Incidental Mutation 'IGL01705:Tnfaip1'
ID 104563
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 Edp1, Edp-1, Tnfaip1, Tnfip1
Accession Numbers
Essential gene? Probably essential (E-score: 0.751) question?
Stock # IGL01705
Quality Score
Chromosome 11
Chromosomal Location 78522850-78536332 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78525468 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 263 (D263G)
Ref Sequence ENSEMBL: ENSMUSP00000103912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001127] [ENSMUST00000017759] [ENSMUST00000108277]
AlphaFold O70479
Predicted Effect probably benign
Transcript: ENSMUST00000001127
SMART Domains Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100

low complexity region 29 47 N/A INTRINSIC
YccV-like 74 210 1.03e-39 SMART
Pfam:DUF525 252 338 2.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000017759
AA Change: D263G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615
AA Change: D263G

BTB 28 128 4.8e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108277
AA Change: D263G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103912
Gene: ENSMUSG00000017615
AA Change: D263G

BTB 28 128 4.8e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133601
SMART Domains Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100

YccV-like 40 176 1.03e-39 SMART
Pfam:DUF525 218 278 4.9e-17 PFAM
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,032,966 T1077A possibly damaging Het
Akap13 T C 7: 75,746,767 V2504A possibly damaging Het
Anks3 A T 16: 4,947,723 W172R probably benign Het
Asap2 T A 12: 21,249,368 N633K possibly damaging Het
Astn1 A T 1: 158,504,313 S326C probably damaging Het
Cachd1 A G 4: 100,983,539 K900E possibly damaging Het
Cd5 A T 19: 10,726,295 probably null Het
D130043K22Rik T A 13: 24,857,941 N284K probably benign Het
Dtna C T 18: 23,545,731 A38V probably damaging Het
Eny2 C A 15: 44,432,435 probably null Het
Grm5 A G 7: 88,130,046 Q930R possibly damaging Het
Igkv4-73 A T 6: 69,197,725 noncoding transcript Het
Lama2 A T 10: 27,189,274 probably benign Het
Lipg A G 18: 74,947,971 probably null Het
Mettl7b T A 10: 128,958,862 I198F probably benign Het
Neto2 T C 8: 85,641,003 K371E probably damaging Het
Olfr965 T C 9: 39,719,581 M118T possibly damaging Het
Paxbp1 A G 16: 91,016,988 F834L probably benign Het
Paxip1 A T 5: 27,748,859 S946R probably damaging Het
Pclo A G 5: 14,677,865 probably benign Het
Plcg2 T C 8: 117,581,662 L331P probably damaging Het
Reep1 A G 6: 71,773,288 T95A probably damaging Het
Rfx2 A G 17: 56,785,303 Y332H possibly damaging Het
Smchd1 A T 17: 71,381,398 D1288E probably damaging Het
Spag17 A G 3: 100,022,730 M582V probably benign Het
Susd1 A G 4: 59,332,931 probably benign Het
Syt9 T G 7: 107,436,352 L192R probably damaging Het
Tlr6 T C 5: 64,954,130 K478R probably benign Het
Tmem115 G T 9: 107,535,204 L242F probably benign Het
Ubqln3 T A 7: 104,142,677 I69F probably damaging Het
Vps52 T C 17: 33,966,068 L712P probably damaging Het
Other mutations in Tnfaip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Tnfaip1 APN 11 78528303 missense probably damaging 1.00
R0197:Tnfaip1 UTSW 11 78530014 splice site probably benign
R0883:Tnfaip1 UTSW 11 78530014 splice site probably benign
R1526:Tnfaip1 UTSW 11 78530145 missense possibly damaging 0.95
R1997:Tnfaip1 UTSW 11 78530147 missense probably damaging 1.00
R4646:Tnfaip1 UTSW 11 78529182 missense probably damaging 1.00
R4786:Tnfaip1 UTSW 11 78530219 missense possibly damaging 0.87
R4960:Tnfaip1 UTSW 11 78527570 missense possibly damaging 0.92
R6187:Tnfaip1 UTSW 11 78527546 missense probably damaging 0.96
R7086:Tnfaip1 UTSW 11 78525439 missense probably benign 0.00
R9085:Tnfaip1 UTSW 11 78530139 missense probably damaging 0.97
R9469:Tnfaip1 UTSW 11 78528249 critical splice donor site probably null
Posted On 2014-01-21