Incidental Mutation 'IGL00916:Tnfaip2'
ID28720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfaip2
Ensembl Gene ENSMUSG00000021281
Gene Nametumor necrosis factor, alpha-induced protein 2
SynonymsTnfaip2, tnfb94, Tnfip2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00916
Quality Score
Status
Chromosome12
Chromosomal Location111442469-111455018 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 111453549 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Arginine at position 705 (I705R)
Ref Sequence ENSEMBL: ENSMUSP00000105415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102745] [ENSMUST00000109792] [ENSMUST00000172783] [ENSMUST00000174298]
Predicted Effect probably damaging
Transcript: ENSMUST00000102745
AA Change: I688R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099806
Gene: ENSMUSG00000021281
AA Change: I688R

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
low complexity region 141 147 N/A INTRINSIC
Pfam:Sec6 157 688 1.3e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109792
AA Change: I705R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105415
Gene: ENSMUSG00000021281
AA Change: I705R

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
low complexity region 141 147 N/A INTRINSIC
Pfam:Sec6 157 705 1.7e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156003
Predicted Effect probably benign
Transcript: ENSMUST00000172783
SMART Domains Protein: ENSMUSP00000133635
Gene: ENSMUSG00000021281

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173581
Predicted Effect probably benign
Transcript: ENSMUST00000174298
SMART Domains Protein: ENSMUSP00000133317
Gene: ENSMUSG00000021281

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
low complexity region 42 54 N/A INTRINSIC
low complexity region 65 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221429
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. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,852 Q762L probably benign Het
Aldh1a1 T C 19: 20,619,997 V114A probably benign Het
Ano4 T C 10: 88,998,098 I459V probably benign Het
Atad5 C T 11: 80,119,000 P1199S probably damaging Het
Bmp10 T C 6: 87,429,160 F43S possibly damaging Het
Cd96 T C 16: 46,041,312 E505G probably benign Het
D17Wsu92e A G 17: 27,767,919 Y278H probably damaging Het
Eapp T C 12: 54,692,808 T75A possibly damaging Het
Emilin1 T C 5: 30,913,902 Y10H probably damaging Het
Ercc6 A G 14: 32,562,655 probably benign Het
Gucy2e T C 11: 69,223,097 I1089V possibly damaging Het
H6pd C A 4: 149,994,468 probably null Het
Igsf10 A T 3: 59,331,127 F544L probably damaging Het
Il23r T C 6: 67,473,931 Y188C probably damaging Het
Inpp5j T C 11: 3,502,389 E287G probably damaging Het
Lrp6 T C 6: 134,484,289 D735G probably damaging Het
Mast2 A T 4: 116,327,633 M240K possibly damaging Het
Mreg T A 1: 72,164,132 T96S probably benign Het
Mta2 A T 19: 8,947,101 M220L probably benign Het
Mycbp2 A G 14: 103,291,283 probably benign Het
Naip2 T A 13: 100,161,431 N699I probably damaging Het
Ncapg T G 5: 45,671,192 I95S probably benign Het
Ndufa13 A G 8: 69,894,419 probably benign Het
Nol10 T A 12: 17,361,129 probably benign Het
Parp8 T A 13: 116,927,323 I85F probably damaging Het
Rgs2 T A 1: 144,002,229 I78F probably damaging Het
Rpia C T 6: 70,775,102 probably benign Het
Sec63 T C 10: 42,812,457 S488P possibly damaging Het
Tfcp2 T G 15: 100,520,678 H201P probably damaging Het
Ttf1 A G 2: 29,070,042 N554S probably benign Het
Ulk1 A G 5: 110,793,011 S351P probably damaging Het
Zp2 T A 7: 120,138,174 N264Y probably damaging Het
Other mutations in Tnfaip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Tnfaip2 APN 12 111445619 missense probably damaging 1.00
IGL02550:Tnfaip2 APN 12 111446101 missense probably damaging 1.00
R0103:Tnfaip2 UTSW 12 111445810 missense probably benign 0.38
R0145:Tnfaip2 UTSW 12 111445858 missense possibly damaging 0.87
R0324:Tnfaip2 UTSW 12 111453459 missense probably damaging 1.00
R0609:Tnfaip2 UTSW 12 111453507 missense probably benign 0.01
R0837:Tnfaip2 UTSW 12 111450707 missense probably damaging 1.00
R1353:Tnfaip2 UTSW 12 111444969 missense probably damaging 1.00
R1366:Tnfaip2 UTSW 12 111449322 missense probably benign 0.00
R1988:Tnfaip2 UTSW 12 111449891 critical splice donor site probably null
R2109:Tnfaip2 UTSW 12 111448093 missense probably damaging 1.00
R2147:Tnfaip2 UTSW 12 111446022 missense probably damaging 1.00
R4003:Tnfaip2 UTSW 12 111451344 splice site probably benign
R4402:Tnfaip2 UTSW 12 111449851 missense probably benign 0.43
R4690:Tnfaip2 UTSW 12 111445248 missense possibly damaging 0.66
R4718:Tnfaip2 UTSW 12 111446029 missense possibly damaging 0.95
R5271:Tnfaip2 UTSW 12 111448460 intron probably benign
R6478:Tnfaip2 UTSW 12 111445663 missense probably damaging 1.00
R7623:Tnfaip2 UTSW 12 111445638 missense probably damaging 0.98
Posted On2013-04-17