Mutagenetix > Incidental Mutation

Incidental Mutation 'R0981:Irf1'

97189

Institutional Source

Beutler Lab

Gene Symbol

Irf1

Ensembl Gene

ENSMUSG00000018899

Gene Name

interferon regulatory factor 1

Synonyms

Irf-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0981 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53660841-53669200 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 53664548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 52 (*52R)

Ref Sequence

ENSEMBL: ENSMUSP00000118795 (fasta)

Gene Model

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

AlphaFold

P15314

Predicted Effect

probably damaging
Transcript: ENSMUST00000019043
AA Change: M85T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019043
Gene: ENSMUSG00000018899
AA Change: M85T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108920
AA Change: M85T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104548
Gene: ENSMUSG00000018899
AA Change: M85T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108922
AA Change: M85T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104550
Gene: ENSMUSG00000018899
AA Change: M85T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000123376
AA Change: M85T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122101
Gene: ENSMUSG00000018899
AA Change: M85T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128336

Predicted Effect

probably damaging
Transcript: ENSMUST00000133291
AA Change: M85T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116656
Gene: ENSMUSG00000018899
AA Change: M85T

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 damaging
Transcript: ENSMUST00000140866
AA Change: M85T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114315
Gene: ENSMUSG00000018899
AA Change: M85T

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

Predicted Effect

probably null
Transcript: ENSMUST00000142221
AA Change: *52R

SMART Domains

Protein: ENSMUSP00000118795
Gene: ENSMUSG00000018899
AA Change: *52R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153054

Predicted Effect

probably benign
Transcript: ENSMUST00000170390

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.4%
20x: 89.6%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,831,257 (GRCm39)	C942S	probably damaging	Het
Alpk1	T	C	3: 127,473,051 (GRCm39)	N984S	possibly damaging	Het
Ankrd55	T	C	13: 112,459,610 (GRCm39)	V68A	possibly damaging	Het
Asap2	T	C	12: 21,315,961 (GRCm39)	S960P	probably damaging	Het
Atp2b1	T	A	10: 98,851,491 (GRCm39)	N66K	probably damaging	Het
Cckar	C	T	5: 53,863,632 (GRCm39)	G39R	probably damaging	Het
Cimap1a	A	G	7: 140,428,208 (GRCm39)	M7V	probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Cpb1	C	A	3: 20,329,654 (GRCm39)	R24L	probably benign	Het
Dlg5	T	G	14: 24,204,699 (GRCm39)	R1258S	probably damaging	Het
Fanci	A	G	7: 79,054,914 (GRCm39)	Q148R	probably benign	Het
Fcgbp	T	A	7: 27,784,535 (GRCm39)	Y198*	probably null	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Garin5b	T	A	7: 4,760,588 (GRCm39)		probably null	Het
Glis1	A	G	4: 107,472,239 (GRCm39)	E272G	probably damaging	Het
Gm13741	T	C	2: 87,486,578 (GRCm39)	N229S	probably benign	Het
Gsdmc4	T	A	15: 63,763,922 (GRCm39)	I392F	probably damaging	Het
H2-M2	T	C	17: 37,793,521 (GRCm39)	T162A	probably benign	Het
Hk2	G	A	6: 82,720,949 (GRCm39)	R190W	probably damaging	Het
Lman2l	T	A	1: 36,484,314 (GRCm39)	M1L	unknown	Het
Mgat1	C	T	11: 49,151,882 (GRCm39)	R122C	probably damaging	Het
Mtrf1	T	C	14: 79,639,030 (GRCm39)	L54S	probably benign	Het
Myo5c	A	T	9: 75,178,873 (GRCm39)	L676F	probably damaging	Het
Ofcc1	A	G	13: 40,226,174 (GRCm39)	I786T	probably damaging	Het
Or5p64	AGGT	A	7: 107,855,228 (GRCm39)		probably benign	Het
Or5p64	GGTAG	GG	7: 107,855,229 (GRCm39)		probably benign	Het
Pfn1	G	A	11: 70,542,964 (GRCm39)	R137C	probably benign	Het
Pgbd5	G	A	8: 125,111,032 (GRCm39)	R129*	probably null	Het
Pibf1	T	C	14: 99,388,179 (GRCm39)		probably null	Het
Pkd2l1	A	G	19: 44,142,861 (GRCm39)		probably null	Het
Plin5	C	A	17: 56,421,020 (GRCm39)	R215L	probably damaging	Het
Prrc2c	C	T	1: 162,533,550 (GRCm39)		probably benign	Het
Rnasel	T	G	1: 153,635,345 (GRCm39)	C608G	probably benign	Het
Slc28a2	T	A	2: 122,281,465 (GRCm39)	V218D	probably damaging	Het
Snx1	T	C	9: 66,016,841 (GRCm39)	I29V	probably benign	Het
Tenm3	A	G	8: 48,752,000 (GRCm39)	W939R	probably damaging	Het
Tmem237	C	A	1: 59,157,164 (GRCm39)	R15L	probably damaging	Het
Tmx3	T	C	18: 90,555,324 (GRCm39)	V347A	probably benign	Het
Vmn1r191	T	C	13: 22,363,389 (GRCm39)	T122A	probably benign	Het
Wdfy4	G	T	14: 32,869,049 (GRCm39)	N326K	probably benign	Het
Zfp408	A	G	2: 91,475,528 (GRCm39)	L642P	probably benign	Het
Zfp808	C	A	13: 62,319,487 (GRCm39)	H239N	possibly damaging	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
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
R9055:Irf1	UTSW	11	53,667,196 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGCCCATTTGAGTCCTTCACAGTC -3'
(R):5'- GCTGAGTCCATCAGAGAAAGTGTCC -3'

Sequencing Primer
(F):5'- GGATGTCTAAGCCAACTCTGG -3'
(R):5'- ACTTTCTCTCTGTGGGAAGAAC -3'

Posted On

2014-01-05