Mutagenetix > Incidental Mutation

Incidental Mutation 'R2981:Irf3'

257078

Institutional Source

Beutler Lab

Gene Symbol

Irf3

Ensembl Gene

ENSMUSG00000003184

Gene Name

interferon regulatory factor 3

Synonyms

IRF-3, C920001K05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2981 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44647072-44652272 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 44648124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000003284] [ENSMUST00000003290] [ENSMUST00000085383] [ENSMUST00000107834] [ENSMUST00000107834] [ENSMUST00000107834] [ENSMUST00000107834] [ENSMUST00000207521] [ENSMUST00000207128] [ENSMUST00000207755] [ENSMUST00000207443] [ENSMUST00000207342] [ENSMUST00000209066] [ENSMUST00000209066] [ENSMUST00000209066] [ENSMUST00000209066] [ENSMUST00000211735]

AlphaFold

P70671

Predicted Effect

probably null
Transcript: ENSMUST00000003284

SMART Domains

Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000003284

SMART Domains

Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000003290

SMART Domains

Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190

Domain	Start	End	E-Value	Type
low complexity region	47	61	N/A	INTRINSIC
low complexity region	123	139	N/A	INTRINSIC
low complexity region	170	197	N/A	INTRINSIC
SCOP:d1maz__	227	243	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085383

SMART Domains

Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
low complexity region	59	78	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
low complexity region	185	224	N/A	INTRINSIC
coiled coil region	269	295	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC
low complexity region	382	396	N/A	INTRINSIC
low complexity region	411	435	N/A	INTRINSIC
low complexity region	488	511	N/A	INTRINSIC
low complexity region	534	618	N/A	INTRINSIC
low complexity region	631	641	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
low complexity region	703	726	N/A	INTRINSIC
low complexity region	730	739	N/A	INTRINSIC
low complexity region	752	775	N/A	INTRINSIC
Blast:IG_like	776	833	6e-6	BLAST
low complexity region	843	873	N/A	INTRINSIC
low complexity region	876	888	N/A	INTRINSIC
low complexity region	917	937	N/A	INTRINSIC
coiled coil region	963	983	N/A	INTRINSIC
low complexity region	1025	1037	N/A	INTRINSIC
low complexity region	1098	1128	N/A	INTRINSIC
low complexity region	1136	1146	N/A	INTRINSIC
Blast:IG_like	1151	1194	2e-16	BLAST
low complexity region	1225	1256	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107834

SMART Domains

Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107834

SMART Domains

Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107834

SMART Domains

Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107834

SMART Domains

Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107835

SMART Domains

Protein: ENSMUSP00000103466
Gene: ENSMUSG00000003184

Domain	Start	End	E-Value	Type
IRF	1	112	6.92e-50	SMART
IRF-3	195	373	4.87e-73	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128816
AA Change: A5S

Predicted Effect

probably null
Transcript: ENSMUST00000145728
AA Change: C125*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150613

Predicted Effect

probably benign
Transcript: ENSMUST00000207521

Predicted Effect

probably benign
Transcript: ENSMUST00000207128

Predicted Effect

probably benign
Transcript: ENSMUST00000207755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207213

Predicted Effect

probably benign
Transcript: ENSMUST00000207129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208128

Predicted Effect

probably benign
Transcript: ENSMUST00000207443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208143

Predicted Effect

probably benign
Transcript: ENSMUST00000207342

Predicted Effect

probably null
Transcript: ENSMUST00000209066

Predicted Effect

probably null
Transcript: ENSMUST00000209066

Predicted Effect

probably null
Transcript: ENSMUST00000209066

Predicted Effect

probably null
Transcript: ENSMUST00000209066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209006

Predicted Effect

probably benign
Transcript: ENSMUST00000208958

Predicted Effect

probably benign
Transcript: ENSMUST00000211735

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice are more susceptible to viral infection and exhibit lower serum interferon levels in response to viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,965,938 (GRCm39)	T163A	probably benign	Het
Adgrg7	C	T	16: 56,570,769 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,977,512 (GRCm39)	Q17K	probably damaging	Het
Cacna2d3	T	C	14: 28,785,875 (GRCm39)	Y604C	probably damaging	Het
Carf	A	T	1: 60,178,391 (GRCm39)	E268V	probably damaging	Het
Dmxl2	C	A	9: 54,300,986 (GRCm39)	R2375L	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	G	15: 58,435,926 (GRCm39)	K440E	probably damaging	Het
Grin2a	A	T	16: 9,462,087 (GRCm39)	F682I	possibly damaging	Het
Kif1b	C	T	4: 149,304,998 (GRCm39)		probably null	Het
Pcdha5	A	G	18: 37,094,529 (GRCm39)	N346S	probably damaging	Het
Prex2	T	A	1: 11,252,186 (GRCm39)	V1077D	probably damaging	Het
Rptor	T	C	11: 119,756,420 (GRCm39)	L71S	probably damaging	Het
Timeless	A	G	10: 128,084,327 (GRCm39)	T791A	probably benign	Het
Trim58	T	A	11: 58,542,387 (GRCm39)	V449D	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vrk1	A	G	12: 106,018,052 (GRCm39)	Y107C	probably damaging	Het
Yeats2	C	T	16: 20,005,051 (GRCm39)	P400S	probably damaging	Het

Other mutations in Irf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Irf3	APN	7	44,648,220 (GRCm39)	missense	possibly damaging	0.95
IGL01935:Irf3	APN	7	44,650,194 (GRCm39)	missense	probably benign
IGL02334:Irf3	APN	7	44,648,134 (GRCm39)	unclassified	probably benign
IGL02428:Irf3	APN	7	44,648,163 (GRCm39)	missense	probably damaging	1.00
IGL02647:Irf3	APN	7	44,649,800 (GRCm39)	missense	probably benign	0.01
R0801:Irf3	UTSW	7	44,650,058 (GRCm39)	unclassified	probably benign
R2128:Irf3	UTSW	7	44,651,168 (GRCm39)	missense	probably damaging	1.00
R3746:Irf3	UTSW	7	44,648,297 (GRCm39)	missense	probably damaging	1.00
R5484:Irf3	UTSW	7	44,649,382 (GRCm39)	missense	probably damaging	1.00
R8331:Irf3	UTSW	7	44,650,383 (GRCm39)	missense	probably damaging	1.00
R8692:Irf3	UTSW	7	44,649,889 (GRCm39)	nonsense	probably null
R9189:Irf3	UTSW	7	44,650,246 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GGTGCCAGCTTTGGATAATAGG -3'
(R):5'- GCCAAAGTCAGCCATCTGTG -3'

Sequencing Primer
(F):5'- GCCAGCTTTGGATAATAGGAGTTTAC -3'
(R):5'- AAGTCAGCCATCTGTGCGTCC -3'

Posted On

2015-01-11