Incidental Mutation 'R9616:Brca1'
ID |
724604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9616 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101416683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 484
(E484K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000191198]
|
AlphaFold |
P48754 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017290
AA Change: E484K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: E484K
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: ENSMUST00000191198
|
SMART Domains |
Protein: ENSMUSP00000139737 Gene: ENSMUSG00000017146
Domain | Start | End | E-Value | Type |
Pfam:EIN3
|
1 |
146 |
3.5e-18 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110040M04Rik |
T |
A |
1: 151,080,480 (GRCm39) |
D189E |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,240,501 (GRCm39) |
H788L |
probably benign |
Het |
Abcb1b |
A |
G |
5: 8,862,779 (GRCm39) |
I154V |
probably benign |
Het |
Acsm4 |
A |
G |
7: 119,293,872 (GRCm39) |
N81S |
probably benign |
Het |
Adamts5 |
G |
A |
16: 85,659,674 (GRCm39) |
H873Y |
probably benign |
Het |
Aox4 |
C |
T |
1: 58,268,020 (GRCm39) |
T200I |
possibly damaging |
Het |
Arhgap33 |
A |
G |
7: 30,229,367 (GRCm39) |
V336A |
probably damaging |
Het |
Capn13 |
T |
A |
17: 73,672,964 (GRCm39) |
D113V |
probably benign |
Het |
Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
G |
A |
7: 16,892,078 (GRCm39) |
E274K |
|
Het |
Cfh |
A |
T |
1: 140,030,254 (GRCm39) |
I891K |
probably damaging |
Het |
Cgn |
A |
G |
3: 94,670,332 (GRCm39) |
S1041P |
probably damaging |
Het |
Cldn18 |
T |
C |
9: 99,580,915 (GRCm39) |
D111G |
probably benign |
Het |
Cnp |
G |
A |
11: 100,467,261 (GRCm39) |
R68Q |
probably benign |
Het |
Cntn4 |
T |
A |
6: 106,674,525 (GRCm39) |
C1008* |
probably null |
Het |
Cntnap5a |
T |
C |
1: 116,029,323 (GRCm39) |
I259T |
probably benign |
Het |
Cubn |
A |
G |
2: 13,319,529 (GRCm39) |
I2897T |
probably benign |
Het |
Cyp2c39 |
T |
A |
19: 39,501,648 (GRCm39) |
L67Q |
probably damaging |
Het |
Dclk1 |
G |
A |
3: 55,387,854 (GRCm39) |
C100Y |
probably damaging |
Het |
Ddc |
C |
T |
11: 11,772,288 (GRCm39) |
W349* |
probably null |
Het |
Dennd3 |
A |
G |
15: 73,440,563 (GRCm39) |
E1198G |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,026,400 (GRCm39) |
D826G |
probably null |
Het |
Dpp4 |
T |
C |
2: 62,217,429 (GRCm39) |
Y56C |
probably damaging |
Het |
Etv6 |
A |
G |
6: 134,243,295 (GRCm39) |
D350G |
possibly damaging |
Het |
Fat1 |
C |
A |
8: 45,406,075 (GRCm39) |
P942Q |
probably damaging |
Het |
Fbxl5 |
A |
G |
5: 43,916,159 (GRCm39) |
F418L |
probably benign |
Het |
Fbxo11 |
T |
A |
17: 88,316,098 (GRCm39) |
H368L |
|
Het |
Fhl2 |
G |
T |
1: 43,167,546 (GRCm39) |
H182Q |
probably damaging |
Het |
Gabpa |
T |
A |
16: 84,649,461 (GRCm39) |
C223S |
probably damaging |
Het |
Gigyf2 |
T |
C |
1: 87,356,326 (GRCm39) |
I803T |
unknown |
Het |
Greb1 |
A |
T |
12: 16,790,038 (GRCm39) |
N3K |
probably damaging |
Het |
Hmcn1 |
T |
G |
1: 150,684,473 (GRCm39) |
S366R |
probably benign |
Het |
Il17b |
A |
G |
18: 61,825,363 (GRCm39) |
Q133R |
probably benign |
Het |
Inha |
T |
A |
1: 75,486,211 (GRCm39) |
S169T |
probably benign |
Het |
Itsn1 |
G |
A |
16: 91,650,055 (GRCm39) |
R243H |
probably benign |
Het |
Kcnu1 |
G |
GA |
8: 26,403,675 (GRCm39) |
|
probably null |
Het |
Kdm1b |
A |
G |
13: 47,234,030 (GRCm39) |
E788G |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,370,308 (GRCm39) |
I1059N |
probably damaging |
Het |
Klk1b9 |
G |
T |
7: 43,628,795 (GRCm39) |
G100C |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,899,994 (GRCm39) |
V565A |
probably benign |
Het |
Knl1 |
A |
T |
2: 118,907,425 (GRCm39) |
N1650Y |
probably damaging |
Het |
Lpp |
T |
C |
16: 24,580,719 (GRCm39) |
V270A |
probably benign |
Het |
Lrrc15 |
A |
G |
16: 30,092,517 (GRCm39) |
L274P |
probably damaging |
Het |
Mertk |
C |
T |
2: 128,643,255 (GRCm39) |
L885F |
probably benign |
Het |
Mpst |
T |
A |
15: 78,294,361 (GRCm39) |
L31* |
probably null |
Het |
Ms4a10 |
T |
C |
19: 10,944,440 (GRCm39) |
T115A |
possibly damaging |
Het |
Myof |
A |
G |
19: 37,923,263 (GRCm39) |
I1330T |
possibly damaging |
Het |
Ncam2 |
T |
C |
16: 81,240,142 (GRCm39) |
I201T |
probably damaging |
Het |
Nefh |
T |
A |
11: 4,889,443 (GRCm39) |
K1059* |
probably null |
Het |
Nek1 |
T |
C |
8: 61,473,107 (GRCm39) |
Y168H |
probably damaging |
Het |
Nek11 |
T |
A |
9: 105,082,011 (GRCm39) |
T531S |
probably damaging |
Het |
Nelfa |
G |
A |
5: 34,059,127 (GRCm39) |
P243S |
possibly damaging |
Het |
Niban1 |
T |
C |
1: 151,512,193 (GRCm39) |
Y32H |
probably damaging |
Het |
Notum |
G |
T |
11: 120,550,974 (GRCm39) |
T64K |
|
Het |
Or13c7d |
T |
A |
4: 43,770,193 (GRCm39) |
K273* |
probably null |
Het |
Or52b2 |
A |
C |
7: 104,986,520 (GRCm39) |
Y134* |
probably null |
Het |
Or9i16 |
A |
G |
19: 13,864,861 (GRCm39) |
S238P |
probably damaging |
Het |
Otof |
A |
G |
5: 30,539,708 (GRCm39) |
I1035T |
possibly damaging |
Het |
Otud3 |
A |
G |
4: 138,624,925 (GRCm39) |
Y259H |
probably benign |
Het |
Per1 |
G |
T |
11: 68,993,554 (GRCm39) |
C368F |
probably damaging |
Het |
Pitrm1 |
G |
T |
13: 6,605,602 (GRCm39) |
R183L |
probably damaging |
Het |
Prl3a1 |
C |
T |
13: 27,459,118 (GRCm39) |
A119V |
|
Het |
Pycard |
C |
T |
7: 127,592,776 (GRCm39) |
G17E |
probably benign |
Het |
Rnf13 |
A |
G |
3: 57,740,430 (GRCm39) |
D249G |
possibly damaging |
Het |
Sdhaf2 |
T |
C |
19: 10,494,689 (GRCm39) |
Y33C |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,691,061 (GRCm39) |
V1838A |
probably benign |
Het |
Sgo2b |
C |
T |
8: 64,380,274 (GRCm39) |
V853I |
probably benign |
Het |
Slc1a4 |
T |
C |
11: 20,282,403 (GRCm39) |
T24A |
probably benign |
Het |
Slc8a1 |
T |
C |
17: 81,955,407 (GRCm39) |
T544A |
probably benign |
Het |
Sntg2 |
T |
C |
12: 30,326,732 (GRCm39) |
N143S |
probably benign |
Het |
Sphkap |
T |
C |
1: 83,254,989 (GRCm39) |
E920G |
probably damaging |
Het |
Srgap2 |
T |
A |
1: 131,252,828 (GRCm39) |
H132L |
|
Het |
Srgap3 |
A |
T |
6: 112,748,524 (GRCm39) |
V376D |
probably damaging |
Het |
Stxbp5l |
T |
C |
16: 37,036,314 (GRCm39) |
K434E |
probably damaging |
Het |
Tab2 |
A |
T |
10: 7,795,005 (GRCm39) |
N492K |
possibly damaging |
Het |
Tbc1d32 |
T |
C |
10: 56,037,246 (GRCm39) |
Q666R |
possibly damaging |
Het |
Tekt4 |
T |
C |
17: 25,692,782 (GRCm39) |
|
probably null |
Het |
Tnni3k |
G |
A |
3: 154,667,724 (GRCm39) |
Q230* |
probably null |
Het |
Trp53bp1 |
A |
C |
2: 121,066,657 (GRCm39) |
S690A |
probably benign |
Het |
Trpa1 |
C |
A |
1: 14,989,077 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
T |
G |
7: 63,858,132 (GRCm39) |
V324G |
probably damaging |
Het |
Usp29 |
A |
G |
7: 6,966,179 (GRCm39) |
E674G |
possibly damaging |
Het |
Vmn2r59 |
T |
C |
7: 41,661,299 (GRCm39) |
R839G |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,445,724 (GRCm39) |
L667P |
probably damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,356,305 (GRCm39) |
F657L |
possibly damaging |
Het |
Vps13d |
A |
G |
4: 144,824,701 (GRCm39) |
V2923A |
|
Het |
Xylb |
T |
A |
9: 119,201,022 (GRCm39) |
L220Q |
probably damaging |
Het |
Zbtb10 |
C |
T |
3: 9,316,473 (GRCm39) |
T95M |
probably benign |
Het |
Zfp263 |
C |
T |
16: 3,567,482 (GRCm39) |
P599L |
probably damaging |
Het |
Zfp532 |
A |
G |
18: 65,789,639 (GRCm39) |
E1026G |
probably benign |
Het |
Zfp78 |
A |
G |
7: 6,382,078 (GRCm39) |
N376S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTAGTACTCACTGCTTGC -3'
(R):5'- GCACGAGTCAAATGCTGAAGC -3'
Sequencing Primer
(F):5'- GCTCATTTGGCTCCATTAGGTCAG -3'
(R):5'- GGGGTTTTAGTTCTTCAAGGAAAAC -3'
|
Posted On |
2022-09-12 |