Mutagenetix > Incidental Mutation

Incidental Mutation 'R5525:Brip1'

431822

Institutional Source

Beutler Lab

Gene Symbol

Brip1

Ensembl Gene

ENSMUSG00000034329

Gene Name

BRCA1 interacting protein C-terminal helicase 1

Synonyms

8030460J03Rik, 3110009N10Rik, BACH1

MMRRC Submission

043083-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5525 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86058138-86201193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86110447 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 721 (E721G)

Ref Sequence

ENSEMBL: ENSMUSP00000043108 (fasta)

Gene Model

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

AlphaFold

Q5SXJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044423
AA Change: E721G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: E721G

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.9%

Validation Efficiency

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
Acan	A	G	7: 79,099,983 (GRCm38)	T1501A	probably benign	Het
Acin1	G	A	14: 54,664,391 (GRCm38)	A648V	possibly damaging	Het
Agap1	A	G	1: 89,743,773 (GRCm38)	T401A	possibly damaging	Het
Anapc4	T	G	5: 52,856,809 (GRCm38)	M440R	probably damaging	Het
Ankrd26	A	G	6: 118,527,731 (GRCm38)	M739T	probably benign	Het
Bzw1	A	G	1: 58,402,906 (GRCm38)	E221G	possibly damaging	Het
Cenpm	A	C	15: 82,239,291 (GRCm38)		probably null	Het
Exosc1	T	A	19: 41,924,018 (GRCm38)	K143N	probably damaging	Het
Fgd5	T	A	6: 92,066,247 (GRCm38)	L1236Q	probably damaging	Het
Gemin6	T	G	17: 80,227,749 (GRCm38)	V46G	probably damaging	Het
Grm3	C	T	5: 9,504,872 (GRCm38)	V807I	probably damaging	Het
Kndc1	A	G	7: 139,924,111 (GRCm38)	N1110S	probably benign	Het
Magi1	A	T	6: 93,792,373 (GRCm38)	V17D	possibly damaging	Het
Mdn1	T	G	4: 32,767,961 (GRCm38)	M5298R	possibly damaging	Het
Nlrp9c	T	A	7: 26,384,501 (GRCm38)	E551V	probably damaging	Het
Oacyl	A	C	18: 65,745,356 (GRCm38)	I457L	probably benign	Het
Or12d13	C	T	17: 37,336,626 (GRCm38)	G202D	probably damaging	Het
Or5p69	A	G	7: 108,367,999 (GRCm38)	I170V	probably benign	Het
Or5t17	A	T	2: 87,002,339 (GRCm38)	E123D	possibly damaging	Het
Rab11fip3	T	C	17: 25,991,295 (GRCm38)	E996G	probably damaging	Het
Rabep1	T	A	11: 70,923,146 (GRCm38)	S554T	probably damaging	Het
Rln1	T	C	19: 29,334,520 (GRCm38)	E26G	probably benign	Het
Rpf1	A	G	3: 146,517,804 (GRCm38)		silent	Het
Sdk1	T	C	5: 142,185,265 (GRCm38)	V1961A	possibly damaging	Het
Serpinb8	A	T	1: 107,607,293 (GRCm38)	I365F	probably damaging	Het
Shank2	A	G	7: 144,070,109 (GRCm38)	D277G	probably damaging	Het
Snapc4	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	2: 26,369,526 (GRCm38)		probably benign	Het
Thsd7a	T	C	6: 12,332,007 (GRCm38)	T1269A	possibly damaging	Het
Ttll3	A	G	6: 113,412,978 (GRCm38)	N776D	probably benign	Het
Unc80	A	G	1: 66,606,614 (GRCm38)	E1483G	possibly damaging	Het
Ush2a	A	G	1: 188,753,606 (GRCm38)	D2971G	probably benign	Het
Zfp322a	A	G	13: 23,357,515 (GRCm38)	V19A	probably benign	Het
Zfp462	C	A	4: 55,050,281 (GRCm38)	P2164T	possibly damaging	Het

Other mutations in Brip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Brip1	APN	11	86,148,401 (GRCm38)	missense	possibly damaging	0.53
IGL01098:Brip1	APN	11	86,108,862 (GRCm38)	missense	possibly damaging	0.71
IGL01503:Brip1	APN	11	86,061,877 (GRCm38)	missense	probably benign	0.33
IGL01602:Brip1	APN	11	86,062,004 (GRCm38)	missense	possibly damaging	0.53
IGL01605:Brip1	APN	11	86,062,004 (GRCm38)	missense	possibly damaging	0.53
IGL01940:Brip1	APN	11	86,064,966 (GRCm38)	missense	probably benign	0.00
IGL02019:Brip1	APN	11	86,197,949 (GRCm38)	missense	possibly damaging	0.73
IGL02212:Brip1	APN	11	86,139,015 (GRCm38)	missense	possibly damaging	0.86
IGL02456:Brip1	APN	11	86,065,099 (GRCm38)	missense	possibly damaging	0.71
IGL02727:Brip1	APN	11	86,152,736 (GRCm38)	missense	probably benign	0.02
IGL02983:Brip1	APN	11	86,139,124 (GRCm38)	missense	probably benign	0.03
IGL03022:Brip1	APN	11	86,077,950 (GRCm38)	missense	probably damaging	0.98
IGL03116:Brip1	APN	11	86,064,909 (GRCm38)	nonsense	probably null
IGL03143:Brip1	APN	11	86,061,827 (GRCm38)	missense	possibly damaging	0.53
blip	UTSW	11	86,074,298 (GRCm38)	missense	possibly damaging	0.85
Microwave	UTSW	11	86,152,706 (GRCm38)	missense	possibly damaging	0.93
radar	UTSW	11	86,152,669 (GRCm38)	nonsense	probably null
P0018:Brip1	UTSW	11	86,108,868 (GRCm38)	missense	possibly damaging	0.51
R0011:Brip1	UTSW	11	86,186,998 (GRCm38)	missense	possibly damaging	0.72
R0011:Brip1	UTSW	11	86,186,998 (GRCm38)	missense	possibly damaging	0.72
R0446:Brip1	UTSW	11	86,157,601 (GRCm38)	missense	probably damaging	0.98
R0498:Brip1	UTSW	11	86,197,919 (GRCm38)	missense	possibly damaging	0.96
R0599:Brip1	UTSW	11	86,152,737 (GRCm38)	missense	probably benign
R0653:Brip1	UTSW	11	86,152,658 (GRCm38)	missense	possibly damaging	0.85
R0661:Brip1	UTSW	11	86,110,363 (GRCm38)	missense	possibly damaging	0.86
R0671:Brip1	UTSW	11	86,152,667 (GRCm38)	missense	possibly damaging	0.93
R0718:Brip1	UTSW	11	86,143,305 (GRCm38)	missense	possibly damaging	0.96
R0750:Brip1	UTSW	11	86,061,499 (GRCm38)	missense	possibly damaging	0.53
R0834:Brip1	UTSW	11	86,192,827 (GRCm38)	missense	probably benign
R1128:Brip1	UTSW	11	86,064,937 (GRCm38)	missense	possibly damaging	0.86
R1726:Brip1	UTSW	11	86,064,914 (GRCm38)	missense	probably benign	0.17
R1813:Brip1	UTSW	11	86,187,080 (GRCm38)	missense	possibly damaging	0.53
R1885:Brip1	UTSW	11	86,138,815 (GRCm38)	missense	probably damaging	1.00
R1886:Brip1	UTSW	11	86,138,815 (GRCm38)	missense	probably damaging	1.00
R2093:Brip1	UTSW	11	86,139,145 (GRCm38)	missense	possibly damaging	0.53
R2206:Brip1	UTSW	11	86,061,877 (GRCm38)	missense	probably benign	0.33
R2207:Brip1	UTSW	11	86,061,877 (GRCm38)	missense	probably benign	0.33
R3404:Brip1	UTSW	11	86,143,263 (GRCm38)	missense	possibly damaging	0.96
R3421:Brip1	UTSW	11	86,152,669 (GRCm38)	nonsense	probably null
R3876:Brip1	UTSW	11	86,152,790 (GRCm38)	missense	probably damaging	0.98
R4018:Brip1	UTSW	11	86,138,851 (GRCm38)	missense	possibly damaging	0.86
R4092:Brip1	UTSW	11	86,148,521 (GRCm38)	missense	possibly damaging	0.92
R4384:Brip1	UTSW	11	86,148,429 (GRCm38)	missense	possibly damaging	0.70
R4394:Brip1	UTSW	11	86,074,298 (GRCm38)	missense	possibly damaging	0.85
R4518:Brip1	UTSW	11	86,077,878 (GRCm38)	missense	possibly damaging	0.92
R4522:Brip1	UTSW	11	86,189,801 (GRCm38)	missense	possibly damaging	0.49
R4840:Brip1	UTSW	11	86,146,183 (GRCm38)	missense	possibly damaging	0.86
R5025:Brip1	UTSW	11	86,064,980 (GRCm38)	missense	probably benign	0.04
R5176:Brip1	UTSW	11	86,077,884 (GRCm38)	missense	probably damaging	0.98
R5213:Brip1	UTSW	11	86,143,321 (GRCm38)	missense	possibly damaging	0.73
R5470:Brip1	UTSW	11	86,148,542 (GRCm38)	missense	possibly damaging	0.71
R6057:Brip1	UTSW	11	86,065,039 (GRCm38)	missense	possibly damaging	0.73
R6819:Brip1	UTSW	11	86,110,441 (GRCm38)	missense	possibly damaging	0.51
R6908:Brip1	UTSW	11	86,077,884 (GRCm38)	missense	probably damaging	0.98
R6920:Brip1	UTSW	11	86,148,536 (GRCm38)	nonsense	probably null
R7053:Brip1	UTSW	11	86,192,965 (GRCm38)	missense	possibly damaging	0.53
R7235:Brip1	UTSW	11	86,138,875 (GRCm38)	missense	possibly damaging	0.53
R7253:Brip1	UTSW	11	86,143,278 (GRCm38)	missense	possibly damaging	0.96
R7347:Brip1	UTSW	11	86,139,103 (GRCm38)	missense	probably benign	0.34
R7476:Brip1	UTSW	11	86,157,808 (GRCm38)	missense	probably benign	0.33
R7580:Brip1	UTSW	11	86,157,601 (GRCm38)	missense	probably damaging	0.98
R7639:Brip1	UTSW	11	86,152,822 (GRCm38)	splice site	probably null
R7771:Brip1	UTSW	11	86,062,024 (GRCm38)	missense	probably benign	0.02
R8125:Brip1	UTSW	11	86,186,991 (GRCm38)	missense	possibly damaging	0.73
R8236:Brip1	UTSW	11	86,139,112 (GRCm38)	missense	probably damaging	0.98
R8509:Brip1	UTSW	11	86,197,948 (GRCm38)	nonsense	probably null
R8815:Brip1	UTSW	11	86,189,772 (GRCm38)	missense	probably benign	0.17
R8877:Brip1	UTSW	11	86,152,706 (GRCm38)	missense	possibly damaging	0.93
R8938:Brip1	UTSW	11	86,148,401 (GRCm38)	missense	possibly damaging	0.53
R9038:Brip1	UTSW	11	86,189,773 (GRCm38)	missense	probably benign	0.01
R9104:Brip1	UTSW	11	86,187,071 (GRCm38)	missense	possibly damaging	0.86
R9466:Brip1	UTSW	11	86,157,758 (GRCm38)	missense	possibly damaging	0.71
R9645:Brip1	UTSW	11	86,061,686 (GRCm38)	missense	probably benign	0.18
R9703:Brip1	UTSW	11	86,062,004 (GRCm38)	missense	possibly damaging	0.53
R9774:Brip1	UTSW	11	86,187,012 (GRCm38)	missense	possibly damaging	0.73
X0060:Brip1	UTSW	11	86,152,619 (GRCm38)	missense	possibly damaging	0.71
X0062:Brip1	UTSW	11	86,143,356 (GRCm38)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AGGCATTTACACGTATCCTACCT -3'
(R):5'- GAGCCTATCAGGAGACAGCT -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CAGGAGACAGCTATATTAGTCTCC -3'

Posted On

2016-10-05