Incidental Mutation 'R1973:Brca1'
ID |
221282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
MMRRC Submission |
039986-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1973 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101379590-101442781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101417229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 302
(C302S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017290]
[ENSMUST00000142086]
[ENSMUST00000191198]
|
AlphaFold |
P48754 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017290
AA Change: C302S
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: C302S
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 |
noncoding transcript
Transcript: ENSMUST00000131460
|
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 |
noncoding transcript
Transcript: ENSMUST00000188168
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
C |
5: 8,862,746 (GRCm39) |
I143L |
probably benign |
Het |
Acp7 |
T |
A |
7: 28,307,414 (GRCm39) |
D481V |
probably damaging |
Het |
AI597479 |
T |
A |
1: 43,150,286 (GRCm39) |
I132K |
probably benign |
Het |
Anxa13 |
T |
C |
15: 58,228,030 (GRCm39) |
|
noncoding transcript |
Het |
Brd8 |
T |
A |
18: 34,741,066 (GRCm39) |
D420V |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,350,603 (GRCm39) |
V414E |
possibly damaging |
Het |
Ccdc142 |
T |
A |
6: 83,079,544 (GRCm39) |
C294S |
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chat |
C |
T |
14: 32,146,148 (GRCm39) |
V342I |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,808,307 (GRCm39) |
S1636P |
probably damaging |
Het |
Clec4a1 |
A |
G |
6: 122,901,793 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,731,897 (GRCm39) |
I1452N |
probably damaging |
Het |
Dennd2c |
T |
C |
3: 103,039,014 (GRCm39) |
V54A |
probably benign |
Het |
Dnah1 |
C |
T |
14: 30,987,348 (GRCm39) |
W3550* |
probably null |
Het |
Efl1 |
T |
C |
7: 82,412,085 (GRCm39) |
S825P |
probably damaging |
Het |
Entrep2 |
A |
T |
7: 64,425,516 (GRCm39) |
I192N |
possibly damaging |
Het |
Faxc |
G |
A |
4: 21,993,405 (GRCm39) |
E350K |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,559,653 (GRCm39) |
Y1618F |
probably benign |
Het |
Fubp3 |
A |
G |
2: 31,493,298 (GRCm39) |
T6A |
probably benign |
Het |
Gm5814 |
A |
T |
17: 47,721,474 (GRCm39) |
M63L |
probably benign |
Het |
Gpr149 |
T |
C |
3: 62,438,216 (GRCm39) |
K647R |
probably benign |
Het |
Iqgap3 |
T |
A |
3: 87,991,235 (GRCm39) |
|
probably null |
Het |
Kcnh3 |
T |
C |
15: 99,127,281 (GRCm39) |
V359A |
probably damaging |
Het |
Kit |
G |
A |
5: 75,776,102 (GRCm39) |
A295T |
probably damaging |
Het |
Krt77 |
G |
T |
15: 101,769,679 (GRCm39) |
A397E |
probably damaging |
Het |
Mis18bp1 |
G |
C |
12: 65,195,850 (GRCm39) |
S638* |
probably null |
Het |
Neurl4 |
C |
T |
11: 69,800,118 (GRCm39) |
P1091S |
probably benign |
Het |
Nod2 |
A |
T |
8: 89,379,501 (GRCm39) |
M8L |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,074,491 (GRCm39) |
T1046A |
possibly damaging |
Het |
Nsfl1c |
G |
T |
2: 151,347,334 (GRCm39) |
S202I |
probably damaging |
Het |
Nuak2 |
A |
T |
1: 132,258,340 (GRCm39) |
H257L |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,590 (GRCm39) |
V1195A |
possibly damaging |
Het |
Or10k2 |
T |
C |
8: 84,268,421 (GRCm39) |
V216A |
probably benign |
Het |
Or2ag12 |
T |
C |
7: 106,277,426 (GRCm39) |
D89G |
probably benign |
Het |
Or52a20 |
T |
A |
7: 103,365,804 (GRCm39) |
M1K |
probably null |
Het |
Or8b40 |
T |
A |
9: 38,027,863 (GRCm39) |
M257K |
possibly damaging |
Het |
Or8g51 |
A |
G |
9: 38,609,164 (GRCm39) |
V170A |
probably damaging |
Het |
Pclo |
G |
T |
5: 14,726,073 (GRCm39) |
|
probably null |
Het |
Pnpla7 |
A |
G |
2: 24,906,629 (GRCm39) |
D664G |
probably damaging |
Het |
Prl8a1 |
G |
A |
13: 27,760,917 (GRCm39) |
T105I |
probably benign |
Het |
Ptger1 |
C |
A |
8: 84,396,083 (GRCm39) |
T380K |
probably benign |
Het |
Ptk7 |
G |
A |
17: 46,897,733 (GRCm39) |
Q282* |
probably null |
Het |
Ptpn18 |
G |
T |
1: 34,502,190 (GRCm39) |
D45Y |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,243,365 (GRCm39) |
D589G |
probably damaging |
Het |
Rara |
A |
G |
11: 98,862,496 (GRCm39) |
N299S |
possibly damaging |
Het |
Rpl13a |
T |
A |
7: 44,775,419 (GRCm39) |
K368* |
probably null |
Het |
Rslcan18 |
T |
C |
13: 67,256,087 (GRCm39) |
|
probably benign |
Het |
Rtel1 |
A |
G |
2: 180,993,419 (GRCm39) |
Y731C |
probably benign |
Het |
Sec16a |
A |
T |
2: 26,316,501 (GRCm39) |
S1666R |
probably damaging |
Het |
Sis |
A |
G |
3: 72,828,337 (GRCm39) |
F1217S |
probably damaging |
Het |
Slc10a7 |
T |
A |
8: 79,423,962 (GRCm39) |
|
probably null |
Het |
Slc22a7 |
A |
G |
17: 46,748,016 (GRCm39) |
V214A |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,882,579 (GRCm39) |
I249V |
probably benign |
Het |
Slc38a4 |
T |
C |
15: 96,897,478 (GRCm39) |
K446E |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,192,795 (GRCm39) |
G361S |
probably damaging |
Het |
Spef2 |
T |
G |
15: 9,663,152 (GRCm39) |
*876C |
probably null |
Het |
Spink11 |
A |
G |
18: 44,329,205 (GRCm39) |
C14R |
unknown |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,880,252 (GRCm39) |
N605S |
probably damaging |
Het |
Trpc1 |
A |
G |
9: 95,605,308 (GRCm39) |
M283T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,544,706 (GRCm39) |
S32799P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,550,443 (GRCm39) |
I31613T |
probably damaging |
Het |
Ugt1a10 |
A |
T |
1: 87,983,769 (GRCm39) |
Y189F |
probably damaging |
Het |
Usp32 |
G |
T |
11: 84,994,757 (GRCm39) |
L52I |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,065,923 (GRCm39) |
T68A |
possibly damaging |
Het |
Vmn1r7 |
A |
G |
6: 57,002,011 (GRCm39) |
F83S |
probably benign |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Vps26c |
T |
C |
16: 94,302,405 (GRCm39) |
N267S |
probably damaging |
Het |
Wdr43 |
A |
G |
17: 71,947,235 (GRCm39) |
N364D |
probably benign |
Het |
Zdbf2 |
C |
A |
1: 63,348,860 (GRCm39) |
P2413Q |
unknown |
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 |
|
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 |
PCR Primer
(F):5'- TCTCAGGGCACAGACTTTGC -3'
(R):5'- GAGTTTTCTGAGGGCATAAGAAAC -3'
Sequencing Primer
(F):5'- CACAGACTTTGCGGGTGAGTC -3'
(R):5'- GCAGTGATGATTTAAACCCTACTGAG -3'
|
Posted On |
2014-08-25 |