Incidental Mutation 'IGL01889:Brap'
| ID |
179212 |
| 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 # |
IGL01889
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121798626-121825312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121798881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 18
(V18I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031412]
[ENSMUST00000031414]
[ENSMUST00000111765]
[ENSMUST00000111770]
[ENSMUST00000140996]
[ENSMUST00000195952]
[ENSMUST00000142701]
|
| AlphaFold |
Q99MP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031412
|
| SMART Domains |
Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAD_2
|
45 |
231 |
1.6e-14 |
PFAM |
|
Pfam:Hydrolase
|
88 |
225 |
5e-8 |
PFAM |
|
Pfam:APH
|
287 |
531 |
1.8e-52 |
PFAM |
|
Pfam:Acyl-CoA_dh_N
|
660 |
787 |
1.7e-15 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
791 |
892 |
2.7e-20 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
904 |
1055 |
1.1e-35 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
919 |
1037 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031414
AA Change: V18I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031414
Gene: ENSMUSG00000029458
AA Change: V18I
| 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 |
probably benign
Transcript: ENSMUST00000111770
|
| SMART Domains |
Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAD_2
|
45 |
231 |
2.3e-14 |
PFAM |
|
Pfam:APH
|
287 |
523 |
3.2e-50 |
PFAM |
|
Pfam:EcKinase
|
390 |
504 |
5.2e-8 |
PFAM |
|
Pfam:Acyl-CoA_dh_N
|
660 |
787 |
3.4e-14 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
791 |
845 |
2.7e-13 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
904 |
1055 |
9.4e-36 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
919 |
1037 |
1.6e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133775
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140996
AA Change: V18I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148052
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142701
|
| SMART Domains |
Protein: ENSMUSP00000143043
Gene: ENSMUSG00000029458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BRAP2
|
103 |
175 |
3.8e-20 |
PFAM |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
A |
6: 92,804,981 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,048,857 (GRCm39) |
V2282M |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,935,967 (GRCm38) |
E2269G |
possibly damaging |
Het |
| Gaa |
A |
G |
11: 119,169,123 (GRCm39) |
I557V |
probably benign |
Het |
| Gapt |
T |
A |
13: 110,490,501 (GRCm39) |
Q54L |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,651,852 (GRCm39) |
I253N |
possibly damaging |
Het |
| Kcnj3 |
T |
A |
2: 55,327,216 (GRCm39) |
S2T |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,538,444 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,225,427 (GRCm39) |
V1048A |
possibly damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,112,261 (GRCm39) |
V636D |
unknown |
Het |
| Nphs1 |
G |
T |
7: 30,159,936 (GRCm39) |
R82S |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,313,089 (GRCm39) |
F164L |
probably benign |
Het |
| Or4x6 |
A |
G |
2: 89,949,309 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or6z3 |
G |
A |
7: 6,463,502 (GRCm39) |
|
probably benign |
Het |
| Papln |
T |
A |
12: 83,833,609 (GRCm39) |
L1175Q |
probably benign |
Het |
| Rab22a |
T |
C |
2: 173,530,031 (GRCm39) |
|
probably benign |
Het |
| Rel |
A |
G |
11: 23,707,035 (GRCm39) |
Y56H |
probably damaging |
Het |
| Sdc4 |
A |
G |
2: 164,273,127 (GRCm39) |
L61P |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,264,089 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,189,783 (GRCm39) |
C3989* |
probably null |
Het |
| Zfyve16 |
A |
G |
13: 92,659,077 (GRCm39) |
V278A |
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 |
|
|
IGL01977:Brap
|
APN |
5 |
121,816,910 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01978:Brap
|
APN |
5 |
121,816,910 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01996: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 |
2014-05-07 |
Incidental Mutation