Incidental Mutation 'R7777:Tnfaip8l2'
ID 598939
Institutional Source Beutler Lab
Gene Symbol Tnfaip8l2
Ensembl Gene ENSMUSG00000013707
Gene Name tumor necrosis factor, alpha-induced protein 8-like 2
Synonyms Tipe2, 1810019A08Rik
MMRRC Submission 045833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R7777 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95046832-95049671 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 95047307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 185 (*185W)
Ref Sequence ENSEMBL: ENSMUSP00000013851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013851] [ENSMUST00000066386]
AlphaFold Q9D8Y7
Predicted Effect probably null
Transcript: ENSMUST00000013851
AA Change: *185W
SMART Domains Protein: ENSMUSP00000013851
Gene: ENSMUSG00000013707
AA Change: *185W

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (47/47)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b C T 12: 113,453,758 (GRCm39) P192S possibly damaging Het
Arhgef10 A G 8: 14,995,373 (GRCm39) T353A probably damaging Het
Cabyr A G 18: 12,877,828 (GRCm39) D55G probably damaging Het
Dcaf4 T C 12: 83,584,733 (GRCm39) V322A probably damaging Het
Ephb2 T A 4: 136,498,947 (GRCm39) E44V possibly damaging Het
Fam3c T C 6: 22,328,573 (GRCm39) I105V probably benign Het
Fras1 A G 5: 96,900,763 (GRCm39) D2994G probably damaging Het
Fryl C T 5: 73,228,641 (GRCm39) D1697N probably damaging Het
Gapdh A T 6: 125,139,911 (GRCm39) Y164* probably null Het
Gm4353 T G 7: 115,682,998 (GRCm39) Q194H possibly damaging Het
Ilvbl T A 10: 78,413,085 (GRCm39) probably null Het
Ism2 T A 12: 87,333,658 (GRCm39) probably null Het
Jak2 C T 19: 29,254,268 (GRCm39) T196I probably benign Het
Lcor T G 19: 41,547,234 (GRCm39) Y273D probably benign Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lysmd4 T A 7: 66,873,446 (GRCm39) M27K possibly damaging Het
Muc17 G A 5: 137,175,564 (GRCm39) silent Het
Or11h4b A T 14: 50,918,261 (GRCm39) Y277N probably damaging Het
Or13a25 T A 7: 140,247,854 (GRCm39) I211N probably benign Het
Or5m10 A G 2: 85,717,951 (GRCm39) E269G possibly damaging Het
Oscp1 T C 4: 125,958,774 (GRCm39) probably null Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Pkd2l2 C A 18: 34,549,913 (GRCm39) P186Q probably damaging Het
Plcb1 G A 2: 135,062,677 (GRCm39) G96R possibly damaging Het
Plcd3 G C 11: 102,965,481 (GRCm39) R535G probably benign Het
Plcg1 A G 2: 160,596,523 (GRCm39) M681V possibly damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Polrmt A T 10: 79,575,022 (GRCm39) D836E probably benign Het
Pramel12 T C 4: 143,144,331 (GRCm39) Y226H possibly damaging Het
Prkag1 A T 15: 98,712,478 (GRCm39) I149N probably damaging Het
Prkci A T 3: 31,104,362 (GRCm39) Q575L possibly damaging Het
Prss40 C T 1: 34,591,846 (GRCm39) W276* probably null Het
Ptprn T C 1: 75,228,946 (GRCm39) D823G possibly damaging Het
Radil A C 5: 142,529,303 (GRCm39) F131C probably damaging Het
Rif1 A G 2: 52,006,368 (GRCm39) I550V probably benign Het
Rmnd1 T C 10: 4,361,713 (GRCm39) E320G probably damaging Het
Sec31b T A 19: 44,512,212 (GRCm39) K561* probably null Het
Spata31g1 C T 4: 42,970,171 (GRCm39) Q53* probably null Het
Spata31g1 T C 4: 42,971,095 (GRCm39) S143P probably benign Het
Tbx5 A C 5: 120,021,232 (GRCm39) T413P probably benign Het
Tmprss7 A G 16: 45,480,963 (GRCm39) probably null Het
Tpst2 A G 5: 112,457,560 (GRCm39) E296G possibly damaging Het
Ubn2 T A 6: 38,467,688 (GRCm39) S801T probably damaging Het
Usp34 A G 11: 23,332,638 (GRCm39) S1141G Het
Uts2r A G 11: 121,052,279 (GRCm39) N381S probably benign Het
Vmn2r44 G T 7: 8,381,314 (GRCm39) T193K possibly damaging Het
Wdr18 T A 10: 79,801,884 (GRCm39) M223K probably benign Het
Wdr64 T C 1: 175,617,564 (GRCm39) C715R possibly damaging Het
Zfp672 A G 11: 58,208,081 (GRCm39) F80S possibly damaging Het
Other mutations in Tnfaip8l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Tnfaip8l2 APN 3 95,047,726 (GRCm39) missense probably damaging 1.00
IGL02417:Tnfaip8l2 APN 3 95,047,714 (GRCm39) missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- AGCTGTTTCCTTTACTGGAACTGG -3'
(R):5'- ACATTCTGCTGGAGCTGGTG -3'

Sequencing Primer
(F):5'- CCTTTACTGGAACTGGATGGGAGC -3'
(R):5'- TGGAGCACCACCTCACAC -3'
Posted On 2019-11-26