Incidental Mutation 'IGL01996:Brap'
ID |
279267 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Brap
|
Ensembl Gene |
ENSMUSG00000029458 |
Gene Name |
BRCA1 associated protein |
Synonyms |
3010002G07Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01996
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
121798626-121825312 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 121816910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031414]
[ENSMUST00000111765]
[ENSMUST00000140996]
[ENSMUST00000195952]
|
AlphaFold |
Q99MP8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031414
|
SMART Domains |
Protein: ENSMUSP00000031414 Gene: ENSMUSG00000029458
Domain | Start | End | E-Value | Type |
Pfam:BRAP2
|
153 |
251 |
3.7e-38 |
PFAM |
RING
|
263 |
302 |
7.92e-8 |
SMART |
ZnF_UBP
|
315 |
364 |
1.68e-25 |
SMART |
coiled coil region
|
430 |
535 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111765
|
SMART Domains |
Protein: ENSMUSP00000107395 Gene: ENSMUSG00000029458
Domain | Start | End | E-Value | Type |
Pfam:BRAP2
|
117 |
226 |
3.5e-41 |
PFAM |
RING
|
233 |
272 |
3.7e-10 |
SMART |
ZnF_UBP
|
285 |
334 |
1.1e-27 |
SMART |
coiled coil region
|
400 |
505 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127703
|
SMART Domains |
Protein: ENSMUSP00000118574 Gene: ENSMUSG00000029458
Domain | Start | End | E-Value | Type |
Pfam:BRAP2
|
1 |
39 |
6.3e-13 |
PFAM |
RING
|
46 |
85 |
7.92e-8 |
SMART |
ZnF_UBP
|
98 |
147 |
1.68e-25 |
SMART |
coiled coil region
|
213 |
318 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140996
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196897
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis and subtle defects in cell cycle-dependent nuclear movement in neural progenitors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
C |
1: 120,078,430 (GRCm39) |
V29A |
possibly damaging |
Het |
Adarb1 |
A |
G |
10: 77,158,051 (GRCm39) |
L132P |
probably damaging |
Het |
Afg3l1 |
T |
G |
8: 124,228,633 (GRCm39) |
M733R |
probably damaging |
Het |
Aox1 |
C |
T |
1: 58,121,225 (GRCm39) |
R899C |
probably benign |
Het |
Arhgap44 |
T |
A |
11: 64,896,322 (GRCm39) |
|
probably benign |
Het |
Asns |
T |
C |
6: 7,682,378 (GRCm39) |
D189G |
possibly damaging |
Het |
Ccdc138 |
T |
A |
10: 58,397,852 (GRCm39) |
L564H |
probably damaging |
Het |
Ccdc167 |
A |
G |
17: 29,924,461 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
G |
18: 22,230,813 (GRCm39) |
Y353H |
probably damaging |
Het |
Clca3b |
A |
T |
3: 144,554,924 (GRCm39) |
S41R |
probably benign |
Het |
Dpep3 |
T |
C |
8: 106,701,358 (GRCm39) |
N397S |
probably damaging |
Het |
Eif1 |
T |
C |
11: 100,211,826 (GRCm39) |
I83T |
probably benign |
Het |
Enah |
A |
T |
1: 181,784,070 (GRCm39) |
W80R |
unknown |
Het |
F2rl1 |
C |
T |
13: 95,650,432 (GRCm39) |
C150Y |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,434,440 (GRCm39) |
R387G |
possibly damaging |
Het |
Fsd1l |
A |
G |
4: 53,647,760 (GRCm39) |
T68A |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,740,846 (GRCm39) |
K1412R |
possibly damaging |
Het |
Grin2b |
T |
C |
6: 135,709,584 (GRCm39) |
S1321G |
probably damaging |
Het |
H4c11 |
G |
A |
13: 21,919,308 (GRCm39) |
G15S |
unknown |
Het |
Itgb7 |
C |
T |
15: 102,126,412 (GRCm39) |
G508D |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,895,545 (GRCm39) |
I333T |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,934,542 (GRCm39) |
D2115G |
probably damaging |
Het |
Lmtk3 |
G |
A |
7: 45,442,871 (GRCm39) |
|
probably null |
Het |
Lrpprc |
A |
G |
17: 85,080,698 (GRCm39) |
Y176H |
probably benign |
Het |
Mier1 |
T |
C |
4: 102,984,473 (GRCm39) |
S22P |
possibly damaging |
Het |
Mme |
A |
T |
3: 63,250,970 (GRCm39) |
N337I |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,350,679 (GRCm39) |
Y687C |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,788,419 (GRCm39) |
M373T |
probably damaging |
Het |
Nudcd1 |
A |
T |
15: 44,269,357 (GRCm39) |
F101Y |
probably benign |
Het |
Nup133 |
T |
A |
8: 124,673,334 (GRCm39) |
I66L |
probably benign |
Het |
Or10j7 |
T |
C |
1: 173,011,294 (GRCm39) |
T236A |
probably benign |
Het |
Or11j4 |
T |
G |
14: 50,631,116 (GRCm39) |
M301R |
probably damaging |
Het |
Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
Osbpl5 |
A |
G |
7: 143,261,081 (GRCm39) |
|
probably null |
Het |
Paqr8 |
T |
C |
1: 21,005,628 (GRCm39) |
F261L |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,482,084 (GRCm39) |
E1452G |
probably damaging |
Het |
Polh |
T |
C |
17: 46,483,927 (GRCm39) |
D446G |
probably benign |
Het |
Psg19 |
A |
T |
7: 18,523,986 (GRCm39) |
M353K |
possibly damaging |
Het |
Sap25 |
T |
C |
5: 137,640,080 (GRCm39) |
|
probably null |
Het |
Sap30l |
C |
T |
11: 57,700,777 (GRCm39) |
R144* |
probably null |
Het |
Sema6b |
C |
T |
17: 56,438,157 (GRCm39) |
V144M |
probably damaging |
Het |
Sfmbt2 |
T |
C |
2: 10,444,837 (GRCm39) |
Y228H |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,965,230 (GRCm39) |
D946G |
probably damaging |
Het |
Slc11a1 |
T |
A |
1: 74,415,965 (GRCm39) |
L52Q |
possibly damaging |
Het |
Sptlc3 |
T |
C |
2: 139,423,424 (GRCm39) |
|
probably benign |
Het |
Tgfb1i1 |
T |
C |
7: 127,848,464 (GRCm39) |
|
probably benign |
Het |
Tifa |
T |
C |
3: 127,590,229 (GRCm39) |
|
probably benign |
Het |
Tomm40l |
C |
T |
1: 171,047,224 (GRCm39) |
V265M |
possibly damaging |
Het |
Trim45 |
C |
A |
3: 100,835,425 (GRCm39) |
Y469* |
probably null |
Het |
Ttc21a |
G |
T |
9: 119,787,182 (GRCm39) |
A730S |
probably damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,001 (GRCm39) |
D184E |
possibly damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,832,222 (GRCm39) |
I189N |
possibly damaging |
Het |
|
Other mutations in Brap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00823:Brap
|
APN |
5 |
121,803,290 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01672:Brap
|
APN |
5 |
121,816,908 (GRCm39) |
unclassified |
probably benign |
|
IGL01889:Brap
|
APN |
5 |
121,798,881 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01977:Brap
|
APN |
5 |
121,816,910 (GRCm39) |
unclassified |
probably benign |
|
IGL01978:Brap
|
APN |
5 |
121,816,910 (GRCm39) |
unclassified |
probably benign |
|
IGL02499:Brap
|
APN |
5 |
121,817,934 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03137:Brap
|
APN |
5 |
121,803,156 (GRCm39) |
splice site |
probably benign |
|
R1185:Brap
|
UTSW |
5 |
121,813,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1185:Brap
|
UTSW |
5 |
121,813,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1185:Brap
|
UTSW |
5 |
121,813,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Brap
|
UTSW |
5 |
121,820,922 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1709:Brap
|
UTSW |
5 |
121,803,353 (GRCm39) |
critical splice donor site |
probably null |
|
R2056:Brap
|
UTSW |
5 |
121,801,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:Brap
|
UTSW |
5 |
121,801,422 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3196:Brap
|
UTSW |
5 |
121,803,259 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4591:Brap
|
UTSW |
5 |
121,800,113 (GRCm39) |
missense |
probably null |
1.00 |
R4744:Brap
|
UTSW |
5 |
121,800,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R4924:Brap
|
UTSW |
5 |
121,803,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:Brap
|
UTSW |
5 |
121,800,089 (GRCm39) |
nonsense |
probably null |
|
R5702:Brap
|
UTSW |
5 |
121,803,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R5893:Brap
|
UTSW |
5 |
121,817,405 (GRCm39) |
nonsense |
probably null |
|
R6244:Brap
|
UTSW |
5 |
121,803,372 (GRCm39) |
missense |
probably benign |
0.02 |
R6266:Brap
|
UTSW |
5 |
121,823,328 (GRCm39) |
missense |
probably benign |
0.00 |
R6726:Brap
|
UTSW |
5 |
121,813,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R7765:Brap
|
UTSW |
5 |
121,800,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7995:Brap
|
UTSW |
5 |
121,820,909 (GRCm39) |
missense |
probably benign |
|
R8385:Brap
|
UTSW |
5 |
121,823,197 (GRCm39) |
missense |
probably benign |
0.05 |
R8465:Brap
|
UTSW |
5 |
121,817,358 (GRCm39) |
nonsense |
probably null |
|
R8809:Brap
|
UTSW |
5 |
121,822,524 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8827:Brap
|
UTSW |
5 |
121,810,261 (GRCm39) |
missense |
probably benign |
0.00 |
R9191:Brap
|
UTSW |
5 |
121,823,350 (GRCm39) |
missense |
probably benign |
0.01 |
R9631:Brap
|
UTSW |
5 |
121,822,435 (GRCm39) |
missense |
probably benign |
0.16 |
R9705:Brap
|
UTSW |
5 |
121,801,373 (GRCm39) |
missense |
probably benign |
|
X0003:Brap
|
UTSW |
5 |
121,817,319 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Brap
|
UTSW |
5 |
121,813,440 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Posted On |
2015-04-16 |