Incidental Mutation 'R4718:Tnfaip2'
ID 354244
Institutional Source Beutler Lab
Gene Symbol Tnfaip2
Ensembl Gene ENSMUSG00000021281
Gene Name tumor necrosis factor, alpha-induced protein 2
Synonyms M-sec, Tnfip2, Exoc3l3
MMRRC Submission 041985-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4718 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 111408903-111421452 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111412463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 288 (E288G)
Ref Sequence ENSEMBL: ENSMUSP00000105415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102745] [ENSMUST00000109792] [ENSMUST00000129467] [ENSMUST00000172783] [ENSMUST00000174298]
AlphaFold Q61333
Predicted Effect possibly damaging
Transcript: ENSMUST00000102745
AA Change: E288G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099806
Gene: ENSMUSG00000021281
AA Change: E288G

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
low complexity region 141 147 N/A INTRINSIC
Pfam:Sec6 157 688 1.3e-111 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109792
AA Change: E288G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105415
Gene: ENSMUSG00000021281
AA Change: E288G

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
low complexity region 141 147 N/A INTRINSIC
Pfam:Sec6 157 705 1.7e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127207
Predicted Effect probably benign
Transcript: ENSMUST00000129467
SMART Domains Protein: ENSMUSP00000133274
Gene: ENSMUSG00000021281

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156003
Predicted Effect probably benign
Transcript: ENSMUST00000172783
SMART Domains Protein: ENSMUSP00000133635
Gene: ENSMUSG00000021281

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174298
SMART Domains Protein: ENSMUSP00000133317
Gene: ENSMUSG00000021281

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
low complexity region 42 54 N/A INTRINSIC
low complexity region 65 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174692
Predicted Effect probably benign
Transcript: ENSMUST00000173581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221429
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik G A 5: 115,001,615 (GRCm39) probably null Het
Acsm2 A T 7: 119,172,826 (GRCm39) Y147F probably damaging Het
Alg12 A T 15: 88,690,256 (GRCm39) Y413N probably damaging Het
Arrdc3 A T 13: 81,031,986 (GRCm39) Q73L possibly damaging Het
Atp13a5 T C 16: 29,066,922 (GRCm39) K1017E probably damaging Het
Bmal1 A T 7: 112,902,568 (GRCm39) I399F probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Bsph1 T A 7: 13,206,107 (GRCm39) Y47* probably null Het
Crat A T 2: 30,298,176 (GRCm39) Y174* probably null Het
Csmd3 G T 15: 47,561,546 (GRCm39) Y2254* probably null Het
Cyld T A 8: 89,468,933 (GRCm39) I568N probably damaging Het
Dapl1 T C 2: 59,315,072 (GRCm39) V7A probably benign Het
Dhx29 G A 13: 113,083,469 (GRCm39) R508H unknown Het
Dnah9 A G 11: 65,976,299 (GRCm39) I1250T probably benign Het
Dnajb3 C T 1: 88,133,061 (GRCm39) D114N probably benign Het
Dsg1b A G 18: 20,530,986 (GRCm39) N446D probably damaging Het
Dthd1 T A 5: 62,976,136 (GRCm39) V270E probably damaging Het
F2rl3 A C 8: 73,489,536 (GRCm39) R254S possibly damaging Het
Fgfr2 A G 7: 129,863,518 (GRCm39) S24P probably damaging Het
Fpr2 T C 17: 18,113,598 (GRCm39) V198A probably benign Het
Gbp2b G A 3: 142,304,756 (GRCm39) G64D probably damaging Het
Gbp9 T G 5: 105,231,624 (GRCm39) N321H probably damaging Het
Gk2 T A 5: 97,603,725 (GRCm39) Y371F probably benign Het
Gm10382 T C 5: 125,466,462 (GRCm39) probably benign Het
Gpatch3 A G 4: 133,309,855 (GRCm39) D396G probably benign Het
Heatr5a A C 12: 51,962,946 (GRCm39) L985V possibly damaging Het
Homer1 T A 13: 93,528,272 (GRCm39) V269E probably damaging Het
Hspbap1 T C 16: 35,607,692 (GRCm39) V66A probably benign Het
Ighv7-2 A C 12: 113,876,089 (GRCm39) I5M possibly damaging Het
Ints7 T A 1: 191,315,389 (GRCm39) F108Y possibly damaging Het
Itga7 CT CTGGGGATT 10: 128,776,603 (GRCm39) probably null Het
Junb G A 8: 85,705,061 (GRCm39) probably benign Het
Lcp2 A G 11: 34,020,992 (GRCm39) N116S probably benign Het
Lrguk A G 6: 34,006,431 (GRCm39) T14A probably benign Het
Lrrcc1 T A 3: 14,601,092 (GRCm39) H41Q probably damaging Het
Ltb C A 17: 35,414,313 (GRCm39) probably null Het
Mapk7 A G 11: 61,380,080 (GRCm39) S693P possibly damaging Het
Mbd5 A T 2: 49,146,414 (GRCm39) H208L possibly damaging Het
Megf9 A T 4: 70,367,015 (GRCm39) S322R possibly damaging Het
Mgat4c T C 10: 102,224,467 (GRCm39) V227A probably damaging Het
Mospd3 G A 5: 137,597,915 (GRCm39) T151M probably benign Het
Mpl A G 4: 118,313,921 (GRCm39) S115P probably benign Het
Myo6 C A 9: 80,153,799 (GRCm39) D258E probably benign Het
N4bp2 G A 5: 65,960,806 (GRCm39) M492I probably damaging Het
Ndst3 G A 3: 123,465,915 (GRCm39) A19V probably benign Het
Nkx2-3 C A 19: 43,601,082 (GRCm39) T48K probably benign Het
Nlrp4f T C 13: 65,342,803 (GRCm39) T281A probably benign Het
Nmur1 A G 1: 86,315,463 (GRCm39) V157A probably damaging Het
Obscn A T 11: 58,912,780 (GRCm39) F6992L probably damaging Het
Ocm G T 5: 143,961,375 (GRCm39) P22Q possibly damaging Het
Or5be3 T C 2: 86,864,239 (GRCm39) T109A probably damaging Het
Osbp2 C A 11: 3,661,793 (GRCm39) C753F probably damaging Het
Pabpc2 A G 18: 39,907,556 (GRCm39) T274A probably benign Het
Pamr1 T A 2: 102,472,681 (GRCm39) I660N probably damaging Het
Papola C T 12: 105,786,707 (GRCm39) T466I possibly damaging Het
Pask T C 1: 93,249,918 (GRCm39) E494G possibly damaging Het
Pck1 A T 2: 172,997,014 (GRCm39) I219F probably damaging Het
Pgm3 T C 9: 86,452,448 (GRCm39) E4G probably benign Het
Pgs1 A G 11: 117,896,709 (GRCm39) H462R probably damaging Het
Phlpp2 T A 8: 110,667,452 (GRCm39) M1327K probably benign Het
Pkhd1 C A 1: 20,151,452 (GRCm39) G3815W probably damaging Het
Plin4 T A 17: 56,413,981 (GRCm39) I215F possibly damaging Het
Plod1 T G 4: 148,000,701 (GRCm39) probably benign Het
Ppfia2 T C 10: 106,694,146 (GRCm39) S707P probably damaging Het
Psmd12 A G 11: 107,377,259 (GRCm39) Q86R probably benign Het
Rasgrf2 C A 13: 92,138,716 (GRCm39) probably null Het
Rictor T C 15: 6,812,641 (GRCm39) S926P possibly damaging Het
Rras2 A T 7: 113,649,584 (GRCm39) I160N probably benign Het
Slc27a6 A T 18: 58,738,138 (GRCm39) Y398F probably benign Het
Speer4f1 A G 5: 17,685,422 (GRCm39) E239G unknown Het
Sppl2c T C 11: 104,079,141 (GRCm39) I647T probably benign Het
Sptan1 A G 2: 29,921,074 (GRCm39) Y2467C probably damaging Het
Sptbn1 G T 11: 30,104,297 (GRCm39) H136N probably damaging Het
Stau2 T C 1: 16,416,269 (GRCm39) probably null Het
Tasor2 A T 13: 3,624,495 (GRCm39) D1818E probably benign Het
Tet1 T A 10: 62,649,591 (GRCm39) I40F probably damaging Het
Trav7-5 T A 14: 53,768,610 (GRCm39) H59Q probably benign Het
Usp53 T C 3: 122,727,631 (GRCm39) I984V probably benign Het
Wdfy4 A G 14: 32,867,273 (GRCm39) I403T probably benign Het
Yars2 T A 16: 16,127,204 (GRCm39) M423K probably benign Het
Zfp292 A T 4: 34,819,521 (GRCm39) V272D possibly damaging Het
Zmynd11 A T 13: 9,739,603 (GRCm39) V478D possibly damaging Het
Other mutations in Tnfaip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Tnfaip2 APN 12 111,419,983 (GRCm39) missense probably damaging 1.00
IGL01352:Tnfaip2 APN 12 111,412,053 (GRCm39) missense probably damaging 1.00
IGL02550:Tnfaip2 APN 12 111,412,535 (GRCm39) missense probably damaging 1.00
R0103:Tnfaip2 UTSW 12 111,412,244 (GRCm39) missense probably benign 0.38
R0145:Tnfaip2 UTSW 12 111,412,292 (GRCm39) missense possibly damaging 0.87
R0324:Tnfaip2 UTSW 12 111,419,893 (GRCm39) missense probably damaging 1.00
R0609:Tnfaip2 UTSW 12 111,419,941 (GRCm39) missense probably benign 0.01
R0837:Tnfaip2 UTSW 12 111,417,141 (GRCm39) missense probably damaging 1.00
R1353:Tnfaip2 UTSW 12 111,411,403 (GRCm39) missense probably damaging 1.00
R1366:Tnfaip2 UTSW 12 111,415,756 (GRCm39) missense probably benign 0.00
R1988:Tnfaip2 UTSW 12 111,416,325 (GRCm39) critical splice donor site probably null
R2109:Tnfaip2 UTSW 12 111,414,527 (GRCm39) missense probably damaging 1.00
R2147:Tnfaip2 UTSW 12 111,412,456 (GRCm39) missense probably damaging 1.00
R4003:Tnfaip2 UTSW 12 111,417,778 (GRCm39) splice site probably benign
R4402:Tnfaip2 UTSW 12 111,416,285 (GRCm39) missense probably benign 0.43
R4690:Tnfaip2 UTSW 12 111,411,682 (GRCm39) missense possibly damaging 0.66
R5271:Tnfaip2 UTSW 12 111,414,894 (GRCm39) intron probably benign
R6478:Tnfaip2 UTSW 12 111,412,097 (GRCm39) missense probably damaging 1.00
R7623:Tnfaip2 UTSW 12 111,412,072 (GRCm39) missense probably damaging 0.98
R8951:Tnfaip2 UTSW 12 111,412,310 (GRCm39) missense probably benign 0.01
R9168:Tnfaip2 UTSW 12 111,411,382 (GRCm39) missense probably damaging 1.00
R9407:Tnfaip2 UTSW 12 111,412,161 (GRCm39) missense probably benign
R9607:Tnfaip2 UTSW 12 111,412,069 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TGTACGTGCTGCTTTGCGAC -3'
(R):5'- TCAGCTCAAGTGTCTGGCTC -3'

Sequencing Primer
(F):5'- TTTGCGACCAGGTGCTC -3'
(R):5'- TGGCTCTGGTGTCTCAGCAC -3'
Posted On 2015-10-21