Incidental Mutation 'R1804:Tnfaip8'
ID 203421
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 039834-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R1804 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 50112494-50226296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50223728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 179 (C179S)
Ref Sequence ENSEMBL: ENSMUSP00000121372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126666] [ENSMUST00000128377] [ENSMUST00000134348] [ENSMUST00000145726] [ENSMUST00000148159] [ENSMUST00000148989] [ENSMUST00000179937] [ENSMUST00000153873]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000126666
AA Change: C179S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121372
Gene: ENSMUSG00000062210
AA Change: C179S

DomainStartEndE-ValueType
Pfam:DUF758 27 212 6.5e-98 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128377
AA Change: C159S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136152
Gene: ENSMUSG00000062210
AA Change: C159S

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

DomainStartEndE-ValueType
Pfam:DUF758 27 77 3.2e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145726
AA Change: C67S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136665
Gene: ENSMUSG00000062210
AA Change: C67S

DomainStartEndE-ValueType
Pfam:DUF758 1 100 4.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148159
AA Change: C179S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119041
Gene: ENSMUSG00000062210
AA Change: C179S

DomainStartEndE-ValueType
Pfam:DUF758 30 210 1.2e-80 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148989
AA Change: C155S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120712
Gene: ENSMUSG00000062210
AA Change: C155S

DomainStartEndE-ValueType
Pfam:DUF758 3 188 4.1e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153545
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
Meta Mutation Damage Score 0.1526 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.5%
  • 20x: 89.8%
Validation Efficiency 96% (77/80)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,400 (GRCm39) Y220H probably benign Het
4930579C12Rik T C 9: 89,034,113 (GRCm39) noncoding transcript Het
Abcc8 T C 7: 45,769,903 (GRCm39) S871G probably benign Het
Acly T C 11: 100,406,731 (GRCm39) Y288C probably damaging Het
Adgrb1 T A 15: 74,401,389 (GRCm39) D128E probably damaging Het
Alms1 C T 6: 85,598,257 (GRCm39) Q1497* probably null Het
Bltp2 A G 11: 78,164,295 (GRCm39) H1165R probably damaging Het
Cacna1c G A 6: 118,664,007 (GRCm39) T688M probably damaging Het
Ccdc7a A T 8: 129,715,247 (GRCm39) L279* probably null Het
Cep135 A G 5: 76,784,779 (GRCm39) E958G probably benign Het
Clec4n G T 6: 123,206,981 (GRCm39) V2L possibly damaging Het
Col28a1 C T 6: 8,164,612 (GRCm39) probably null Het
Dcaf5 A G 12: 80,386,603 (GRCm39) S508P probably benign Het
Dlgap2 C A 8: 14,777,809 (GRCm39) N351K possibly damaging Het
Dnah8 T A 17: 30,927,381 (GRCm39) Y1346N probably benign Het
Dqx1 T C 6: 83,037,303 (GRCm39) V322A probably damaging Het
Ebf3 A C 7: 136,802,250 (GRCm39) L412V possibly damaging Het
Epha5 T C 5: 84,479,674 (GRCm39) N110S probably benign Het
Fcgbp T C 7: 27,785,564 (GRCm39) C334R probably benign Het
Glp1r T A 17: 31,149,687 (GRCm39) probably null Het
Gm4952 G T 19: 12,595,784 (GRCm39) R58L probably damaging Het
Gm7579 G A 7: 141,765,675 (GRCm39) C27Y unknown Het
Golm1 T A 13: 59,790,203 (GRCm39) probably null Het
Gucy2g T A 19: 55,198,741 (GRCm39) I801F probably benign Het
H2-D1 T C 17: 35,482,528 (GRCm39) Y83H probably damaging Het
Homez A T 14: 55,094,598 (GRCm39) I19N probably damaging Het
Hoxa5 T C 6: 52,179,628 (GRCm39) K249R probably damaging Het
Hsd17b4 A T 18: 50,311,051 (GRCm39) N550Y probably damaging Het
Ipo4 A T 14: 55,866,913 (GRCm39) N668K probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klb A G 5: 65,537,196 (GRCm39) D842G probably damaging Het
Minar1 T A 9: 89,485,152 (GRCm39) M82L possibly damaging Het
Mmp21 G T 7: 133,280,611 (GRCm39) P120T probably benign Het
Mroh7 T A 4: 106,551,589 (GRCm39) I918F possibly damaging Het
Muc5b A G 7: 141,417,517 (GRCm39) T3488A possibly damaging Het
Npc1 C T 18: 12,356,145 (GRCm39) C42Y probably damaging Het
Ogdh A G 11: 6,288,565 (GRCm39) Y214C probably damaging Het
Or2q1 G A 6: 42,795,155 (GRCm39) C250Y possibly damaging Het
Or4k15c A T 14: 50,321,359 (GRCm39) W260R probably damaging Het
Or4k35 T C 2: 111,100,275 (GRCm39) M146V probably benign Het
Or5al1 G T 2: 85,990,417 (GRCm39) T99N probably benign Het
Or8d23 A G 9: 38,841,946 (GRCm39) T160A possibly damaging Het
Phtf1 A G 3: 103,894,883 (GRCm39) probably benign Het
Plb1 A G 5: 32,511,041 (GRCm39) N1302S possibly damaging Het
Prex2 A G 1: 11,202,566 (GRCm39) K492E probably damaging Het
Prkaa1 A G 15: 5,208,259 (GRCm39) D509G probably benign Het
Rims2 C T 15: 39,300,439 (GRCm39) Q57* probably null Het
Rnf40 T C 7: 127,195,120 (GRCm39) V411A possibly damaging Het
Rraga A G 4: 86,494,681 (GRCm39) I176V probably damaging Het
Rrm2 T C 12: 24,758,611 (GRCm39) I51T probably benign Het
Serpina3a T A 12: 104,084,675 (GRCm39) probably benign Het
Skint7 T C 4: 111,839,209 (GRCm39) W168R probably damaging Het
Slc27a4 A G 2: 29,701,279 (GRCm39) M357V probably benign Het
Slc4a3 A G 1: 75,528,361 (GRCm39) H452R probably damaging Het
Smc1b A T 15: 85,011,991 (GRCm39) I127K possibly damaging Het
Snap91 T A 9: 86,665,470 (GRCm39) M383L probably benign Het
Taf6l A T 19: 8,750,998 (GRCm39) L52Q probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tas2r124 A G 6: 132,732,488 (GRCm39) I266V probably benign Het
Tesk2 T C 4: 116,657,818 (GRCm39) probably benign Het
Tmem131l T G 3: 83,817,786 (GRCm39) Q1237P possibly damaging Het
Tmem67 A G 4: 12,045,789 (GRCm39) probably null Het
Ush2a G A 1: 188,365,926 (GRCm39) probably null Het
Vps13b A T 15: 35,917,283 (GRCm39) E3709V probably damaging Het
Wdr7 A T 18: 63,998,511 (GRCm39) S1153C probably damaging Het
Zc2hc1b A C 10: 13,047,012 (GRCm39) probably benign Het
Zfp438 A G 18: 5,213,689 (GRCm39) I423T probably damaging Het
Zfp592 C A 7: 80,673,443 (GRCm39) P136T probably damaging Het
Zfp783 T A 6: 47,922,819 (GRCm39) noncoding transcript Het
Zfp804b A T 5: 6,821,756 (GRCm39) S400T 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
R2247:Tnfaip8 UTSW 18 50,179,912 (GRCm39) frame shift probably null
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'- AATCAGTTCAATCAAGACGAGCTG -3'
(R):5'- TCCCTTTACAAGTCATCGGTGC -3'

Sequencing Primer
(F):5'- CTGGCGCTCATGGAGAAGTTC -3'
(R):5'- ACAAGTCATCGGTGCTGGACTTC -3'
Posted On 2014-06-23