Mutagenetix > Incidental Mutation

Incidental Mutation 'R9055:Irf1'

688637

Institutional Source

Beutler Lab

Gene Symbol

Irf1

Ensembl Gene

ENSMUSG00000018899

Gene Name

interferon regulatory factor 1

Synonyms

Irf-1

MMRRC Submission

068881-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9055 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53660841-53669200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53667196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 305 (I305N)

Ref Sequence

ENSEMBL: ENSMUSP00000019043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019043] [ENSMUST00000108920] [ENSMUST00000108922] [ENSMUST00000123376] [ENSMUST00000133291] [ENSMUST00000138913] [ENSMUST00000140866] [ENSMUST00000142221] [ENSMUST00000170390]

AlphaFold

P15314

PDB Structure

INTERFERON REGULATORY FACTOR 1 (IRF-1) COMPLEX WITH DNA [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000019043
AA Change: I305N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019043
Gene: ENSMUSG00000018899
AA Change: I305N

Domain	Start	End	E-Value	Type
IRF	1	114	6.75e-62	SMART
low complexity region	120	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108920
AA Change: I305N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104548
Gene: ENSMUSG00000018899
AA Change: I305N

Domain	Start	End	E-Value	Type
IRF	1	114	6.75e-62	SMART
low complexity region	120	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108922

SMART Domains

Protein: ENSMUSP00000104550
Gene: ENSMUSG00000018899

Domain	Start	End	E-Value	Type
IRF	1	114	6.75e-62	SMART
low complexity region	120	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123376

SMART Domains

Protein: ENSMUSP00000122101
Gene: ENSMUSG00000018899

Domain	Start	End	E-Value	Type
IRF	1	114	6.75e-62	SMART
low complexity region	120	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133291

SMART Domains

Protein: ENSMUSP00000116656
Gene: ENSMUSG00000018899

Domain	Start	End	E-Value	Type
IRF	1	114	6.75e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138913

SMART Domains

Protein: ENSMUSP00000118314
Gene: ENSMUSG00000018899

Domain	Start	End	E-Value	Type
IRF	1	62	2.41e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140866

SMART Domains

Protein: ENSMUSP00000114315
Gene: ENSMUSG00000018899

Domain	Start	End	E-Value	Type
IRF	1	114	6.75e-62	SMART
low complexity region	120	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142221

SMART Domains

Protein: ENSMUSP00000118795
Gene: ENSMUSG00000018899

Domain	Start	End	E-Value	Type
Pfam:IRF	5	48	4.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170390

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to reduced CD8+ T cell number and altered response to viral infection and may cause alterations in cytokine levels, CD4+ cell subset homeostasis, blood vessel healing, DNA repair, and susceptibility to induced lymphomas, arthritis and autoimmune encephalitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	A	19: 57,030,398 (GRCm39)	T753S	probably benign	Het
Acy3	A	G	19: 4,038,178 (GRCm39)	E157G	probably benign	Het
Adamts20	A	G	15: 94,181,867 (GRCm39)	Y1609H	probably damaging	Het
Ahnak2	C	T	12: 112,741,019 (GRCm39)	A1018T	possibly damaging	Het
Ahsg	T	A	16: 22,711,069 (GRCm39)	W69R	possibly damaging	Het
Alox12	T	G	11: 70,143,903 (GRCm39)	D159A	probably damaging	Het
Alox12b	C	G	11: 69,054,884 (GRCm39)	P296A	possibly damaging	Het
Ankrd17	T	C	5: 90,380,168 (GRCm39)	I2507V	probably benign	Het
Apeh	T	C	9: 107,963,045 (GRCm39)	M670V	possibly damaging	Het
Aqp12	C	T	1: 92,934,627 (GRCm39)	A168V	probably benign	Het
Ceacam1	A	T	7: 25,171,299 (GRCm39)	D388E	probably damaging	Het
Clp1	A	T	2: 84,554,266 (GRCm39)	I301N	probably damaging	Het
Cntn3	A	G	6: 102,244,398 (GRCm39)	F384L	probably benign	Het
Dnpep	A	T	1: 75,291,805 (GRCm39)	M238K	possibly damaging	Het
Dync2h1	A	T	9: 6,996,641 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,623,360 (GRCm39)	N98K	probably benign	Het
Egr3	T	A	14: 70,316,349 (GRCm39)	N15K	probably damaging	Het
Fbxo25	T	A	8: 13,965,023 (GRCm39)	C25S	possibly damaging	Het
Fgd4	T	A	16: 16,240,494 (GRCm39)	D745V	possibly damaging	Het
Flnb	T	A	14: 7,908,553 (GRCm38)	D1310E	probably benign	Het
Ggnbp2	A	G	11: 84,732,448 (GRCm39)	F215S	probably damaging	Het
Gm1979	C	T	5: 26,207,032 (GRCm39)	R107Q	probably benign	Het
Gm4847	T	A	1: 166,467,677 (GRCm39)	H173L	probably damaging	Het
Gmeb1	A	T	4: 131,964,425 (GRCm39)	L146H	probably damaging	Het
Gpr88	A	G	3: 116,046,300 (GRCm39)	S4P	unknown	Het
Gucy1a1	A	G	3: 82,016,433 (GRCm39)	L185P	possibly damaging	Het
Hsd3b6	G	T	3: 98,713,984 (GRCm39)	T105N	probably damaging	Het
Iqca1	T	C	1: 89,998,335 (GRCm39)	Y546C	probably benign	Het
Itgb3	G	A	11: 104,556,451 (GRCm39)	W764*	probably null	Het
Klra8	G	T	6: 130,096,017 (GRCm39)	R192S	probably benign	Het
Krt79	T	A	15: 101,839,922 (GRCm39)	I358F	probably damaging	Het
Mettl4	T	C	17: 95,047,843 (GRCm39)	D266G	possibly damaging	Het
Mfsd8	G	A	3: 40,786,493 (GRCm39)	A219V	probably benign	Het
Mgam	G	A	6: 40,691,663 (GRCm39)		probably benign	Het
Nek9	A	T	12: 85,348,616 (GRCm39)	C973S	probably damaging	Het
Or2k2	G	T	4: 58,785,374 (GRCm39)	A116E	possibly damaging	Het
Or4f15	A	T	2: 111,814,049 (GRCm39)	Y123*	probably null	Het
Or8c13	T	C	9: 38,091,780 (GRCm39)	Y113C	probably damaging	Het
Ostc	T	A	3: 130,503,020 (GRCm39)	E2V	probably damaging	Het
Ostc	C	A	3: 130,503,021 (GRCm39)	E2*	probably null	Het
Pcdhb8	T	A	18: 37,490,585 (GRCm39)	C754*	probably null	Het
Polr1a	A	G	6: 71,892,053 (GRCm39)	T111A	possibly damaging	Het
Prep	C	T	10: 44,991,291 (GRCm39)	T319M	probably benign	Het
Reg3b	A	C	6: 78,349,886 (GRCm39)	D142A	possibly damaging	Het
Retsat	A	G	6: 72,583,936 (GRCm39)	D537G	probably benign	Het
Rnf2	G	A	1: 151,352,030 (GRCm39)	L109F	probably damaging	Het
Rskr	A	G	11: 78,184,373 (GRCm39)	D240G	probably damaging	Het
Runx3	G	T	4: 134,902,656 (GRCm39)	R262L	probably damaging	Het
Rwdd3	G	T	3: 120,952,871 (GRCm39)	T112K	probably benign	Het
Scfd2	T	C	5: 74,691,931 (GRCm39)	H117R	possibly damaging	Het
Scn10a	C	T	9: 119,451,958 (GRCm39)	V1321M	probably damaging	Het
Sec31a	T	C	5: 100,534,040 (GRCm39)	E119G	possibly damaging	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc18a1	T	A	8: 69,520,823 (GRCm39)	I199F	possibly damaging	Het
St18	C	T	1: 6,873,206 (GRCm39)	R314*	probably null	Het
Sucla2	T	G	14: 73,819,068 (GRCm39)		probably benign	Het
Sulf1	A	T	1: 12,878,187 (GRCm39)	H225L	probably damaging	Het
Tas2r140	A	G	6: 133,032,380 (GRCm39)	V126A	possibly damaging	Het
Tcp10b	T	C	17: 13,281,828 (GRCm39)	I66T	probably damaging	Het
Tmem45a2	T	C	16: 56,861,115 (GRCm39)	I237M	probably benign	Het
Traf3ip1	C	T	1: 91,428,733 (GRCm39)	R167*	probably null	Het
Trav17	T	G	14: 54,044,320 (GRCm39)	V30G	probably damaging	Het
Vmn1r54	A	G	6: 90,246,100 (GRCm39)	N5D	probably benign	Het
Vmn2r81	A	G	10: 79,110,441 (GRCm39)	H518R	probably benign	Het
Washc3	A	G	10: 88,051,916 (GRCm39)	T102A	probably benign	Het
Xaf1	A	G	11: 72,194,266 (GRCm39)	H49R	probably damaging	Het
Zfp1001	G	A	2: 150,165,753 (GRCm39)		probably benign	Het
Zfp276	T	C	8: 123,985,109 (GRCm39)	F356L	probably damaging	Het
Zfp398	G	T	6: 47,843,319 (GRCm39)	R457L	possibly damaging	Het
Zfp512	G	T	5: 31,637,533 (GRCm39)	E541*	probably null	Het

Other mutations in Irf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Irf1	APN	11	53,665,187 (GRCm39)	missense	probably benign
IGL01743:Irf1	APN	11	53,665,277 (GRCm39)	missense	probably benign	0.39
endeka	UTSW	11	53,663,717 (GRCm39)	missense	probably damaging	1.00
Endeka2	UTSW	11	53,662,148 (GRCm39)	missense	probably damaging	1.00
Longs_peak	UTSW	11	53,666,762 (GRCm39)	missense	probably benign	0.27
R0981:Irf1	UTSW	11	53,664,548 (GRCm39)	makesense	probably null
R1861:Irf1	UTSW	11	53,665,183 (GRCm39)	missense	possibly damaging	0.65
R2511:Irf1	UTSW	11	53,664,617 (GRCm39)	missense	probably damaging	1.00
R5828:Irf1	UTSW	11	53,666,762 (GRCm39)	missense	probably benign	0.27
R6514:Irf1	UTSW	11	53,662,148 (GRCm39)	missense	probably damaging	1.00
R6986:Irf1	UTSW	11	53,664,966 (GRCm39)	missense	probably damaging	1.00
R7108:Irf1	UTSW	11	53,665,238 (GRCm39)	missense	probably damaging	1.00
R7696:Irf1	UTSW	11	53,667,162 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ATGAAGTGAGAATTCCTAGCTGC -3'
(R):5'- CAGTGGGACTATGCTTTGCC -3'

Sequencing Primer
(F):5'- GAGAATTCCTAGCTGCCCCTGTG -3'
(R):5'- ACTATGCTTTGCCATGTGTCAAG -3'

Posted On

2021-11-19