Mutagenetix > Incidental Mutations

Incidental Mutation 'R1496:Ifngr1'

168876

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

039547-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19591949-19610229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19601445 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 118 (D118G)

Ref Sequence

ENSEMBL: ENSMUSP00000020188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020188] [ENSMUST00000164591]

Predicted Effect

probably benign
Transcript: ENSMUST00000020188
AA Change: D118G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020188
Gene: ENSMUSG00000020009
AA Change: D118G

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: 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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,310,254		probably benign	Het
4933411K16Rik	T	C	19: 42,053,050	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,448,434	L832Q	probably damaging	Het
Acan	T	A	7: 79,100,804	H1774Q	probably benign	Het
Adss	T	C	1: 177,772,194	T275A	probably benign	Het
Ano5	G	A	7: 51,583,775	R595H	probably damaging	Het
Araf	G	T	X: 20,859,704	R522L	probably damaging	Het
Arhgef28	C	T	13: 97,965,546	V807I	possibly damaging	Het
Bin1	T	C	18: 32,412,704	I103T	probably damaging	Het
C4b	C	T	17: 34,740,021	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,678,035	P1015S	probably benign	Het
Capn1	A	G	19: 6,007,498		probably null	Het
Cep290	A	G	10: 100,538,966	Q1358R	probably damaging	Het
Cfap126	T	C	1: 171,125,817		probably benign	Het
Chn1	T	C	2: 73,679,607		probably benign	Het
Cldn8	T	C	16: 88,562,401	E212G	probably benign	Het
Cpb1	T	C	3: 20,263,532	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,810,347	I138F	probably benign	Het
Dab2ip	G	A	2: 35,718,791	R579H	probably damaging	Het
Dcaf8	T	C	1: 172,193,855	M538T	probably benign	Het
Dhrs4	T	G	14: 55,487,650	L201V	probably damaging	Het
Dnah12	C	T	14: 26,710,248	A407V	probably benign	Het
Elavl3	T	A	9: 22,026,165		probably benign	Het
Elp4	T	C	2: 105,832,161	H88R	probably benign	Het
Ercc3	T	C	18: 32,261,297		probably benign	Het
Eri1	A	G	8: 35,469,181	S329P	possibly damaging	Het
Erich2	A	T	2: 70,512,773		probably benign	Het
Esyt1	A	G	10: 128,512,428	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,835,631	E141G	probably damaging	Het
Fat1	A	G	8: 45,033,390	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,309,495	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,729,750	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,659,538	D194G	probably damaging	Het
Gpr89	A	G	3: 96,905,210	I5T	probably benign	Het
Gpx6	A	T	13: 21,318,920	H168L	probably benign	Het
Gusb	T	C	5: 129,998,544	T307A	probably benign	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Ipcef1	A	T	10: 6,935,173		probably null	Het
Kbtbd3	A	T	9: 4,330,276	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,459,885		probably null	Het
Lrp1	T	C	10: 127,539,011	D4526G	probably damaging	Het
Lrp1b	A	T	2: 42,323,662	V46D	probably damaging	Het
Lsm8	T	A	6: 18,849,659	M22K	probably benign	Het
Map1lc3b	C	T	8: 121,596,600	R70C	possibly damaging	Het
Meiob	T	A	17: 24,813,052	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330	Y183*	probably null	Het
Mrs2	T	C	13: 25,005,034	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,505,561	K151R	probably benign	Het
Neb	T	G	2: 52,328,734	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,650,078	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,904,978	T122I	probably damaging	Het
Nuggc	A	T	14: 65,624,133	N476I	probably damaging	Het
Obscn	T	A	11: 59,031,036	H5978L	probably benign	Het
Oc90	G	T	15: 65,876,521	A412D	probably damaging	Het
Olfr1080	A	T	2: 86,553,752	V124E	probably damaging	Het
Olfr1143	T	G	2: 87,802,868	S160A	probably benign	Het
Olfr1249	A	G	2: 89,630,014	S295P	possibly damaging	Het
Olfr168	T	A	16: 19,530,383	D179V	possibly damaging	Het
Olfr399	A	G	11: 74,053,824	*312Q	probably null	Het
Olfr8	T	A	10: 78,955,848	S214R	probably benign	Het
Pdzrn3	A	T	6: 101,150,969	V912E	probably benign	Het
Phactr1	T	A	13: 43,094,990	Y387N	probably damaging	Het
Picalm	T	A	7: 90,130,651	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,941,077	I314F	possibly damaging	Het
Pold2	T	C	11: 5,874,175	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,524		probably benign	Het
Rac1	G	T	5: 143,507,338	A165E	probably damaging	Het
Rpap3	G	T	15: 97,686,483	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,526,888	T1012I	probably benign	Het
Sdad1	A	G	5: 92,309,823	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,859,912	K180T	probably damaging	Het
Sgpl1	T	C	10: 61,102,589	N475S	probably damaging	Het
Shroom3	T	C	5: 92,942,834	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,119,158	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,361,171	I36V	probably benign	Het
Smarca2	C	G	19: 26,631,101	P263A	possibly damaging	Het
Sp100	T	C	1: 85,663,521		probably benign	Het
Spag6l	A	G	16: 16,780,614		probably benign	Het
Sptbn1	T	C	11: 30,121,498	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,190,951	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,868,355	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,826,393		probably null	Het
Tnfrsf9	T	A	4: 150,933,104		probably null	Het
Tnni3k	T	C	3: 154,939,658	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,805,764	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,803,350	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,946,210	H541P	probably damaging	Het
Zfp84	A	G	7: 29,776,614	I244V	possibly damaging	Het
Zyx	A	G	6: 42,356,312	Y393C	probably damaging	Het

Other mutations in Ifngr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
BB007:Ifngr1	UTSW	10	19609183	missense	probably damaging	1.00
BB017:Ifngr1	UTSW	10	19609183	missense	probably damaging	1.00
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
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
R4089:Ifngr1	UTSW	10	19601485	critical splice donor site	probably null
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
R7930:Ifngr1	UTSW	10	19609183	missense	probably damaging	1.00
R8178:Ifngr1	UTSW	10	19609493	missense	probably benign	0.03
R8436:Ifngr1	UTSW	10	19603805	missense	probably damaging	1.00
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'- GACATGGGTGGATAGCCAAAGTCTG -3'
(R):5'- GGCAAACTGAAGGCCAGTTCAGTG -3'

Sequencing Primer
(F):5'- AGTCTGTGTGATAATATGGGACAGC -3'
(R):5'- gcatttccagaggacccag -3'

Posted On

2014-04-13