Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00229:Ifnar1'

2094

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ifnar1

Ensembl Gene

ENSMUSG00000022967

Gene Name

interferon (alpha and beta) receptor 1

Synonyms

Ifar, Ifrc, IFN-alpha/betaR

Accession Numbers

Ncbi RefSeq: NM_010508; VEGA: OTTMUST00000067225; MGI: 107658;

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

91485238-91507441 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91489782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 54 (S54P)

Ref Sequence

ENSEMBL: ENSMUSP00000156101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023689] [ENSMUST00000117748] [ENSMUST00000123196] [ENSMUST00000129878] [ENSMUST00000232509]

AlphaFold

P33896

Predicted Effect

probably benign
Transcript: ENSMUST00000023689
AA Change: S54P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023689
Gene: ENSMUSG00000022967
AA Change: S54P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
FN3	29	110	6.97e0	SMART
FN3	128	213	7.02e1	SMART
low complexity region	267	275	N/A	INTRINSIC
FN3	332	409	3.23e0	SMART
PDB:4PO6\|B	469	499	3e-7	PDB
low complexity region	550	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117748
AA Change: S54P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112670
Gene: ENSMUSG00000022967
AA Change: S54P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
FN3	29	110	6.97e0	SMART
FN3	128	213	7.02e1	SMART
low complexity region	267	275	N/A	INTRINSIC
FN3	332	409	3.23e0	SMART
PDB:4PO6\|B	469	499	3e-7	PDB
low complexity region	550	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123196
AA Change: S54P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119160
Gene: ENSMUSG00000022967
AA Change: S54P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
FN3	29	110	6.97e0	SMART
FN3	128	213	7.02e1	SMART
low complexity region	267	275	N/A	INTRINSIC
FN3	332	409	3.23e0	SMART
PDB:4PO6\|B	469	499	3e-7	PDB
low complexity region	550	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129878
AA Change: S54P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000120945
Gene: ENSMUSG00000022967
AA Change: S54P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
FN3	29	110	6.97e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231604

Predicted Effect

probably damaging
Transcript: ENSMUST00000232509
AA Change: S54P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased susceptibility to viral infection, elevated levels of myeloid lineage cells in the peripheral blood and bone marrow, and reduced immune response to immunostimulatory DNA. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted(5) Gene trapped(4) Chemically induced(1)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Ifnar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Ifnar1	APN	16	91505146	missense	possibly damaging	0.94
IGL02828:Ifnar1	APN	16	91505416	critical splice donor site	probably null
macro-1	UTSW	16	91499885	missense	probably damaging	0.98
shook	UTSW	16	91499537	nonsense	probably null
sneffels	UTSW	16	91501620	critical splice acceptor site	probably null
R0124:Ifnar1	UTSW	16	91499537	nonsense	probably null
R0502:Ifnar1	UTSW	16	91501751	missense	probably damaging	1.00
R0617:Ifnar1	UTSW	16	91501682	missense	probably damaging	1.00
R1509:Ifnar1	UTSW	16	91503496	missense	probably damaging	1.00
R4111:Ifnar1	UTSW	16	91496158	missense	probably damaging	1.00
R4473:Ifnar1	UTSW	16	91495170	missense	probably damaging	0.98
R4964:Ifnar1	UTSW	16	91505086	missense	probably benign	0.08
R5497:Ifnar1	UTSW	16	91505364	missense	probably benign	0.01
R6135:Ifnar1	UTSW	16	91501620	critical splice acceptor site	probably null
R6398:Ifnar1	UTSW	16	91505415	critical splice donor site	probably null
R6505:Ifnar1	UTSW	16	91499537	nonsense	probably null
R6620:Ifnar1	UTSW	16	91496267	splice site	probably null
R7229:Ifnar1	UTSW	16	91499556	missense	probably benign	0.00
R7664:Ifnar1	UTSW	16	91495194	missense	probably damaging	1.00
R8337:Ifnar1	UTSW	16	91505336	missense	possibly damaging	0.70
R8348:Ifnar1	UTSW	16	91495299	missense	probably benign	0.00
R8531:Ifnar1	UTSW	16	91495456	nonsense	probably null
R8683:Ifnar1	UTSW	16	91499444	missense	probably damaging	1.00
R9031:Ifnar1	UTSW	16	91505191	missense	probably benign	0.13
R9110:Ifnar1	UTSW	16	91505262	missense	probably benign	0.04
R9278:Ifnar1	UTSW	16	91505125	missense	probably damaging	1.00
R9356:Ifnar1	UTSW	16	91495479	missense	probably benign	0.06
R9359:Ifnar1	UTSW	16	91495479	missense	probably benign	0.06
R9388:Ifnar1	UTSW	16	91495479	missense	probably benign	0.06
X0057:Ifnar1	UTSW	16	91495424	missense	probably damaging	0.98
X0057:Ifnar1	UTSW	16	91505283	missense	possibly damaging	0.92

Posted On

2011-12-09