Incidental Mutation 'R8385:Brap'
ID |
647110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brap
|
Ensembl Gene |
ENSMUSG00000029458 |
Gene Name |
BRCA1 associated protein |
Synonyms |
3010002G07Rik |
MMRRC Submission |
067751-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8385 (G1)
|
Quality Score |
213.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
121798626-121825312 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 121823197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 473
(T473I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031414
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031414]
[ENSMUST00000111765]
[ENSMUST00000140996]
|
AlphaFold |
Q99MP8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031414
AA Change: T473I
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000031414 Gene: ENSMUSG00000029458 AA Change: T473I
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
AA Change: T443I
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000107395 Gene: ENSMUSG00000029458 AA Change: T443I
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: ENSMUST00000140996
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1e |
T |
A |
1: 154,319,687 (GRCm39) |
M1400L |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,240,621 (GRCm39) |
I127T |
possibly damaging |
Het |
Dbt |
A |
T |
3: 116,317,039 (GRCm39) |
I72F |
probably damaging |
Het |
Ddhd2 |
T |
C |
8: 26,225,041 (GRCm39) |
H592R |
probably damaging |
Het |
Disp2 |
T |
A |
2: 118,620,891 (GRCm39) |
M541K |
probably damaging |
Het |
Dnai7 |
C |
T |
6: 145,120,918 (GRCm39) |
E685K |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,878,090 (GRCm39) |
D327G |
probably benign |
Het |
Dvl1 |
A |
G |
4: 155,940,037 (GRCm39) |
S390G |
possibly damaging |
Het |
Fbxo22 |
A |
G |
9: 55,121,233 (GRCm39) |
D106G |
probably damaging |
Het |
Gfm2 |
A |
G |
13: 97,301,519 (GRCm39) |
T441A |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,780,347 (GRCm39) |
I192V |
probably damaging |
Het |
Gosr1 |
T |
A |
11: 76,620,967 (GRCm39) |
T241S |
possibly damaging |
Het |
Hk2 |
T |
C |
6: 82,706,527 (GRCm39) |
S792G |
probably benign |
Het |
Itsn1 |
A |
C |
16: 91,690,699 (GRCm39) |
K1302Q |
unknown |
Het |
Kif16b |
T |
C |
2: 142,554,258 (GRCm39) |
K847E |
probably benign |
Het |
Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
Mark3 |
A |
G |
12: 111,621,808 (GRCm39) |
D650G |
possibly damaging |
Het |
Mgat4f |
A |
G |
1: 134,318,376 (GRCm39) |
K383E |
probably benign |
Het |
Mob3b |
T |
C |
4: 34,985,980 (GRCm39) |
Y186C |
probably damaging |
Het |
Mphosph9 |
T |
C |
5: 124,450,785 (GRCm39) |
K329E |
probably benign |
Het |
Mta1 |
A |
T |
12: 113,095,085 (GRCm39) |
M448L |
probably benign |
Het |
Mterf1a |
A |
T |
5: 3,941,384 (GRCm39) |
N161K |
probably damaging |
Het |
Myo10 |
T |
A |
15: 25,804,484 (GRCm39) |
I1593N |
probably damaging |
Het |
Naca |
A |
G |
10: 127,878,307 (GRCm39) |
N1113S |
unknown |
Het |
Or2w4 |
T |
C |
13: 21,795,522 (GRCm39) |
I206V |
probably benign |
Het |
Or5e1 |
T |
G |
7: 108,354,511 (GRCm39) |
Y149* |
probably null |
Het |
Pcdhga1 |
A |
T |
18: 37,795,149 (GRCm39) |
D51V |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,711,082 (GRCm39) |
E1380G |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,794,702 (GRCm39) |
V2130M |
possibly damaging |
Het |
Pla2g4c |
C |
T |
7: 13,063,589 (GRCm39) |
P19S |
probably benign |
Het |
Popdc2 |
G |
A |
16: 38,183,262 (GRCm39) |
V82I |
probably benign |
Het |
Ppfibp2 |
A |
G |
7: 107,296,894 (GRCm39) |
R203G |
probably benign |
Het |
Rab19 |
T |
A |
6: 39,360,892 (GRCm39) |
N13K |
probably benign |
Het |
Raet1d |
T |
A |
10: 22,246,817 (GRCm39) |
D48E |
probably benign |
Het |
Rell1 |
T |
A |
5: 64,087,861 (GRCm39) |
K136* |
probably null |
Het |
Slc38a4 |
A |
G |
15: 96,897,393 (GRCm39) |
I474T |
probably damaging |
Het |
Slf1 |
T |
C |
13: 77,254,109 (GRCm39) |
M243V |
probably benign |
Het |
Spata31f1a |
C |
T |
4: 42,850,509 (GRCm39) |
R549H |
possibly damaging |
Het |
Speer4c2 |
A |
T |
5: 15,857,669 (GRCm39) |
S203T |
unknown |
Het |
Spg11 |
A |
T |
2: 121,927,802 (GRCm39) |
S661T |
probably benign |
Het |
Thra |
C |
G |
11: 98,659,177 (GRCm39) |
S435R |
probably benign |
Het |
Tmem181a |
T |
C |
17: 6,339,274 (GRCm39) |
I61T |
probably benign |
Het |
Ttpa |
G |
A |
4: 20,028,483 (GRCm39) |
G247S |
probably damaging |
Het |
Usp17lb |
C |
T |
7: 104,489,830 (GRCm39) |
V366I |
possibly damaging |
Het |
Vit |
A |
T |
17: 78,927,066 (GRCm39) |
Q337L |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,914,088 (GRCm39) |
Y551C |
possibly damaging |
Het |
Vps52 |
T |
C |
17: 34,181,791 (GRCm39) |
L539P |
probably damaging |
Het |
Ythdc1 |
C |
A |
5: 86,975,961 (GRCm39) |
P529T |
possibly damaging |
Het |
Zdhhc13 |
T |
C |
7: 48,455,444 (GRCm39) |
|
probably null |
Het |
Zfp282 |
A |
T |
6: 47,882,023 (GRCm39) |
Y570F |
possibly damaging |
Het |
Zfp872 |
A |
T |
9: 22,111,407 (GRCm39) |
K295N |
probably 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 |
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 |
|
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'- GGACAGGACCTAATGGCTAATGATG -3'
(R):5'- ATCTGCTGCTGTGTCTCCAG -3'
Sequencing Primer
(F):5'- CCTAATGGCTAATGATGCTGAGC -3'
(R):5'- CTGTGTCTCCAGGTAGAACATGAC -3'
|
Posted On |
2020-09-02 |