Incidental Mutation 'IGL02417:Tnfaip8l2'
ID 292495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfaip8l2
Ensembl Gene ENSMUSG00000013707
Gene Name tumor necrosis factor, alpha-induced protein 8-like 2
Synonyms Tipe2, 1810019A08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL02417
Quality Score
Status
Chromosome 3
Chromosomal Location 95046832-95049671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95047714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 50 (T50A)
Ref Sequence ENSEMBL: ENSMUSP00000013851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013851] [ENSMUST00000066386]
AlphaFold Q9D8Y7
Predicted Effect probably benign
Transcript: ENSMUST00000013851
AA Change: T50A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000013851
Gene: ENSMUSG00000013707
AA Change: T50A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T A 12: 52,565,136 (GRCm39) N702K probably damaging Het
Atm T C 9: 53,390,995 (GRCm39) T1860A probably benign Het
Bicdl1 A T 5: 115,811,217 (GRCm39) H231Q probably damaging Het
C2cd5 A C 6: 142,987,218 (GRCm39) D470E probably damaging Het
Chd5 T C 4: 152,451,751 (GRCm39) F688L probably damaging Het
Cul3 T C 1: 80,300,619 (GRCm39) Y74C probably damaging Het
Dhx16 A G 17: 36,203,429 (GRCm39) E1042G probably damaging Het
Dnah11 A G 12: 118,020,915 (GRCm39) L1966P probably damaging Het
Dpy19l1 A T 9: 24,386,682 (GRCm39) I204N possibly damaging Het
Drd2 T C 9: 49,313,559 (GRCm39) probably benign Het
Fasn A G 11: 120,711,166 (GRCm39) V228A probably damaging Het
Fggy T C 4: 95,737,846 (GRCm39) W148R probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gpr89 A T 3: 96,804,741 (GRCm39) Y38* probably null Het
H2-M1 G A 17: 36,983,026 (GRCm39) H22Y possibly damaging Het
Kdm3b T A 18: 34,941,630 (GRCm39) S574T probably benign Het
Kmt2c C T 5: 25,578,018 (GRCm39) V753I probably benign Het
Lcn9 T C 2: 25,713,692 (GRCm39) F73L possibly damaging Het
Lnpep T C 17: 17,765,165 (GRCm39) T762A possibly damaging Het
Lrp2 C T 2: 69,291,649 (GRCm39) C3510Y probably damaging Het
Nlrp3 T A 11: 59,456,849 (GRCm39) probably benign Het
Or14c39 A G 7: 86,344,027 (GRCm39) Y121C probably damaging Het
Or1j18 A T 2: 36,624,356 (GRCm39) I8F probably benign Het
Or5b3 A G 19: 13,388,259 (GRCm39) T109A possibly damaging Het
Pcnx3 A T 19: 5,736,509 (GRCm39) V176E possibly damaging Het
Phlpp1 T C 1: 106,320,444 (GRCm39) S1480P probably benign Het
Ppfia3 T C 7: 44,991,141 (GRCm39) R1027G probably damaging Het
Rnf216 A G 5: 143,054,665 (GRCm39) Y628H possibly damaging Het
Sh3bp1 G A 15: 78,785,699 (GRCm39) R4Q probably damaging Het
Skint9 A G 4: 112,271,335 (GRCm39) probably benign Het
Slc25a51 A G 4: 45,400,074 (GRCm39) S39P probably benign Het
Smarca4 C T 9: 21,612,386 (GRCm39) R1558C probably damaging Het
Spag9 A G 11: 94,007,567 (GRCm39) S1224G probably benign Het
Spdl1 G T 11: 34,704,181 (GRCm39) Q551K probably benign Het
Sugt1 A G 14: 79,847,698 (GRCm39) I183V probably benign Het
Th G A 7: 142,453,643 (GRCm39) S19L probably damaging Het
Tmprss11g A G 5: 86,638,750 (GRCm39) V246A probably benign Het
Tox3 G T 8: 90,984,759 (GRCm39) T140K possibly damaging Het
Unc50 T A 1: 37,476,531 (GRCm39) Y205* probably null Het
Vmn2r83 A T 10: 79,314,881 (GRCm39) K376N probably benign Het
Other mutations in Tnfaip8l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Tnfaip8l2 APN 3 95,047,726 (GRCm39) missense probably damaging 1.00
R0025:Tnfaip8l2 UTSW 3 95,047,339 (GRCm39) missense probably damaging 1.00
R2698:Tnfaip8l2 UTSW 3 95,047,672 (GRCm39) missense possibly damaging 0.76
R7777:Tnfaip8l2 UTSW 3 95,047,307 (GRCm39) makesense probably null
R8369:Tnfaip8l2 UTSW 3 95,047,486 (GRCm39) missense probably benign 0.09
R9312:Tnfaip8l2 UTSW 3 95,047,767 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16