Mutagenetix > Incidental Mutation

Incidental Mutation 'R5986:Bccip'

481652

Institutional Source

Beutler Lab

Gene Symbol

Bccip

Ensembl Gene

ENSMUSG00000030983

Gene Name

BRCA2 and CDKN1A interacting protein

Synonyms

1110013J05Rik, TOK-1

MMRRC Submission

044166-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133311062-133322874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133322594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 313 (H313Q)

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: H313Q

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: H313Q

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,566,145 (GRCm39)	F992I	probably damaging	Het
Ampd1	T	C	3: 102,992,713 (GRCm39)	F152L	probably damaging	Het
Ank2	T	C	3: 126,806,335 (GRCm39)	H602R	possibly damaging	Het
Ankib1	T	C	5: 3,797,071 (GRCm39)	D247G	probably damaging	Het
Ccdc198	A	T	14: 49,470,403 (GRCm39)	L172H	probably damaging	Het
Cep250	A	G	2: 155,821,197 (GRCm39)	E929G	probably damaging	Het
Chl1	C	A	6: 103,686,152 (GRCm39)	L954I	probably benign	Het
Cog5	A	T	12: 31,710,716 (GRCm39)	D32V	probably benign	Het
Cyp4f16	C	A	17: 32,763,116 (GRCm39)	A187E	probably benign	Het
Dffb	A	T	4: 154,050,050 (GRCm39)	V271E	probably damaging	Het
Dnah8	A	G	17: 31,070,604 (GRCm39)	Y4430C	possibly damaging	Het
Dpp3	T	C	19: 4,968,385 (GRCm39)	E229G	probably benign	Het
Fat3	T	A	9: 15,909,613 (GRCm39)	N2130Y	probably benign	Het
Kcnk3	T	C	5: 30,745,722 (GRCm39)	V21A	possibly damaging	Het
Kif9	G	A	9: 110,319,094 (GRCm39)	S186N	probably benign	Het
Lhfpl3	C	A	5: 22,951,424 (GRCm39)	N78K	probably benign	Het
Ly6c1	A	G	15: 74,917,457 (GRCm39)	S64P	probably damaging	Het
Mapk10	T	C	5: 103,186,446 (GRCm39)	T59A	probably benign	Het
Mars1	A	T	10: 127,140,171 (GRCm39)	C394*	probably null	Het
Mettl16	T	A	11: 74,683,063 (GRCm39)	D168E	possibly damaging	Het
Mgat2	A	T	12: 69,232,158 (GRCm39)	Q244L	probably benign	Het
Mrps30	A	G	13: 118,521,101 (GRCm39)		probably null	Het
Myrip	C	A	9: 120,290,487 (GRCm39)	A702E	probably damaging	Het
Nepn	T	C	10: 52,280,168 (GRCm39)	L420P	probably damaging	Het
Nrn1	A	T	13: 36,918,238 (GRCm39)	Y9*	probably null	Het
Nup107	T	C	10: 117,595,081 (GRCm39)	Y752C	probably damaging	Het
Nutm2	A	T	13: 50,628,496 (GRCm39)	D520V	probably damaging	Het
Olfm2	C	T	9: 20,586,946 (GRCm39)	C48Y	probably damaging	Het
Or52j3	T	C	7: 102,836,735 (GRCm39)	F309S	possibly damaging	Het
Or8g19	A	G	9: 39,056,278 (GRCm39)	N294S	probably null	Het
Osbpl1a	T	A	18: 13,038,138 (GRCm39)	D271V	probably damaging	Het
Osmr	G	T	15: 6,873,934 (GRCm39)	D154E	probably benign	Het
Pcdh9	A	G	14: 94,124,484 (GRCm39)	V562A	probably damaging	Het
Peak1	A	C	9: 56,166,726 (GRCm39)	S401A	probably benign	Het
Pigk	A	T	3: 152,446,486 (GRCm39)	H195L	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Ppp2r1a	C	T	17: 21,171,608 (GRCm39)	R28C	probably damaging	Het
Pramel30	G	T	4: 144,059,323 (GRCm39)	V345F	probably damaging	Het
Ptbp3	T	C	4: 59,493,311 (GRCm39)	D123G	probably benign	Het
Ptgr2	G	A	12: 84,355,120 (GRCm39)	E285K	possibly damaging	Het
Rassf1	G	T	9: 107,429,021 (GRCm39)	V76L	possibly damaging	Het
Sec22a	A	G	16: 35,134,461 (GRCm39)	V307A	probably damaging	Het
Skint5	C	T	4: 113,852,845 (GRCm39)	V18I	probably benign	Het
Slc1a5	T	C	7: 16,516,151 (GRCm39)	V109A	probably benign	Het
St8sia5	T	A	18: 77,342,478 (GRCm39)	M396K	possibly damaging	Het
Tiam1	T	C	16: 89,586,074 (GRCm39)	E602G	probably benign	Het
Tll1	T	C	8: 64,527,297 (GRCm39)	E408G	probably damaging	Het
Tpsb2	G	A	17: 25,586,108 (GRCm39)	V109M	probably benign	Het
Trib1	T	A	15: 59,526,451 (GRCm39)		probably null	Het
Trio	G	T	15: 27,852,019 (GRCm39)	A765E	possibly damaging	Het
Uggt2	A	T	14: 119,286,838 (GRCm39)	V193E	probably damaging	Het
Vmn1r115	G	A	7: 20,578,447 (GRCm39)	P155L	probably benign	Het
Wdr31	A	G	4: 62,374,113 (GRCm39)	L292S	probably benign	Het
Xrra1	T	C	7: 99,525,462 (GRCm39)	I127T	probably benign	Het
Yju2	G	A	17: 56,269,030 (GRCm39)	C46Y	probably damaging	Het
Zfp442	G	A	2: 150,249,944 (GRCm39)	Q596*	probably null	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
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
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'- CCTTTGCTACAGAAGGCAATCTTG -3'
(R):5'- GCCCTGGACATGAACACTTC -3'

Sequencing Primer
(F):5'- GCAATCTTGAAGTTCAGCTACTCGG -3'
(R):5'- CCTGGACATGAACACTTCAAGTATG -3'

Posted On

2017-06-26