Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02128:Brca1'

280959

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brca1

Ensembl Gene

ENSMUSG00000017146

Gene Name

breast cancer 1, early onset

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02128

Quality Score

Status

Chromosome

Chromosomal Location

101379590-101442781 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 101421808 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

Validation Efficiency

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad1	A	T	19: 32,664,727 (GRCm39)		probably benign	Het
Bard1	T	C	1: 71,114,387 (GRCm39)	K198R	possibly damaging	Het
Col6a5	T	C	9: 105,817,093 (GRCm39)	E406G	unknown	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cxcr2	A	G	1: 74,198,153 (GRCm39)	T216A	probably benign	Het
Dnah7a	C	T	1: 53,476,672 (GRCm39)	S3424N	probably damaging	Het
Golgb1	T	G	16: 36,736,666 (GRCm39)	L1971R	probably damaging	Het
Hspg2	T	G	4: 137,291,327 (GRCm39)	C3892W	probably damaging	Het
Jmjd1c	T	C	10: 67,079,648 (GRCm39)	L2214P	probably damaging	Het
Klkb1	A	T	8: 45,740,068 (GRCm39)	F75I	probably damaging	Het
Loxl3	T	A	6: 83,027,564 (GRCm39)	V702E	probably damaging	Het
Pcdh18	T	A	3: 49,711,135 (GRCm39)	N60I	possibly damaging	Het
Pex5	A	T	6: 124,375,419 (GRCm39)	N534K	probably damaging	Het
Ppp1r16a	T	A	15: 76,578,178 (GRCm39)	L383Q	probably benign	Het
Rp1	A	G	1: 4,417,608 (GRCm39)	V1168A	probably damaging	Het
Scpppq1	A	G	5: 104,222,569 (GRCm39)		probably null	Het
Slc2a2	A	G	3: 28,773,550 (GRCm39)	E285G	probably damaging	Het
Stab1	T	A	14: 30,872,398 (GRCm39)	N1171I	probably damaging	Het
Vcl	A	G	14: 21,070,645 (GRCm39)	I744V	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
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
R1467:Brca1	UTSW	11	101,421,933 (GRCm39)	unclassified	probably benign
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

Posted On

2015-04-16