Incidental Mutation 'R7012:Birc5'
ID 545091
Institutional Source Beutler Lab
Gene Symbol Birc5
Ensembl Gene ENSMUSG00000017716
Gene Name baculoviral IAP repeat-containing 5
Synonyms survivin, TIAP, Api4
MMRRC Submission 045113-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7012 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 117740077-117746569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117740262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 29 (E29G)
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 probably benign
Transcript: ENSMUST00000081387
AA Change: E29G

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000079124
Gene: ENSMUSG00000017716
AA Change: E29G

DomainStartEndE-ValueType
BIR 13 89 1.2e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093906
AA Change: E29G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000091433
Gene: ENSMUSG00000017716
AA Change: E29G

DomainStartEndE-ValueType
BIR 13 89 1.2e-35 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,769,431 (GRCm39) F686L probably benign Het
Adcy4 C T 14: 56,017,376 (GRCm39) V266I possibly damaging Het
Adgrb1 A G 15: 74,401,750 (GRCm39) T249A probably damaging Het
Adss1 A G 12: 112,600,670 (GRCm39) D213G probably benign Het
Ap1b1 T G 11: 4,980,963 (GRCm39) V453G probably damaging Het
Apold1 G A 6: 134,961,007 (GRCm39) G154R probably damaging Het
Clcn1 G A 6: 42,267,542 (GRCm39) R75H probably benign Het
Cngb1 T A 8: 95,984,583 (GRCm39) I868F possibly damaging Het
Cntn6 T A 6: 104,703,223 (GRCm39) V215E probably damaging Het
Cntn6 A G 6: 104,751,441 (GRCm39) I294V probably benign Het
Col6a2 A T 10: 76,450,511 (GRCm39) I140N possibly damaging Het
Cops5 A G 1: 10,100,890 (GRCm39) *147Q probably null Het
Dbr1 T A 9: 99,465,374 (GRCm39) Y317* probably null Het
Dock5 A C 14: 68,060,035 (GRCm39) V468G probably damaging Het
F13b A G 1: 139,444,096 (GRCm39) I477V probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Git1 T C 11: 77,390,606 (GRCm39) L114P probably damaging Het
Greb1l G T 18: 10,529,707 (GRCm39) probably null Het
Itih4 A G 14: 30,612,706 (GRCm39) N244S probably benign Het
Lin28a A G 4: 133,746,040 (GRCm39) S5P probably damaging Het
Lipt1 T C 1: 37,915,060 (GRCm39) I372T probably benign Het
Lysmd4 A G 7: 66,875,765 (GRCm39) T143A probably benign Het
Muc16 T C 9: 18,406,914 (GRCm39) probably null Het
Or13c9 A G 4: 52,936,193 (GRCm39) L30P probably damaging Het
Or2y1g A T 11: 49,171,823 (GRCm39) M283L probably benign Het
Or5t16 A T 2: 86,819,051 (GRCm39) H156Q possibly damaging Het
Or6e1 A G 14: 54,519,674 (GRCm39) I226T possibly damaging Het
Pclo G A 5: 14,800,493 (GRCm39) G4438D unknown Het
Phlpp2 T A 8: 110,603,486 (GRCm39) F51I possibly damaging Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rxfp2 T C 5: 150,004,659 (GRCm39) V711A probably benign Het
Sbno2 A T 10: 79,905,352 (GRCm39) probably benign Het
Setd2 T A 9: 110,376,751 (GRCm39) S189T probably damaging Het
Sez6 A G 11: 77,868,621 (GRCm39) N965S probably benign Het
Sh3d19 A G 3: 85,992,320 (GRCm39) N116S probably benign Het
Slc43a3 T C 2: 84,777,313 (GRCm39) Y221H probably damaging Het
Slco1a6 T C 6: 142,032,287 (GRCm39) I613V probably benign Het
Stag3 T A 5: 138,295,871 (GRCm39) probably null Het
Ston1 T C 17: 88,943,413 (GRCm39) M273T probably damaging Het
Tbc1d32 A T 10: 56,100,820 (GRCm39) Y53N probably damaging Het
Tmem132b T A 5: 125,775,654 (GRCm39) L376Q probably damaging Het
Trim60 A G 8: 65,453,043 (GRCm39) V402A possibly damaging Het
Tssk5 A C 15: 76,257,745 (GRCm39) N178K probably damaging Het
Ttll9 T C 2: 152,844,982 (GRCm39) I450T possibly damaging Het
Tyw1 T G 5: 130,306,571 (GRCm39) probably null Het
Usp16 T C 16: 87,255,632 (GRCm39) probably null Het
Vmn2r97 T C 17: 19,167,756 (GRCm39) V670A probably damaging Het
Vmn2r98 A G 17: 19,286,530 (GRCm39) N343D probably benign Het
Zfp472 T G 17: 33,196,220 (GRCm39) N98K probably benign Het
Other mutations in Birc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5473:Birc5 UTSW 11 117,743,533 (GRCm39) missense possibly damaging 0.49
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'- AGGTACAACTCCCAGCATGC -3'
(R):5'- GCTAACAGTGGTTCAGGCAG -3'

Sequencing Primer
(F):5'- GTCCACTCCCAGAAGGCAG -3'
(R):5'- GGTCACACAACTAAGGCA -3'
Posted On 2019-05-13