Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01355:Irf1'

75488

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01355

Quality Score

Status

Chromosome

Chromosomal Location

53770014-53778374 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53774361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 188 (V188A)

Ref Sequence

ENSEMBL: ENSMUSP00000104550 (fasta)

Gene Model

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

AlphaFold

P15314

Predicted Effect

probably benign
Transcript: ENSMUST00000019043
AA Change: V188A

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

SMART Domains

Protein: ENSMUSP00000019043
Gene: ENSMUSG00000018899
AA Change: V188A

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: V188A

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

SMART Domains

Protein: ENSMUSP00000104548
Gene: ENSMUSG00000018899
AA Change: V188A

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
AA Change: V188A

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

SMART Domains

Protein: ENSMUSP00000104550
Gene: ENSMUSG00000018899
AA Change: V188A

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

noncoding transcript
Transcript: ENSMUST00000128336

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

noncoding transcript
Transcript: ENSMUST00000153054

Predicted Effect

probably benign
Transcript: ENSMUST00000170390

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	C	T	4: 153,386,481	V290I	probably damaging	Het
Ankrd12	A	G	17: 65,970,340		probably benign	Het
Anxa4	A	T	6: 86,752,205	I140N	probably damaging	Het
Asap2	A	G	12: 21,218,086		probably benign	Het
Cd36	C	T	5: 17,813,074	V214I	possibly damaging	Het
Col24a1	T	C	3: 145,314,876	L336S	probably benign	Het
Dcc	C	T	18: 71,809,114	V311I	probably benign	Het
Gpr146	A	T	5: 139,378,904		probably benign	Het
Limk1	G	A	5: 134,657,900		probably benign	Het
Mcidas	T	C	13: 112,999,069	F342S	probably damaging	Het
Mctp1	A	G	13: 76,384,955	T141A	probably benign	Het
Mnd1	C	A	3: 84,116,477	A101S	probably benign	Het
Nsun7	T	C	5: 66,294,868	S466P	probably damaging	Het
Olfr1279	T	A	2: 111,307,093	I296K	probably benign	Het
Olfr165	C	T	16: 19,407,583	M145I	probably benign	Het
Olfr617	A	G	7: 103,584,373	E117G	probably damaging	Het
Pik3c2g	G	T	6: 139,852,857	G371V	probably damaging	Het
Sdad1	A	G	5: 92,302,679	V199A	probably damaging	Het
Spg11	C	T	2: 122,113,156	V172I	probably benign	Het
Tas2r108	A	G	6: 40,493,751	T54A	possibly damaging	Het
Tmem121b	A	G	6: 120,492,466	L430P	probably damaging	Het
Traf3ip1	A	G	1: 91,518,297	D384G	probably damaging	Het
Trank1	A	G	9: 111,365,520	T871A	possibly damaging	Het
Vegfa	T	C	17: 46,025,421	M258V	possibly damaging	Het
Zbtb49	A	G	5: 38,210,616		probably null	Het

Other mutations in Irf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Irf1	APN	11	53774451	missense	probably benign	0.39
endeka	UTSW	11	53772891	missense	probably damaging	1.00
Endeka2	UTSW	11	53771322	missense	probably damaging	1.00
Longs_peak	UTSW	11	53775936	missense	probably benign	0.27
R0981:Irf1	UTSW	11	53773722	makesense	probably null
R1861:Irf1	UTSW	11	53774357	missense	possibly damaging	0.65
R2511:Irf1	UTSW	11	53773791	missense	probably damaging	1.00
R5828:Irf1	UTSW	11	53775936	missense	probably benign	0.27
R6514:Irf1	UTSW	11	53771322	missense	probably damaging	1.00
R6986:Irf1	UTSW	11	53774140	missense	probably damaging	1.00
R7108:Irf1	UTSW	11	53774412	missense	probably damaging	1.00
R7696:Irf1	UTSW	11	53776336	missense	probably benign	0.07
R9055:Irf1	UTSW	11	53776370	missense	probably benign

Posted On

2013-10-07