Incidental Mutation 'IGL02869:Babam2'
ID 362465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Babam2
Ensembl Gene ENSMUSG00000052139
Gene Name BRISC and BRCA1 A complex member 2
Synonyms B830038C02Rik, 6030405P19Rik, Bre
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # IGL02869
Quality Score
Status
Chromosome 5
Chromosomal Location 31855394-32242083 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32162116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 272 (H272Q)
Ref Sequence ENSEMBL: ENSMUSP00000071462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063813] [ENSMUST00000071531] [ENSMUST00000114507] [ENSMUST00000114515] [ENSMUST00000131995] [ENSMUST00000200705] [ENSMUST00000201352]
AlphaFold Q8K3W0
Predicted Effect possibly damaging
Transcript: ENSMUST00000063813
AA Change: H318Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069133
Gene: ENSMUSG00000052139
AA Change: H318Q

DomainStartEndE-ValueType
Pfam:BRE 70 370 3.4e-133 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000071531
AA Change: H272Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071462
Gene: ENSMUSG00000052139
AA Change: H272Q

DomainStartEndE-ValueType
Pfam:BRE 28 324 2.2e-204 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114507
AA Change: H217Q

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110152
Gene: ENSMUSG00000052139
AA Change: H217Q

DomainStartEndE-ValueType
Pfam:BRE 3 269 9.5e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114515
AA Change: H281Q

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110160
Gene: ENSMUSG00000052139
AA Change: H281Q

DomainStartEndE-ValueType
Pfam:BRE 1 333 4.9e-235 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131995
AA Change: H143Q

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128351
Gene: ENSMUSG00000052139
AA Change: H143Q

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 probably benign
Transcript: ENSMUST00000201352
AA Change: H281Q

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000144205
Gene: ENSMUSG00000052139
AA Change: H281Q

DomainStartEndE-ValueType
Pfam:BRE 8 333 8.1e-146 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201542
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,685,323 (GRCm39) S1142T possibly damaging Het
Aadacl4fm5 T C 4: 144,512,938 (GRCm39) I54V probably benign Het
Actr3b T G 5: 26,037,433 (GRCm39) V215G probably damaging Het
Adam9 C T 8: 25,460,634 (GRCm39) V617M probably damaging Het
Adgrl2 G T 3: 148,596,241 (GRCm39) P32T probably damaging Het
Afg2a G T 3: 37,518,694 (GRCm39) G743W probably damaging Het
Ago3 A T 4: 126,261,580 (GRCm39) probably benign Het
Allc A C 12: 28,623,206 (GRCm39) I20M probably benign Het
Asic3 G A 5: 24,621,972 (GRCm39) W361* probably null Het
Atf7ip A G 6: 136,583,577 (GRCm39) K1203E probably damaging Het
Baz2b G A 2: 59,807,872 (GRCm39) T129I probably benign Het
C130073F10Rik A T 4: 101,747,590 (GRCm39) Y146* probably null Het
Cd247 A G 1: 165,684,986 (GRCm39) E74G probably damaging Het
Cdh17 A T 4: 11,814,908 (GRCm39) Q778L probably benign Het
Ceacam1 T C 7: 25,175,966 (GRCm39) D76G probably benign Het
Cela3a T C 4: 137,131,145 (GRCm39) K198E probably benign Het
Cemip2 T A 19: 21,789,241 (GRCm39) D558E probably damaging Het
Ces2a T A 8: 105,465,691 (GRCm39) D281E probably damaging Het
Cetn2 A T X: 71,958,527 (GRCm39) D116E probably damaging Het
Cracd A G 5: 77,006,890 (GRCm39) K1084E unknown Het
Ctu2 G T 8: 123,205,530 (GRCm39) probably null Het
Cybb T C X: 9,308,828 (GRCm39) N469D probably benign Het
Cygb C T 11: 116,540,749 (GRCm39) R79Q probably damaging Het
Cyp2d10 C T 15: 82,288,069 (GRCm39) V186M possibly damaging Het
Defb29 T A 2: 152,380,942 (GRCm39) probably null Het
Depdc7 T G 2: 104,560,694 (GRCm39) Q100P probably damaging Het
Dhx30 A C 9: 109,926,251 (GRCm39) I91R probably damaging Het
Dnm1l T A 16: 16,159,288 (GRCm39) K105* probably null Het
Eddm13 T C 7: 6,272,898 (GRCm39) probably benign Het
Efhc1 T C 1: 21,037,567 (GRCm39) I248T probably damaging Het
Elapor1 A G 3: 108,380,182 (GRCm39) I309T probably benign Het
Entpd2 A G 2: 25,288,120 (GRCm39) T115A probably damaging Het
Epb42 G T 2: 120,856,227 (GRCm39) A439E probably benign Het
Esm1 T G 13: 113,346,618 (GRCm39) L81R probably damaging Het
F8 T C X: 74,330,987 (GRCm39) S968G probably benign Het
Fam234b T G 6: 135,202,201 (GRCm39) Y308D probably damaging Het
Fbxo46 T G 7: 18,871,139 (GRCm39) V586G probably damaging Het
Foxp1 C A 6: 98,907,044 (GRCm39) probably benign Het
Gm10754 A T 10: 97,518,136 (GRCm39) probably benign Het
Gm12695 A C 4: 96,650,370 (GRCm39) probably benign Het
Gm5468 T C 15: 25,414,726 (GRCm39) probably benign Het
Grhl1 T C 12: 24,631,490 (GRCm39) S66P probably damaging Het
Gstt3 A T 10: 75,612,576 (GRCm39) probably null Het
Gtf2i A G 5: 134,308,281 (GRCm39) probably benign Het
Gzmk C A 13: 113,308,560 (GRCm39) G175C probably damaging Het
Helz2 T C 2: 180,872,939 (GRCm39) probably benign Het
Ift20 T C 11: 78,430,780 (GRCm39) probably benign Het
Intu A G 3: 40,642,216 (GRCm39) D491G probably damaging Het
Itch G T 2: 155,015,853 (GRCm39) probably null Het
Itgb5 A G 16: 33,665,362 (GRCm39) N26S possibly damaging Het
Lama2 A T 10: 26,891,534 (GRCm39) S2526R probably damaging Het
Lat2 A G 5: 134,637,027 (GRCm39) I40T probably damaging Het
Lipa T A 19: 34,471,397 (GRCm39) M393L probably benign Het
Lipa G T 19: 34,471,371 (GRCm39) probably benign Het
Lpcat1 T A 13: 73,632,417 (GRCm39) L10H probably damaging Het
Lpcat3 T C 6: 124,679,970 (GRCm39) Y348H possibly damaging Het
Lrp1b A T 2: 40,591,842 (GRCm39) N50K unknown Het
Lrrk2 T A 15: 91,634,480 (GRCm39) Y1415N probably damaging Het
Lsamp A T 16: 41,965,078 (GRCm39) T312S probably benign Het
Man2a2 T C 7: 80,013,689 (GRCm39) E454G probably benign Het
Mcm3 T C 1: 20,879,063 (GRCm39) K570R probably damaging Het
Mctp2 C A 7: 71,878,219 (GRCm39) probably null Het
Msantd2 T G 9: 37,434,796 (GRCm39) C345W probably damaging Het
Musk T C 4: 58,354,078 (GRCm39) I362T probably benign Het
Myh15 A T 16: 48,965,767 (GRCm39) N1224I probably benign Het
Myo18a A G 11: 77,755,612 (GRCm39) Y1983C probably damaging Het
Myo18a C T 11: 77,720,699 (GRCm39) probably benign Het
Myrfl G T 10: 116,664,909 (GRCm39) Q374K probably damaging Het
Ndrg1 T A 15: 66,818,346 (GRCm39) Q87H probably benign Het
Nol9 G A 4: 152,131,030 (GRCm39) C351Y probably damaging Het
Nr5a1 A G 2: 38,598,141 (GRCm39) S219P probably benign Het
Or8b43 T C 9: 38,360,489 (GRCm39) F107S possibly damaging Het
Or8g28 A T 9: 39,169,520 (GRCm39) Y149* probably null Het
Pcdhb19 A G 18: 37,631,690 (GRCm39) D495G probably damaging Het
Pfkm A G 15: 98,026,123 (GRCm39) M573V probably damaging Het
Plec A T 15: 76,065,516 (GRCm39) L1586Q probably damaging Het
Prelp C A 1: 133,843,005 (GRCm39) E47* probably null Het
Rbm33 T A 5: 28,615,753 (GRCm39) I32N probably damaging Het
Rgs12 A T 5: 35,183,227 (GRCm39) D310V probably damaging Het
Ripor2 A C 13: 24,880,512 (GRCm39) H404P possibly damaging Het
Sh3d21 T C 4: 126,056,034 (GRCm39) E124G probably benign Het
Shroom2 C T X: 151,442,549 (GRCm39) S872N probably benign Het
Slc44a5 A G 3: 153,956,651 (GRCm39) Y301C probably damaging Het
Smap1 A T 1: 23,930,995 (GRCm39) H66Q possibly damaging Het
Smyd1 G T 6: 71,198,007 (GRCm39) probably benign Het
Sptbn4 T A 7: 27,093,573 (GRCm39) probably benign Het
Srsf3-ps T A 11: 98,516,146 (GRCm39) R76* probably null Het
Stag3 A G 5: 138,280,955 (GRCm39) K49R probably damaging Het
Stim1 C A 7: 101,917,758 (GRCm39) A46E unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tbc1d19 A G 5: 53,992,559 (GRCm39) T114A probably benign Het
Tln2 G A 9: 67,128,807 (GRCm39) probably benign Het
Trmt10a T A 3: 137,857,945 (GRCm39) probably null Het
Vwde G A 6: 13,187,136 (GRCm39) H784Y probably damaging Het
Zfp773 T C 7: 7,137,232 (GRCm39) T121A 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
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
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
Posted On 2015-12-18