Incidental Mutation 'IGL00328:Bap1'
ID 4218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bap1
Ensembl Gene ENSMUSG00000021901
Gene Name Brca1 associated protein 1
Synonyms 2300006C11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00328
Quality Score
Status
Chromosome 14
Chromosomal Location 31251450-31259944 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 31253569 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 123 (S123R)
Ref Sequence ENSEMBL: ENSMUSP00000022458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022458] [ENSMUST00000022459] [ENSMUST00000187156] [ENSMUST00000188453] [ENSMUST00000226310] [ENSMUST00000226565] [ENSMUST00000228437] [ENSMUST00000228930]
AlphaFold Q99PU7
Predicted Effect probably damaging
Transcript: ENSMUST00000022458
AA Change: S123R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022458
Gene: ENSMUSG00000021901
AA Change: S123R

DomainStartEndE-ValueType
Pfam:Peptidase_C12 5 215 3e-70 PFAM
low complexity region 282 293 N/A INTRINSIC
low complexity region 396 407 N/A INTRINSIC
low complexity region 577 596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022459
SMART Domains Protein: ENSMUSP00000022459
Gene: ENSMUSG00000021902

DomainStartEndE-ValueType
PHD 97 145 8.45e-3 SMART
RING 160 207 7.46e-1 SMART
RING 250 300 4.87e0 SMART
PHD 252 301 1.16e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185987
Predicted Effect probably benign
Transcript: ENSMUST00000187156
SMART Domains Protein: ENSMUSP00000139903
Gene: ENSMUSG00000021901

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000188453
AA Change: S123R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139824
Gene: ENSMUSG00000021901
AA Change: S123R

DomainStartEndE-ValueType
Pfam:Peptidase_C12 4 137 3.7e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190788
Predicted Effect probably benign
Transcript: ENSMUST00000226310
Predicted Effect probably benign
Transcript: ENSMUST00000226565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228140
Predicted Effect probably benign
Transcript: ENSMUST00000228437
Predicted Effect probably benign
Transcript: ENSMUST00000228930
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous deletion of this gene causes delayed embryonic growth and complete lethality during organogenesis. Systemic or hematopoietic-restricted deletion in adults recapitulates features of myelodysplastic syndrome. Heterozygotes show increased incidence of asbestos-induced malignant mesothelioma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,339,374 V378I possibly damaging Het
Acad12 C T 5: 121,604,253 probably benign Het
Cers2 A T 3: 95,320,686 K73I probably benign Het
Dab1 T C 4: 104,688,438 V240A possibly damaging Het
Fry C T 5: 150,340,404 R171* probably null Het
Krtap5-3 G T 7: 142,201,875 probably benign Het
Ltn1 A G 16: 87,418,490 I419T probably benign Het
Map4k4 A G 1: 40,004,816 R540G probably damaging Het
Mki67 A C 7: 135,696,695 S2203R probably benign Het
Ptrh1 G T 2: 32,776,341 probably null Het
Tnfaip8 A G 18: 50,090,326 E67G probably damaging Het
Vmn1r2 T A 4: 3,172,807 L242Q probably damaging Het
Vmn2r52 A G 7: 10,171,417 L165P probably benign Het
Other mutations in Bap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02110:Bap1 APN 14 31257414 missense probably damaging 0.97
IGL02740:Bap1 APN 14 31256772 missense possibly damaging 0.94
IGL02937:Bap1 APN 14 31258327 missense probably benign 0.07
R0138:Bap1 UTSW 14 31256724 missense probably damaging 1.00
R1221:Bap1 UTSW 14 31257651 missense probably damaging 1.00
R2131:Bap1 UTSW 14 31258331 nonsense probably null
R2204:Bap1 UTSW 14 31256701 missense probably benign 0.10
R3781:Bap1 UTSW 14 31257618 missense possibly damaging 0.71
R4882:Bap1 UTSW 14 31251721 unclassified probably benign
R4897:Bap1 UTSW 14 31258445 unclassified probably benign
R5249:Bap1 UTSW 14 31257286 unclassified probably benign
R6548:Bap1 UTSW 14 31256225 missense probably benign 0.01
R6990:Bap1 UTSW 14 31255651 missense probably benign
R7203:Bap1 UTSW 14 31254169 missense probably damaging 1.00
R7212:Bap1 UTSW 14 31251623 missense probably damaging 0.99
R7414:Bap1 UTSW 14 31253615 missense probably benign 0.05
R7956:Bap1 UTSW 14 31255568 missense probably benign 0.11
R8062:Bap1 UTSW 14 31257508 missense probably benign 0.38
R8070:Bap1 UTSW 14 31256686 missense probably damaging 1.00
R8875:Bap1 UTSW 14 31253565 missense probably damaging 1.00
Posted On 2012-04-20