Incidental Mutation 'R6657:Tnfaip6'
ID 526644
Institutional Source Beutler Lab
Gene Symbol Tnfaip6
Ensembl Gene ENSMUSG00000053475
Gene Name tumor necrosis factor alpha induced protein 6
Synonyms TSG-6, Tnfip6, Tsg6
MMRRC Submission 044778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R6657 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 51928125-51946693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 51933795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 50 (T50N)
Ref Sequence ENSEMBL: ENSMUSP00000069231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065927]
AlphaFold O08859
Predicted Effect probably damaging
Transcript: ENSMUST00000065927
AA Change: T50N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069231
Gene: ENSMUSG00000053475
AA Change: T50N

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LINK 34 129 1.06e-53 SMART
CUB 135 247 2.66e-47 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]
PHENOTYPE: Females lacking functional copies of this gene are infertile due to failed cumulus-oocyte complex expansion. Mice show attenuated acute allergic pulmonary inflammation and are resistant to induction of airway hyperresponsiveness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T G 8: 106,435,450 (GRCm39) L36R probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Akr1b7 A C 6: 34,393,135 (GRCm39) D106A probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Chst5 C T 8: 112,616,906 (GRCm39) R238Q probably benign Het
Cpxm2 T C 7: 131,650,806 (GRCm39) Y618C probably damaging Het
Csnk1d T C 11: 120,855,820 (GRCm39) E405G possibly damaging Het
Ctsh A T 9: 89,942,555 (GRCm39) M37L probably benign Het
Eml5 T G 12: 98,757,664 (GRCm39) I1843L probably damaging Het
Ep400 C A 5: 110,841,411 (GRCm39) probably benign Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Gpc5 A G 14: 115,607,610 (GRCm39) H404R probably benign Het
Hyal6 A G 6: 24,734,757 (GRCm39) D230G possibly damaging Het
Itga5 T C 15: 103,259,222 (GRCm39) D735G probably damaging Het
Kansl2 T A 15: 98,422,551 (GRCm39) Q339L possibly damaging Het
Lrp4 T A 2: 91,322,398 (GRCm39) M1078K probably benign Het
Mmp24 A T 2: 155,640,099 (GRCm39) Y143F probably damaging Het
Mroh7 A T 4: 106,559,697 (GRCm39) C743* probably null Het
Myh14 T C 7: 44,287,270 (GRCm39) N618D probably damaging Het
Myo19 A T 11: 84,788,022 (GRCm39) M324L probably benign Het
Nectin2 T C 7: 19,472,065 (GRCm39) N108S probably benign Het
Nrg2 A G 18: 36,329,642 (GRCm39) I191T probably damaging Het
Odf4 T C 11: 68,817,638 (GRCm39) N18D probably benign Het
Or5aq6 T A 2: 86,923,403 (GRCm39) I113F probably benign Het
Pcsk2 T G 2: 143,532,286 (GRCm39) L145V probably damaging Het
Pdzrn3 C A 6: 101,127,983 (GRCm39) Q894H probably benign Het
Pfpl G A 19: 12,407,290 (GRCm39) V514I probably benign Het
Plbd1 A T 6: 136,594,250 (GRCm39) M333K probably damaging Het
Plec A T 15: 76,062,356 (GRCm39) M2554K possibly damaging Het
Psmb5 A G 14: 54,851,840 (GRCm39) Y115H possibly damaging Het
Rictor A G 15: 6,788,977 (GRCm39) N198D possibly damaging Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Sec16a C T 2: 26,315,876 (GRCm39) W262* probably null Het
Sfmbt1 A G 14: 30,488,053 (GRCm39) D8G possibly damaging Het
Sptbn5 T G 2: 119,906,881 (GRCm39) probably benign Het
Sqor A G 2: 122,649,514 (GRCm39) D139G possibly damaging Het
Sugt1 A T 14: 79,844,701 (GRCm39) T139S probably benign Het
Tcp11 G A 17: 28,290,646 (GRCm39) P159S probably damaging Het
Tmem262 A G 19: 6,130,542 (GRCm39) T89A possibly damaging Het
Ttll9 T C 2: 152,826,182 (GRCm39) Y131H probably damaging Het
Vmn1r173 T A 7: 23,402,320 (GRCm39) M185K probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r52 G A 7: 9,893,090 (GRCm39) T683I probably damaging Het
Vps53 A T 11: 76,025,253 (GRCm39) I197N probably damaging Het
Washc4 T A 10: 83,394,482 (GRCm39) F269L possibly damaging Het
Wdfy4 C T 14: 32,769,208 (GRCm39) V2086M possibly damaging Het
Zfp592 A T 7: 80,675,234 (GRCm39) T733S possibly damaging Het
Zfp599 A G 9: 22,161,538 (GRCm39) F209S probably damaging Het
Other mutations in Tnfaip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Tnfaip6 APN 2 51,945,859 (GRCm39) missense probably damaging 1.00
IGL01565:Tnfaip6 APN 2 51,945,846 (GRCm39) missense probably damaging 1.00
R0118:Tnfaip6 UTSW 2 51,933,827 (GRCm39) nonsense probably null
R0279:Tnfaip6 UTSW 2 51,945,928 (GRCm39) missense possibly damaging 0.95
R2138:Tnfaip6 UTSW 2 51,942,344 (GRCm39) missense possibly damaging 0.51
R2152:Tnfaip6 UTSW 2 51,933,742 (GRCm39) missense probably damaging 1.00
R2240:Tnfaip6 UTSW 2 51,940,926 (GRCm39) missense probably benign 0.16
R3877:Tnfaip6 UTSW 2 51,942,339 (GRCm39) missense probably benign 0.27
R4235:Tnfaip6 UTSW 2 51,940,876 (GRCm39) missense probably damaging 0.99
R4857:Tnfaip6 UTSW 2 51,941,086 (GRCm39) splice site probably null
R5658:Tnfaip6 UTSW 2 51,941,047 (GRCm39) missense possibly damaging 0.66
R6476:Tnfaip6 UTSW 2 51,942,328 (GRCm39) missense probably benign
R7424:Tnfaip6 UTSW 2 51,928,228 (GRCm39) missense probably benign 0.00
R7980:Tnfaip6 UTSW 2 51,941,070 (GRCm39) missense probably damaging 1.00
R8353:Tnfaip6 UTSW 2 51,945,879 (GRCm39) missense probably benign 0.00
R8453:Tnfaip6 UTSW 2 51,945,879 (GRCm39) missense probably benign 0.00
R8772:Tnfaip6 UTSW 2 51,941,077 (GRCm39) missense possibly damaging 0.95
R8798:Tnfaip6 UTSW 2 51,933,824 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- TAACTACCGTGGCAGCTGAC -3'
(R):5'- ATCACATAGAGAATGGTCCCAAAG -3'

Sequencing Primer
(F):5'- CGTGGCAGCTGACCTAGAAATTTC -3'
(R):5'- ATGGTCCCAAAGGGCTTG -3'
Posted On 2018-07-23