Incidental Mutation 'IGL01565:Tnfaip6'
ID90948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfaip6
Ensembl Gene ENSMUSG00000053475
Gene Nametumor necrosis factor alpha induced protein 6
SynonymsTnfip6, TSG-6, Tsg6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #IGL01565
Quality Score
Status
Chromosome2
Chromosomal Location52038009-52056686 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52055834 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 231 (S231G)
Ref Sequence ENSEMBL: ENSMUSP00000069231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065927]
Predicted Effect probably damaging
Transcript: ENSMUST00000065927
AA Change: S231G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069231
Gene: ENSMUSG00000053475
AA Change: S231G

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,603,360 T36A probably damaging Het
Ankrd35 A G 3: 96,684,785 M796V probably damaging Het
Brpf1 A T 6: 113,316,650 Q560L probably damaging Het
Dbil5 T G 11: 76,218,265 probably benign Het
Dnah9 T C 11: 66,033,829 K2200E possibly damaging Het
Gtf2i T C 5: 134,255,913 I471V probably damaging Het
Has3 T A 8: 106,874,445 W180R probably benign Het
Lrfn1 T C 7: 28,458,769 C38R probably damaging Het
Lrsam1 C T 2: 32,936,495 A455T probably damaging Het
Mettl2 C A 11: 105,126,538 D14E probably benign Het
Mocs1 G A 17: 49,452,320 R364Q probably benign Het
Ndst2 A T 14: 20,728,206 V435E probably damaging Het
Pi4ka A T 16: 17,389,442 probably benign Het
Pigr A C 1: 130,844,474 D143A possibly damaging Het
Polq A C 16: 37,013,113 N56T probably benign Het
Prmt7 T G 8: 106,250,409 D584E probably damaging Het
R3hdm1 A T 1: 128,186,816 Q511H probably damaging Het
Rbm33 T C 5: 28,391,079 probably benign Het
Rdh19 T G 10: 127,859,595 M226R probably benign Het
Rock2 G A 12: 16,953,317 D386N possibly damaging Het
Slc7a2 A G 8: 40,899,238 T96A possibly damaging Het
Spata2 A G 2: 167,484,294 S202P probably damaging Het
Swsap1 T A 9: 21,957,228 D265E possibly damaging Het
Tdrd3 A T 14: 87,472,232 I117L probably benign Het
Ticrr A G 7: 79,694,548 D1387G probably benign Het
Trim50 T A 5: 135,367,501 D434E probably benign Het
Tyw5 T C 1: 57,394,081 Y105C probably damaging Het
Usp50 G T 2: 126,777,968 C141* probably null Het
Zfp647 A T 15: 76,911,670 C263* probably null Het
Other mutations in Tnfaip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Tnfaip6 APN 2 52055847 missense probably damaging 1.00
R0118:Tnfaip6 UTSW 2 52043815 nonsense probably null
R0279:Tnfaip6 UTSW 2 52055916 missense possibly damaging 0.95
R2138:Tnfaip6 UTSW 2 52052332 missense possibly damaging 0.51
R2152:Tnfaip6 UTSW 2 52043730 missense probably damaging 1.00
R2240:Tnfaip6 UTSW 2 52050914 missense probably benign 0.16
R3877:Tnfaip6 UTSW 2 52052327 missense probably benign 0.27
R4235:Tnfaip6 UTSW 2 52050864 missense probably damaging 0.99
R4857:Tnfaip6 UTSW 2 52051074 splice site probably null
R5658:Tnfaip6 UTSW 2 52051035 missense possibly damaging 0.66
R6476:Tnfaip6 UTSW 2 52052316 missense probably benign
R6657:Tnfaip6 UTSW 2 52043783 missense probably damaging 1.00
R7424:Tnfaip6 UTSW 2 52038216 missense probably benign 0.00
Posted On2013-12-09