Incidental Mutation 'R6271:Babam2'
ID 507327
Institutional Source Beutler Lab
Gene Symbol Babam2
Ensembl Gene ENSMUSG00000052139
Gene Name BRISC and BRCA1 A complex member 2
Synonyms B830038C02Rik, 6030405P19Rik, Bre
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 31855394-32242083 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32158706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 219 (A219S)
Ref Sequence ENSEMBL: ENSMUSP00000071462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063813] [ENSMUST00000071531] [ENSMUST00000114507] [ENSMUST00000114515] [ENSMUST00000131995] [ENSMUST00000200705] [ENSMUST00000201352]
AlphaFold Q8K3W0
Predicted Effect probably damaging
Transcript: ENSMUST00000063813
AA Change: A265S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139
AA Change: A265S

DomainStartEndE-ValueType
Pfam:BRE 70 370 3.4e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071531
AA Change: A219S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071462
Gene: ENSMUSG00000052139
AA Change: A219S

DomainStartEndE-ValueType
Pfam:BRE 28 324 2.2e-204 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114507
AA Change: A164S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110152
Gene: ENSMUSG00000052139
AA Change: A164S

DomainStartEndE-ValueType
Pfam:BRE 3 269 9.5e-182 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114515
AA Change: A228S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110160
Gene: ENSMUSG00000052139
AA Change: A228S

DomainStartEndE-ValueType
Pfam:BRE 1 333 4.9e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131995
AA Change: A90S

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128351
Gene: ENSMUSG00000052139
AA Change: A90S

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 probably damaging
Transcript: ENSMUST00000201352
AA Change: A228S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139
AA Change: A228S

DomainStartEndE-ValueType
Pfam:BRE 8 333 8.1e-146 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201542
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign Het
Other mutations in Babam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Babam2 APN 5 32,164,651 (GRCm39) missense probably damaging 1.00
IGL01815:Babam2 APN 5 31,859,442 (GRCm39) missense possibly damaging 0.90
IGL02869:Babam2 APN 5 32,162,116 (GRCm39) missense possibly damaging 0.92
IGL03091:Babam2 APN 5 31,943,022 (GRCm39) splice site probably null
IGL03185:Babam2 APN 5 31,859,376 (GRCm39) missense possibly damaging 0.60
R1817:Babam2 UTSW 5 32,214,890 (GRCm39) missense probably damaging 0.99
R4012:Babam2 UTSW 5 32,158,782 (GRCm39) missense probably damaging 1.00
R4257:Babam2 UTSW 5 31,859,414 (GRCm39) missense possibly damaging 0.76
R4522:Babam2 UTSW 5 32,164,586 (GRCm39) missense probably damaging 1.00
R4622:Babam2 UTSW 5 32,164,656 (GRCm39) missense probably damaging 0.99
R4738:Babam2 UTSW 5 32,058,486 (GRCm39) missense probably damaging 0.99
R4752:Babam2 UTSW 5 31,859,391 (GRCm39) intron probably benign
R4927:Babam2 UTSW 5 31,859,408 (GRCm39) missense probably benign 0.00
R4962:Babam2 UTSW 5 31,942,927 (GRCm39) missense possibly damaging 0.75
R5374:Babam2 UTSW 5 32,164,574 (GRCm39) splice site probably benign
R5375:Babam2 UTSW 5 31,859,207 (GRCm39) missense possibly damaging 0.52
R5453:Babam2 UTSW 5 32,164,590 (GRCm39) missense probably damaging 1.00
R5890:Babam2 UTSW 5 32,222,151 (GRCm39) intron probably benign
R5915:Babam2 UTSW 5 31,942,955 (GRCm39) missense probably damaging 1.00
R5982:Babam2 UTSW 5 31,977,964 (GRCm39) missense possibly damaging 0.86
R7268:Babam2 UTSW 5 31,859,197 (GRCm39) missense probably damaging 1.00
R7352:Babam2 UTSW 5 32,164,594 (GRCm39) nonsense probably null
R7422:Babam2 UTSW 5 31,888,393 (GRCm39) splice site probably null
R9182:Babam2 UTSW 5 32,058,401 (GRCm39) missense possibly damaging 0.76
R9336:Babam2 UTSW 5 31,859,194 (GRCm39) start codon destroyed possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- ACTGCTGTGTGATACCATCTTGAG -3'
(R):5'- GGCACACAAACCATGAGCTG -3'

Sequencing Primer
(F):5'- CTGTGTGATACCATCTTGAGTTGTTC -3'
(R):5'- CTGACAGCTGTTGCAGGGTAC -3'
Posted On 2018-03-15