Incidental Mutation 'R1597:Birc7'
ID 175851
Institutional Source Beutler Lab
Gene Symbol Birc7
Ensembl Gene ENSMUSG00000038840
Gene Name baculoviral IAP repeat-containing 7
Synonyms ML-IAP, Livin, KIAP
MMRRC Submission 039634-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R1597 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 180570816-180575803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180570974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 12 (V12A)
Ref Sequence ENSEMBL: ENSMUSP00000104503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108875]
AlphaFold A2AWP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000108875
AA Change: V12A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104503
Gene: ENSMUSG00000038840
AA Change: V12A

DomainStartEndE-ValueType
BIR 91 162 1.41e-32 SMART
low complexity region 227 238 N/A INTRINSIC
RING 239 272 1.65e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137859
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 A T 19: 34,229,983 (GRCm39) probably benign Het
Afap1l2 T C 19: 56,902,881 (GRCm39) N748S probably benign Het
Aox1 T A 1: 58,086,326 (GRCm39) I77N probably damaging Het
Ap1s1 A T 5: 137,072,095 (GRCm39) M20K probably damaging Het
Atad3a A T 4: 155,835,892 (GRCm39) probably null Het
Atp1b1 G T 1: 164,265,889 (GRCm39) R291S probably damaging Het
Btnl2 T C 17: 34,582,211 (GRCm39) V259A probably damaging Het
Cdh11 A T 8: 103,377,343 (GRCm39) N434K probably benign Het
Cel G T 2: 28,450,479 (GRCm39) probably benign Het
Col10a1 A G 10: 34,271,074 (GRCm39) K349E probably damaging Het
Ddhd2 A G 8: 26,239,768 (GRCm39) V315A probably benign Het
Dnah17 C A 11: 117,994,324 (GRCm39) probably benign Het
Dock2 T C 11: 34,595,474 (GRCm39) T441A probably benign Het
Ermap A T 4: 119,041,152 (GRCm39) I286N probably damaging Het
Fbxl17 T C 17: 63,794,813 (GRCm39) K423R probably damaging Het
Frem2 T C 3: 53,561,940 (GRCm39) T856A probably benign Het
Gas6 T C 8: 13,543,901 (GRCm39) E64G probably damaging Het
Gzma T A 13: 113,232,331 (GRCm39) N190I probably damaging Het
Ifngr1 C T 10: 19,485,090 (GRCm39) T363M probably damaging Het
Itga7 A G 10: 128,782,732 (GRCm39) T690A probably benign Het
Kif15 A G 9: 122,823,074 (GRCm39) E485G probably benign Het
Kif18a A G 2: 109,123,336 (GRCm39) I203M probably damaging Het
Klhl1 A T 14: 96,438,647 (GRCm39) probably null Het
Lrch3 C T 16: 32,770,781 (GRCm39) Q128* probably null Het
Lrriq4 C G 3: 30,705,037 (GRCm39) P355R probably damaging Het
Mcm10 A T 2: 5,003,563 (GRCm39) H551Q probably damaging Het
Mcm3ap T C 10: 76,319,060 (GRCm39) F763L probably damaging Het
Mdc1 T A 17: 36,156,758 (GRCm39) V55E probably damaging Het
Me2 A T 18: 73,931,016 (GRCm39) N92K probably damaging Het
Mtss1 A G 15: 58,815,560 (GRCm39) S667P probably damaging Het
Mup5 A T 4: 61,753,317 (GRCm39) Y15N possibly damaging Het
Mx1 T A 16: 97,256,329 (GRCm39) M197L probably damaging Het
N4bp2 C T 5: 65,964,483 (GRCm39) T844I probably benign Het
Nlrc3 T A 16: 3,781,859 (GRCm39) R517W probably damaging Het
Nos3 A T 5: 24,573,995 (GRCm39) I227F probably damaging Het
Or52a5 A G 7: 103,427,267 (GRCm39) F95S probably benign Het
Pabpc2 A G 18: 39,906,953 (GRCm39) N73D probably damaging Het
Pcdhb18 A G 18: 37,624,820 (GRCm39) R717G probably benign Het
Pcsk5 T A 19: 17,413,964 (GRCm39) M1702L probably benign Het
Plxna2 A C 1: 194,431,614 (GRCm39) probably benign Het
Polr2a A G 11: 69,630,755 (GRCm39) M1221T possibly damaging Het
Polr2b A G 5: 77,473,948 (GRCm39) D384G probably damaging Het
Ppl T A 16: 4,925,438 (GRCm39) H67L probably benign Het
Psmd5 A G 2: 34,757,035 (GRCm39) L63S probably damaging Het
Psme1 A G 14: 55,818,222 (GRCm39) T150A probably damaging Het
Rapgef5 C T 12: 117,621,940 (GRCm39) R33C probably damaging Het
Rela G A 19: 5,695,359 (GRCm39) R295H probably damaging Het
Rpe65 T A 3: 159,320,421 (GRCm39) V326E probably damaging Het
Scn5a C A 9: 119,391,563 (GRCm39) R43L probably damaging Het
Skida1 T C 2: 18,051,143 (GRCm39) probably benign Het
Slc4a4 G A 5: 89,283,587 (GRCm39) A469T probably benign Het
Spaca7 G T 8: 12,630,991 (GRCm39) E48* probably null Het
Syn3 G T 10: 85,970,908 (GRCm39) T238K probably benign Het
Taok1 A G 11: 77,470,626 (GRCm39) S60P probably benign Het
Tecpr1 A G 5: 144,151,128 (GRCm39) I256T probably benign Het
Tenm4 T A 7: 96,552,196 (GRCm39) probably null Het
Tex15 A G 8: 34,061,511 (GRCm39) T588A probably damaging Het
Tgfbi T A 13: 56,780,004 (GRCm39) probably benign Het
Tmem62 G A 2: 120,814,843 (GRCm39) A169T probably benign Het
Tnc A G 4: 63,924,621 (GRCm39) S1026P probably benign Het
Tnik T C 3: 28,658,418 (GRCm39) S568P probably damaging Het
Trpm6 A T 19: 18,804,888 (GRCm39) I947F probably damaging Het
Ttc27 T A 17: 75,170,402 (GRCm39) L832Q possibly damaging Het
U2surp C T 9: 95,363,793 (GRCm39) probably benign Het
Ube4a A T 9: 44,841,064 (GRCm39) D1009E possibly damaging Het
Unc13d T C 11: 115,965,262 (GRCm39) E192G probably benign Het
Vmn2r71 T C 7: 85,273,352 (GRCm39) V722A possibly damaging Het
Zfp386 T C 12: 116,023,709 (GRCm39) S476P probably damaging Het
Zfp644 A T 5: 106,786,199 (GRCm39) V116D probably damaging Het
Zfyve16 T A 13: 92,644,755 (GRCm39) N1149I probably benign Het
Other mutations in Birc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02092:Birc7 APN 2 180,574,979 (GRCm39) missense probably benign 0.09
PIT4514001:Birc7 UTSW 2 180,573,099 (GRCm39) missense possibly damaging 0.96
R0427:Birc7 UTSW 2 180,571,307 (GRCm39) critical splice donor site probably null
R0626:Birc7 UTSW 2 180,573,098 (GRCm39) missense probably benign 0.01
R2115:Birc7 UTSW 2 180,572,642 (GRCm39) missense possibly damaging 0.94
R5557:Birc7 UTSW 2 180,574,772 (GRCm39) missense probably benign 0.00
R5594:Birc7 UTSW 2 180,575,129 (GRCm39) critical splice donor site probably null
R6325:Birc7 UTSW 2 180,571,243 (GRCm39) missense probably benign 0.00
R7459:Birc7 UTSW 2 180,571,150 (GRCm39) missense possibly damaging 0.74
R7947:Birc7 UTSW 2 180,575,103 (GRCm39) missense probably damaging 0.99
R8886:Birc7 UTSW 2 180,574,786 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CTCAGAAAGTGGCTCATTCCTGGAC -3'
(R):5'- ACCCCAACATTTACCTGTGTGGAAG -3'

Sequencing Primer
(F):5'- TTCCTGGACACCGCCAC -3'
(R):5'- TTACCTGTGTGGAAGAACCC -3'
Posted On 2014-04-24