Mutagenetix > Incidental Mutation

Incidental Mutation 'R3746:Irf3'

309806

Institutional Source

Beutler Lab

Gene Symbol

Irf3

Ensembl Gene

ENSMUSG00000003184

Gene Name

interferon regulatory factor 3

Synonyms

IRF-3, C920001K05Rik

MMRRC Submission

040732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3746 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44647072-44652272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44648297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 54 (F54S)

Ref Sequence

ENSEMBL: ENSMUSP00000146773 (fasta)

Gene Model

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

AlphaFold

P70671

Predicted Effect

probably damaging
Transcript: ENSMUST00000003284
AA Change: F54S

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

SMART Domains

Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184
AA Change: F54S

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 damaging
Transcript: ENSMUST00000107834
AA Change: F54S

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

SMART Domains

Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184
AA Change: F54S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107835
AA Change: F54S

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

SMART Domains

Protein: ENSMUSP00000103466
Gene: ENSMUSG00000003184
AA Change: F54S

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: ENSMUST00000124069
AA Change: S186P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130610
AA Change: F130S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145728
AA Change: F183S

Predicted Effect

probably damaging
Transcript: ENSMUST00000207521
AA Change: F54S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207555

Predicted Effect

probably benign
Transcript: ENSMUST00000207128

Predicted Effect

probably benign
Transcript: ENSMUST00000207443

Predicted Effect

probably benign
Transcript: ENSMUST00000207755

Predicted Effect

probably benign
Transcript: ENSMUST00000207129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207213

Predicted Effect

probably benign
Transcript: ENSMUST00000207342

Predicted Effect

probably damaging
Transcript: ENSMUST00000209066
AA Change: F54S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209006

Predicted Effect

probably benign
Transcript: ENSMUST00000208958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208906

Meta Mutation Damage Score

0.9550

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abcb5	T	C	12: 118,838,355 (GRCm39)	D1069G	probably damaging	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Ccdc40	T	C	11: 119,155,252 (GRCm39)	V1164A	probably benign	Het
Chd7	G	A	4: 8,752,537 (GRCm39)	V345M	probably damaging	Het
Cln6	A	G	9: 62,754,284 (GRCm39)	I109V	probably benign	Het
Csmd3	A	T	15: 47,713,162 (GRCm39)	F1604Y	probably benign	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Dip2c	A	T	13: 9,651,509 (GRCm39)	D674V	probably damaging	Het
Dnah17	T	C	11: 117,973,742 (GRCm39)	S1935G	probably benign	Het
Eif3g	G	A	9: 20,805,993 (GRCm39)	R295C	probably benign	Het
Epha5	T	C	5: 84,206,963 (GRCm39)	K998E	probably damaging	Het
Fam171b	A	T	2: 83,709,944 (GRCm39)	T539S	probably damaging	Het
Fer1l4	G	T	2: 155,876,968 (GRCm39)	H1159N	probably benign	Het
Fsip1	A	G	2: 118,063,531 (GRCm39)	C313R	probably damaging	Het
Gm37240	T	G	3: 84,426,919 (GRCm39)	N168T	probably benign	Het
Gm7589	T	C	9: 59,053,138 (GRCm39)		noncoding transcript	Het
Igkv20-101-2	A	T	6: 68,451,942 (GRCm39)	I66L	possibly damaging	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Lrp10	A	T	14: 54,706,723 (GRCm39)	N520I	possibly damaging	Het
Map3k21	A	G	8: 126,661,839 (GRCm39)	K479E	probably damaging	Het
Mpdz	A	C	4: 81,281,384 (GRCm39)	V609G	probably damaging	Het
Opcml	G	A	9: 28,812,826 (GRCm39)	V173M	possibly damaging	Het
Or51b6	T	A	7: 103,556,267 (GRCm39)	M207K	probably benign	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Pcdh17	A	T	14: 84,770,477 (GRCm39)	Y985F	probably benign	Het
Piezo1	G	T	8: 123,219,377 (GRCm39)	F1084L	probably damaging	Het
Pkhd1	A	G	1: 20,128,524 (GRCm39)	*4060Q	probably null	Het
Plekhn1	T	C	4: 156,310,051 (GRCm39)	T88A	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Rmdn2	T	A	17: 79,977,981 (GRCm39)		probably null	Het
Selenom	A	G	11: 3,467,132 (GRCm39)	E137G	probably benign	Het
Slc38a7	A	G	8: 96,570,380 (GRCm39)		probably benign	Het
Slc39a12	T	C	2: 14,400,878 (GRCm39)		probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Supt16	A	G	14: 52,417,596 (GRCm39)	L306P	probably damaging	Het
Tas2r136	A	T	6: 132,754,200 (GRCm39)	F309Y	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trim63	G	A	4: 134,042,665 (GRCm39)	C44Y	probably damaging	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r4	A	G	6: 56,934,116 (GRCm39)	R207G	probably damaging	Het
Vmn2r76	A	G	7: 85,874,763 (GRCm39)	V738A	probably benign	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly 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
R2981:Irf3	UTSW	7	44,648,124 (GRCm39)	splice site	probably null
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'- AGGCTAGAGCATGGAAACCC -3'
(R):5'- GCCCACTCCTAAAGATTTCCCG -3'

Sequencing Primer
(F):5'- TAGAGCATGGAAACCCCGAAAC -3'
(R):5'- TGCTCTTCCAAAGGTCCAGAG -3'

Posted On

2015-04-17