Incidental Mutation 'IGL03091:Babam2'
ID418400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Babam2
Ensembl Gene ENSMUSG00000052139
Gene NameBRISC and BRCA1 A complex member 2
SynonymsBre, 6030405P19Rik, B830038C02Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.703) question?
Stock #IGL03091
Quality Score
Status
Chromosome5
Chromosomal Location31697684-32084962 bp(+) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) T to A at 31785678 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063813] [ENSMUST00000071531] [ENSMUST00000114507] [ENSMUST00000114515] [ENSMUST00000131995] [ENSMUST00000200705] [ENSMUST00000201352] [ENSMUST00000202293]
Predicted Effect probably null
Transcript: ENSMUST00000063813
SMART Domains Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139

DomainStartEndE-ValueType
Pfam:BRE 70 370 3.4e-133 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000071531
SMART Domains Protein: ENSMUSP00000071462
Gene: ENSMUSG00000052139

DomainStartEndE-ValueType
Pfam:BRE 28 324 2.2e-204 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114507
SMART Domains Protein: ENSMUSP00000110152
Gene: ENSMUSG00000052139

DomainStartEndE-ValueType
Pfam:BRE 3 269 9.5e-182 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114515
SMART Domains Protein: ENSMUSP00000110160
Gene: ENSMUSG00000052139

DomainStartEndE-ValueType
Pfam:BRE 1 333 4.9e-235 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000131995
SMART Domains Protein: ENSMUSP00000128351
Gene: ENSMUSG00000052139

DomainStartEndE-ValueType
Pfam:BRE 1 195 4.3e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200705
SMART Domains Protein: ENSMUSP00000143964
Gene: ENSMUSG00000052139

DomainStartEndE-ValueType
Pfam:BRE 8 204 1.6e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201202
Predicted Effect probably null
Transcript: ENSMUST00000201352
SMART Domains Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139

DomainStartEndE-ValueType
Pfam:BRE 8 333 8.1e-146 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202270
Predicted Effect probably benign
Transcript: ENSMUST00000202293
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 encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are fertile. However, fibroblasts exhibit decreased proliferation and increased cellular replicative senescence in response to irradiation and hydrogen peroxide with impaired DNA damage repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 A T 4: 126,459,189 Y314N probably damaging Het
Aknad1 A G 3: 108,751,903 T78A possibly damaging Het
Arhgap33 G A 7: 30,528,293 P494S probably damaging Het
Ces2g T C 8: 104,964,754 V174A probably damaging Het
Chd1l G A 3: 97,563,547 R811C probably damaging Het
Crot A T 5: 8,966,897 H598Q probably benign Het
Dtx2 C T 5: 136,012,374 S211L probably damaging Het
Duox2 T G 2: 122,289,474 M852L probably benign Het
Fmc1 G T 6: 38,539,235 S72I probably damaging Het
Fut1 T C 7: 45,619,527 C302R probably damaging Het
Gm6401 T C 14: 41,964,658 T184A possibly damaging Het
Gsdma2 C T 11: 98,652,002 T29I probably damaging Het
Lgi2 C A 5: 52,563,965 probably null Het
Lipe A G 7: 25,380,755 L926P probably damaging Het
Lrp1 T A 10: 127,559,124 I2511F probably benign Het
Med10 T C 13: 69,815,697 probably benign Het
Nbea A G 3: 56,085,304 S294P probably damaging Het
Neb T A 2: 52,271,312 H2156L probably benign Het
Neo1 A T 9: 58,978,668 N335K probably damaging Het
Nox3 G T 17: 3,665,844 Q429K probably benign Het
Pkd1l1 T C 11: 8,855,564 R1671G probably damaging Het
Plec T C 15: 76,189,303 T504A possibly damaging Het
Pou5f1 G T 17: 35,510,042 R127L probably benign Het
Prkdc T A 16: 15,705,310 probably benign Het
Rassf8 T A 6: 145,815,810 N287K probably benign Het
Rdh16 T C 10: 127,813,633 probably benign Het
Ryr1 G A 7: 29,083,486 A1901V possibly damaging Het
Scnn1g A G 7: 121,746,683 Y343C probably damaging Het
Sema5a A G 15: 32,538,734 probably benign Het
Slc9b2 G A 3: 135,329,030 V310M probably damaging Het
Stox2 T A 8: 47,193,187 I477F possibly damaging Het
Terb1 A T 8: 104,469,154 H548Q probably benign Het
Tsks G A 7: 44,957,895 M547I possibly damaging Het
Ttc25 T A 11: 100,550,250 Y102* probably null Het
Tuba8 G A 6: 121,220,444 E22K probably damaging Het
Wee2 T C 6: 40,462,034 F364L probably benign Het
Zfp644 A G 5: 106,636,858 Y608H probably damaging Het
Other mutations in Babam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Babam2 APN 5 32007307 missense probably damaging 1.00
IGL01815:Babam2 APN 5 31702098 missense possibly damaging 0.90
IGL02869:Babam2 APN 5 32004772 missense possibly damaging 0.92
IGL03185:Babam2 APN 5 31702032 missense possibly damaging 0.60
R1817:Babam2 UTSW 5 32057546 missense probably damaging 0.99
R4012:Babam2 UTSW 5 32001438 missense probably damaging 1.00
R4257:Babam2 UTSW 5 31702070 missense possibly damaging 0.76
R4522:Babam2 UTSW 5 32007242 missense probably damaging 1.00
R4622:Babam2 UTSW 5 32007312 missense probably damaging 0.99
R4738:Babam2 UTSW 5 31901142 missense probably damaging 0.99
R4752:Babam2 UTSW 5 31702047 intron probably benign
R4927:Babam2 UTSW 5 31702064 missense probably benign 0.00
R4962:Babam2 UTSW 5 31785583 missense possibly damaging 0.75
R5374:Babam2 UTSW 5 32007230 splice site probably benign
R5375:Babam2 UTSW 5 31701863 missense possibly damaging 0.52
R5453:Babam2 UTSW 5 32007246 missense probably damaging 1.00
R5890:Babam2 UTSW 5 32064807 intron probably benign
R5915:Babam2 UTSW 5 31785611 missense probably damaging 1.00
R5982:Babam2 UTSW 5 31820620 missense possibly damaging 0.86
R6271:Babam2 UTSW 5 32001362 missense probably damaging 1.00
R7268:Babam2 UTSW 5 31701853 missense probably damaging 1.00
R7352:Babam2 UTSW 5 32007250 nonsense probably null
Posted On2016-08-02