Mutagenetix > Incidental Mutation

Incidental Mutation 'R1467:Brca1'

197637

Institutional Source

Beutler Lab

Gene Symbol

Brca1

Ensembl Gene

ENSMUSG00000017146

Gene Name

breast cancer 1, early onset

Synonyms

MMRRC Submission

039520-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1467 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101379590-101442781 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 101421933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000142086] [ENSMUST00000190862]

AlphaFold

P48754

Predicted Effect

probably benign
Transcript: ENSMUST00000017290

SMART Domains

Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146

Domain	Start	End	E-Value	Type
RING	24	64	1.82e-7	SMART
Pfam:BRCT_assoc	342	503	2.6e-69	PFAM
low complexity region	1173	1185	N/A	INTRINSIC
Blast:BRCT	1343	1406	2e-16	BLAST
low complexity region	1555	1575	N/A	INTRINSIC
BRCT	1587	1669	3.87e-11	SMART
BRCT	1700	1787	3.42e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142086

SMART Domains

Protein: ENSMUSP00000139813
Gene: ENSMUSG00000017146

Domain	Start	End	E-Value	Type
RING	24	64	8.6e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190862

SMART Domains

Protein: ENSMUSP00000139599
Gene: ENSMUSG00000017146

Domain	Start	End	E-Value	Type
SCOP:d1jm7a_	1	56	1e-6	SMART
PDB:1JM7\|A	1	63	1e-30	PDB

Coding Region Coverage

1x: 97.5%
3x: 97.1%
10x: 95.9%
20x: 94.1%

Validation Efficiency

99% (104/105)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430O22Rik	T	C	5: 115,574,234 (GRCm39)		probably benign	Het
A630010A05Rik	C	A	16: 14,436,447 (GRCm39)	L167I	possibly damaging	Het
Abca14	A	T	7: 119,815,405 (GRCm39)	M218L	possibly damaging	Het
Abca15	C	A	7: 119,939,761 (GRCm39)		probably null	Het
Acod1	T	C	14: 103,292,003 (GRCm39)	F176L	probably benign	Het
Actr5	A	G	2: 158,480,617 (GRCm39)	H545R	probably benign	Het
Adcy1	A	G	11: 7,088,396 (GRCm39)	T472A	probably damaging	Het
Aldh1l1	A	G	6: 90,548,910 (GRCm39)	K469R	possibly damaging	Het
Ambra1	A	T	2: 91,716,048 (GRCm39)	Q853L	probably damaging	Het
Apol7e	G	T	15: 77,601,966 (GRCm39)	G188V	probably damaging	Het
Atg7	T	A	6: 114,835,943 (GRCm39)		probably benign	Het
AU018091	A	T	7: 3,214,089 (GRCm39)	W43R	probably benign	Het
Baat	A	G	4: 49,503,101 (GRCm39)	V7A	probably benign	Het
Bcas1	C	A	2: 170,229,852 (GRCm39)	Q249H	possibly damaging	Het
Bltp1	T	A	3: 37,090,094 (GRCm39)	V676D	probably damaging	Het
Bptf	G	T	11: 106,945,881 (GRCm39)	Q2453K	possibly damaging	Het
Btg3	A	G	16: 78,161,688 (GRCm39)		probably null	Het
CAAA01180111.1	C	A	9: 124,058,093 (GRCm39)	V9L	possibly damaging	Het
Cacna2d3	T	C	14: 29,055,736 (GRCm39)	N298S	possibly damaging	Het
Carf	G	A	1: 60,167,152 (GRCm39)	V127I	possibly damaging	Het
Catsperg1	T	C	7: 28,884,433 (GRCm39)	S916G	probably damaging	Het
Cers1	T	C	8: 70,775,819 (GRCm39)	S274P	possibly damaging	Het
Ces4a	T	A	8: 105,864,667 (GRCm39)	V48E	possibly damaging	Het
Cfap54	T	A	10: 92,805,625 (GRCm39)	H1495L	probably benign	Het
Clec4e	G	A	6: 123,262,420 (GRCm39)		probably benign	Het
Cntnap5a	T	A	1: 115,612,898 (GRCm39)	L11*	probably null	Het
Cr2	C	T	1: 194,839,817 (GRCm39)	G913R	probably damaging	Het
Cul9	A	G	17: 46,836,299 (GRCm39)	L1155P	probably damaging	Het
D130052B06Rik	C	T	11: 33,573,622 (GRCm39)		probably benign	Het
Dlec1	G	A	9: 118,957,071 (GRCm39)		probably benign	Het
Dlec1	A	T	9: 118,971,646 (GRCm39)	D1278V	probably damaging	Het
Dmrt2	A	G	19: 25,650,970 (GRCm39)	E52G	possibly damaging	Het
Dsp	A	G	13: 38,376,688 (GRCm39)	K1491R	probably benign	Het
Ecpas	A	G	4: 58,832,753 (GRCm39)	V869A	probably benign	Het
Eef1d	A	T	15: 75,767,770 (GRCm39)	D206E	probably damaging	Het
Erbb2	C	T	11: 98,327,001 (GRCm39)	Q1137*	probably null	Het
Ercc2	T	A	7: 19,119,811 (GRCm39)	D157E	probably benign	Het
Eri1	A	G	8: 35,936,284 (GRCm39)	*346Q	probably null	Het
Espl1	A	G	15: 102,228,293 (GRCm39)	E1689G	probably benign	Het
Fap	C	T	2: 62,347,964 (GRCm39)	V539I	probably benign	Het
Fasn	A	G	11: 120,701,866 (GRCm39)	F1871S	probably benign	Het
Gabpb1	T	G	2: 126,494,247 (GRCm39)	Y126S	probably damaging	Het
Ganc	A	T	2: 120,261,409 (GRCm39)		probably benign	Het
Gm9839	T	A	1: 32,559,594 (GRCm39)	R163*	probably null	Het
Grm1	T	C	10: 10,595,702 (GRCm39)	Y642C	probably damaging	Het
Heatr4	T	C	12: 84,024,841 (GRCm39)	T327A	possibly damaging	Het
Hmbox1	T	C	14: 65,099,027 (GRCm39)	D212G	possibly damaging	Het
Hmcn1	T	A	1: 150,565,341 (GRCm39)	D2262V	probably damaging	Het
Hoxb9	A	G	11: 96,162,764 (GRCm39)	T133A	probably benign	Het
Insr	A	T	8: 3,219,720 (GRCm39)	V934E	probably damaging	Het
Ipo9	T	C	1: 135,334,281 (GRCm39)	E315G	possibly damaging	Het
Itga10	C	T	3: 96,559,545 (GRCm39)	Q481*	probably null	Het
Kifap3	T	C	1: 163,656,689 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,925,047 (GRCm39)	M1120K	probably benign	Het
Krt78	A	G	15: 101,854,728 (GRCm39)	Y1028H	possibly damaging	Het
Lrp1b	A	T	2: 40,547,368 (GRCm39)		probably benign	Het
Lrrc38	A	T	4: 143,096,450 (GRCm39)	I254F	probably damaging	Het
Lyrm7	A	G	11: 54,741,215 (GRCm39)	F40L	probably damaging	Het
Mfsd4b1	C	T	10: 39,878,631 (GRCm39)	S422N	possibly damaging	Het
Mlh3	A	T	12: 85,284,374 (GRCm39)	L1380*	probably null	Het
Mrpl24	C	A	3: 87,829,744 (GRCm39)	A110D	probably benign	Het
Mrps14	T	C	1: 160,024,520 (GRCm39)	V17A	probably benign	Het
Mtcl1	T	C	17: 66,755,322 (GRCm39)	D340G	probably damaging	Het
Nalcn	T	C	14: 123,702,068 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,120,059 (GRCm39)	Y3900C	probably damaging	Het
Neurod4	T	C	10: 130,106,473 (GRCm39)	D267G	probably benign	Het
Nf1	A	T	11: 79,319,452 (GRCm39)	I536F	possibly damaging	Het
Nkg7	C	T	7: 43,086,857 (GRCm39)	P44S	probably damaging	Het
Or14c40	T	C	7: 86,313,185 (GRCm39)	V105A	possibly damaging	Het
Or4a67	T	C	2: 88,597,832 (GRCm39)	I276V	probably benign	Het
P3h2	A	T	16: 25,784,618 (GRCm39)		probably benign	Het
P4ha2	A	G	11: 53,997,236 (GRCm39)		probably benign	Het
Pcif1	T	C	2: 164,731,058 (GRCm39)	Y404H	probably benign	Het
Pcnx2	A	T	8: 126,480,289 (GRCm39)	L2006Q	possibly damaging	Het
Pcnx3	A	T	19: 5,724,922 (GRCm39)	S821T	possibly damaging	Het
Pde8b	T	A	13: 95,170,680 (GRCm39)	D662V	probably damaging	Het
Pkd1l3	C	T	8: 110,343,000 (GRCm39)	P113S	unknown	Het
Pkd2l1	G	T	19: 44,142,648 (GRCm39)	Q465K	possibly damaging	Het
Plch2	G	T	4: 155,068,189 (GRCm39)	P1479Q	probably benign	Het
Plekhm3	A	T	1: 64,932,041 (GRCm39)	I521N	probably damaging	Het
Pola2	A	T	19: 5,992,093 (GRCm39)	Y526*	probably null	Het
Prdm14	C	A	1: 13,194,756 (GRCm39)		probably benign	Het
Prss23	T	C	7: 89,159,217 (GRCm39)	D284G	probably damaging	Het
Psme2b	A	G	11: 48,836,467 (GRCm39)	F160S	probably damaging	Het
Rap1gap2	A	G	11: 74,327,853 (GRCm39)	V139A	possibly damaging	Het
Rbbp9	G	T	2: 144,385,777 (GRCm39)	R163S	possibly damaging	Het
Rdh12	T	C	12: 79,260,522 (GRCm39)	L206P	probably damaging	Het
Rhou	T	C	8: 124,388,029 (GRCm39)	W254R	possibly damaging	Het
Ryr3	G	T	2: 112,583,347 (GRCm39)		probably benign	Het
Scfd1	A	G	12: 51,478,281 (GRCm39)	K498E	possibly damaging	Het
Scn7a	A	G	2: 66,519,902 (GRCm39)	Y1001H	probably benign	Het
Setx	T	A	2: 29,048,917 (GRCm39)	V1981E	probably damaging	Het
Sfxn1	T	C	13: 54,247,890 (GRCm39)	I205T	possibly damaging	Het
Shld2	G	T	14: 33,990,619 (GRCm39)	H96N	possibly damaging	Het
Slc5a2	T	C	7: 127,870,428 (GRCm39)		probably benign	Het
Speer1g	C	T	5: 11,180,337 (GRCm39)	H82Y	probably damaging	Het
Spock1	G	A	13: 57,577,182 (GRCm39)	R416C	possibly damaging	Het
Spred2	A	G	11: 19,968,109 (GRCm39)	I222V	probably benign	Het
Stkld1	A	T	2: 26,839,407 (GRCm39)	T358S	probably benign	Het
Strip1	T	C	3: 107,534,724 (GRCm39)	E102G	possibly damaging	Het
Tars3	T	C	7: 65,305,444 (GRCm39)	S223P	probably damaging	Het
Tdpoz1	T	A	3: 93,578,637 (GRCm39)	E49V	probably benign	Het
Tert	A	G	13: 73,776,328 (GRCm39)	T360A	probably benign	Het
Tspear	A	G	10: 77,717,026 (GRCm39)	Y567C	probably damaging	Het
Ttc28	A	G	5: 111,433,254 (GRCm39)	Q2096R	probably benign	Het
Ttll5	A	G	12: 85,965,736 (GRCm39)		probably null	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vmn2r111	T	A	17: 22,790,028 (GRCm39)	H326L	probably damaging	Het
Vmn2r18	A	G	5: 151,510,301 (GRCm39)	F24S	possibly damaging	Het
Vmn2r82	A	T	10: 79,232,133 (GRCm39)	I711F	probably benign	Het
Vwa8	C	T	14: 79,341,134 (GRCm39)	Q1537*	probably null	Het
Wdr64	G	A	1: 175,603,288 (GRCm39)	V630I	probably benign	Het
Wnt6	G	T	1: 74,821,434 (GRCm39)	W84L	probably damaging	Het
Zfp11	C	A	5: 129,735,254 (GRCm39)	R69L	probably benign	Het

Other mutations in Brca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Brca1	APN	11	101,415,195 (GRCm39)	missense	possibly damaging	0.71
IGL01598:Brca1	APN	11	101,415,156 (GRCm39)	missense	probably benign	0.04
IGL01744:Brca1	APN	11	101,415,002 (GRCm39)	missense	possibly damaging	0.73
IGL02128:Brca1	APN	11	101,421,808 (GRCm39)	unclassified	probably benign
IGL02377:Brca1	APN	11	101,415,149 (GRCm39)	missense	probably benign	0.01
IGL02701:Brca1	APN	11	101,416,061 (GRCm39)	missense	probably damaging	1.00
IGL02732:Brca1	APN	11	101,383,045 (GRCm39)	missense	probably benign	0.07
IGL02935:Brca1	APN	11	101,380,693 (GRCm39)	missense	probably benign	0.00
IGL02940:Brca1	APN	11	101,380,738 (GRCm39)	missense	probably benign	0.00
IGL03198:Brca1	APN	11	101,403,537 (GRCm39)	splice site	probably benign
BB002:Brca1	UTSW	11	101,398,972 (GRCm39)	missense	probably benign	0.01
BB009:Brca1	UTSW	11	101,430,843 (GRCm39)	missense	possibly damaging	0.85
BB012:Brca1	UTSW	11	101,398,972 (GRCm39)	missense	probably benign	0.01
BB019:Brca1	UTSW	11	101,430,843 (GRCm39)	missense	possibly damaging	0.85
PIT4142001:Brca1	UTSW	11	101,413,248 (GRCm39)	unclassified	probably benign
R0048:Brca1	UTSW	11	101,415,803 (GRCm39)	missense	possibly damaging	0.94
R0048:Brca1	UTSW	11	101,415,803 (GRCm39)	missense	possibly damaging	0.94
R0109:Brca1	UTSW	11	101,421,916 (GRCm39)	missense	possibly damaging	0.85
R0109:Brca1	UTSW	11	101,421,916 (GRCm39)	missense	possibly damaging	0.85
R0144:Brca1	UTSW	11	101,416,947 (GRCm39)	missense	probably damaging	1.00
R0336:Brca1	UTSW	11	101,414,819 (GRCm39)	missense	probably benign	0.04
R0448:Brca1	UTSW	11	101,399,047 (GRCm39)	missense	possibly damaging	0.93
R0595:Brca1	UTSW	11	101,415,713 (GRCm39)	missense	probably benign	0.27
R0613:Brca1	UTSW	11	101,399,036 (GRCm39)	missense	probably benign	0.18
R0863:Brca1	UTSW	11	101,415,596 (GRCm39)	missense	probably benign	0.36
R0940:Brca1	UTSW	11	101,422,969 (GRCm39)	missense	possibly damaging	0.73
R0962:Brca1	UTSW	11	101,416,192 (GRCm39)	missense	possibly damaging	0.46
R1365:Brca1	UTSW	11	101,392,822 (GRCm39)	missense	probably benign
R1391:Brca1	UTSW	11	101,417,372 (GRCm39)	missense	possibly damaging	0.53
R1484:Brca1	UTSW	11	101,420,638 (GRCm39)	missense	possibly damaging	0.86
R1530:Brca1	UTSW	11	101,415,521 (GRCm39)	missense	probably damaging	1.00
R1645:Brca1	UTSW	11	101,400,879 (GRCm39)	missense	probably benign	0.00
R1682:Brca1	UTSW	11	101,416,391 (GRCm39)	missense	probably damaging	0.98
R1687:Brca1	UTSW	11	101,380,666 (GRCm39)	missense	probably benign
R1694:Brca1	UTSW	11	101,422,925 (GRCm39)	missense	probably damaging	0.98
R1695:Brca1	UTSW	11	101,415,281 (GRCm39)	missense	probably damaging	0.97
R1762:Brca1	UTSW	11	101,422,844 (GRCm39)	critical splice donor site	probably null
R1868:Brca1	UTSW	11	101,388,839 (GRCm39)	missense	probably benign
R1973:Brca1	UTSW	11	101,417,229 (GRCm39)	missense	probably benign	0.22
R2034:Brca1	UTSW	11	101,380,675 (GRCm39)	missense	probably benign
R2106:Brca1	UTSW	11	101,415,803 (GRCm39)	missense	possibly damaging	0.94
R4089:Brca1	UTSW	11	101,415,002 (GRCm39)	missense	possibly damaging	0.73
R4194:Brca1	UTSW	11	101,416,113 (GRCm39)	missense	probably benign	0.02
R4571:Brca1	UTSW	11	101,408,192 (GRCm39)	missense	probably benign	0.00
R4735:Brca1	UTSW	11	101,383,001 (GRCm39)	splice site	probably null
R4789:Brca1	UTSW	11	101,414,758 (GRCm39)	missense	probably benign	0.00
R4920:Brca1	UTSW	11	101,415,785 (GRCm39)	missense	probably damaging	1.00
R4939:Brca1	UTSW	11	101,398,876 (GRCm39)	missense	probably benign
R4997:Brca1	UTSW	11	101,415,159 (GRCm39)	missense	probably damaging	0.96
R5458:Brca1	UTSW	11	101,408,111 (GRCm39)	missense	possibly damaging	0.53
R5778:Brca1	UTSW	11	101,416,127 (GRCm39)	missense	possibly damaging	0.47
R6051:Brca1	UTSW	11	101,415,072 (GRCm39)	missense	probably damaging	1.00
R6505:Brca1	UTSW	11	101,414,367 (GRCm39)	missense	probably benign	0.03
R6548:Brca1	UTSW	11	101,415,591 (GRCm39)	missense	probably damaging	1.00
R6971:Brca1	UTSW	11	101,424,831 (GRCm39)	missense	probably benign	0.18
R7091:Brca1	UTSW	11	101,417,253 (GRCm39)	missense	probably benign	0.00
R7246:Brca1	UTSW	11	101,414,204 (GRCm39)	missense	probably benign	0.00
R7417:Brca1	UTSW	11	101,415,807 (GRCm39)	missense	probably damaging	1.00
R7861:Brca1	UTSW	11	101,417,248 (GRCm39)	missense	possibly damaging	0.87
R7925:Brca1	UTSW	11	101,398,972 (GRCm39)	missense	probably benign	0.01
R7932:Brca1	UTSW	11	101,430,843 (GRCm39)	missense	possibly damaging	0.85
R8003:Brca1	UTSW	11	101,415,303 (GRCm39)	missense	probably benign	0.22
R8046:Brca1	UTSW	11	101,416,296 (GRCm39)	missense	probably benign	0.03
R8306:Brca1	UTSW	11	101,416,463 (GRCm39)	missense	probably damaging	1.00
R8483:Brca1	UTSW	11	101,416,802 (GRCm39)	missense	probably damaging	0.99
R8685:Brca1	UTSW	11	101,380,672 (GRCm39)	missense	probably benign	0.19
R9072:Brca1	UTSW	11	101,393,306 (GRCm39)	critical splice donor site	probably null
R9073:Brca1	UTSW	11	101,393,306 (GRCm39)	critical splice donor site	probably null
R9486:Brca1	UTSW	11	101,414,520 (GRCm39)	missense	probably benign	0.00
R9505:Brca1	UTSW	11	101,403,592 (GRCm39)	missense	probably benign	0.00
R9616:Brca1	UTSW	11	101,416,683 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-05-23