Incidental Mutation 'IGL01479:Tigit'
| ID |
88553 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tigit
|
| Ensembl Gene |
ENSMUSG00000071552 |
| Gene Name |
T cell immunoreceptor with Ig and ITIM domains |
| Synonyms |
ENSMUSG00000071552, Vstm3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
43469230-43484509 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43479885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 137
(T137A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096065]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096065
AA Change: T137A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093770
Gene: ENSMUSG00000071552
AA Change: T137A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
27 |
N/A |
INTRINSIC |
|
IG
|
31 |
128 |
3.15e-10 |
SMART |
|
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased T cell proliferation, antigen presenting cell stimuation of T cell proliferation, and susceptibility to EAE. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,322,934 (GRCm39) |
K225R |
probably benign |
Het |
| Amn |
C |
A |
12: 111,238,227 (GRCm39) |
A47E |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,612,028 (GRCm39) |
I137T |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,604,635 (GRCm39) |
K165E |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,292,859 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,846,543 (GRCm39) |
V2923A |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 86,280,580 (GRCm39) |
Y35C |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,962,891 (GRCm39) |
T481A |
probably damaging |
Het |
| Foxred2 |
A |
G |
15: 77,836,489 (GRCm39) |
|
probably null |
Het |
| Gin1 |
C |
T |
1: 97,720,097 (GRCm39) |
T364I |
possibly damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,496,570 (GRCm39) |
V163I |
probably damaging |
Het |
| Gm10118 |
T |
C |
10: 63,762,599 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,412,366 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,261,738 (GRCm39) |
K638E |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,560,593 (GRCm39) |
T285A |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,691,253 (GRCm39) |
Y280C |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 145,881,407 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
G |
T |
8: 71,811,986 (GRCm39) |
R1926L |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,853,641 (GRCm39) |
V1251A |
probably benign |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,168 (GRCm39) |
D200G |
probably damaging |
Het |
| Sbsn |
G |
A |
7: 30,451,782 (GRCm39) |
A266T |
possibly damaging |
Het |
| Sgca |
A |
T |
11: 94,854,204 (GRCm39) |
C335* |
probably null |
Het |
| Spag1 |
T |
C |
15: 36,233,345 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tmem125 |
G |
A |
4: 118,398,820 (GRCm39) |
Q204* |
probably null |
Het |
| Tmem59l |
C |
T |
8: 70,938,748 (GRCm39) |
R111Q |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,124 (GRCm39) |
G448R |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,599 (GRCm39) |
H49R |
probably damaging |
Het |
|
| Other mutations in Tigit |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02085:Tigit
|
APN |
16 |
43,469,473 (GRCm39) |
missense |
probably benign |
|
|
IGL02896:Tigit
|
APN |
16 |
43,482,561 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0446:Tigit
|
UTSW |
16 |
43,482,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Tigit
|
UTSW |
16 |
43,482,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1137:Tigit
|
UTSW |
16 |
43,469,485 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1423:Tigit
|
UTSW |
16 |
43,469,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1943:Tigit
|
UTSW |
16 |
43,469,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4900:Tigit
|
UTSW |
16 |
43,469,594 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4921:Tigit
|
UTSW |
16 |
43,482,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Tigit
|
UTSW |
16 |
43,482,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Tigit
|
UTSW |
16 |
43,479,876 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9275:Tigit
|
UTSW |
16 |
43,479,833 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9427:Tigit
|
UTSW |
16 |
43,482,515 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1176:Tigit
|
UTSW |
16 |
43,482,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-11-18 |
Incidental Mutation