Incidental Mutation 'R4464:Ifngr1'
| ID |
330275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifngr1
|
| Ensembl Gene |
ENSMUSG00000020009 |
| Gene Name |
interferon gamma receptor 1 |
| Synonyms |
CD119, Ifgr, IFN-gamma R, Nktar, Ifngr, IFN-gammaR |
| MMRRC Submission |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
19591949-19610229 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19597517 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 72
(V72I)
|
| 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: V72I
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: V72I
| 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 |
noncoding transcript
Transcript: ENSMUST00000110989
|
| 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: 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 |
0.4323 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 63,898,839 (GRCm38) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,358,786 (GRCm38) |
V1111A |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,744 (GRCm38) |
R304* |
probably null |
Het |
| Aldh8a1 |
C |
A |
10: 21,388,941 (GRCm38) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,620,021 (GRCm38) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,248,659 (GRCm38) |
Y204H |
probably damaging |
Het |
| Asnsd1 |
C |
A |
1: 53,352,527 (GRCm38) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 80,100,311 (GRCm38) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,789,517 (GRCm38) |
V53I |
possibly damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm38) |
T331R |
unknown |
Het |
| Dennd1a |
A |
T |
2: 38,243,390 (GRCm38) |
|
probably benign |
Het |
| Fam213a |
T |
A |
14: 40,997,875 (GRCm38) |
K127N |
probably damaging |
Het |
| Gm7535 |
C |
A |
17: 17,911,662 (GRCm38) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,826,999 (GRCm38) |
M970K |
probably damaging |
Het |
| Kifap3 |
C |
A |
1: 163,817,895 (GRCm38) |
Q269K |
probably benign |
Het |
| Krt86 |
G |
A |
15: 101,473,914 (GRCm38) |
D122N |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,557,318 (GRCm38) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,849,502 (GRCm38) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,323,350 (GRCm38) |
N772D |
probably benign |
Het |
| Olfr109 |
C |
T |
17: 37,466,851 (GRCm38) |
S215F |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 17,210,650 (GRCm38) |
N362Y |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,386,813 (GRCm38) |
T1325I |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,934,768 (GRCm38) |
N52S |
possibly damaging |
Het |
| Rb1 |
C |
A |
14: 73,199,198 (GRCm38) |
|
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,069,182 (GRCm38) |
L490P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,966,844 (GRCm38) |
P44S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 110,967,502 (GRCm38) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,137,416 (GRCm38) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,568,274 (GRCm38) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,477,690 (GRCm38) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,390,498 (GRCm38) |
I276V |
probably benign |
Het |
|
| Other mutations in Ifngr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Ifngr1
|
APN |
10 |
19,609,198 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01125:Ifngr1
|
APN |
10 |
19,597,413 (GRCm38) |
splice site |
probably benign |
|
|
IGL01366:Ifngr1
|
APN |
10 |
19,609,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01951:Ifngr1
|
APN |
10 |
19,609,454 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02037:Ifngr1
|
APN |
10 |
19,607,259 (GRCm38) |
missense |
probably benign |
0.26 |
|
Marigold
|
UTSW |
10 |
19,601,485 (GRCm38) |
critical splice donor site |
probably null |
|
|
BB007:Ifngr1
|
UTSW |
10 |
19,609,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB017:Ifngr1
|
UTSW |
10 |
19,609,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0023:Ifngr1
|
UTSW |
10 |
19,609,449 (GRCm38) |
nonsense |
probably null |
|
|
R0325:Ifngr1
|
UTSW |
10 |
19,597,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0590:Ifngr1
|
UTSW |
10 |
19,603,942 (GRCm38) |
splice site |
probably benign |
|
|
R1305:Ifngr1
|
UTSW |
10 |
19,606,253 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1496:Ifngr1
|
UTSW |
10 |
19,601,445 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1597:Ifngr1
|
UTSW |
10 |
19,609,342 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2019:Ifngr1
|
UTSW |
10 |
19,592,113 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2302:Ifngr1
|
UTSW |
10 |
19,609,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2484:Ifngr1
|
UTSW |
10 |
19,601,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4089:Ifngr1
|
UTSW |
10 |
19,601,485 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4863:Ifngr1
|
UTSW |
10 |
19,609,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6045:Ifngr1
|
UTSW |
10 |
19,609,161 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R6047:Ifngr1
|
UTSW |
10 |
19,606,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6089:Ifngr1
|
UTSW |
10 |
19,606,300 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6750:Ifngr1
|
UTSW |
10 |
19,609,351 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6950:Ifngr1
|
UTSW |
10 |
19,607,293 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7162:Ifngr1
|
UTSW |
10 |
19,609,353 (GRCm38) |
missense |
probably benign |
|
|
R7930:Ifngr1
|
UTSW |
10 |
19,609,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8178:Ifngr1
|
UTSW |
10 |
19,609,493 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8436:Ifngr1
|
UTSW |
10 |
19,603,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8975:Ifngr1
|
UTSW |
10 |
19,609,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9451:Ifngr1
|
UTSW |
10 |
19,607,293 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
T0975:Ifngr1
|
UTSW |
10 |
19,609,473 (GRCm38) |
missense |
probably damaging |
0.98 |
|
X0005:Ifngr1
|
UTSW |
10 |
19,609,473 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCATGTCTGTCTTTCTAACG -3'
(R):5'- AAACCTTGGAAGTTAGTCGTGTTTC -3'
Sequencing Primer
(F):5'- AACGTCATCTGATCAGGTTTTCTG -3'
(R):5'- GAAGTTAGTCGTGTTTCTCCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation