Mutagenetix > Incidental Mutation

Incidental Mutation 'R4018:Brip1'

312025

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

040848-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85948964-86092019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86029677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 619 (T619K)

Ref Sequence

ENSEMBL: ENSMUSP00000043108 (fasta)

Gene Model

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

AlphaFold

Q5SXJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044423
AA Change: T619K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: T619K

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

Meta Mutation Damage Score

0.9673

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 92.4%

Validation Efficiency

100% (33/33)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	A	G	8: 53,976,226 (GRCm39)	K319R	probably benign	Het
Cd300ld2	G	T	11: 114,903,330 (GRCm39)		probably benign	Het
Cd300lg	A	G	11: 101,932,420 (GRCm39)	R2G	probably damaging	Het
Celsr2	C	T	3: 108,302,281 (GRCm39)	V2616I	possibly damaging	Het
Cfap251	A	G	5: 123,460,517 (GRCm39)	I1160V	probably benign	Het
Edem3	C	T	1: 151,680,577 (GRCm39)		probably benign	Het
Endou	T	A	15: 97,616,818 (GRCm39)	K235M	probably damaging	Het
Gm5431	T	A	11: 48,779,995 (GRCm39)	N309I	probably damaging	Het
Il4	T	A	11: 53,504,806 (GRCm39)		probably benign	Het
Iws1	C	A	18: 32,203,205 (GRCm39)	S27*	probably null	Het
Kdm5d	T	C	Y: 910,441 (GRCm39)		probably benign	Het
Ldb3	T	C	14: 34,274,128 (GRCm39)		probably benign	Het
Llgl2	A	G	11: 115,738,438 (GRCm39)	T284A	probably benign	Het
Maml1	A	T	11: 50,156,611 (GRCm39)	N521K	probably damaging	Het
Mlxipl	T	C	5: 135,161,526 (GRCm39)	Y482H	probably damaging	Het
Notch2	G	T	3: 98,011,881 (GRCm39)	C633F	probably damaging	Het
Oc90	T	C	15: 65,759,457 (GRCm39)	D232G	probably benign	Het
Or5b101	T	C	19: 13,005,189 (GRCm39)	E168G	probably benign	Het
Polr2a	T	C	11: 69,625,885 (GRCm39)	Y1717C	unknown	Het
Prkca	T	A	11: 107,830,428 (GRCm39)	I221F	probably damaging	Het
Rab3c	T	A	13: 110,220,728 (GRCm39)	K144N	probably damaging	Het
Ryr2	T	A	13: 11,933,300 (GRCm39)	N57I	probably damaging	Het
Scyl3	A	G	1: 163,764,068 (GRCm39)	T145A	possibly damaging	Het
Septin4	G	A	11: 87,475,947 (GRCm39)	R162Q	probably damaging	Het
Slc25a39	A	T	11: 102,295,850 (GRCm39)	L127H	probably damaging	Het
Slc9a9	T	C	9: 94,567,216 (GRCm39)	V95A	probably benign	Het
Tsc2	T	C	17: 24,844,255 (GRCm39)	I279V	probably damaging	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r6	T	C	3: 64,463,893 (GRCm39)	I314V	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
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
R7639:Brip1	UTSW	11	86,043,648 (GRCm39)	splice site	probably null
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'- GGGAATCGCCTATCAGACTCTG -3'
(R):5'- GAGTTAATGCGCTAAACTTTTGGTG -3'

Sequencing Primer
(F):5'- ATCGCCTATCAGACTCTGCTTATAAG -3'
(R):5'- GTTTAAATCCAGCTGTGGTAAGC -3'

Posted On

2015-04-29