Incidental Mutation 'R0118:Tnfaip6'
ID 20905
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 038404-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R0118 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 51928125-51946693 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 51933827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 61 (E61*)
Ref Sequence ENSEMBL: ENSMUSP00000069231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065927]
AlphaFold O08859
Predicted Effect probably null
Transcript: ENSMUST00000065927
AA Change: E61*
SMART Domains Protein: ENSMUSP00000069231
Gene: ENSMUSG00000053475
AA Change: E61*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
LINK 34 129 1.06e-53 SMART
CUB 135 247 2.66e-47 SMART
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.2%
  • 10x: 89.3%
  • 20x: 67.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T C 9: 30,823,040 (GRCm39) R343G probably damaging Het
Asxl2 T G 12: 3,546,923 (GRCm39) V569G probably damaging Het
Azin2 A C 4: 128,843,430 (GRCm39) H85Q probably damaging Het
Cacna1a C T 8: 85,262,712 (GRCm39) R324C probably damaging Het
Ccr3 C A 9: 123,829,647 (GRCm39) Y327* probably null Het
Cers2 T C 3: 95,227,537 (GRCm39) F55S probably benign Het
Cic C T 7: 24,985,459 (GRCm39) S301L probably damaging Het
Cntnap2 T C 6: 45,037,326 (GRCm39) probably null Het
Cpn2 T C 16: 30,079,186 (GRCm39) R172G probably benign Het
Ctdnep1 T C 11: 69,879,557 (GRCm39) probably null Het
Dennd3 T A 15: 73,436,925 (GRCm39) Y1051N probably damaging Het
Dmap1 T G 4: 117,533,680 (GRCm39) Y196S probably damaging Het
Entpd7 G A 19: 43,692,751 (GRCm39) W102* probably null Het
Frem2 A T 3: 53,442,664 (GRCm39) C2624* probably null Het
Gdpd3 A G 7: 126,370,165 (GRCm39) Y238C probably damaging Het
Gjb3 A G 4: 127,220,451 (GRCm39) V27A probably damaging Het
Kat6b T C 14: 21,720,042 (GRCm39) F1465L probably damaging Het
Klra17 A T 6: 129,808,552 (GRCm39) M227K probably benign Het
Map6 A G 7: 98,966,824 (GRCm39) D348G possibly damaging Het
Mapkbp1 T C 2: 119,855,696 (GRCm39) S1472P probably benign Het
Megf6 C A 4: 154,339,098 (GRCm39) P545Q probably damaging Het
Mertk C T 2: 128,601,086 (GRCm39) R357W probably damaging Het
Mesd T A 7: 83,544,835 (GRCm39) I104N probably damaging Het
Mrm3 T A 11: 76,140,781 (GRCm39) V263E possibly damaging Het
Ndst4 T A 3: 125,405,210 (GRCm39) Y488* probably null Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nfs1 T C 2: 155,976,444 (GRCm39) H150R probably damaging Het
Odad3 A T 9: 21,906,353 (GRCm39) N224K probably benign Het
Or1n1b A G 2: 36,780,035 (GRCm39) M275T probably benign Het
Or8b56 T C 9: 38,739,154 (GRCm39) S50P possibly damaging Het
Or8g19 T A 9: 39,055,399 (GRCm39) M1K probably null Het
Or9q1 A G 19: 13,804,929 (GRCm39) F277S possibly damaging Het
Pcdh8 T C 14: 80,004,848 (GRCm39) Y1059C probably damaging Het
Pik3r5 T A 11: 68,381,306 (GRCm39) L164Q probably damaging Het
Polr3g T C 13: 81,824,240 (GRCm39) probably benign Het
Ppm1e T A 11: 87,122,564 (GRCm39) K464N probably benign Het
Rims1 T C 1: 22,416,631 (GRCm39) T1037A probably damaging Het
Rpgrip1l A T 8: 91,996,750 (GRCm39) I108N probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Spem1 T C 11: 69,712,371 (GRCm39) K98E possibly damaging Het
St7l T C 3: 104,796,619 (GRCm39) V237A probably damaging Het
Tbc1d16 T C 11: 119,048,642 (GRCm39) H337R probably damaging Het
Tbc1d32 T A 10: 55,893,701 (GRCm39) I1291F probably benign Het
Trib2 A T 12: 15,843,929 (GRCm39) W102R probably damaging Het
Uimc1 G T 13: 55,233,457 (GRCm39) N66K probably damaging Het
Vmn1r63 T A 7: 5,805,838 (GRCm39) T265S probably benign Het
Vps35 G A 8: 86,021,582 (GRCm39) T3I probably benign Het
Yeats2 T A 16: 19,975,692 (GRCm39) L63* probably null Het
Zfp282 A G 6: 47,869,866 (GRCm39) R304G probably benign 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
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
R6657:Tnfaip6 UTSW 2 51,933,795 (GRCm39) missense probably damaging 1.00
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'- ATCCTCCCGCTGGGGCAAAATTTC -3'
(R):5'- ATTCTCACTGGATGGTGCCCAACC -3'

Sequencing Primer
(F):5'- GGGCAAAATTTCCTTTGTTCCAC -3'
(R):5'- GAGATGCTGTTACCAGGAACTTC -3'
Posted On 2013-04-11