Incidental Mutation 'IGL02037:Ifngr1'
| ID |
184542 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifngr1
|
| Ensembl Gene |
ENSMUSG00000020009 |
| Gene Name |
interferon gamma receptor 1 |
| Synonyms |
IFN-gammaR, Ifgr, IFN-gamma R, Ifngr, Nktar, CD119 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02037
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
19467697-19485977 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19483007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 254
(S254P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020188]
[ENSMUST00000164591]
|
| AlphaFold |
P15261 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020188
AA Change: S254P
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: S254P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
9 |
119 |
2.2e-27 |
PFAM |
|
Pfam:Interfer-bind
|
131 |
245 |
8.5e-9 |
PFAM |
|
Pfam:IFNGR1
|
168 |
331 |
1.6e-53 |
PFAM |
|
low complexity region
|
401 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164591
|
| SMART Domains |
Protein: ENSMUSP00000129309
Gene: ENSMUSG00000020009
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
9 |
74 |
2.3e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172253
|
| SMART Domains |
Protein: ENSMUSP00000127484
Gene: ENSMUSG00000020009
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
42 |
64 |
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 (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutant allele exhibit increased susceptibility to viral infection and experimental autoimmune uveoretinitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
A |
6: 92,804,997 (GRCm39) |
|
probably benign |
Het |
| Ace2 |
T |
A |
X: 162,946,996 (GRCm39) |
V293D |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,317,185 (GRCm39) |
Y545C |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,376,742 (GRCm39) |
T293A |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,973,707 (GRCm39) |
T65A |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,956,682 (GRCm39) |
|
probably null |
Het |
| Cbfb |
T |
C |
8: 105,905,252 (GRCm39) |
S65P |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,576 (GRCm39) |
S604P |
possibly damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,191,643 (GRCm39) |
V271A |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,371,263 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,038,559 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,007 (GRCm39) |
T492A |
probably benign |
Het |
| Fam3a |
G |
A |
X: 73,430,241 (GRCm39) |
T156I |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,229,087 (GRCm39) |
C708S |
probably damaging |
Het |
| Fgf5 |
G |
A |
5: 98,409,831 (GRCm39) |
G127R |
probably damaging |
Het |
| Fhip1a |
T |
G |
3: 85,637,939 (GRCm39) |
K120T |
probably damaging |
Het |
| Fn3k |
A |
T |
11: 121,325,909 (GRCm39) |
Y32F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,338,118 (GRCm39) |
I137T |
probably benign |
Het |
| Hc |
T |
C |
2: 34,903,531 (GRCm39) |
D1041G |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,655,708 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,309,553 (GRCm39) |
A598T |
probably benign |
Het |
| Kel |
T |
C |
6: 41,674,408 (GRCm39) |
S341G |
probably benign |
Het |
| Klra6 |
A |
C |
6: 129,990,439 (GRCm39) |
M224R |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,183,522 (GRCm39) |
|
probably null |
Het |
| Mpeg1 |
C |
T |
19: 12,440,660 (GRCm39) |
T706I |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Or5al7 |
G |
T |
2: 85,993,181 (GRCm39) |
F37L |
probably benign |
Het |
| Palld |
T |
C |
8: 61,978,148 (GRCm39) |
R881G |
probably damaging |
Het |
| Pdha2 |
A |
T |
3: 140,916,662 (GRCm39) |
V282E |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,654,065 (GRCm39) |
R46Q |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,068,122 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,622,479 (GRCm39) |
T527A |
probably benign |
Het |
| Rplp0 |
G |
A |
5: 115,699,174 (GRCm39) |
R73Q |
probably benign |
Het |
| Smco3 |
A |
G |
6: 136,808,197 (GRCm39) |
*226R |
probably null |
Het |
| Sugp2 |
T |
C |
8: 70,712,324 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,846,098 (GRCm39) |
I343V |
probably benign |
Het |
| Ube2q2 |
A |
G |
9: 55,075,502 (GRCm39) |
K104E |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,925,506 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
C |
X: 20,585,381 (GRCm39) |
I785T |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,626,026 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,555,185 (GRCm39) |
V721A |
possibly damaging |
Het |
| Zfp946 |
T |
C |
17: 22,672,469 (GRCm39) |
S23P |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,594,694 (GRCm39) |
V766A |
probably damaging |
Het |
|
| Other mutations in Ifngr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Ifngr1
|
APN |
10 |
19,484,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01125:Ifngr1
|
APN |
10 |
19,473,161 (GRCm39) |
splice site |
probably benign |
|
|
IGL01366:Ifngr1
|
APN |
10 |
19,485,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Ifngr1
|
APN |
10 |
19,485,202 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Marigold
|
UTSW |
10 |
19,477,233 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB007:Ifngr1
|
UTSW |
10 |
19,484,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB017:Ifngr1
|
UTSW |
10 |
19,484,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Ifngr1
|
UTSW |
10 |
19,485,197 (GRCm39) |
nonsense |
probably null |
|
|
R0325:Ifngr1
|
UTSW |
10 |
19,473,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Ifngr1
|
UTSW |
10 |
19,479,690 (GRCm39) |
splice site |
probably benign |
|
|
R1305:Ifngr1
|
UTSW |
10 |
19,482,001 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1496:Ifngr1
|
UTSW |
10 |
19,477,193 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1597:Ifngr1
|
UTSW |
10 |
19,485,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2019:Ifngr1
|
UTSW |
10 |
19,467,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2302:Ifngr1
|
UTSW |
10 |
19,485,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Ifngr1
|
UTSW |
10 |
19,477,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Ifngr1
|
UTSW |
10 |
19,477,233 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4464:Ifngr1
|
UTSW |
10 |
19,473,265 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4863:Ifngr1
|
UTSW |
10 |
19,485,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Ifngr1
|
UTSW |
10 |
19,484,909 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6047:Ifngr1
|
UTSW |
10 |
19,482,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Ifngr1
|
UTSW |
10 |
19,482,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6750:Ifngr1
|
UTSW |
10 |
19,485,099 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6950:Ifngr1
|
UTSW |
10 |
19,483,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Ifngr1
|
UTSW |
10 |
19,485,101 (GRCm39) |
missense |
probably benign |
|
|
R7930:Ifngr1
|
UTSW |
10 |
19,484,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Ifngr1
|
UTSW |
10 |
19,485,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8436:Ifngr1
|
UTSW |
10 |
19,479,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Ifngr1
|
UTSW |
10 |
19,485,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Ifngr1
|
UTSW |
10 |
19,483,041 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
T0975:Ifngr1
|
UTSW |
10 |
19,485,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0005:Ifngr1
|
UTSW |
10 |
19,485,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-05-07 |
Incidental Mutation