Incidental Mutation 'R5658:Tnfaip6'
ID 443916
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 043172-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R5658 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 51928125-51946693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51941047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 196 (Y196F)
Ref Sequence ENSEMBL: ENSMUSP00000069231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065927]
AlphaFold O08859
Predicted Effect possibly damaging
Transcript: ENSMUST00000065927
AA Change: Y196F

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000069231
Gene: ENSMUSG00000053475
AA Change: Y196F

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,644 (GRCm39) L221P probably damaging Het
Art2b A G 7: 101,229,569 (GRCm39) V110A probably damaging Het
Bccip A G 7: 133,319,349 (GRCm39) I147V possibly damaging Het
Bcl9l G T 9: 44,420,466 (GRCm39) G1254W probably damaging Het
Cep68 C T 11: 20,191,885 (GRCm39) probably null Het
Chst5 A G 8: 112,617,422 (GRCm39) V66A probably damaging Het
F5 C A 1: 164,019,907 (GRCm39) T794K probably damaging Het
Faf2 T C 13: 54,789,347 (GRCm39) V55A probably benign Het
Gm7535 T A 17: 18,131,582 (GRCm39) probably benign Het
Itpr3 T C 17: 27,326,852 (GRCm39) V1471A possibly damaging Het
Kbtbd4 T A 2: 90,736,423 (GRCm39) S145T probably benign Het
Kcnh3 C T 15: 99,139,957 (GRCm39) P948S possibly damaging Het
Kcnq1 G A 7: 142,917,432 (GRCm39) probably null Het
Kng2 T C 16: 22,815,770 (GRCm39) probably null Het
Krt9 A G 11: 100,081,593 (GRCm39) I312T probably damaging Het
Lactb2 T A 1: 13,697,642 (GRCm39) H254L probably benign Het
Lama5 A T 2: 179,850,069 (GRCm39) Y187* probably null Het
Ldc1 A G 4: 130,114,234 (GRCm39) V61A probably benign Het
Maf1 T C 15: 76,237,420 (GRCm39) V154A possibly damaging Het
Mlh1 A G 9: 111,076,448 (GRCm39) V303A probably damaging Het
Mrgprh A T 17: 13,096,646 (GRCm39) K295N possibly damaging Het
Mtrr G T 13: 68,717,034 (GRCm39) A393D possibly damaging Het
Myef2l C T 3: 10,153,837 (GRCm39) S202F probably damaging Het
Nebl A G 2: 17,353,663 (GRCm39) Y963H probably damaging Het
Ormdl1 T C 1: 53,348,093 (GRCm39) V145A probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Pmpcb A G 5: 21,943,999 (GRCm39) T78A probably damaging Het
Ptprz1 G A 6: 23,016,188 (GRCm39) R1677Q probably damaging Het
Rad54l2 ACCTCCTCCTCCTCCTCCTCCTCCTC ACCTCCTCCTCCTCCTCCTCCTC 9: 106,631,191 (GRCm39) probably benign Het
Ryr1 A T 7: 28,790,514 (GRCm39) probably null Het
Sh3bp2 T A 5: 34,714,291 (GRCm39) I162N probably damaging Het
Slc38a10 C T 11: 119,996,218 (GRCm39) A960T probably benign Het
Sntb1 C T 15: 55,655,472 (GRCm39) C248Y probably damaging Het
Sowahc G A 10: 59,059,049 (GRCm39) R395H possibly damaging Het
Tbc1d5 T C 17: 51,120,869 (GRCm39) R416G probably benign Het
Tpo A G 12: 30,105,137 (GRCm39) L911P possibly damaging Het
Try5 T C 6: 41,289,361 (GRCm39) R72G probably damaging Het
Vwa8 T C 14: 79,219,838 (GRCm39) probably null 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
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'- GCAAACAATAGCCAGGCATG -3'
(R):5'- AGGATTACTTTCTGCTGGAGAGAG -3'

Sequencing Primer
(F):5'- TCCTATTCCAGCAAAGGAGTGTG -3'
(R):5'- CTTTCTGCTGGAGAGAGTAGAAATAC -3'
Posted On 2016-11-09