Mutagenetix > Incidental Mutation

Incidental Mutation 'R0011:Brip1'

8023

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

038306-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0011 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85948964-86092019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86077824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 201 (K201N)

Ref Sequence

ENSEMBL: ENSMUSP00000043108 (fasta)

Gene Model

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

AlphaFold

Q5SXJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044423
AA Change: K201N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: K201N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121382

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 78.3%
3x: 67.8%
10x: 41.6%
20x: 22.3%

Validation Efficiency

92% (85/92)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,815,281 (GRCm39)		probably benign	Het
Art3	T	A	5: 92,551,471 (GRCm39)	Y17N	probably damaging	Het
Asic3	C	T	5: 24,622,490 (GRCm39)		probably benign	Het
Ccdc88a	T	C	11: 29,324,364 (GRCm39)	F6S	probably damaging	Het
Cdcp3	T	A	7: 130,831,722 (GRCm39)	L389Q	probably damaging	Het
Cfap54	A	T	10: 92,901,087 (GRCm39)	C156S	probably damaging	Het
Chia1	A	G	3: 106,038,290 (GRCm39)		probably benign	Het
Cops4	C	A	5: 100,675,847 (GRCm39)	Q28K	probably benign	Het
Dnai7	T	A	6: 145,124,781 (GRCm39)	M515L	probably damaging	Het
Epha7	G	A	4: 28,962,564 (GRCm39)	D961N	probably benign	Het
Grin2c	T	C	11: 115,146,576 (GRCm39)	Y476C	probably damaging	Het
Ift70a2	T	A	2: 75,806,561 (GRCm39)	R650S	probably damaging	Het
Igf2bp1	T	C	11: 95,896,410 (GRCm39)	D17G	probably damaging	Het
Kidins220	T	A	12: 25,049,351 (GRCm39)	V322E	probably damaging	Het
Krt35	T	A	11: 99,984,502 (GRCm39)	Q331L	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Msh2	T	C	17: 87,987,521 (GRCm39)		probably benign	Het
Ncoa1	A	C	12: 4,372,896 (GRCm39)	F57L	possibly damaging	Het
Npy4r	C	T	14: 33,868,680 (GRCm39)	V203M	probably damaging	Het
Pcdhgb8	T	C	18: 37,897,335 (GRCm39)	S802P	probably benign	Het
Ralgapa1	A	G	12: 55,833,048 (GRCm39)	S152P	probably damaging	Het
Rasgef1b	T	C	5: 99,380,213 (GRCm39)	Y344C	probably damaging	Het
Rdh19	T	A	10: 127,692,780 (GRCm39)	L149Q	probably damaging	Het
Shtn1	A	G	19: 59,020,650 (GRCm39)	S191P	possibly damaging	Het
Tmem202	T	A	9: 59,432,084 (GRCm39)	N81I	probably benign	Het
Trim58	A	T	11: 58,533,946 (GRCm39)	T167S	probably benign	Het
Trp53i11	A	T	2: 93,029,698 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,640,699 (GRCm39)	H5356R	probably damaging	Het
Tyrp1	C	T	4: 80,759,030 (GRCm39)	T301I	probably damaging	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Wscd1	T	C	11: 71,679,654 (GRCm39)	V509A	probably damaging	Het
Zfp251	A	G	15: 76,738,754 (GRCm39)	V108A	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
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
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

Posted On

2012-11-20