Incidental Mutation 'R9072:Brca1'
| ID |
689618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| MMRRC Submission |
068894-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 101393306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
|
| AlphaFold |
P48754 |
| Predicted Effect |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,921,374 (GRCm39) |
Y190* |
probably null |
Het |
| Agbl3 |
T |
C |
6: 34,776,387 (GRCm39) |
C298R |
probably damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,500,350 (GRCm39) |
K1040N |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,576,243 (GRCm39) |
T93S |
probably benign |
Het |
| Apoc3 |
T |
A |
9: 46,144,532 (GRCm39) |
I97F |
probably benign |
Het |
| Arid5a |
A |
G |
1: 36,358,626 (GRCm39) |
E401G |
probably benign |
Het |
| Atxn3 |
T |
C |
12: 101,903,730 (GRCm39) |
|
probably null |
Het |
| C1ql3 |
T |
A |
2: 13,015,198 (GRCm39) |
N154I |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,875 (GRCm39) |
M589L |
probably benign |
Het |
| Ccnb2 |
A |
T |
9: 70,318,095 (GRCm39) |
F226I |
possibly damaging |
Het |
| Commd8 |
TTGTCATCT |
TT |
5: 72,318,327 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
C |
14: 99,332,647 (GRCm39) |
T262A |
probably benign |
Het |
| Eif4a2 |
G |
A |
16: 22,929,403 (GRCm39) |
R234Q |
probably benign |
Het |
| Ephx2 |
G |
A |
14: 66,323,688 (GRCm39) |
R481* |
probably null |
Het |
| Fbxo15 |
T |
C |
18: 84,983,645 (GRCm39) |
I331T |
possibly damaging |
Het |
| Gfra2 |
A |
G |
14: 71,138,935 (GRCm39) |
E121G |
possibly damaging |
Het |
| Git1 |
G |
A |
11: 77,389,901 (GRCm39) |
A55T |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,046,146 (GRCm39) |
I553V |
probably benign |
Het |
| Hydin |
G |
A |
8: 110,994,083 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,016,773 (GRCm39) |
N1085S |
|
Het |
| Kbtbd12 |
T |
C |
6: 88,595,422 (GRCm39) |
Y136C |
probably damaging |
Het |
| Kcng3 |
A |
G |
17: 83,938,423 (GRCm39) |
Y209H |
possibly damaging |
Het |
| Kcnj2 |
A |
T |
11: 110,962,664 (GRCm39) |
M19L |
possibly damaging |
Het |
| Lonrf2 |
A |
T |
1: 38,850,867 (GRCm39) |
F232I |
probably damaging |
Het |
| Lrrc31 |
T |
C |
3: 30,753,859 (GRCm39) |
D14G |
probably benign |
Het |
| Ly6l |
G |
A |
15: 75,321,585 (GRCm39) |
V62I |
possibly damaging |
Het |
| Marchf8 |
T |
C |
6: 116,378,884 (GRCm39) |
F273L |
probably benign |
Het |
| Masp1 |
A |
C |
16: 23,288,671 (GRCm39) |
S710A |
probably benign |
Het |
| Mcm10 |
G |
A |
2: 5,013,414 (GRCm39) |
R73C |
possibly damaging |
Het |
| Mcm5 |
G |
A |
8: 75,852,934 (GRCm39) |
R682H |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,499,207 (GRCm39) |
T684I |
possibly damaging |
Het |
| Mocos |
A |
T |
18: 24,797,089 (GRCm39) |
Q83L |
probably damaging |
Het |
| Nags |
T |
C |
11: 102,038,347 (GRCm39) |
L351P |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,532,863 (GRCm39) |
T1299I |
possibly damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,459,870 (GRCm39) |
D824G |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,422,046 (GRCm39) |
M1031L |
probably benign |
Het |
| Or11g27 |
C |
T |
14: 50,771,211 (GRCm39) |
T114I |
probably benign |
Het |
| Or4c101 |
A |
C |
2: 88,390,658 (GRCm39) |
I271L |
probably benign |
Het |
| Or4k40 |
A |
T |
2: 111,250,705 (GRCm39) |
I197N |
possibly damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Or5b112 |
A |
G |
19: 13,319,238 (GRCm39) |
T39A |
possibly damaging |
Het |
| Or5d37 |
T |
A |
2: 87,924,172 (GRCm39) |
Q36L |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,151,050 (GRCm39) |
M807T |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,047,951 (GRCm39) |
I222N |
probably damaging |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Pou1f1 |
T |
C |
16: 65,328,833 (GRCm39) |
L186P |
|
Het |
| Ppargc1b |
G |
A |
18: 61,443,730 (GRCm39) |
R494W |
probably damaging |
Het |
| Prg4 |
G |
T |
1: 150,331,288 (GRCm39) |
P462T |
unknown |
Het |
| Ptcd1 |
T |
A |
5: 145,091,525 (GRCm39) |
I525L |
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,480,172 (GRCm39) |
F693S |
probably damaging |
Het |
| Ribc2 |
A |
C |
15: 85,022,163 (GRCm39) |
Q186P |
probably damaging |
Het |
| Sesn2 |
C |
A |
4: 132,224,195 (GRCm39) |
|
probably null |
Het |
| Sgf29 |
G |
A |
7: 126,271,826 (GRCm39) |
V284M |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,856,750 (GRCm39) |
|
probably null |
Het |
| Smap1 |
T |
A |
1: 23,961,154 (GRCm39) |
E28V |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,617,200 (GRCm39) |
N538D |
probably benign |
Het |
| Spen |
T |
C |
4: 141,203,702 (GRCm39) |
T1642A |
unknown |
Het |
| Spred3 |
G |
A |
7: 28,865,955 (GRCm39) |
R115* |
probably null |
Het |
| Sugt1 |
T |
A |
14: 79,866,293 (GRCm39) |
M304K |
possibly damaging |
Het |
| Sval1 |
T |
C |
6: 41,928,606 (GRCm39) |
I6T |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,097,500 (GRCm39) |
I1574T |
probably benign |
Het |
| Tinag |
T |
A |
9: 76,904,300 (GRCm39) |
|
probably null |
Het |
| Trak1 |
T |
C |
9: 121,289,554 (GRCm39) |
L622P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,586,218 (GRCm39) |
D21838N |
probably damaging |
Het |
| Ttn |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG |
2: 76,746,150 (GRCm39) |
|
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn1r73 |
C |
T |
7: 11,490,203 (GRCm39) |
A7V |
probably benign |
Het |
| Yy1 |
G |
T |
12: 108,759,921 (GRCm39) |
G195C |
probably benign |
Het |
| Zbtb17 |
T |
A |
4: 141,193,676 (GRCm39) |
C607S |
possibly damaging |
Het |
| Zfp735 |
T |
C |
11: 73,603,060 (GRCm39) |
V668A |
probably benign |
Het |
| Zfp819 |
C |
A |
7: 43,266,570 (GRCm39) |
T351K |
probably damaging |
Het |
| Zfp820 |
C |
A |
17: 22,039,031 (GRCm39) |
S99I |
possibly damaging |
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 |
|
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 |
PCR Primer
(F):5'- CAGTGGATCTGAACAAAGCGAC -3'
(R):5'- ACACCTGGTTGTCTGTCATC -3'
Sequencing Primer
(F):5'- CACGCACCTAGAGACAAAGCTAG -3'
(R):5'- TCTGTCATCAGAGGTGAATCACC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation