|Institutional Source||Beutler Lab|
|Gene Name||tumor necrosis factor alpha induced protein 6|
|Synonyms||Tnfip6, TSG-6, Tsg6|
|Is this an essential gene?||Probably non essential (E-score: 0.208)|
|Stock #||R4235 (G1)|
|Chromosomal Location||52038009-52056686 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 52050864 bp|
|Amino Acid Change||Phenylalanine to Serine at position 139 (F139S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069231 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065927]|
|Predicted Effect||probably damaging
AA Change: F139S
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: F139S
|Meta Mutation Damage Score||0.3042|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
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||
|Other mutations in Tnfaip6||
(F):5'- GCAAACAATAGCCAGGCATG -3'
(R):5'- GCCGTGGACGTCATCATAACTG -3'
(F):5'- TGGTTACACACACACACAGAGAGAG -3'
(R):5'- CGTGGACGTCATCATAACTGTCATAG -3'