Incidental Mutation 'R5473:Birc5'
ID 433942
Institutional Source Beutler Lab
Gene Symbol Birc5
Ensembl Gene ENSMUSG00000017716
Gene Name baculoviral IAP repeat-containing 5
Synonyms survivin, TIAP, Api4
MMRRC Submission 043034-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5473 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 117740077-117746569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117743533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 89 (V89A)
Ref Sequence ENSEMBL: ENSMUSP00000079124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081387] [ENSMUST00000093906]
AlphaFold O70201
PDB Structure Mouse Survivin [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081387
AA Change: V89A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079124
Gene: ENSMUSG00000017716
AA Change: V89A

DomainStartEndE-ValueType
BIR 13 89 1.2e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093906
AA Change: V89A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000091433
Gene: ENSMUSG00000017716
AA Change: V89A

DomainStartEndE-ValueType
BIR 13 89 1.2e-35 SMART
Meta Mutation Damage Score 0.0906 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. In humans, gene expression is high during fetal development and in most tumors yet low in adult tissues. Antisense transcripts have been identified in human that regulate this gene's expression. At least three transcript variants encoding distinct isoforms have been found for this gene, although at least one of these transcript variants is a nonsense-mediated decay (NMD) candidate. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die during early embryonic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T C 7: 119,312,173 (GRCm39) Y549H probably damaging Het
Adamtsl4 G T 3: 95,587,303 (GRCm39) Q758K probably damaging Het
Anapc1 G T 2: 128,449,115 (GRCm39) probably benign Het
Ankrd26 A T 6: 118,492,797 (GRCm39) C1316S probably benign Het
Camk2d G T 3: 126,391,048 (GRCm39) probably benign Het
Ccdc47 A T 11: 106,095,855 (GRCm39) S280R probably damaging Het
Cntnap5a T A 1: 116,016,986 (GRCm39) F193Y probably benign Het
Cntrob G T 11: 69,213,579 (GRCm39) D70E possibly damaging Het
Col24a1 A C 3: 145,243,016 (GRCm39) M1519L probably benign Het
Col2a1 G T 15: 97,885,370 (GRCm39) A491D unknown Het
Crat A G 2: 30,297,726 (GRCm39) L266P probably damaging Het
Dlgap1 A T 17: 70,824,025 (GRCm39) probably benign Het
Dnaaf10 T C 11: 17,174,591 (GRCm39) V153A probably damaging Het
Eya4 T A 10: 23,039,351 (GRCm39) H104L probably benign Het
Fam83b T C 9: 76,398,782 (GRCm39) K774E probably damaging Het
Fgd6 T C 10: 93,880,538 (GRCm39) I464T probably benign Het
Gorasp2 A C 2: 70,508,950 (GRCm39) M123L probably damaging Het
H2-M10.3 A T 17: 36,678,261 (GRCm39) V188E probably damaging Het
Hnrnpk A T 13: 58,541,913 (GRCm39) W333R probably damaging Het
Hrh4 T C 18: 13,154,985 (GRCm39) Y175H probably benign Het
Igf2r G T 17: 12,914,201 (GRCm39) T1756K probably benign Het
Kcnq5 A G 1: 21,527,626 (GRCm39) probably null Het
Kiz G T 2: 146,811,915 (GRCm39) E675* probably null Het
Mcm3ap T G 10: 76,338,593 (GRCm39) L1407R probably damaging Het
Mdc1 A G 17: 36,158,952 (GRCm39) D444G probably benign Het
Myl3 C A 9: 110,597,026 (GRCm39) H129N probably damaging Het
Neo1 T C 9: 58,788,126 (GRCm39) N1309S possibly damaging Het
Nrxn1 A T 17: 90,897,520 (GRCm39) Y269N probably damaging Het
Nsd1 A G 13: 55,395,585 (GRCm39) N1165S probably damaging Het
Nuf2 T C 1: 169,334,856 (GRCm39) D302G probably benign Het
Olfr908 A G 9: 38,427,508 (GRCm39) Y60C probably damaging Het
Or10j3 G C 1: 173,031,732 (GRCm39) G270R probably benign Het
Or14j1 T C 17: 38,146,630 (GRCm39) F247L probably benign Het
Or5d38 A T 2: 87,954,981 (GRCm39) M116K possibly damaging Het
Oxsm A T 14: 16,242,045 (GRCm38) S241R probably damaging Het
Pde1a G T 2: 79,736,372 (GRCm39) S87R probably damaging Het
Plagl2 A T 2: 153,074,114 (GRCm39) C262* probably null Het
Plcg2 A G 8: 118,361,140 (GRCm39) K1233R probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Ppfia1 A T 7: 144,045,229 (GRCm39) M951K probably benign Het
Pramel12 A G 4: 143,145,874 (GRCm39) R448G probably damaging Het
Prpf31 A G 7: 3,642,824 (GRCm39) K438E probably benign Het
Pum3 C A 19: 27,396,248 (GRCm39) V328F probably damaging Het
Ralgapa1 T C 12: 55,723,495 (GRCm39) E1677G probably benign Het
Rpf2 A G 10: 40,103,627 (GRCm39) V96A possibly damaging Het
Rsrc2 C T 5: 123,869,150 (GRCm39) A98T probably damaging Het
Saraf G A 8: 34,628,412 (GRCm39) R86Q probably damaging Het
Scara5 T A 14: 65,977,788 (GRCm39) D349E possibly damaging Het
Slc30a1 T C 1: 191,641,734 (GRCm39) V460A possibly damaging Het
Tdrd7 G T 4: 46,020,877 (GRCm39) V768L possibly damaging Het
Tshz2 T C 2: 169,725,718 (GRCm39) S105P probably benign Het
Ufsp2 A G 8: 46,445,258 (GRCm39) I362M probably damaging Het
Ugt1a7c T A 1: 88,023,159 (GRCm39) I106K probably benign Het
Zdhhc5 A G 2: 84,520,810 (GRCm39) Y456H probably damaging Het
Other mutations in Birc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7012:Birc5 UTSW 11 117,740,262 (GRCm39) missense probably benign 0.13
R7453:Birc5 UTSW 11 117,743,507 (GRCm39) missense probably damaging 0.99
R9169:Birc5 UTSW 11 117,743,599 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- ATGTTCCTAGGACATGTTTGAGC -3'
(R):5'- TCTGACAATGCTTGCCACTC -3'

Sequencing Primer
(F):5'- GAGCCTCAAATCTTGTCCTTGACAC -3'
(R):5'- ACAATGCTTGCCACTCAGGTG -3'
Posted On 2016-10-06