Incidental Mutation 'R1217:Siva1'
ID 99761
Institutional Source Beutler Lab
Gene Symbol Siva1
Ensembl Gene ENSMUSG00000064326
Gene Name SIVA1, apoptosis-inducing factor
Synonyms CD27bp
MMRRC Submission 039286-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1217 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112611262-112615586 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 112613355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 68 (Q68*)
Ref Sequence ENSEMBL: ENSMUSP00000021728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021728] [ENSMUST00000109755]
AlphaFold O54926
Predicted Effect probably null
Transcript: ENSMUST00000021728
AA Change: Q68*
SMART Domains Protein: ENSMUSP00000021728
Gene: ENSMUSG00000064326
AA Change: Q68*

DomainStartEndE-ValueType
Pfam:Siva 1 175 3.8e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109755
SMART Domains Protein: ENSMUSP00000105377
Gene: ENSMUSG00000064326

DomainStartEndE-ValueType
Pfam:Siva 1 45 1.2e-21 PFAM
Pfam:Siva 40 110 2.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222729
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.6%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an important role in the apoptotic (programmed cell death) pathway induced by the CD27 antigen, a member of the tumor necrosis factor receptor (TFNR) superfamily. The CD27 antigen cytoplasmic tail binds to the N-terminus of this protein. Two alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a A T 10: 75,169,049 (GRCm39) Y171F probably damaging Het
Agpat4 C T 17: 12,429,203 (GRCm39) R152W probably damaging Het
Aldh1a2 A G 9: 71,188,964 (GRCm39) N293D possibly damaging Het
Ash2l T C 8: 26,312,913 (GRCm39) N441S probably damaging Het
Asrgl1 A T 19: 9,093,864 (GRCm39) probably null Het
Capn3 C A 2: 120,316,902 (GRCm39) S277* probably null Het
Ccdc168 A T 1: 44,096,339 (GRCm39) S1586R possibly damaging Het
Ccp110 T C 7: 118,329,167 (GRCm39) probably benign Het
Cdh17 T C 4: 11,799,676 (GRCm39) V491A probably benign Het
Cep170b T C 12: 112,707,339 (GRCm39) S362P probably damaging Het
Cfap57 A G 4: 118,463,849 (GRCm39) S335P possibly damaging Het
Cmklr1 A T 5: 113,752,107 (GRCm39) L298Q probably damaging Het
Col4a4 A T 1: 82,466,730 (GRCm39) probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cyp2d26 A G 15: 82,677,068 (GRCm39) probably benign Het
Cyth3 T C 5: 143,688,575 (GRCm39) Y240H probably damaging Het
Dhx9 G A 1: 153,334,109 (GRCm39) T1017I probably damaging Het
Edar T C 10: 58,464,453 (GRCm39) Y62C probably damaging Het
Esyt3 C T 9: 99,200,097 (GRCm39) G699D possibly damaging Het
Fgb T C 3: 82,950,564 (GRCm39) T397A probably damaging Het
Foxc1 C A 13: 31,992,668 (GRCm39) A493E unknown Het
Grid1 T C 14: 34,542,186 (GRCm39) M1T probably null Het
Ipo4 T C 14: 55,871,816 (GRCm39) K113R probably damaging Het
Kif21b A G 1: 136,080,114 (GRCm39) E550G probably damaging Het
Krt1 T C 15: 101,757,416 (GRCm39) K265E possibly damaging Het
Lmx1a G A 1: 167,618,968 (GRCm39) R109H probably damaging Het
Mcm5 A G 8: 75,852,919 (GRCm39) K677R probably benign Het
Metap1 A T 3: 138,180,791 (GRCm39) L130* probably null Het
Mrgpra4 A G 7: 47,631,085 (GRCm39) L172P probably benign Het
Mylip G A 13: 45,560,178 (GRCm39) E205K probably damaging Het
Myo3b A C 2: 70,161,224 (GRCm39) E1128A probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nlrp4d T C 7: 10,098,194 (GRCm39) I823V probably benign Het
Odad1 C T 7: 45,592,182 (GRCm39) probably benign Het
Rec114 A T 9: 58,573,103 (GRCm39) probably benign Het
Rimbp2 C T 5: 128,865,351 (GRCm39) A666T probably benign Het
Slc22a27 T A 19: 7,904,033 (GRCm39) I35F probably benign Het
Slco1a5 T A 6: 142,200,100 (GRCm39) N228I probably damaging Het
St8sia4 G A 1: 95,581,464 (GRCm39) R93C probably damaging Het
Tprg1 T C 16: 25,231,593 (GRCm39) S190P probably damaging Het
Trpc6 A G 9: 8,658,287 (GRCm39) probably null Het
Vmn2r70 C T 7: 85,208,269 (GRCm39) C736Y probably damaging Het
Zfp629 C T 7: 127,211,916 (GRCm39) probably benign Het
Zswim4 A G 8: 84,946,601 (GRCm39) V685A possibly damaging Het
Other mutations in Siva1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2106:Siva1 UTSW 12 112,613,440 (GRCm39) missense probably damaging 0.99
R4622:Siva1 UTSW 12 112,611,501 (GRCm39) missense probably damaging 1.00
R4712:Siva1 UTSW 12 112,613,336 (GRCm39) missense probably benign 0.16
R4823:Siva1 UTSW 12 112,611,498 (GRCm39) missense probably damaging 0.98
R6589:Siva1 UTSW 12 112,613,272 (GRCm39) missense probably damaging 1.00
R6770:Siva1 UTSW 12 112,614,358 (GRCm39) missense probably damaging 1.00
R6847:Siva1 UTSW 12 112,611,344 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GCACCAACCAGGTGAAGTGAATAGC -3'
(R):5'- GGCTCTTGAACAGAACACTGCCAC -3'

Sequencing Primer
(F):5'- TGGCTGCTGACAATAGAATAATG -3'
(R):5'- GAACACTGCCACCATCTTCC -3'
Posted On 2014-01-15