Incidental Mutation 'R4089:Ifngr1'
ID368308
Institutional Source Beutler Lab
Gene Symbol Ifngr1
Ensembl Gene ENSMUSG00000020009
Gene Nameinterferon gamma receptor 1
SynonymsCD119, Ifgr, IFN-gamma R, Nktar, Ifngr, IFN-gammaR
MMRRC Submission 040982-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4089 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location19591949-19610229 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 19601485 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020188] [ENSMUST00000020188] [ENSMUST00000164591]
Predicted Effect probably null
Transcript: ENSMUST00000020188
SMART Domains Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000020188
SMART Domains Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Tissue_fac 9 94 1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172253
SMART Domains Protein: ENSMUSP00000127484
Gene: ENSMUSG00000020009

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
Meta Mutation Damage Score 0.428 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (51/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,794,154 C172* probably null Het
A530064D06Rik A G 17: 48,166,510 S80P probably damaging Het
Acss3 T G 10: 107,053,452 Y169S probably damaging Het
Actr5 T C 2: 158,625,102 probably benign Het
Arhgef17 T A 7: 100,883,799 E1173V probably damaging Het
Brca1 T C 11: 101,524,176 N1044S possibly damaging Het
Cap1 A G 4: 122,862,409 V398A probably benign Het
Cbs A C 17: 31,633,006 C8G probably benign Het
Csmd1 T A 8: 15,992,738 I2332F probably damaging Het
Ddx4 A G 13: 112,613,761 V386A probably benign Het
Dip2a T C 10: 76,278,489 probably null Het
Dock9 A T 14: 121,583,471 C1494S probably damaging Het
Ehbp1 A T 11: 22,095,898 L592Q possibly damaging Het
Fbn2 C T 18: 58,053,769 D1687N probably benign Het
Flt1 C A 5: 147,564,241 L1327F probably benign Het
Frem3 T C 8: 80,615,173 F1365S probably damaging Het
Gigyf2 A G 1: 87,443,672 E1169G probably damaging Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gm14443 T C 2: 175,171,892 Y29C probably damaging Het
Gpr108 A G 17: 57,237,925 Y313H probably damaging Het
Il31ra C T 13: 112,551,919 W41* probably null Het
Ints4 T A 7: 97,529,255 Y687* probably null Het
Jpt2 A G 17: 24,956,102 S37P probably benign Het
Kcnk9 A G 15: 72,546,263 V6A probably benign Het
Lamc3 C T 2: 31,920,508 R797* probably null Het
Lrig1 A G 6: 94,609,859 I612T possibly damaging Het
Mapk4 C A 18: 73,930,459 C564F probably damaging Het
Marveld2 T A 13: 100,600,480 H215L probably benign Het
Mindy3 T C 2: 12,364,516 M84V probably benign Het
Nek3 T C 8: 22,149,913 D182G probably damaging Het
Olfr1328 C T 4: 118,934,033 E272K probably benign Het
Pkp3 G A 7: 141,084,143 R411H probably damaging Het
Plau A G 14: 20,841,066 D366G probably damaging Het
Prkd3 A G 17: 78,971,388 M423T possibly damaging Het
Prmt9 A T 8: 77,572,545 I623L probably benign Het
Rgs6 A T 12: 83,063,487 E175D probably damaging Het
Rnf135 G A 11: 80,199,046 G403S probably damaging Het
Scn11a C T 9: 119,795,653 probably null Het
Snap23 C T 2: 120,584,375 probably benign Het
Sos1 A G 17: 80,449,352 V257A probably benign Het
Sox10 C T 15: 79,156,363 V165M possibly damaging Het
Sypl2 A G 3: 108,217,676 I123T possibly damaging Het
Tex14 A G 11: 87,512,203 D533G probably damaging Het
Topbp1 T C 9: 103,324,501 probably null Het
Trim30d T C 7: 104,487,800 N66D probably damaging Het
Trim65 G A 11: 116,126,479 Q386* probably null Het
Trip4 A G 9: 65,858,283 V378A probably benign Het
Vmn2r115 A C 17: 23,346,384 Q415P probably benign Het
Washc2 A T 6: 116,256,292 probably null Het
Other mutations in Ifngr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Ifngr1 APN 10 19609198 missense probably damaging 0.99
IGL01125:Ifngr1 APN 10 19597413 splice site probably benign
IGL01366:Ifngr1 APN 10 19609600 missense probably damaging 1.00
IGL01951:Ifngr1 APN 10 19609454 missense possibly damaging 0.94
IGL02037:Ifngr1 APN 10 19607259 missense probably benign 0.26
marigold UTSW 10 19601485 critical splice donor site probably null
R0023:Ifngr1 UTSW 10 19609449 nonsense probably null
R0325:Ifngr1 UTSW 10 19597432 missense probably damaging 1.00
R0590:Ifngr1 UTSW 10 19603942 splice site probably benign
R1305:Ifngr1 UTSW 10 19606253 missense possibly damaging 0.91
R1496:Ifngr1 UTSW 10 19601445 missense probably benign 0.04
R1597:Ifngr1 UTSW 10 19609342 missense probably damaging 0.99
R2019:Ifngr1 UTSW 10 19592113 missense probably damaging 0.99
R2302:Ifngr1 UTSW 10 19609645 missense probably damaging 1.00
R2484:Ifngr1 UTSW 10 19601415 missense probably damaging 1.00
R4464:Ifngr1 UTSW 10 19597517 missense possibly damaging 0.75
R4863:Ifngr1 UTSW 10 19609416 missense probably damaging 1.00
R6045:Ifngr1 UTSW 10 19609161 missense possibly damaging 0.61
R6047:Ifngr1 UTSW 10 19606313 missense probably damaging 1.00
R6089:Ifngr1 UTSW 10 19606300 missense probably benign 0.01
R6750:Ifngr1 UTSW 10 19609351 missense probably benign 0.06
R6950:Ifngr1 UTSW 10 19607293 missense probably damaging 0.99
R7162:Ifngr1 UTSW 10 19609353 missense probably benign
T0975:Ifngr1 UTSW 10 19609473 missense probably damaging 0.98
X0005:Ifngr1 UTSW 10 19609473 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TAGGGGTTCCTGGACTGATTCC -3'
(R):5'- CTGGAAGAAAGACATTGGCTCC -3'

Sequencing Primer
(F):5'- TGGACTGATTCCTGCACCAAC -3'
(R):5'- ACCCAGGTTTGGTTAACAGC -3'
Posted On2016-01-22