Incidental Mutation 'R4789:Brca1'
ID |
367342 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brca1
|
Ensembl Gene |
ENSMUSG00000017146 |
Gene Name |
breast cancer 1, early onset |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4789 (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 C
at 101414758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 1125
(H1125Q)
|
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: H1125Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000017290 Gene: ENSMUSG00000017146 AA Change: H1125Q
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: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
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 |
1110004F10Rik |
C |
A |
7: 115,692,757 (GRCm39) |
D20E |
probably benign |
Het |
Abcb9 |
T |
A |
5: 124,216,853 (GRCm39) |
M455L |
probably benign |
Het |
Add2 |
G |
A |
6: 86,095,752 (GRCm39) |
V475M |
probably benign |
Het |
Apoh |
T |
A |
11: 108,300,064 (GRCm39) |
Y238N |
probably damaging |
Het |
Arpp21 |
A |
G |
9: 111,896,360 (GRCm39) |
S681P |
probably benign |
Het |
Atp1a3 |
A |
C |
7: 24,698,389 (GRCm39) |
F149C |
probably damaging |
Het |
B9d1 |
A |
G |
11: 61,397,186 (GRCm39) |
D27G |
probably benign |
Het |
Bfar |
T |
A |
16: 13,503,001 (GRCm39) |
M1K |
probably null |
Het |
Bok |
T |
C |
1: 93,616,963 (GRCm39) |
V103A |
probably damaging |
Het |
Card9 |
T |
A |
2: 26,247,632 (GRCm39) |
M218L |
probably damaging |
Het |
Cers1 |
T |
C |
8: 70,776,018 (GRCm39) |
V303A |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,814,534 (GRCm39) |
I493V |
unknown |
Het |
Coro7 |
T |
C |
16: 4,446,085 (GRCm39) |
Y880C |
probably damaging |
Het |
Cyp2b19 |
T |
C |
7: 26,463,801 (GRCm39) |
Y318H |
probably benign |
Het |
Dennd3 |
T |
A |
15: 73,394,131 (GRCm39) |
L52Q |
probably damaging |
Het |
Dlat |
A |
T |
9: 50,570,670 (GRCm39) |
C33S |
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,287,099 (GRCm39) |
Q2646L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,610,295 (GRCm39) |
N1703D |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,518,998 (GRCm39) |
H1241L |
probably damaging |
Het |
Fbxl17 |
T |
G |
17: 63,794,910 (GRCm39) |
I391L |
probably benign |
Het |
Fdxacb1 |
A |
G |
9: 50,681,418 (GRCm39) |
D113G |
possibly damaging |
Het |
Flii |
A |
G |
11: 60,605,919 (GRCm39) |
S1185P |
probably benign |
Het |
Gm14496 |
A |
T |
2: 181,637,577 (GRCm39) |
Q217L |
possibly damaging |
Het |
Heatr9 |
A |
T |
11: 83,410,018 (GRCm39) |
D74E |
probably benign |
Het |
Heca |
C |
A |
10: 17,783,895 (GRCm39) |
E91* |
probably null |
Het |
Ikzf4 |
T |
G |
10: 128,468,575 (GRCm39) |
T635P |
probably benign |
Het |
Kif17 |
C |
T |
4: 138,008,688 (GRCm39) |
P382S |
probably damaging |
Het |
Kmt5b |
T |
C |
19: 3,865,330 (GRCm39) |
V775A |
probably benign |
Het |
Mapk8ip2 |
T |
A |
15: 89,343,241 (GRCm39) |
F661Y |
probably damaging |
Het |
Mapkap1 |
A |
G |
2: 34,423,859 (GRCm39) |
E111G |
possibly damaging |
Het |
Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
Mid2 |
T |
A |
X: 139,578,981 (GRCm39) |
Y61N |
probably damaging |
Het |
Mief1 |
T |
A |
15: 80,132,080 (GRCm39) |
Y50* |
probably null |
Het |
Mios |
T |
C |
6: 8,235,429 (GRCm39) |
M859T |
probably benign |
Het |
Muc5ac |
G |
T |
7: 141,352,619 (GRCm39) |
C702F |
possibly damaging |
Het |
Nkiras1 |
T |
C |
14: 18,276,935 (GRCm38) |
|
probably benign |
Het |
Or11i1 |
A |
C |
3: 106,729,608 (GRCm39) |
I89R |
possibly damaging |
Het |
Or11i1 |
T |
A |
3: 106,729,624 (GRCm39) |
M84L |
possibly damaging |
Het |
Or56a3b |
T |
G |
7: 104,771,520 (GRCm39) |
H285Q |
probably null |
Het |
Or5ae2 |
T |
A |
7: 84,506,509 (GRCm39) |
C311S |
probably benign |
Het |
Pcsk5 |
C |
T |
19: 17,410,963 (GRCm39) |
V1810M |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,680,270 (GRCm39) |
V964A |
probably damaging |
Het |
Pgm2l1 |
A |
T |
7: 99,916,794 (GRCm39) |
M471L |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,738,314 (GRCm39) |
T2182A |
probably damaging |
Het |
Plscr1l1 |
G |
A |
9: 92,233,084 (GRCm39) |
C69Y |
probably damaging |
Het |
Polr1b |
T |
A |
2: 128,951,257 (GRCm39) |
I290K |
probably benign |
Het |
Prkg1 |
T |
A |
19: 31,563,045 (GRCm39) |
M119L |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,019,275 (GRCm39) |
V490A |
probably benign |
Het |
Shtn1 |
G |
C |
19: 59,039,305 (GRCm39) |
R45G |
probably damaging |
Het |
Slc10a6 |
T |
A |
5: 103,776,848 (GRCm39) |
Y84F |
probably benign |
Het |
Slc25a23 |
T |
C |
17: 57,366,597 (GRCm39) |
D26G |
probably damaging |
Het |
Slc41a2 |
T |
C |
10: 83,152,320 (GRCm39) |
K52E |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,247,951 (GRCm39) |
F501L |
probably benign |
Het |
Slfn5 |
T |
A |
11: 82,847,226 (GRCm39) |
M37K |
probably benign |
Het |
Sptbn1 |
A |
C |
11: 30,067,759 (GRCm39) |
F1818L |
probably benign |
Het |
Taf3 |
T |
C |
2: 9,956,770 (GRCm39) |
T466A |
probably damaging |
Het |
Thbs2 |
C |
T |
17: 14,891,750 (GRCm39) |
G929D |
probably damaging |
Het |
Tmc3 |
A |
T |
7: 83,271,746 (GRCm39) |
D995V |
probably damaging |
Het |
Tmem262 |
T |
C |
19: 6,130,452 (GRCm39) |
F59L |
possibly damaging |
Het |
Triobp |
A |
G |
15: 78,875,228 (GRCm39) |
D137G |
probably damaging |
Het |
Tspear |
T |
C |
10: 77,702,199 (GRCm39) |
F211L |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,728,670 (GRCm39) |
|
probably benign |
Het |
Ugt2b5 |
T |
A |
5: 87,287,550 (GRCm39) |
M206L |
probably benign |
Het |
Ush1g |
A |
T |
11: 115,209,466 (GRCm39) |
S243T |
probably damaging |
Het |
Usp19 |
A |
T |
9: 108,370,433 (GRCm39) |
T86S |
possibly damaging |
Het |
Wdhd1 |
A |
G |
14: 47,506,149 (GRCm39) |
V255A |
probably benign |
Het |
Wdr11 |
G |
A |
7: 129,220,394 (GRCm39) |
W594* |
probably null |
Het |
Wnk3 |
T |
A |
X: 149,993,933 (GRCm39) |
Y331* |
probably null |
Het |
Zfp429 |
A |
T |
13: 67,538,523 (GRCm39) |
I307K |
probably benign |
Het |
Zkscan14 |
T |
A |
5: 145,132,444 (GRCm39) |
K362N |
probably 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 |
|
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'- AGTGGAGTCGCTCTCTTCTG -3'
(R):5'- GGTGAACACTGTGCCTCCATTAG -3'
Sequencing Primer
(F):5'- GACGATTCTAATTTCCTAGACGC -3'
(R):5'- CTCCATTAGATAGTATGCAGCCTGG -3'
|
Posted On |
2015-12-29 |