Incidental Mutation 'IGL01023:Tnfaip8l2'
ID53505
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfaip8l2
Ensembl Gene ENSMUSG00000013707
Gene Nametumor necrosis factor, alpha-induced protein 8-like 2
SynonymsTipe2, 1810019A08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.235) question?
Stock #IGL01023
Quality Score
Status
Chromosome3
Chromosomal Location95139521-95142360 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95140415 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 46 (S46P)
Ref Sequence ENSEMBL: ENSMUSP00000013851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013851] [ENSMUST00000066386]
Predicted Effect probably damaging
Transcript: ENSMUST00000013851
AA Change: S46P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013851
Gene: ENSMUSG00000013707
AA Change: S46P

DomainStartEndE-ValueType
Pfam:DUF758 4 182 2.4e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066386
SMART Domains Protein: ENSMUSP00000067811
Gene: ENSMUSG00000053769

DomainStartEndE-ValueType
low complexity region 10 19 N/A INTRINSIC
LysM 41 85 2.58e-7 SMART
low complexity region 100 108 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184238
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: About 50% of mice homozygous for a null allele die prematurely of a chronic disease characterized by weight loss, splenomegaly, leukocytosis, and multiorgan inflammation; mutants are hypersensitive to septic shock while cells are hyperresponsive to Toll-like receptor and T cell receptor activation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,629,729 L1472P probably damaging Het
BC005561 T A 5: 104,520,500 W963R probably damaging Het
Col18a1 C T 10: 77,070,975 V1151M probably damaging Het
Crmp1 A T 5: 37,276,313 D286V probably damaging Het
Ddx60 A T 8: 61,942,514 I162F probably damaging Het
Fam24b A T 7: 131,326,174 C95* probably null Het
Fsd1 A G 17: 55,988,245 Y78C probably damaging Het
Galc C T 12: 98,231,422 V343I probably benign Het
Glis2 C T 16: 4,611,650 R214C probably damaging Het
Gm14406 A T 2: 177,569,239 C416S probably damaging Het
Gm5724 A G 6: 141,754,429 S126P probably benign Het
Gnat3 T C 5: 18,003,828 S177P probably damaging Het
Higd1a C T 9: 121,849,683 G80D possibly damaging Het
Hp1bp3 T C 4: 138,240,629 V421A possibly damaging Het
Ipo11 A T 13: 106,897,259 F238L probably benign Het
Med26 A T 8: 72,495,874 F460L possibly damaging Het
Olfr1111 T A 2: 87,149,825 T279S possibly damaging Het
Osbp2 T C 11: 3,863,387 I161V probably benign Het
Prr5 T C 15: 84,699,655 V152A possibly damaging Het
Prx T A 7: 27,519,419 I1115K probably benign Het
Ptpn22 A G 3: 103,903,374 I708M probably benign Het
Robo3 T C 9: 37,429,551 T120A probably damaging Het
Setd2 C A 9: 110,547,513 S132* probably null Het
Slc9a1 A G 4: 133,422,143 E760G probably benign Het
Stx16 A T 2: 174,092,409 H135L probably damaging Het
Tas2r131 A T 6: 132,957,801 L15Q probably damaging Het
Tmcc1 A G 6: 116,043,027 L128P probably damaging Het
Tmem269 C A 4: 119,209,314 M182I probably benign Het
Trim30c A G 7: 104,382,972 probably benign Het
Unc13a C T 8: 71,661,825 E184K probably benign Het
Wfs1 A T 5: 36,967,917 C467* probably null Het
Zfp78 G A 7: 6,375,588 G77D possibly damaging Het
Other mutations in Tnfaip8l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02417:Tnfaip8l2 APN 3 95140403 missense probably benign 0.04
R0025:Tnfaip8l2 UTSW 3 95140028 missense probably damaging 1.00
R2698:Tnfaip8l2 UTSW 3 95140361 missense possibly damaging 0.76
R7777:Tnfaip8l2 UTSW 3 95139996 makesense probably null
Posted On2013-06-28