Mutagenetix > Incidental Mutation

Incidental Mutation 'R7639:Brip1'

628303

Institutional Source

Beutler Lab

Gene Symbol

Brip1

Ensembl Gene

ENSMUSG00000034329

Gene Name

BRCA1 interacting protein C-terminal helicase 1

Synonyms

8030460J03Rik, BACH1, 3110009N10Rik

MMRRC Submission

045697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7639 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85948964-86092019 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 86043648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044423]

AlphaFold

Q5SXJ3

Predicted Effect

probably null
Transcript: ENSMUST00000044423

SMART Domains

Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329

Domain	Start	End	E-Value	Type
DEXDc	17	520	1.4e-3	SMART
HELICc	701	854	8.2e-41	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: This gene encodes a member of the DEAH subfamily of DEAD box helicases. A similar protein in humans is both a DNA-dependent ATPase and a 5-prime-to-3-prime DNA helicase, and plays a role in the repair of DNA double stranded breaks through interaction with the breast cancer-associated tumor suppressor BRCA1. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,977,531 (GRCm39)	M381L	probably benign	Het
Abl1	T	A	2: 31,669,173 (GRCm39)	L184Q	probably damaging	Het
Atp8b1	A	G	18: 64,697,614 (GRCm39)	V410A	possibly damaging	Het
Bhmt2	C	T	13: 93,799,822 (GRCm39)	G205R	probably damaging	Het
Bicd1	A	G	6: 149,414,502 (GRCm39)	D405G	possibly damaging	Het
Ccdc180	A	T	4: 45,928,043 (GRCm39)	I1193F	possibly damaging	Het
Cdc14b	A	G	13: 64,353,143 (GRCm39)	C478R	possibly damaging	Het
Celsr1	C	T	15: 85,814,073 (GRCm39)	E1950K	probably benign	Het
Cnot7	A	G	8: 40,960,494 (GRCm39)		probably null	Het
Defa34	A	T	8: 22,155,883 (GRCm39)	K24I	probably benign	Het
Dsg4	G	T	18: 20,582,769 (GRCm39)	D136Y	probably damaging	Het
Dync2h1	C	A	9: 7,141,254 (GRCm39)	V1258F	probably damaging	Het
Erbb3	A	G	10: 128,405,716 (GRCm39)	S1181P	probably damaging	Het
Evl	A	G	12: 108,652,362 (GRCm39)	D366G	probably damaging	Het
Fam234b	A	T	6: 135,202,798 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,018,134 (GRCm39)		probably null	Het
Fbxo46	T	A	7: 18,870,560 (GRCm39)	V393E	probably damaging	Het
Gkap1	T	G	13: 58,411,784 (GRCm39)	K63T	probably damaging	Het
Hfm1	T	A	5: 107,037,791 (GRCm39)	D742V	probably benign	Het
Hfm1	A	G	5: 107,046,341 (GRCm39)	V515A	possibly damaging	Het
Itga10	G	A	3: 96,556,898 (GRCm39)	V207I	probably benign	Het
Lipi	T	A	16: 75,357,743 (GRCm39)	Y274F	probably benign	Het
Mettl8	A	T	2: 70,812,526 (GRCm39)	S36R	probably benign	Het
Miip	A	T	4: 147,947,021 (GRCm39)	M244K	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Nav1	T	C	1: 135,398,860 (GRCm39)	N574S	probably benign	Het
Nlrc4	C	T	17: 74,754,952 (GRCm39)		probably null	Het
Oas2	C	T	5: 120,883,751 (GRCm39)	W244*	probably null	Het
Oat	A	T	7: 132,168,530 (GRCm39)	I163N	probably damaging	Het
Or7a41	A	G	10: 78,871,206 (GRCm39)	D192G	probably damaging	Het
Otop3	T	C	11: 115,235,187 (GRCm39)	M273T	possibly damaging	Het
Poln	A	C	5: 34,290,495 (GRCm39)	V60G	possibly damaging	Het
Ppp1r13b	G	T	12: 111,800,049 (GRCm39)	A699E	probably damaging	Het
Rims1	A	T	1: 22,844,750 (GRCm39)	M19K	probably benign	Het
Rnf145	T	C	11: 44,422,184 (GRCm39)	L89P	probably damaging	Het
Rock1	A	G	18: 10,140,244 (GRCm39)	S116P	probably damaging	Het
Rtn3	C	T	19: 7,435,356 (GRCm39)	C212Y	probably benign	Het
Smcp	G	A	3: 92,491,797 (GRCm39)	P17S	unknown	Het
Syne2	A	C	12: 75,981,273 (GRCm39)	E1525A	probably damaging	Het
Tpra1	A	G	6: 88,887,158 (GRCm39)	D172G	probably benign	Het
Traf2	TAGA	TA	2: 25,427,100 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,957,137 (GRCm39)	T760A	probably benign	Het
Unc13c	T	A	9: 73,840,450 (GRCm39)	S134C	probably damaging	Het
Zfp729b	C	T	13: 67,739,971 (GRCm39)	V765I	probably benign	Het

Other mutations in Brip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Brip1	APN	11	86,039,227 (GRCm39)	missense	possibly damaging	0.53
IGL01098:Brip1	APN	11	85,999,688 (GRCm39)	missense	possibly damaging	0.71
IGL01503:Brip1	APN	11	85,952,703 (GRCm39)	missense	probably benign	0.33
IGL01602:Brip1	APN	11	85,952,830 (GRCm39)	missense	possibly damaging	0.53
IGL01605:Brip1	APN	11	85,952,830 (GRCm39)	missense	possibly damaging	0.53
IGL01940:Brip1	APN	11	85,955,792 (GRCm39)	missense	probably benign	0.00
IGL02019:Brip1	APN	11	86,088,775 (GRCm39)	missense	possibly damaging	0.73
IGL02212:Brip1	APN	11	86,029,841 (GRCm39)	missense	possibly damaging	0.86
IGL02456:Brip1	APN	11	85,955,925 (GRCm39)	missense	possibly damaging	0.71
IGL02727:Brip1	APN	11	86,043,562 (GRCm39)	missense	probably benign	0.02
IGL02983:Brip1	APN	11	86,029,950 (GRCm39)	missense	probably benign	0.03
IGL03022:Brip1	APN	11	85,968,776 (GRCm39)	missense	probably damaging	0.98
IGL03116:Brip1	APN	11	85,955,735 (GRCm39)	nonsense	probably null
IGL03143:Brip1	APN	11	85,952,653 (GRCm39)	missense	possibly damaging	0.53
blip	UTSW	11	85,965,124 (GRCm39)	missense	possibly damaging	0.85
Microwave	UTSW	11	86,043,532 (GRCm39)	missense	possibly damaging	0.93
radar	UTSW	11	86,043,495 (GRCm39)	nonsense	probably null
P0018:Brip1	UTSW	11	85,999,694 (GRCm39)	missense	possibly damaging	0.51
R0011:Brip1	UTSW	11	86,077,824 (GRCm39)	missense	possibly damaging	0.72
R0011:Brip1	UTSW	11	86,077,824 (GRCm39)	missense	possibly damaging	0.72
R0446:Brip1	UTSW	11	86,048,427 (GRCm39)	missense	probably damaging	0.98
R0498:Brip1	UTSW	11	86,088,745 (GRCm39)	missense	possibly damaging	0.96
R0599:Brip1	UTSW	11	86,043,563 (GRCm39)	missense	probably benign
R0653:Brip1	UTSW	11	86,043,484 (GRCm39)	missense	possibly damaging	0.85
R0661:Brip1	UTSW	11	86,001,189 (GRCm39)	missense	possibly damaging	0.86
R0671:Brip1	UTSW	11	86,043,493 (GRCm39)	missense	possibly damaging	0.93
R0718:Brip1	UTSW	11	86,034,131 (GRCm39)	missense	possibly damaging	0.96
R0750:Brip1	UTSW	11	85,952,325 (GRCm39)	missense	possibly damaging	0.53
R0834:Brip1	UTSW	11	86,083,653 (GRCm39)	missense	probably benign
R1128:Brip1	UTSW	11	85,955,763 (GRCm39)	missense	possibly damaging	0.86
R1726:Brip1	UTSW	11	85,955,740 (GRCm39)	missense	probably benign	0.17
R1813:Brip1	UTSW	11	86,077,906 (GRCm39)	missense	possibly damaging	0.53
R1885:Brip1	UTSW	11	86,029,641 (GRCm39)	missense	probably damaging	1.00
R1886:Brip1	UTSW	11	86,029,641 (GRCm39)	missense	probably damaging	1.00
R2093:Brip1	UTSW	11	86,029,971 (GRCm39)	missense	possibly damaging	0.53
R2206:Brip1	UTSW	11	85,952,703 (GRCm39)	missense	probably benign	0.33
R2207:Brip1	UTSW	11	85,952,703 (GRCm39)	missense	probably benign	0.33
R3404:Brip1	UTSW	11	86,034,089 (GRCm39)	missense	possibly damaging	0.96
R3421:Brip1	UTSW	11	86,043,495 (GRCm39)	nonsense	probably null
R3876:Brip1	UTSW	11	86,043,616 (GRCm39)	missense	probably damaging	0.98
R4018:Brip1	UTSW	11	86,029,677 (GRCm39)	missense	possibly damaging	0.86
R4092:Brip1	UTSW	11	86,039,347 (GRCm39)	missense	possibly damaging	0.92
R4384:Brip1	UTSW	11	86,039,255 (GRCm39)	missense	possibly damaging	0.70
R4394:Brip1	UTSW	11	85,965,124 (GRCm39)	missense	possibly damaging	0.85
R4518:Brip1	UTSW	11	85,968,704 (GRCm39)	missense	possibly damaging	0.92
R4522:Brip1	UTSW	11	86,080,627 (GRCm39)	missense	possibly damaging	0.49
R4840:Brip1	UTSW	11	86,037,009 (GRCm39)	missense	possibly damaging	0.86
R5025:Brip1	UTSW	11	85,955,806 (GRCm39)	missense	probably benign	0.04
R5176:Brip1	UTSW	11	85,968,710 (GRCm39)	missense	probably damaging	0.98
R5213:Brip1	UTSW	11	86,034,147 (GRCm39)	missense	possibly damaging	0.73
R5470:Brip1	UTSW	11	86,039,368 (GRCm39)	missense	possibly damaging	0.71
R5525:Brip1	UTSW	11	86,001,273 (GRCm39)	missense	possibly damaging	0.85
R6057:Brip1	UTSW	11	85,955,865 (GRCm39)	missense	possibly damaging	0.73
R6819:Brip1	UTSW	11	86,001,267 (GRCm39)	missense	possibly damaging	0.51
R6908:Brip1	UTSW	11	85,968,710 (GRCm39)	missense	probably damaging	0.98
R6920:Brip1	UTSW	11	86,039,362 (GRCm39)	nonsense	probably null
R7053:Brip1	UTSW	11	86,083,791 (GRCm39)	missense	possibly damaging	0.53
R7235:Brip1	UTSW	11	86,029,701 (GRCm39)	missense	possibly damaging	0.53
R7253:Brip1	UTSW	11	86,034,104 (GRCm39)	missense	possibly damaging	0.96
R7347:Brip1	UTSW	11	86,029,929 (GRCm39)	missense	probably benign	0.34
R7476:Brip1	UTSW	11	86,048,634 (GRCm39)	missense	probably benign	0.33
R7580:Brip1	UTSW	11	86,048,427 (GRCm39)	missense	probably damaging	0.98
R7771:Brip1	UTSW	11	85,952,850 (GRCm39)	missense	probably benign	0.02
R8125:Brip1	UTSW	11	86,077,817 (GRCm39)	missense	possibly damaging	0.73
R8236:Brip1	UTSW	11	86,029,938 (GRCm39)	missense	probably damaging	0.98
R8509:Brip1	UTSW	11	86,088,774 (GRCm39)	nonsense	probably null
R8815:Brip1	UTSW	11	86,080,598 (GRCm39)	missense	probably benign	0.17
R8877:Brip1	UTSW	11	86,043,532 (GRCm39)	missense	possibly damaging	0.93
R8938:Brip1	UTSW	11	86,039,227 (GRCm39)	missense	possibly damaging	0.53
R9038:Brip1	UTSW	11	86,080,599 (GRCm39)	missense	probably benign	0.01
R9104:Brip1	UTSW	11	86,077,897 (GRCm39)	missense	possibly damaging	0.86
R9466:Brip1	UTSW	11	86,048,584 (GRCm39)	missense	possibly damaging	0.71
R9645:Brip1	UTSW	11	85,952,512 (GRCm39)	missense	probably benign	0.18
R9703:Brip1	UTSW	11	85,952,830 (GRCm39)	missense	possibly damaging	0.53
R9774:Brip1	UTSW	11	86,077,838 (GRCm39)	missense	possibly damaging	0.73
X0060:Brip1	UTSW	11	86,043,445 (GRCm39)	missense	possibly damaging	0.71
X0062:Brip1	UTSW	11	86,034,182 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CAGCATCCTCTATCAGTTCTCGAG -3'
(R):5'- TCATCCTTTCAGAAATGTTATGGC -3'

Sequencing Primer
(F):5'- AGCTGTATAGTAGGGACAAGCTTTC -3'
(R):5'- TGTACTTCCAGCTCCACGAGATAG -3'

Posted On

2020-02-27