Incidental Mutation 'IGL01951:Ifngr1'
| ID |
181032 |
| 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 # |
IGL01951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
19467697-19485977 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 19485202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 400
(N400K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020188]
[ENSMUST00000164591]
|
| AlphaFold |
P15261 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020188
AA Change: N400K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: N400K
| 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
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
G |
4: 103,092,865 (GRCm39) |
I152T |
probably damaging |
Het |
| A2m |
C |
T |
6: 121,644,149 (GRCm39) |
T949I |
possibly damaging |
Het |
| Begain |
T |
A |
12: 108,999,571 (GRCm39) |
Y605F |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,570 (GRCm39) |
E9G |
possibly damaging |
Het |
| Cdh16 |
A |
G |
8: 105,344,323 (GRCm39) |
V72A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,844,638 (GRCm39) |
L268P |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,514,669 (GRCm39) |
Y28F |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Fli1 |
A |
T |
9: 32,372,660 (GRCm39) |
F126Y |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21957 |
A |
T |
7: 124,819,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,841,280 (GRCm39) |
R618* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,633 (GRCm39) |
E25G |
probably damaging |
Het |
| Lin7a |
G |
A |
10: 107,247,886 (GRCm39) |
V186I |
possibly damaging |
Het |
| Lpcat2 |
G |
T |
8: 93,644,675 (GRCm39) |
S448I |
probably damaging |
Het |
| Lrp10 |
C |
A |
14: 54,706,119 (GRCm39) |
Y436* |
probably null |
Het |
| Myef2l |
G |
A |
3: 10,154,118 (GRCm39) |
V296M |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,816,991 (GRCm39) |
H707R |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,800,449 (GRCm39) |
N1147D |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,351 (GRCm39) |
D189E |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,438,853 (GRCm39) |
D299G |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,741 (GRCm39) |
S299P |
probably benign |
Het |
| Panx2 |
A |
G |
15: 88,952,970 (GRCm39) |
D487G |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,158 (GRCm39) |
N211S |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,917,644 (GRCm39) |
Y27C |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,306,460 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
A |
T |
5: 114,104,308 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Stx2 |
A |
T |
5: 129,069,329 (GRCm39) |
F127L |
probably damaging |
Het |
| Synm |
A |
T |
7: 67,388,885 (GRCm39) |
I325N |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,690 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,007,048 (GRCm39) |
|
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,739 (GRCm39) |
|
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,726,096 (GRCm39) |
L354V |
probably benign |
Het |
| Trafd1 |
G |
A |
5: 121,512,094 (GRCm39) |
R399C |
possibly damaging |
Het |
| Trem3 |
C |
T |
17: 48,556,903 (GRCm39) |
R125W |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,780,686 (GRCm39) |
Y92* |
probably null |
Het |
| Wnk1 |
T |
A |
6: 119,940,446 (GRCm39) |
T62S |
probably damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,343 (GRCm39) |
E195G |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,829 (GRCm39) |
D306G |
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 |
|
IGL02037:Ifngr1
|
APN |
10 |
19,483,007 (GRCm39) |
missense |
probably benign |
0.26 |
|
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