Mutagenetix > Incidental Mutation

Incidental Mutation 'R6476:Tnfaip6'

516761

Institutional Source

Beutler Lab

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: 0.155) question?

Stock #

R6476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51928125-51946693 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 51942328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 212 (D212E)

Ref Sequence

ENSEMBL: ENSMUSP00000069231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065927]

AlphaFold

O08859

Predicted Effect

probably benign
Transcript: ENSMUST00000065927
AA Change: D212E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069231
Gene: ENSMUSG00000053475
AA Change: D212E

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	C	2: 154,892,699 (GRCm39)	V126A	probably benign	Het
Adamts20	T	C	15: 94,259,691 (GRCm39)	Q336R	probably benign	Het
Ankrd36	A	G	11: 5,578,753 (GRCm39)	T6A	probably benign	Het
Arhgap33	A	G	7: 30,223,837 (GRCm39)	S731P	probably damaging	Het
Arhgef10l	G	C	4: 140,338,693 (GRCm39)	P23R	probably damaging	Het
Atf7	T	C	15: 102,502,147 (GRCm39)	D3G	probably benign	Het
Caps2	A	G	10: 112,011,465 (GRCm39)	T30A	possibly damaging	Het
Ccdc15	A	T	9: 37,253,715 (GRCm39)	I191N	probably benign	Het
Cep170	A	T	1: 176,607,917 (GRCm39)	S180T	possibly damaging	Het
Chd1	G	A	17: 17,601,250 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,709,534 (GRCm39)	N1887K	unknown	Het
Csgalnact1	C	T	8: 68,913,761 (GRCm39)	S148N	probably damaging	Het
Csgalnact1	T	A	8: 68,913,762 (GRCm39)	S148C	probably damaging	Het
Dnah14	A	G	1: 181,572,333 (GRCm39)	E2888G	probably benign	Het
Dnah7b	T	A	1: 46,281,364 (GRCm39)	Y2808*	probably null	Het
Dock10	A	C	1: 80,518,959 (GRCm39)	L1254*	probably null	Het
Eml2	T	C	7: 18,930,236 (GRCm39)	V511A	probably benign	Het
Eml6	A	G	11: 29,741,971 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,977,755 (GRCm39)	D601Y	probably damaging	Het
Farsa	A	G	8: 85,583,809 (GRCm39)	E49G	probably damaging	Het
Fzd7	A	G	1: 59,523,154 (GRCm39)	M346V	probably damaging	Het
Gatd3a	T	C	10: 78,003,347 (GRCm39)	N102D	probably damaging	Het
Glg1	A	C	8: 111,926,806 (GRCm39)	S170A	possibly damaging	Het
Gpx3	A	T	11: 54,798,025 (GRCm39)	I54F	probably damaging	Het
H6pd	G	A	4: 150,067,184 (GRCm39)	H401Y	probably damaging	Het
Hspb8	A	G	5: 116,560,457 (GRCm39)	S28P	probably damaging	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Krt9	A	T	11: 100,081,640 (GRCm39)	D296E	probably damaging	Het
Lcor	C	T	19: 41,571,518 (GRCm39)	T237I	probably benign	Het
Lnx1	A	G	5: 74,768,541 (GRCm39)	V349A	possibly damaging	Het
Map3k6	A	T	4: 132,977,397 (GRCm39)	S915C	probably damaging	Het
Mecom	C	A	3: 30,034,717 (GRCm39)	A510S	possibly damaging	Het
Mettl14	A	G	3: 123,167,686 (GRCm39)	I224T	probably damaging	Het
Mme	T	C	3: 63,251,056 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,912,227 (GRCm39)	T1187S	probably benign	Het
Ndor1	T	C	2: 25,138,154 (GRCm39)	T444A	possibly damaging	Het
Nhlrc1	A	G	13: 47,167,657 (GRCm39)	L200P	possibly damaging	Het
Npc1	G	T	18: 12,334,751 (GRCm39)	S667*	probably null	Het
Nscme3l	A	C	19: 5,553,253 (GRCm39)	I176S	probably damaging	Het
Or14a256	C	T	7: 86,265,218 (GRCm39)	V212I	probably benign	Het
Or1l8	T	A	2: 36,817,595 (GRCm39)	H177L	possibly damaging	Het
Or4c109	T	A	2: 88,817,721 (GRCm39)	D275V	probably benign	Het
Or51d1	T	A	7: 102,348,310 (GRCm39)	N288K	possibly damaging	Het
Or5g9	T	A	2: 85,551,928 (GRCm39)	Y60N	probably damaging	Het
Pds5a	A	C	5: 65,791,630 (GRCm39)	I773R	possibly damaging	Het
Pgr	T	A	9: 8,964,839 (GRCm39)		probably null	Het
Plscr4	A	T	9: 92,372,819 (GRCm39)	M314L	probably benign	Het
Polr2m	A	G	9: 71,390,752 (GRCm39)	V46A	probably benign	Het
Ptk2b	T	A	14: 66,424,923 (GRCm39)	M174L	possibly damaging	Het
Sec31a	A	T	5: 100,534,008 (GRCm39)	F521I	probably benign	Het
Serpinb3d	T	C	1: 107,011,071 (GRCm39)	N47S	probably benign	Het
Shld2	T	C	14: 33,989,971 (GRCm39)	S312G	probably benign	Het
Slc24a3	T	A	2: 145,448,750 (GRCm39)	D431E	probably benign	Het
Slc34a1	C	A	13: 23,996,569 (GRCm39)	H25N	probably damaging	Het
Slc9a9	T	C	9: 94,567,191 (GRCm39)	F87L	probably benign	Het
Spata31	T	A	13: 65,065,456 (GRCm39)	S54T	possibly damaging	Het
Spata6	T	C	4: 111,632,020 (GRCm39)	S144P	probably damaging	Het
Sppl2c	A	G	11: 104,077,595 (GRCm39)	N132D	probably benign	Het
Ssu2	C	T	6: 112,351,793 (GRCm39)	G311S	probably damaging	Het
Syne1	T	A	10: 5,104,531 (GRCm39)	Q6328L	possibly damaging	Het
Tie1	T	C	4: 118,330,062 (GRCm39)	T1054A	possibly damaging	Het
Tnxb	A	G	17: 34,909,166 (GRCm39)	T1442A	probably damaging	Het
Trim35	C	T	14: 66,546,244 (GRCm39)	T337M	probably damaging	Het
Vipr1	T	C	9: 121,498,489 (GRCm39)	V413A	probably benign	Het
Vmn1r19	C	G	6: 57,381,578 (GRCm39)	Q44E	probably damaging	Het
Zfp1002	T	C	2: 150,097,246 (GRCm39)	D61G	probably benign	Het
Zfp266	G	T	9: 20,410,577 (GRCm39)	H533Q	probably damaging	Het
Zfp689	T	C	7: 127,043,896 (GRCm39)	S245G	probably damaging	Het

Other mutations in Tnfaip6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5658:Tnfaip6	UTSW	2	51,941,047 (GRCm39)	missense	possibly damaging	0.66
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'- AAATGTTCAAGTCAGTCTCTCCCTC -3'
(R):5'- TCACAGAGTTGGCCAAAGTC -3'

Sequencing Primer
(F):5'- GAGTTTGAGGCCAATCTGATCTACAG -3'
(R):5'- CAGAGTTGGCCAAAGTCTTAAC -3'

Posted On

2018-05-21