Mutagenetix > Incidental Mutation

Incidental Mutation 'R6514:Irf1'

520524

Institutional Source

Beutler Lab

Gene Symbol

Irf1

Ensembl Gene

ENSMUSG00000018899

Gene Name

interferon regulatory factor 1

Synonyms

Irf-1

MMRRC Submission

044641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6514 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53660841-53669200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 53662148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 12 (L12V)

Ref Sequence

ENSEMBL: ENSMUSP00000114315 (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: L12V

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

SMART Domains

Protein: ENSMUSP00000019043
Gene: ENSMUSG00000018899
AA Change: L12V

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: L12V

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

SMART Domains

Protein: ENSMUSP00000104548
Gene: ENSMUSG00000018899
AA Change: L12V

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: L12V

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

SMART Domains

Protein: ENSMUSP00000104550
Gene: ENSMUSG00000018899
AA Change: L12V

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: L12V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122101
Gene: ENSMUSG00000018899
AA Change: L12V

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: L12V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116656
Gene: ENSMUSG00000018899
AA Change: L12V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000138913
AA Change: L12V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118314
Gene: ENSMUSG00000018899
AA Change: L12V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000140866
AA Change: L12V

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

SMART Domains

Protein: ENSMUSP00000114315
Gene: ENSMUSG00000018899
AA Change: L12V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142221
AA Change: L12V

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118795
Gene: ENSMUSG00000018899
AA Change: L12V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153054

Meta Mutation Damage Score

0.8290

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

95% (35/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	G	A	11: 50,833,569 (GRCm39)	A11V	unknown	Het
Add1	T	A	5: 34,763,317 (GRCm39)	H168Q	probably damaging	Het
Apol7b	C	T	15: 77,308,126 (GRCm39)	R123Q	probably benign	Het
Arrdc3	A	G	13: 81,037,309 (GRCm39)	E155G	probably damaging	Het
Capn7	T	G	14: 31,066,511 (GRCm39)	D108E	probably benign	Het
Cdc6	A	G	11: 98,810,118 (GRCm39)	T476A	probably benign	Het
Cntnap5c	A	G	17: 58,637,165 (GRCm39)	E1014G	probably damaging	Het
Crybg1	A	T	10: 43,873,211 (GRCm39)	L1299H	probably damaging	Het
Duoxa1	A	G	2: 122,135,194 (GRCm39)	S184P	probably benign	Het
Ech1	A	G	7: 28,525,440 (GRCm39)	H65R	possibly damaging	Het
Egr3	T	C	14: 70,316,366 (GRCm39)	L59P	probably damaging	Het
Eif4enif1	T	A	11: 3,190,996 (GRCm39)	D724E	probably null	Het
Erbb2	A	G	11: 98,310,972 (GRCm39)	D44G	probably benign	Het
Fer1l5	A	G	1: 36,442,697 (GRCm39)	I739V	probably benign	Het
Gfm1	T	C	3: 67,380,879 (GRCm39)	F665L	probably benign	Het
Gm10801	T	A	2: 98,494,214 (GRCm39)	W119R	probably benign	Het
H2-M11	A	T	17: 36,859,839 (GRCm39)	E277D	probably damaging	Het
Ighv1-66	T	C	12: 115,556,740 (GRCm39)	Y114C	possibly damaging	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Ly6g	C	T	15: 75,028,581 (GRCm39)	P14S	probably benign	Het
Mfsd13a	T	C	19: 46,363,064 (GRCm39)		probably null	Het
Mme	T	A	3: 63,272,265 (GRCm39)	C621*	probably null	Het
Mmp16	T	C	4: 18,116,123 (GRCm39)	C576R	probably damaging	Het
Ngp	A	T	9: 110,249,017 (GRCm39)	I30F	probably damaging	Het
Or2q1	T	A	6: 42,794,930 (GRCm39)	I175N	probably damaging	Het
Pdcd6ip	G	A	9: 113,518,762 (GRCm39)	T166I	probably benign	Het
Pgd	C	T	4: 149,245,209 (GRCm39)		probably null	Het
Plcb4	T	A	2: 135,796,916 (GRCm39)	H440Q	probably benign	Het
Ppl	A	G	16: 4,905,181 (GRCm39)	S1705P	probably damaging	Het
Ryr1	A	G	7: 28,746,266 (GRCm39)	F3831S	probably damaging	Het
Serpine2	A	C	1: 79,799,287 (GRCm39)		probably null	Het
Skor2	T	A	18: 76,950,389 (GRCm39)	W906R	probably damaging	Het
Tle6	G	A	10: 81,427,810 (GRCm39)	H482Y	probably damaging	Het
Ufl1	T	A	4: 25,262,238 (GRCm39)	D336V	probably damaging	Het
Vav1	T	C	17: 57,634,660 (GRCm39)	F832L	probably 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
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
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'- GGGTCCCTAATCTATGACCTGG -3'
(R):5'- TCAGACCTTGCACGTTCTG -3'

Sequencing Primer
(F):5'- TGGCTGATGGCAGGAGAGTG -3'
(R):5'- GACCTTGCACGTTCTGGCATG -3'

Posted On

2018-06-06