Incidental Mutation 'IGL01996:Brap'
ID 279267
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) question?
Stock # IGL01996
Quality Score
Status
Chromosome 5
Chromosomal Location 121798626-121825312 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 121816910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031414] [ENSMUST00000111765] [ENSMUST00000140996] [ENSMUST00000195952]
AlphaFold Q99MP8
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,078,430 (GRCm39) V29A possibly damaging Het
Adarb1 A G 10: 77,158,051 (GRCm39) L132P probably damaging Het
Afg3l1 T G 8: 124,228,633 (GRCm39) M733R probably damaging Het
Aox1 C T 1: 58,121,225 (GRCm39) R899C probably benign Het
Arhgap44 T A 11: 64,896,322 (GRCm39) probably benign Het
Asns T C 6: 7,682,378 (GRCm39) D189G possibly damaging Het
Ccdc138 T A 10: 58,397,852 (GRCm39) L564H probably damaging Het
Ccdc167 A G 17: 29,924,461 (GRCm39) probably null Het
Ccdc178 A G 18: 22,230,813 (GRCm39) Y353H probably damaging Het
Clca3b A T 3: 144,554,924 (GRCm39) S41R probably benign Het
Dpep3 T C 8: 106,701,358 (GRCm39) N397S probably damaging Het
Eif1 T C 11: 100,211,826 (GRCm39) I83T probably benign Het
Enah A T 1: 181,784,070 (GRCm39) W80R unknown Het
F2rl1 C T 13: 95,650,432 (GRCm39) C150Y probably damaging Het
Fbxw24 T C 9: 109,434,440 (GRCm39) R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 (GRCm39) T68A probably benign Het
Greb1 T C 12: 16,740,846 (GRCm39) K1412R possibly damaging Het
Grin2b T C 6: 135,709,584 (GRCm39) S1321G probably damaging Het
H4c11 G A 13: 21,919,308 (GRCm39) G15S unknown Het
Itgb7 C T 15: 102,126,412 (GRCm39) G508D probably damaging Het
Kcnq3 A G 15: 65,895,545 (GRCm39) I333T probably damaging Het
Knl1 A G 2: 118,934,542 (GRCm39) D2115G probably damaging Het
Lmtk3 G A 7: 45,442,871 (GRCm39) probably null Het
Lrpprc A G 17: 85,080,698 (GRCm39) Y176H probably benign Het
Mier1 T C 4: 102,984,473 (GRCm39) S22P possibly damaging Het
Mme A T 3: 63,250,970 (GRCm39) N337I probably benign Het
Mthfd1 A G 12: 76,350,679 (GRCm39) Y687C probably damaging Het
Nrp2 T C 1: 62,788,419 (GRCm39) M373T probably damaging Het
Nudcd1 A T 15: 44,269,357 (GRCm39) F101Y probably benign Het
Nup133 T A 8: 124,673,334 (GRCm39) I66L probably benign Het
Or10j7 T C 1: 173,011,294 (GRCm39) T236A probably benign Het
Or11j4 T G 14: 50,631,116 (GRCm39) M301R probably damaging Het
Or1e19 T A 11: 73,316,794 (GRCm39) N5I probably damaging Het
Osbpl5 A G 7: 143,261,081 (GRCm39) probably null Het
Paqr8 T C 1: 21,005,628 (GRCm39) F261L probably damaging Het
Plxna2 A G 1: 194,482,084 (GRCm39) E1452G probably damaging Het
Polh T C 17: 46,483,927 (GRCm39) D446G probably benign Het
Psg19 A T 7: 18,523,986 (GRCm39) M353K possibly damaging Het
Sap25 T C 5: 137,640,080 (GRCm39) probably null Het
Sap30l C T 11: 57,700,777 (GRCm39) R144* probably null Het
Sema6b C T 17: 56,438,157 (GRCm39) V144M probably damaging Het
Sfmbt2 T C 2: 10,444,837 (GRCm39) Y228H probably benign Het
Shank2 A G 7: 143,965,230 (GRCm39) D946G probably damaging Het
Slc11a1 T A 1: 74,415,965 (GRCm39) L52Q possibly damaging Het
Sptlc3 T C 2: 139,423,424 (GRCm39) probably benign Het
Tgfb1i1 T C 7: 127,848,464 (GRCm39) probably benign Het
Tifa T C 3: 127,590,229 (GRCm39) probably benign Het
Tomm40l C T 1: 171,047,224 (GRCm39) V265M possibly damaging Het
Trim45 C A 3: 100,835,425 (GRCm39) Y469* probably null Het
Ttc21a G T 9: 119,787,182 (GRCm39) A730S probably damaging Het
Vmn1r18 A T 6: 57,367,001 (GRCm39) D184E possibly damaging Het
Vmn2r120 A T 17: 57,832,222 (GRCm39) I189N possibly damaging Het
Other mutations in Brap
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16