Incidental Mutation 'IGL03137:Brap'
| ID |
410596 |
| 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 # |
IGL03137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121798626-121825312 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 121803156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031412]
[ENSMUST00000031414]
[ENSMUST00000111765]
[ENSMUST00000111770]
[ENSMUST00000140996]
[ENSMUST00000142701]
[ENSMUST00000195952]
|
| 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
|
| 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 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000132491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133775
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140996
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148052
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankub1 |
T |
C |
3: 57,597,778 (GRCm39) |
D64G |
probably damaging |
Het |
| Apobec2 |
C |
T |
17: 48,730,303 (GRCm39) |
W121* |
probably null |
Het |
| Arid2 |
A |
G |
15: 96,269,199 (GRCm39) |
N1104S |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,088,751 (GRCm39) |
M569K |
probably damaging |
Het |
| Cilp |
A |
C |
9: 65,185,450 (GRCm39) |
N515T |
probably benign |
Het |
| Cpeb2 |
T |
A |
5: 43,419,067 (GRCm39) |
|
probably benign |
Het |
| Creb1 |
C |
T |
1: 64,615,374 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,441,117 (GRCm39) |
V1062A |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,133,312 (GRCm39) |
E1153G |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,058,345 (GRCm39) |
|
probably benign |
Het |
| Gm5478 |
G |
T |
15: 101,552,817 (GRCm39) |
N60K |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,252,242 (GRCm39) |
V904D |
probably damaging |
Het |
| Hnmt |
T |
A |
2: 23,938,751 (GRCm39) |
H29L |
probably damaging |
Het |
| Hsf1 |
A |
G |
15: 76,380,649 (GRCm39) |
|
probably benign |
Het |
| Igkv1-122 |
C |
A |
6: 67,994,400 (GRCm39) |
T96K |
probably damaging |
Het |
| Iyd |
T |
C |
10: 3,501,987 (GRCm39) |
I211T |
probably damaging |
Het |
| Kcnn1 |
G |
T |
8: 71,303,381 (GRCm39) |
H34N |
probably damaging |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,946 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
C |
T |
1: 127,752,052 (GRCm39) |
R433K |
probably benign |
Het |
| Mss51 |
A |
C |
14: 20,537,200 (GRCm39) |
C89W |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,675,289 (GRCm39) |
I276N |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,963,337 (GRCm39) |
E420G |
probably damaging |
Het |
| Nfatc2ip |
C |
A |
7: 125,989,740 (GRCm39) |
V215L |
possibly damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,043,500 (GRCm39) |
Y88F |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,801 (GRCm39) |
M257T |
probably benign |
Het |
| Or5d18 |
G |
A |
2: 87,864,754 (GRCm39) |
A243V |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,569 (GRCm39) |
I293T |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,486,213 (GRCm39) |
S729P |
possibly damaging |
Het |
| Pick1 |
C |
A |
15: 79,129,501 (GRCm39) |
H169N |
possibly damaging |
Het |
| Ppp4r4 |
A |
C |
12: 103,547,643 (GRCm39) |
K212T |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,526,622 (GRCm39) |
S314P |
probably damaging |
Het |
| Rasef |
C |
A |
4: 73,652,720 (GRCm39) |
E594* |
probably null |
Het |
| Ryr3 |
T |
G |
2: 112,740,742 (GRCm39) |
K522Q |
probably benign |
Het |
| Shoc1 |
G |
T |
4: 59,094,162 (GRCm39) |
F187L |
probably benign |
Het |
| Six5 |
T |
C |
7: 18,831,072 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,691,615 (GRCm39) |
E619D |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,649,991 (GRCm39) |
I412V |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,294,379 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
C |
T |
5: 87,726,475 (GRCm39) |
R213K |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,082,050 (GRCm39) |
L411H |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,975,921 (GRCm39) |
N511Y |
probably damaging |
Het |
| Ucp3 |
T |
A |
7: 100,131,969 (GRCm39) |
|
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,974 (GRCm39) |
I63F |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,797,662 (GRCm39) |
L522F |
probably damaging |
Het |
| Wwp1 |
T |
A |
4: 19,678,408 (GRCm39) |
T3S |
probably damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,309,329 (GRCm39) |
S498P |
probably benign |
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 |
|
|
IGL01996:Brap
|
APN |
5 |
121,816,910 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02499:Brap
|
APN |
5 |
121,817,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2016-08-02 |
Incidental Mutation