Incidental Mutation 'IGL01565:Tnfaip6'
| ID |
90948 |
| 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)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
51928125-51946693 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51945846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 231
(S231G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065927]
|
| AlphaFold |
O08859 |
| 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
| 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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
| Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
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 |
|
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 |
2013-12-09 |
Incidental Mutation