: 31,923,416 (GRCm39)	V1315E	possibly damaging	Het
Nup58	A	G	14: 60,476,004 (GRCm39)	V271A	probably benign	Het
Or1j1	A	G	2: 36,702,271 (GRCm39)	Y278H	probably damaging	Het
Or4c101	T	C	2: 88,390,176 (GRCm39)	V121A	possibly damaging	Het
Or6f2	T	C	7: 139,756,359 (GRCm39)	S109P	probably damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pcdha11	A	T	18: 37,140,051 (GRCm39)	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,535,302 (GRCm39)	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460 (GRCm39)		probably benign	Het
Poll	C	A	19: 45,543,563 (GRCm39)	M385I	probably benign	Het
Pomt1	A	G	2: 32,144,424 (GRCm39)	K737E	possibly damaging	Het
Prr16	C	T	18: 51,435,911 (GRCm39)	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,510,873 (GRCm39)		probably null	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Scn10a	A	G	9: 119,460,571 (GRCm39)	I1101T	possibly damaging	Het
Slc22a22	T	C	15: 57,126,734 (GRCm39)	T93A	probably damaging	Het
Snx10	A	G	6: 51,565,270 (GRCm39)	D129G	probably damaging	Het
Stub1	A	G	17: 26,050,845 (GRCm39)		probably null	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Trmu	T	C	15: 85,779,186 (GRCm39)	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,239,947 (GRCm39)	F146C	probably damaging	Het
Vav2	T	C	2: 27,160,172 (GRCm39)	I692V	possibly damaging	Het
Wdfy3	A	G	5: 102,091,800 (GRCm39)	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,467,699 (GRCm39)	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,315,844 (GRCm39)	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,542,912 (GRCm39)	F142L	probably damaging	Het

Other mutations in Bccip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TCTGGCCTTGAAATGTTACTCC -3'
(R):5'- ACAAGCCTGTCACTGTCTGG -3'

Sequencing Primer
(F):5'- GGTCCCCTGTGAGTTGAAATG -3'
(R):5'- TCACTGTCTGGGGGAAATGGAC -3'

Posted On

2015-10-08