Incidental Mutation 'R0940:Brca1'
| ID |
81440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca1
|
| Ensembl Gene |
ENSMUSG00000017146 |
| Gene Name |
breast cancer 1, early onset |
| Synonyms |
|
| MMRRC Submission |
039079-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0940 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101488764-101551955 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101532143 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 106
(S106R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000190862]
|
| AlphaFold |
P48754 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017290
AA Change: S106R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000017290
Gene: ENSMUSG00000017146
AA Change: S106R
| 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 |
possibly damaging
Transcript: ENSMUST00000190862
AA Change: S59R
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139599
Gene: ENSMUSG00000017146
AA Change: S59R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jm7a_
|
1 |
56 |
1e-6 |
SMART |
|
PDB:1JM7|A
|
1 |
63 |
1e-30 |
PDB |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
100% (68/68) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810064F22Rik |
C |
T |
9: 22,208,071 (GRCm38) |
|
noncoding transcript |
Het |
| 2610021A01Rik |
T |
G |
7: 41,626,434 (GRCm38) |
I520M |
probably damaging |
Het |
| Ackr4 |
A |
G |
9: 104,099,632 (GRCm38) |
F39L |
probably damaging |
Het |
| Adgre5 |
C |
T |
8: 83,733,497 (GRCm38) |
S92N |
probably damaging |
Het |
| Adrb2 |
T |
C |
18: 62,179,691 (GRCm38) |
D21G |
probably benign |
Het |
| AI464131 |
A |
G |
4: 41,497,996 (GRCm38) |
Y545H |
probably damaging |
Het |
| Akr1c6 |
G |
A |
13: 4,436,373 (GRCm38) |
E60K |
probably benign |
Het |
| Bcl7c |
T |
A |
7: 127,707,331 (GRCm38) |
N96I |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,735,235 (GRCm38) |
T138S |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,322,847 (GRCm38) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,803,243 (GRCm38) |
M3939K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,631,627 (GRCm38) |
|
probably benign |
Het |
| Dsc2 |
T |
G |
18: 20,050,059 (GRCm38) |
T101P |
probably damaging |
Het |
| Dynlt1b |
T |
C |
17: 6,430,250 (GRCm38) |
|
probably benign |
Het |
| E330013P04Rik |
A |
G |
19: 60,161,922 (GRCm38) |
|
noncoding transcript |
Het |
| Fam160a1 |
A |
G |
3: 85,665,490 (GRCm38) |
V952A |
possibly damaging |
Het |
| Fggy |
A |
G |
4: 95,697,001 (GRCm38) |
E39G |
probably benign |
Het |
| Fmo6 |
A |
T |
1: 162,926,226 (GRCm38) |
C116S |
probably benign |
Het |
| Gadd45a |
A |
G |
6: 67,036,829 (GRCm38) |
I44T |
possibly damaging |
Het |
| Gmps |
A |
G |
3: 63,976,322 (GRCm38) |
|
probably benign |
Het |
| Gnmt |
A |
G |
17: 46,726,345 (GRCm38) |
L171P |
probably damaging |
Het |
| Hnrnpm |
G |
A |
17: 33,650,002 (GRCm38) |
R523C |
probably damaging |
Het |
| Inpp5a |
T |
C |
7: 139,525,738 (GRCm38) |
Y202H |
probably damaging |
Het |
| Kank3 |
C |
T |
17: 33,817,476 (GRCm38) |
S106F |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,328,697 (GRCm38) |
D253G |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,729,081 (GRCm38) |
I803F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,506,887 (GRCm38) |
K834R |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,262,693 (GRCm38) |
|
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,242,863 (GRCm38) |
N243Y |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,635,895 (GRCm38) |
M759I |
probably benign |
Het |
| Nipal4 |
A |
G |
11: 46,150,312 (GRCm38) |
I352T |
possibly damaging |
Het |
| Nomo1 |
A |
G |
7: 46,033,905 (GRCm38) |
E25G |
possibly damaging |
Het |
| Olfr1221 |
T |
A |
2: 89,112,075 (GRCm38) |
I146L |
probably benign |
Het |
| Olfr128 |
A |
G |
17: 37,923,700 (GRCm38) |
I45V |
probably damaging |
Het |
| Olfr1408 |
A |
G |
1: 173,130,453 (GRCm38) |
S255P |
probably benign |
Het |
| Olfr392 |
T |
C |
11: 73,814,224 (GRCm38) |
N286S |
probably damaging |
Het |
| Olfr490 |
T |
C |
7: 108,287,057 (GRCm38) |
D23G |
probably benign |
Het |
| Olfr525 |
T |
C |
7: 140,323,152 (GRCm38) |
I151T |
probably benign |
Het |
| Pabpn1l |
A |
G |
8: 122,622,444 (GRCm38) |
V78A |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,420,337 (GRCm38) |
I327N |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 141,254,855 (GRCm38) |
|
probably benign |
Het |
| Pkm |
C |
T |
9: 59,668,535 (GRCm38) |
|
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,800,555 (GRCm38) |
V1519I |
probably benign |
Het |
| Ppp2cb |
T |
C |
8: 33,615,661 (GRCm38) |
|
probably null |
Het |
| Prickle2 |
A |
G |
6: 92,411,003 (GRCm38) |
Y473H |
probably benign |
Het |
| Prpf3 |
A |
G |
3: 95,844,223 (GRCm38) |
W389R |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,815,264 (GRCm38) |
E544K |
possibly damaging |
Het |
| Relb |
A |
T |
7: 19,611,842 (GRCm38) |
D395E |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,416,563 (GRCm38) |
N683S |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 181,322,803 (GRCm38) |
C102R |
probably benign |
Het |
| Sel1l3 |
C |
T |
5: 53,144,037 (GRCm38) |
|
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 16,144,962 (GRCm38) |
T458A |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,640,909 (GRCm38) |
M931K |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 45,796,502 (GRCm38) |
V795A |
probably benign |
Het |
| Tgm3 |
A |
G |
2: 130,012,406 (GRCm38) |
S2G |
probably benign |
Het |
| Tpbpa |
T |
C |
13: 60,940,053 (GRCm38) |
T75A |
probably damaging |
Het |
| Trub1 |
A |
G |
19: 57,485,063 (GRCm38) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,091,192 (GRCm38) |
|
probably null |
Het |
| Ugt2a3 |
A |
G |
5: 87,327,206 (GRCm38) |
V393A |
possibly damaging |
Het |
| Vav3 |
T |
A |
3: 109,562,835 (GRCm38) |
M532K |
possibly damaging |
Het |
| Zfp616 |
A |
T |
11: 74,085,024 (GRCm38) |
K706N |
probably damaging |
Het |
| Zkscan1 |
T |
C |
5: 138,093,170 (GRCm38) |
F55S |
probably damaging |
Het |
|
| Other mutations in Brca1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Brca1
|
APN |
11 |
101,524,369 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01598:Brca1
|
APN |
11 |
101,524,330 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01744:Brca1
|
APN |
11 |
101,524,176 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL02128:Brca1
|
APN |
11 |
101,530,982 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02377:Brca1
|
APN |
11 |
101,524,323 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02701:Brca1
|
APN |
11 |
101,525,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02732:Brca1
|
APN |
11 |
101,492,219 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02935:Brca1
|
APN |
11 |
101,489,867 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02940:Brca1
|
APN |
11 |
101,489,912 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03198:Brca1
|
APN |
11 |
101,512,711 (GRCm38) |
splice site |
probably benign |
|
|
BB002:Brca1
|
UTSW |
11 |
101,508,146 (GRCm38) |
missense |
probably benign |
0.01 |
|
BB009:Brca1
|
UTSW |
11 |
101,540,017 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
BB012:Brca1
|
UTSW |
11 |
101,508,146 (GRCm38) |
missense |
probably benign |
0.01 |
|
BB019:Brca1
|
UTSW |
11 |
101,540,017 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
PIT4142001:Brca1
|
UTSW |
11 |
101,522,422 (GRCm38) |
unclassified |
probably benign |
|
|
R0048:Brca1
|
UTSW |
11 |
101,524,977 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0048:Brca1
|
UTSW |
11 |
101,524,977 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0109:Brca1
|
UTSW |
11 |
101,531,090 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0109:Brca1
|
UTSW |
11 |
101,531,090 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0144:Brca1
|
UTSW |
11 |
101,526,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0336:Brca1
|
UTSW |
11 |
101,523,993 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0448:Brca1
|
UTSW |
11 |
101,508,221 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0595:Brca1
|
UTSW |
11 |
101,524,887 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0613:Brca1
|
UTSW |
11 |
101,508,210 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0863:Brca1
|
UTSW |
11 |
101,524,770 (GRCm38) |
missense |
probably benign |
0.36 |
|
R0962:Brca1
|
UTSW |
11 |
101,525,366 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1365:Brca1
|
UTSW |
11 |
101,501,996 (GRCm38) |
missense |
probably benign |
|
|
R1391:Brca1
|
UTSW |
11 |
101,526,546 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1467:Brca1
|
UTSW |
11 |
101,531,107 (GRCm38) |
unclassified |
probably benign |
|
|
R1484:Brca1
|
UTSW |
11 |
101,529,812 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1530:Brca1
|
UTSW |
11 |
101,524,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1645:Brca1
|
UTSW |
11 |
101,510,053 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1682:Brca1
|
UTSW |
11 |
101,525,565 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1687:Brca1
|
UTSW |
11 |
101,489,840 (GRCm38) |
missense |
probably benign |
|
|
R1694:Brca1
|
UTSW |
11 |
101,532,099 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1695:Brca1
|
UTSW |
11 |
101,524,455 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1762:Brca1
|
UTSW |
11 |
101,532,018 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1868:Brca1
|
UTSW |
11 |
101,498,013 (GRCm38) |
missense |
probably benign |
|
|
R1973:Brca1
|
UTSW |
11 |
101,526,403 (GRCm38) |
missense |
probably benign |
0.22 |
|
R2034:Brca1
|
UTSW |
11 |
101,489,849 (GRCm38) |
missense |
probably benign |
|
|
R2106:Brca1
|
UTSW |
11 |
101,524,977 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4089:Brca1
|
UTSW |
11 |
101,524,176 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4194:Brca1
|
UTSW |
11 |
101,525,287 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4571:Brca1
|
UTSW |
11 |
101,517,366 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4735:Brca1
|
UTSW |
11 |
101,492,175 (GRCm38) |
splice site |
probably null |
|
|
R4789:Brca1
|
UTSW |
11 |
101,523,932 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4920:Brca1
|
UTSW |
11 |
101,524,959 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4939:Brca1
|
UTSW |
11 |
101,508,050 (GRCm38) |
missense |
probably benign |
|
|
R4997:Brca1
|
UTSW |
11 |
101,524,333 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5458:Brca1
|
UTSW |
11 |
101,517,285 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5778:Brca1
|
UTSW |
11 |
101,525,301 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R6051:Brca1
|
UTSW |
11 |
101,524,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6505:Brca1
|
UTSW |
11 |
101,523,541 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6548:Brca1
|
UTSW |
11 |
101,524,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6971:Brca1
|
UTSW |
11 |
101,534,005 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7091:Brca1
|
UTSW |
11 |
101,526,427 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7246:Brca1
|
UTSW |
11 |
101,523,378 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7417:Brca1
|
UTSW |
11 |
101,524,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7861:Brca1
|
UTSW |
11 |
101,526,422 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7925:Brca1
|
UTSW |
11 |
101,508,146 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7932:Brca1
|
UTSW |
11 |
101,540,017 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8003:Brca1
|
UTSW |
11 |
101,524,477 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8046:Brca1
|
UTSW |
11 |
101,525,470 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8306:Brca1
|
UTSW |
11 |
101,525,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8483:Brca1
|
UTSW |
11 |
101,525,976 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8685:Brca1
|
UTSW |
11 |
101,489,846 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9072:Brca1
|
UTSW |
11 |
101,502,480 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9073:Brca1
|
UTSW |
11 |
101,502,480 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9486:Brca1
|
UTSW |
11 |
101,523,694 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9505:Brca1
|
UTSW |
11 |
101,512,766 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9616:Brca1
|
UTSW |
11 |
101,525,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGATCACACCAGATCCCCTGAC -3'
(R):5'- ACGTaggcaagcatgatggcag -3'
Sequencing Primer
(F):5'- ACTTATTAGAACACTTGTCCAGCC -3'
(R):5'- aaattccagactaaagaaggctatac -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation