Incidental Mutation 'IGL01978:Brap'
ID279245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brap
Ensembl Gene ENSMUSG00000029458
Gene NameBRCA1 associated protein
Synonyms3010002G07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01978
Quality Score
Status
Chromosome5
Chromosomal Location121660563-121687256 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 121678847 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031414] [ENSMUST00000111765] [ENSMUST00000140996] [ENSMUST00000195952]
Predicted Effect probably benign
Transcript: ENSMUST00000031414
SMART Domains Protein: ENSMUSP00000031414
Gene: ENSMUSG00000029458

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,219,382 N1805I probably damaging Het
9830107B12Rik T A 17: 48,145,993 T6S probably damaging Het
Acot5 T C 12: 84,075,398 V252A possibly damaging Het
Bmper A T 9: 23,381,441 N349Y probably damaging Het
Col9a2 G A 4: 121,044,666 G139E unknown Het
Cyp2j8 A C 4: 96,504,009 probably null Het
Dcbld2 A G 16: 58,464,319 D612G probably benign Het
Dsc3 C T 18: 19,974,196 R456Q possibly damaging Het
Fat2 T C 11: 55,270,146 T3253A probably benign Het
Hoxc12 T A 15: 102,936,864 H4Q probably damaging Het
Il6st A G 13: 112,497,357 E445G possibly damaging Het
Ipo8 T C 6: 148,777,289 E937G probably benign Het
Kif5a A C 10: 127,245,739 D185E probably benign Het
Klhl38 T C 15: 58,315,089 D495G probably damaging Het
Klra5 A G 6: 129,911,430 V11A probably benign Het
Lrch1 G A 14: 74,786,342 T581M probably damaging Het
Mecom A G 3: 29,963,166 I450T probably damaging Het
Mrgprb2 C A 7: 48,552,564 V138L probably damaging Het
Muc15 G A 2: 110,731,596 A126T probably benign Het
Mybpc1 A T 10: 88,531,770 I522K probably damaging Het
Nectin1 G A 9: 43,792,147 R234H probably damaging Het
Olfr1450 T C 19: 12,954,042 F151S probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Pdia6 T A 12: 17,274,422 H91Q possibly damaging Het
Pfkfb4 A T 9: 109,028,942 H445L probably damaging Het
Pkd1l1 T C 11: 8,961,336 T314A unknown Het
Rb1cc1 A G 1: 6,238,368 D159G probably damaging Het
Rhoh T A 5: 65,892,688 S100R probably benign Het
Rsbn1 T A 3: 103,961,500 D618E probably damaging Het
Slc25a47 T C 12: 108,851,190 V4A probably damaging Het
Svs3b T A 2: 164,256,621 M1L probably benign Het
Thsd7a T C 6: 12,331,006 N1379S probably benign Het
Tmed3 T C 9: 89,704,753 D58G probably benign Het
Trh G A 6: 92,242,615 A240V probably benign Het
Ubox5 A T 2: 130,600,452 V105E probably benign Het
Vmn2r67 A G 7: 85,151,441 probably null Het
Vps13c A G 9: 67,930,643 H1825R probably benign Het
Wasf1 C A 10: 40,936,201 P329T unknown Het
Wee2 T C 6: 40,455,153 F219L probably damaging Het
Zp3r T C 1: 130,598,941 D175G probably damaging Het
Other mutations in Brap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Brap APN 5 121665227 missense probably damaging 1.00
IGL01672:Brap APN 5 121678845 unclassified probably benign
IGL01889:Brap APN 5 121660818 missense probably benign 0.00
IGL01977:Brap APN 5 121678847 unclassified probably benign
IGL01996:Brap APN 5 121678847 unclassified probably benign
IGL02499:Brap APN 5 121679871 missense probably damaging 0.99
IGL03137:Brap APN 5 121665093 splice site probably benign
R1185:Brap UTSW 5 121675279 missense probably damaging 1.00
R1185:Brap UTSW 5 121675279 missense probably damaging 1.00
R1185:Brap UTSW 5 121675279 missense probably damaging 1.00
R1624:Brap UTSW 5 121682859 missense possibly damaging 0.65
R1709:Brap UTSW 5 121665290 critical splice donor site probably null
R2056:Brap UTSW 5 121663466 missense probably damaging 1.00
R2109:Brap UTSW 5 121663359 missense possibly damaging 0.63
R3196:Brap UTSW 5 121665196 missense possibly damaging 0.70
R4591:Brap UTSW 5 121662050 missense probably null 1.00
R4744:Brap UTSW 5 121662130 missense probably damaging 1.00
R4924:Brap UTSW 5 121665255 missense probably damaging 1.00
R5000:Brap UTSW 5 121662026 nonsense probably null
R5702:Brap UTSW 5 121665143 missense probably damaging 1.00
R5893:Brap UTSW 5 121679342 nonsense probably null
R6244:Brap UTSW 5 121665309 missense probably benign 0.02
R6266:Brap UTSW 5 121685265 missense probably benign 0.00
R6726:Brap UTSW 5 121675302 missense probably damaging 1.00
R7765:Brap UTSW 5 121662129 missense probably damaging 1.00
R7995:Brap UTSW 5 121682846 missense probably benign
R8385:Brap UTSW 5 121685134 missense probably benign 0.05
R8465:Brap UTSW 5 121679295 nonsense probably null
R8809:Brap UTSW 5 121684461 missense possibly damaging 0.78
R8827:Brap UTSW 5 121672198 missense probably benign 0.00
X0003:Brap UTSW 5 121679256 missense probably damaging 1.00
Z1176:Brap UTSW 5 121675377 missense possibly damaging 0.78
Posted On2015-04-16