Incidental Mutation 'R2247:Tnfaip8'
ID 240922
Institutional Source Beutler Lab
Gene Symbol Tnfaip8
Ensembl Gene ENSMUSG00000062210
Gene Name tumor necrosis factor, alpha-induced protein 8
Synonyms Nded, Tipe, E130304C20Rik, Gm10539, Ssc-2, Gg2-1
MMRRC Submission 040247-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R2247 (G1)
Quality Score 131
Status Not validated
Chromosome 18
Chromosomal Location 50112494-50226296 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC to ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC at 50179912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126666] [ENSMUST00000128377] [ENSMUST00000134348] [ENSMUST00000180305] [ENSMUST00000148989] [ENSMUST00000145726] [ENSMUST00000179937] [ENSMUST00000153873]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000087655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124175
Predicted Effect probably benign
Transcript: ENSMUST00000126666
SMART Domains Protein: ENSMUSP00000121372
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 27 212 6.5e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128377
SMART Domains Protein: ENSMUSP00000136152
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 7 166 1.2e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129164
Predicted Effect probably benign
Transcript: ENSMUST00000134348
SMART Domains Protein: ENSMUSP00000119533
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 27 77 3.2e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000180305
SMART Domains Protein: ENSMUSP00000136682
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
low complexity region 23 59 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153545
Predicted Effect probably benign
Transcript: ENSMUST00000148989
SMART Domains Protein: ENSMUSP00000120712
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 3 188 4.1e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145726
SMART Domains Protein: ENSMUSP00000136665
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 1 100 4.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179937
SMART Domains Protein: ENSMUSP00000136030
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 3 134 1.1e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153873
SMART Domains Protein: ENSMUSP00000115396
Gene: ENSMUSG00000062210

DomainStartEndE-ValueType
Pfam:DUF758 27 114 9e-45 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,184,435 (GRCm39) E70G possibly damaging Het
Ash1l C A 3: 88,914,674 (GRCm39) P1768Q possibly damaging Het
Bicra C A 7: 15,723,159 (GRCm39) E119D probably benign Het
Brd2 A G 17: 34,333,389 (GRCm39) F421L probably damaging Het
Cspp1 A T 1: 10,136,685 (GRCm39) Q182L possibly damaging Het
Dnah7b A G 1: 46,316,223 (GRCm39) D3112G probably damaging Het
Dsc2 T A 18: 20,168,369 (GRCm39) I697F probably damaging Het
Ephb1 A T 9: 101,874,010 (GRCm39) S555T probably damaging Het
Fat4 A T 3: 38,946,198 (GRCm39) D1697V probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Impg2 A G 16: 56,088,627 (GRCm39) K1160R probably damaging Het
Jak2 T C 19: 29,261,036 (GRCm39) V344A probably benign Het
Kcnab3 A G 11: 69,221,016 (GRCm39) T168A probably damaging Het
Kctd18 A T 1: 58,006,801 (GRCm39) H16Q possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh11 A G 16: 14,095,423 (GRCm39) L113P probably damaging Het
Myh13 A T 11: 67,225,384 (GRCm39) I250F probably damaging Het
Nin T C 12: 70,101,319 (GRCm39) Y426C probably damaging Het
Or10ab4 C T 7: 107,654,989 (GRCm39) R267C probably benign Het
Or51ab3 T A 7: 103,201,097 (GRCm39) probably null Het
Pbrm1 A G 14: 30,796,850 (GRCm39) H897R probably damaging Het
Pgap4 T C 4: 49,586,209 (GRCm39) S320G probably benign Het
Plcl2 T C 17: 50,913,873 (GRCm39) V294A probably damaging Het
Psapl1 A G 5: 36,362,410 (GRCm39) E334G probably benign Het
Pwwp3a A G 10: 80,076,259 (GRCm39) Y483C probably damaging Het
Raly A G 2: 154,705,953 (GRCm39) H277R possibly damaging Het
Ranbp9 T C 13: 43,565,901 (GRCm39) K462E probably damaging Het
Rptn A G 3: 93,304,136 (GRCm39) T490A probably benign Het
Rtl1 T C 12: 109,561,413 (GRCm39) H142R possibly damaging Het
Scart2 G A 7: 139,829,042 (GRCm39) G234S probably null Het
Shisa3 G A 5: 67,768,666 (GRCm39) V189M probably benign Het
Slc25a36 A T 9: 96,982,191 (GRCm39) L28Q probably damaging Het
Slc38a8 A G 8: 120,212,389 (GRCm39) M318T probably benign Het
Slc4a11 A T 2: 130,529,721 (GRCm39) M328K probably benign Het
Sp2 A C 11: 96,852,844 (GRCm39) probably null Het
Sult2b1 A T 7: 45,384,734 (GRCm39) I114N probably damaging Het
Synrg T C 11: 83,900,202 (GRCm39) S803P probably damaging Het
Tenm4 T A 7: 96,555,216 (GRCm39) D2603E probably benign Het
Zfp189 T A 4: 49,530,393 (GRCm39) C499S possibly damaging Het
Zfp236 A G 18: 82,622,423 (GRCm39) F1621S possibly damaging Het
Other mutations in Tnfaip8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00328:Tnfaip8 APN 18 50,223,393 (GRCm39) missense probably damaging 1.00
IGL03391:Tnfaip8 APN 18 50,223,552 (GRCm39) missense probably damaging 0.96
FR4304:Tnfaip8 UTSW 18 50,179,906 (GRCm39) frame shift probably null
FR4449:Tnfaip8 UTSW 18 50,179,906 (GRCm39) frame shift probably null
R0605:Tnfaip8 UTSW 18 50,179,912 (GRCm39) small deletion probably benign
R1696:Tnfaip8 UTSW 18 50,223,290 (GRCm39) nonsense probably null
R1804:Tnfaip8 UTSW 18 50,223,728 (GRCm39) missense probably damaging 1.00
R3963:Tnfaip8 UTSW 18 50,223,653 (GRCm39) missense possibly damaging 0.95
R4258:Tnfaip8 UTSW 18 50,223,443 (GRCm39) missense possibly damaging 0.55
R4738:Tnfaip8 UTSW 18 50,223,569 (GRCm39) missense probably damaging 1.00
R6229:Tnfaip8 UTSW 18 50,184,742 (GRCm39) unclassified probably benign
R7786:Tnfaip8 UTSW 18 50,180,179 (GRCm39) missense unknown
R7786:Tnfaip8 UTSW 18 50,180,178 (GRCm39) missense unknown
R8832:Tnfaip8 UTSW 18 50,179,908 (GRCm39) critical splice donor site probably benign
R8889:Tnfaip8 UTSW 18 50,179,908 (GRCm39) critical splice donor site probably benign
R9611:Tnfaip8 UTSW 18 50,179,908 (GRCm39) critical splice donor site probably benign
R9649:Tnfaip8 UTSW 18 50,223,512 (GRCm39) nonsense probably null
RF024:Tnfaip8 UTSW 18 50,179,898 (GRCm39) critical splice donor site probably benign
RF052:Tnfaip8 UTSW 18 50,179,900 (GRCm39) frame shift probably null
RF062:Tnfaip8 UTSW 18 50,179,898 (GRCm39) critical splice donor site probably benign
Predicted Primers PCR Primer
(F):5'- AACTGGACGTAGCTTCAACTGC -3'
(R):5'- CAACTTCCCAGCGCTGATAG -3'

Sequencing Primer
(F):5'- GGACGTAGCTTCAACTGCCAAAC -3'
(R):5'- TTACTGTGAAGCGTTCAGAAGCC -3'
Posted On 2014-10-15