Incidental Mutation 'R4712:Siva1'
ID 353319
Institutional Source Beutler Lab
Gene Symbol Siva1
Ensembl Gene ENSMUSG00000064326
Gene Name SIVA1, apoptosis-inducing factor
Synonyms CD27bp
MMRRC Submission 041981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4712 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112611262-112615586 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112613336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 61 (D61E)
Ref Sequence ENSEMBL: ENSMUSP00000021728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021728] [ENSMUST00000109755]
AlphaFold O54926
Predicted Effect probably benign
Transcript: ENSMUST00000021728
AA Change: D61E

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021728
Gene: ENSMUSG00000064326
AA Change: D61E

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt G T 15: 83,111,810 (GRCm39) N324K probably damaging Het
Ahcyl1 A G 3: 107,574,547 (GRCm39) probably benign Het
Atrnl1 T A 19: 57,641,382 (GRCm39) N343K probably benign Het
Batf2 C A 19: 6,221,357 (GRCm39) Q56K probably benign Het
Cfh A T 1: 140,036,274 (GRCm39) V691D probably damaging Het
Chst10 T C 1: 38,904,922 (GRCm39) Y257C probably damaging Het
Dlg5 A T 14: 24,228,051 (GRCm39) L290Q possibly damaging Het
Dnah2 T A 11: 69,407,416 (GRCm39) T456S possibly damaging Het
Dnah6 T C 6: 73,001,995 (GRCm39) probably null Het
Efhb T C 17: 53,758,697 (GRCm39) K313R probably damaging Het
Eprs1 T A 1: 185,160,305 (GRCm39) N1500K probably benign Het
Fbn1 T C 2: 125,183,236 (GRCm39) T1748A probably benign Het
Gfra2 T A 14: 71,163,377 (GRCm39) L87H probably damaging Het
Gfral T A 9: 76,100,727 (GRCm39) Y237F possibly damaging Het
Gpr137b T C 13: 13,533,974 (GRCm39) N361D probably benign Het
Gsdmc G T 15: 63,651,386 (GRCm39) T272N probably benign Het
Hspe1 T A 1: 55,128,269 (GRCm39) S21R probably benign Het
Kctd16 G T 18: 40,390,233 (GRCm39) probably benign Het
Kif21a A T 15: 90,868,958 (GRCm39) I483N probably damaging Het
Kif4-ps T C 12: 101,112,534 (GRCm39) noncoding transcript Het
Lpp T C 16: 24,580,407 (GRCm39) V166A possibly damaging Het
Lrp2 A C 2: 69,336,895 (GRCm39) D1292E probably damaging Het
Manba T C 3: 135,250,575 (GRCm39) Y401H probably damaging Het
Msh2 T G 17: 87,985,813 (GRCm39) probably benign Het
Myef2 A T 2: 124,930,757 (GRCm39) probably benign Het
Ncor1 T A 11: 62,235,660 (GRCm39) Q598L probably damaging Het
Obox3 A G 7: 15,360,764 (GRCm39) V125A probably benign Het
Or1n1 A T 2: 36,750,381 (GRCm39) probably null Het
Or2b4 T A 17: 38,116,591 (GRCm39) L185* probably null Het
Or9k7 G A 10: 130,046,291 (GRCm39) T236I possibly damaging Het
Pcdh9 C A 14: 94,126,067 (GRCm39) L34F probably damaging Het
Pcdha3 A T 18: 37,079,560 (GRCm39) I101F probably damaging Het
Pced1b A G 15: 97,282,675 (GRCm39) E238G probably benign Het
Pla2r1 A T 2: 60,258,994 (GRCm39) N1131K probably damaging Het
Prmt1 A T 7: 44,631,060 (GRCm39) S99R probably damaging Het
Qng1 G A 13: 58,529,617 (GRCm39) R332C probably benign Het
Rbp3 T C 14: 33,682,615 (GRCm39) S1116P probably damaging Het
Rhobtb2 T C 14: 70,037,160 (GRCm39) D88G probably damaging Het
Rngtt A G 4: 33,379,394 (GRCm39) E432G probably benign Het
Sh3rf1 A G 8: 61,814,793 (GRCm39) T451A probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skor1 A C 9: 63,046,855 (GRCm39) probably null Het
Slc20a1 A G 2: 129,041,611 (GRCm39) probably benign Het
Slc2a7 A G 4: 150,252,926 (GRCm39) E522G probably benign Het
Tmprss7 A T 16: 45,511,123 (GRCm39) I85N probably damaging Het
Tpx2 T A 2: 152,726,958 (GRCm39) D408E probably damaging Het
Ulk4 A T 9: 121,073,436 (GRCm39) I551N probably benign Het
Zfat A T 15: 67,982,324 (GRCm39) probably null Het
Zfp101 C A 17: 33,613,457 (GRCm39) probably null Het
Other mutations in Siva1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1217:Siva1 UTSW 12 112,613,355 (GRCm39) nonsense probably null
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
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'- GCTGTGGCTGCTGACAATAG -3'
(R):5'- CCTAGGTGTAACAGCAGGTC -3'

Sequencing Primer
(F):5'- CTGTGGCTGCTGACAATAGAATAATG -3'
(R):5'- TGTAACAGCAGGTCAGCCC -3'
Posted On 2015-10-21