Incidental Mutation 'R4257:Babam2'
ID 321856
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 041070-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # R4257 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 31855394-32242083 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31859414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 40 (S40P)
Ref Sequence ENSEMBL: ENSMUSP00000069133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031018] [ENSMUST00000063813] [ENSMUST00000071531] [ENSMUST00000114507] [ENSMUST00000114515] [ENSMUST00000131995] [ENSMUST00000200705] [ENSMUST00000201352] [ENSMUST00000202293] [ENSMUST00000202815]
AlphaFold Q8K3W0
Predicted Effect probably benign
Transcript: ENSMUST00000031018
SMART Domains Protein: ENSMUSP00000031018
Gene: ENSMUSG00000029136

DomainStartEndE-ValueType
Pfam:PfkB 16 315 2.1e-66 PFAM
Pfam:Phos_pyr_kin 166 306 9.6e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000063813
AA Change: S40P

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139
AA Change: S40P

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

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

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

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

DomainStartEndE-ValueType
Pfam:BRE 1 195 4.3e-131 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202033
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 benign
Transcript: ENSMUST00000201352
SMART Domains Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139

DomainStartEndE-ValueType
Pfam:BRE 8 333 8.1e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202293
Predicted Effect probably benign
Transcript: ENSMUST00000202815
SMART Domains Protein: ENSMUSP00000144497
Gene: ENSMUSG00000052139

DomainStartEndE-ValueType
Pfam:BRE 8 63 1.2e-14 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik C T 7: 126,430,662 (GRCm39) probably benign Het
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Akap13 T A 7: 75,261,033 (GRCm39) I1219K probably damaging Het
Arfgef1 T C 1: 10,229,771 (GRCm39) probably benign Het
Arhgap24 A G 5: 102,811,983 (GRCm39) E70G probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Brwd1 A G 16: 95,824,696 (GRCm39) V1190A probably damaging Het
Ccpg1 A G 9: 72,919,909 (GRCm39) E508G probably damaging Het
Ckm T C 7: 19,155,279 (GRCm39) S372P probably benign Het
Egflam T A 15: 7,283,907 (GRCm39) probably null Het
Farp1 G A 14: 121,492,891 (GRCm39) V498M probably benign Het
Galnt14 T A 17: 73,811,899 (GRCm39) I441F probably benign Het
Gm5414 A G 15: 101,533,107 (GRCm39) L440P probably damaging Het
Gm6563 A G 19: 23,653,339 (GRCm39) E43G possibly damaging Het
Gm9755 A T 8: 67,967,129 (GRCm39) noncoding transcript Het
Gmds A G 13: 32,004,172 (GRCm39) S337P possibly damaging Het
L3mbtl3 T A 10: 26,156,020 (GRCm39) Q754L unknown Het
Ltk G A 2: 119,583,485 (GRCm39) T300I possibly damaging Het
Or5d46 A C 2: 88,170,621 (GRCm39) K237N probably damaging Het
Pbx2 C A 17: 34,813,619 (GRCm39) H184Q probably damaging Het
Plxna2 T C 1: 194,327,083 (GRCm39) F339S probably damaging Het
Prkaa2 A T 4: 104,897,153 (GRCm39) D353E probably benign Het
Prss36 G A 7: 127,532,010 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,851,324 (GRCm39) V874A probably damaging Het
Rspo2 C A 15: 42,939,307 (GRCm39) R161L probably benign Het
Ryr1 T C 7: 28,781,875 (GRCm39) D2038G possibly damaging Het
Stkld1 A G 2: 26,833,146 (GRCm39) M111V probably benign Het
Tprn A G 2: 25,154,494 (GRCm39) I599V probably damaging Het
Upp2 A T 2: 58,670,106 (GRCm39) I219F probably damaging Het
Vmn2r94 A T 17: 18,464,433 (GRCm39) F619Y probably damaging Het
Xirp2 A G 2: 67,346,383 (GRCm39) T2875A probably benign Het
Zfp64 A G 2: 168,768,298 (GRCm39) L438P probably damaging 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
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
R6271:Babam2 UTSW 5 32,158,706 (GRCm39) missense probably damaging 1.00
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'- TTGAACCGAATTTCTCCAATGC -3'
(R):5'- GGCGCATGCTCTTGTGAAAC -3'

Sequencing Primer
(F):5'- AATGCTCTCCCCATTCATATCAAG -3'
(R):5'- TTGTGAAACAAGAAGCAAAACATGTC -3'
Posted On 2015-06-20