Incidental Mutation 'IGL01081:Tnfaip1'
ID 52243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfaip1
Ensembl Gene ENSMUSG00000017615
Gene Name tumor necrosis factor, alpha-induced protein 1 (endothelial)
Synonyms Edp-1, Tnfip1, Bacurd2, Edp1
Accession Numbers
Essential gene? Probably essential (E-score: 0.832) question?
Stock # IGL01081
Quality Score
Status
Chromosome 11
Chromosomal Location 78413676-78427122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78419129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 156 (P156S)
Ref Sequence ENSEMBL: ENSMUSP00000103912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017759] [ENSMUST00000108277]
AlphaFold O70479
Predicted Effect probably damaging
Transcript: ENSMUST00000017759
AA Change: P156S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615
AA Change: P156S

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108277
AA Change: P156S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103912
Gene: ENSMUSG00000017615
AA Change: P156S

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,901,890 (GRCm39) L158P probably damaging Het
Aco1 A G 4: 40,197,576 (GRCm39) Q860R probably benign Het
Actl11 A T 9: 107,806,181 (GRCm39) Q168L possibly damaging Het
Adam26b T C 8: 43,972,975 (GRCm39) I676V probably benign Het
Aldoart2 A C 12: 55,612,920 (GRCm39) I282L probably benign Het
Capns1 G T 7: 29,889,565 (GRCm39) S211R probably benign Het
Cps1 T C 1: 67,245,983 (GRCm39) V1158A probably damaging Het
Cryl1 C T 14: 57,523,821 (GRCm39) probably null Het
Cxcr5 A G 9: 44,425,607 (GRCm39) probably benign Het
Dcaf13 A G 15: 38,982,201 (GRCm39) K56E probably damaging Het
Dlx6 T G 6: 6,867,068 (GRCm39) S85A probably damaging Het
Dsg2 C T 18: 20,722,999 (GRCm39) probably benign Het
Dync1li1 T A 9: 114,549,665 (GRCm39) S412T possibly damaging Het
Ebf3 C A 7: 136,827,625 (GRCm39) probably benign Het
Fads3 T C 19: 10,030,366 (GRCm39) I168T probably benign Het
Gm10295 G A 7: 71,000,296 (GRCm39) P95S unknown Het
Gm43638 T C 5: 87,634,455 (GRCm39) T51A probably damaging Het
Gm5114 G A 7: 39,060,071 (GRCm39) probably benign Het
Gucy2c G A 6: 136,679,737 (GRCm39) T974M probably damaging Het
Ighv1-19-1 T C 12: 114,672,258 (GRCm39) probably benign Het
Kri1 A T 9: 21,191,723 (GRCm39) L173Q probably damaging Het
Lztfl1 T C 9: 123,531,338 (GRCm39) D210G probably benign Het
Morc2a T A 11: 3,638,149 (GRCm39) N958K probably damaging Het
Msl3l2 G A 10: 55,992,021 (GRCm39) A249T probably benign Het
Nlrp4a A G 7: 26,149,254 (GRCm39) E287G probably benign Het
Nlrp9a A T 7: 26,257,519 (GRCm39) N290I possibly damaging Het
Or2b28 T G 13: 21,531,185 (GRCm39) L29R probably damaging Het
Or4e2 A G 14: 52,688,484 (GRCm39) T205A probably benign Het
Or5al6 C T 2: 85,976,955 (GRCm39) G41D probably benign Het
Pcsk7 A G 9: 45,840,005 (GRCm39) D731G probably benign Het
Plppr5 T A 3: 117,480,298 (GRCm39) probably benign Het
Podxl T C 6: 31,505,639 (GRCm39) T135A possibly damaging Het
Pole T G 5: 110,485,106 (GRCm39) C407G possibly damaging Het
Prl C A 13: 27,249,024 (GRCm39) N224K possibly damaging Het
Prnp A T 2: 131,778,340 (GRCm39) probably benign Het
Proser2 A G 2: 6,105,149 (GRCm39) *472R probably null Het
Rhag T C 17: 41,122,178 (GRCm39) S38P possibly damaging Het
Rnf146 T C 10: 29,223,856 (GRCm39) D10G probably damaging Het
Rps3a1 T C 3: 86,049,085 (GRCm39) D29G probably benign Het
Sv2a A T 3: 96,097,012 (GRCm39) I446F probably benign Het
Tbc1d30 C A 10: 121,103,319 (GRCm39) R571L probably damaging Het
Tfrc T A 16: 32,443,646 (GRCm39) probably null Het
Vmn1r226 T C 17: 20,908,166 (GRCm39) S133P probably damaging Het
Wnt9b C T 11: 103,622,836 (GRCm39) R189K probably damaging Het
Ythdc2 A G 18: 44,983,726 (GRCm39) H564R probably benign Het
Zfp442 C A 2: 150,251,267 (GRCm39) E211* probably null Het
Other mutations in Tnfaip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01705:Tnfaip1 APN 11 78,416,294 (GRCm39) missense probably benign 0.16
R0197:Tnfaip1 UTSW 11 78,420,840 (GRCm39) splice site probably benign
R0883:Tnfaip1 UTSW 11 78,420,840 (GRCm39) splice site probably benign
R1526:Tnfaip1 UTSW 11 78,420,971 (GRCm39) missense possibly damaging 0.95
R1997:Tnfaip1 UTSW 11 78,420,973 (GRCm39) missense probably damaging 1.00
R4646:Tnfaip1 UTSW 11 78,420,008 (GRCm39) missense probably damaging 1.00
R4786:Tnfaip1 UTSW 11 78,421,045 (GRCm39) missense possibly damaging 0.87
R4960:Tnfaip1 UTSW 11 78,418,396 (GRCm39) missense possibly damaging 0.92
R6187:Tnfaip1 UTSW 11 78,418,372 (GRCm39) missense probably damaging 0.96
R7086:Tnfaip1 UTSW 11 78,416,265 (GRCm39) missense probably benign 0.00
R9085:Tnfaip1 UTSW 11 78,420,965 (GRCm39) missense probably damaging 0.97
R9469:Tnfaip1 UTSW 11 78,419,075 (GRCm39) critical splice donor site probably null
Posted On 2013-06-21