Incidental Mutation 'R6726:Brap'
| ID |
529859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brap
|
| Ensembl Gene |
ENSMUSG00000029458 |
| Gene Name |
BRCA1 associated protein |
| Synonyms |
3010002G07Rik |
| MMRRC Submission |
044844-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121798626-121825312 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121813365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 243
(S243P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031414]
[ENSMUST00000111765]
[ENSMUST00000140996]
[ENSMUST00000195952]
|
| AlphaFold |
Q99MP8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031414
AA Change: S273P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031414
Gene: ENSMUSG00000029458
AA Change: S273P
| 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 damaging
Transcript: ENSMUST00000111765
AA Change: S243P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107395
Gene: ENSMUSG00000029458
AA Change: S243P
| 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
|
| Meta Mutation Damage Score |
0.6590 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,735,540 (GRCm39) |
|
probably null |
Het |
| Arsk |
T |
C |
13: 76,222,907 (GRCm39) |
Y230C |
probably damaging |
Het |
| Atf7ip |
G |
A |
6: 136,559,389 (GRCm39) |
V737M |
probably damaging |
Het |
| Atp6v1e1 |
A |
T |
6: 120,781,011 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
C |
9: 22,557,260 (GRCm39) |
V3A |
probably benign |
Het |
| Camkmt |
T |
A |
17: 85,702,037 (GRCm39) |
I167N |
probably damaging |
Het |
| Ckap2l |
C |
A |
2: 129,111,114 (GRCm39) |
E694D |
probably damaging |
Het |
| Crmp1 |
G |
A |
5: 37,441,408 (GRCm39) |
V497I |
probably benign |
Het |
| Dbx2 |
A |
G |
15: 95,522,741 (GRCm39) |
V322A |
possibly damaging |
Het |
| Dll1 |
C |
A |
17: 15,590,513 (GRCm39) |
C401F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,490,147 (GRCm39) |
T1991A |
probably damaging |
Het |
| Dock3 |
C |
T |
9: 107,036,651 (GRCm39) |
W42* |
probably null |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,287 (GRCm39) |
E426G |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Irs2 |
T |
C |
8: 11,054,961 (GRCm39) |
N1157S |
possibly damaging |
Het |
| Kndc1 |
T |
C |
7: 139,502,667 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
T |
C |
1: 127,748,185 (GRCm39) |
N1241S |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,615,906 (GRCm39) |
F17S |
possibly damaging |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,683,657 (GRCm39) |
D41E |
probably damaging |
Het |
| Plg |
T |
G |
17: 12,597,595 (GRCm39) |
L14R |
probably damaging |
Het |
| Prkab1 |
A |
G |
5: 116,158,092 (GRCm39) |
V168A |
probably benign |
Het |
| Prr35 |
G |
C |
17: 26,166,689 (GRCm39) |
P283A |
probably benign |
Het |
| Ptdss1 |
C |
T |
13: 67,101,595 (GRCm39) |
R95* |
probably null |
Het |
| Rab3gap2 |
T |
G |
1: 184,980,062 (GRCm39) |
S327A |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Homo |
| Sdr42e2 |
T |
C |
7: 120,425,332 (GRCm39) |
S308P |
probably damaging |
Het |
| Senp8 |
C |
A |
9: 59,644,473 (GRCm39) |
V228L |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,594,628 (GRCm39) |
I197K |
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,854,718 (GRCm39) |
N231S |
probably benign |
Het |
| Sez6l2 |
T |
C |
7: 126,567,177 (GRCm39) |
V869A |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,380,769 (GRCm39) |
K688* |
probably null |
Het |
| Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
| Ufsp2 |
T |
C |
8: 46,438,504 (GRCm39) |
M194T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,485,881 (GRCm39) |
I2997T |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,637 (GRCm39) |
G730D |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,059,822 (GRCm39) |
Y411H |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,343,212 (GRCm39) |
S1818P |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTAAGAGTTCCAGGTGAGCC -3'
(R):5'- GAGATCCCAGCTTTGCAGAG -3'
Sequencing Primer
(F):5'- CTACAGGGGAACTCTGTCTCC -3'
(R):5'- CTTTGCAGAGCCAAGGACTAGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation