Incidental Mutation 'IGL00503:Tnfaip6'
ID 332494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfaip6
Ensembl Gene ENSMUSG00000053475
Gene Name tumor necrosis factor alpha induced protein 6
Synonyms TSG-6, Tnfip6, Tsg6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # IGL00503
Quality Score
Status
Chromosome 2
Chromosomal Location 51928125-51946693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 51945859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 235 (V235G)
Ref Sequence ENSEMBL: ENSMUSP00000069231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065927]
AlphaFold O08859
Predicted Effect probably damaging
Transcript: ENSMUST00000065927
AA Change: V235G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069231
Gene: ENSMUSG00000053475
AA Change: V235G

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 69,083,173 (GRCm39) R14* probably null Het
Abcb5 A G 12: 118,871,336 (GRCm39) S688P probably benign Het
Adgb T A 10: 10,281,843 (GRCm39) Q597L possibly damaging Het
Aga G A 8: 53,971,956 (GRCm39) V210I probably benign Het
Akap17b A G X: 35,875,963 (GRCm39) S515P probably damaging Het
Brinp3 A T 1: 146,776,905 (GRCm39) T451S probably benign Het
Cabcoco1 G T 10: 68,377,635 (GRCm39) T18N possibly damaging Het
Ccar2 C T 14: 70,379,980 (GRCm39) W402* probably null Het
Ccdc15 G A 9: 37,231,769 (GRCm39) A185V probably damaging Het
Ccdc50 G A 16: 27,228,102 (GRCm39) E90K probably damaging Het
Cckbr G A 7: 105,083,449 (GRCm39) M217I probably benign Het
Clec16a A G 16: 10,512,513 (GRCm39) T398A possibly damaging Het
Col4a1 A G 8: 11,290,076 (GRCm39) probably benign Het
Cyp4v3 T A 8: 45,760,058 (GRCm39) E498V probably damaging Het
Dgke T C 11: 88,932,327 (GRCm39) I488V probably benign Het
Dip2c A G 13: 9,617,934 (GRCm39) D443G probably damaging Het
Edem3 T G 1: 151,694,264 (GRCm39) S852A probably benign Het
Fbxo8 T A 8: 57,041,058 (GRCm39) M158K probably benign Het
Galnt15 C T 14: 31,774,313 (GRCm39) T359M possibly damaging Het
Herc6 A G 6: 57,584,130 (GRCm39) N330D probably benign Het
Kdf1 T C 4: 133,255,468 (GRCm39) S62P probably damaging Het
Larp4 T A 15: 99,885,302 (GRCm39) I51N probably damaging Het
Mfsd6l T A 11: 68,447,299 (GRCm39) I50N probably damaging Het
Mroh2b A G 15: 4,928,679 (GRCm39) Y4C probably benign Het
Muc17 G T 5: 137,165,971 (GRCm39) Y343* probably null Het
Myom2 A C 8: 15,164,289 (GRCm39) probably null Het
Npat A T 9: 53,483,949 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,617 (GRCm39) I639F possibly damaging Het
Pcsk2 A G 2: 143,635,159 (GRCm39) S345G probably damaging Het
Pcyt1a A G 16: 32,285,919 (GRCm39) T197A probably damaging Het
Pkd1 A G 17: 24,784,401 (GRCm39) M316V probably benign Het
Plekhs1 T C 19: 56,453,031 (GRCm39) probably null Het
Sema3e G T 5: 14,290,586 (GRCm39) R557M probably damaging Het
Sgsm1 T C 5: 113,424,008 (GRCm39) N154S probably benign Het
Smg1 A T 7: 117,784,706 (GRCm39) probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spats1 A T 17: 45,765,011 (GRCm39) probably null Het
Trim34a A T 7: 103,910,538 (GRCm39) T447S probably damaging Het
Tut1 G A 19: 8,936,460 (GRCm39) A95T probably damaging Het
Urgcp C T 11: 5,666,448 (GRCm39) R630Q possibly damaging Het
Vmn1r125 G T 7: 21,006,106 (GRCm39) M1I probably null Het
Vmn2r99 A G 17: 19,599,116 (GRCm39) T267A probably benign Het
Wdr5 A G 2: 27,410,879 (GRCm39) K162E probably benign Het
Zscan26 T G 13: 21,629,271 (GRCm39) K285Q probably damaging Het
Other mutations in Tnfaip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-08-05