Incidental Mutation 'R6047:Ifngr1'
| ID |
483345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifngr1
|
| Ensembl Gene |
ENSMUSG00000020009 |
| Gene Name |
interferon gamma receptor 1 |
| Synonyms |
IFN-gammaR, Ifgr, IFN-gamma R, Ifngr, Nktar, CD119 |
| MMRRC Submission |
044215-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
19467697-19485977 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19482061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 217
(L217P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020188]
[ENSMUST00000164591]
|
| AlphaFold |
P15261 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020188
AA Change: L217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: L217P
| 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: ENSMUST00000171772
|
| SMART Domains |
Protein: ENSMUSP00000127219
Gene: ENSMUSG00000020009
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
9 |
94 |
1e-11 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.5484 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,856,066 (GRCm39) |
I58T |
probably damaging |
Het |
| Adgrb2 |
G |
T |
4: 129,912,498 (GRCm39) |
G1208C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,775,433 (GRCm39) |
|
probably benign |
Het |
| Appl2 |
C |
T |
10: 83,448,765 (GRCm39) |
|
probably null |
Het |
| Bloc1s2 |
T |
C |
19: 44,130,629 (GRCm39) |
I112V |
possibly damaging |
Het |
| Cblb |
G |
T |
16: 51,932,611 (GRCm39) |
|
probably null |
Het |
| Cdk9 |
T |
C |
2: 32,598,285 (GRCm39) |
|
probably null |
Het |
| Dok7 |
G |
A |
5: 35,236,651 (GRCm39) |
G206D |
probably damaging |
Het |
| Ftsj3 |
C |
T |
11: 106,143,144 (GRCm39) |
R390H |
probably damaging |
Het |
| Gpr179 |
G |
T |
11: 97,229,242 (GRCm39) |
P971Q |
probably damaging |
Het |
| Hic1 |
A |
T |
11: 75,057,675 (GRCm39) |
S405T |
possibly damaging |
Het |
| Insrr |
A |
G |
3: 87,711,483 (GRCm39) |
K468E |
probably damaging |
Het |
| Lce1j |
G |
C |
3: 92,696,503 (GRCm39) |
R92G |
unknown |
Het |
| Lrp12 |
T |
C |
15: 39,735,463 (GRCm39) |
E823G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,527,787 (GRCm39) |
I98T |
probably benign |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,212 (GRCm39) |
H179L |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,598,591 (GRCm39) |
C691* |
probably null |
Het |
| Mical1 |
T |
C |
10: 41,357,703 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
T |
9: 37,434,738 (GRCm39) |
Y326F |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,636,314 (GRCm39) |
|
probably null |
Het |
| Nrg3 |
T |
A |
14: 38,119,309 (GRCm39) |
|
probably null |
Het |
| Nt5c3 |
G |
A |
6: 56,859,964 (GRCm39) |
S291L |
probably damaging |
Het |
| Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,217,848 (GRCm39) |
K512E |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,597 (GRCm39) |
F283L |
probably damaging |
Het |
| Pick1 |
A |
G |
15: 79,139,895 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,814,059 (GRCm39) |
V4143A |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 138,028,779 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,451,897 (GRCm39) |
F1342S |
probably benign |
Het |
| Slc17a7 |
A |
T |
7: 44,822,830 (GRCm39) |
I436F |
probably benign |
Het |
| Slc34a1 |
G |
T |
13: 55,559,884 (GRCm39) |
A403S |
probably damaging |
Het |
| Stmn3 |
A |
T |
2: 180,950,952 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Tldc2 |
A |
G |
2: 156,938,382 (GRCm39) |
E207G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
| Uty |
G |
T |
Y: 1,158,288 (GRCm39) |
P538Q |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,756,921 (GRCm39) |
D1142G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGCAGTGTTTAACTAGGAC -3'
(R):5'- TCTCCGAGGAAAGGGACTAC -3'
Sequencing Primer
(F):5'- CTAGGACAGATGCAACGGTTTCC -3'
(R):5'- CCGAGGAAAGGGACTACTAGATATTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation