Mutagenetix > Incidental Mutation

Incidental Mutation 'R1128:Brip1'

96412

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

039201-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85948964-86092019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85955763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 917 (L917M)

Ref Sequence

ENSEMBL: ENSMUSP00000043108 (fasta)

Gene Model

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

AlphaFold

Q5SXJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044423
AA Change: L917M

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

SMART Domains

Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: L917M

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.4%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Amhr2	A	T	15: 102,361,256 (GRCm39)	Q402L	probably benign	Het
Dennd5a	G	A	7: 109,520,541 (GRCm39)	R415*	probably null	Het
Eif2ak1	G	T	5: 143,835,994 (GRCm39)		probably null	Het
Golga4	G	A	9: 118,377,852 (GRCm39)	A458T	probably benign	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Ift88	C	T	14: 57,754,476 (GRCm39)	R762*	probably null	Het
Kansl2	A	T	15: 98,431,566 (GRCm39)	C28*	probably null	Het
Lct	T	C	1: 128,229,046 (GRCm39)	R816G	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Obscn	T	C	11: 58,919,769 (GRCm39)	N6809S	probably null	Het
Pak6	A	G	2: 118,526,990 (GRCm39)	T662A	probably benign	Het
Pglyrp3	T	C	3: 91,935,479 (GRCm39)	F243S	probably benign	Het
Rab44	T	C	17: 29,359,435 (GRCm39)	V541A	possibly damaging	Het
Slc39a6	G	T	18: 24,718,349 (GRCm39)	H569Q	probably damaging	Het
Slc4a7	T	C	14: 14,733,832 (GRCm38)	S87P	probably damaging	Het
Spocd1	T	C	4: 129,850,599 (GRCm39)	V875A	possibly damaging	Het
Tspan17	A	G	13: 54,942,984 (GRCm39)	D146G	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGGAAACACCGTGGCTTGCTACTG -3'
(R):5'- TCCGACTGTGGCTTACGAACACTG -3'

Sequencing Primer
(F):5'- GCTTGCTACTGAGGGGC -3'
(R):5'- acactgcctgcattttcaac -3'

Posted On

2014-01-05