Mutagenetix > Incidental Mutation

Incidental Mutation 'R3889:Irf4'

310204

Institutional Source

Beutler Lab

Gene Symbol

Irf4

Ensembl Gene

ENSMUSG00000021356

Gene Name

interferon regulatory factor 4

Synonyms

IRF-4, Spip

MMRRC Submission

040801-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R3889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30933209-30950959 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 30945473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021784] [ENSMUST00000110307]

AlphaFold

Q64287

Predicted Effect

probably benign
Transcript: ENSMUST00000021784

SMART Domains

Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356

Domain	Start	End	E-Value	Type
IRF	17	130	6.96e-64	SMART
IRF-3	249	418	1.17e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110307

SMART Domains

Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356

Domain	Start	End	E-Value	Type
IRF	17	130	6.96e-64	SMART
IRF-3	248	417	1.17e-84	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

94% (51/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display immune system abnormalities involving development of both T and B cells and affecting susceptibility to both bacterial and viral infections as well as impaired thermogenic gene expression and energy expenditure. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Targeted, other(1)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
7530416G11Rik	A	G	15: 85,378,292 (GRCm39)	F117S	unknown	Het
Adamts5	A	G	16: 85,665,009 (GRCm39)	W652R	probably damaging	Het
Adamtsl4	G	T	3: 95,588,167 (GRCm39)	Q607K	probably damaging	Het
Atm	T	C	9: 53,417,936 (GRCm39)		probably benign	Het
Atp6v0a2	G	A	5: 124,777,203 (GRCm39)	R168Q	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Baiap2l1	T	C	5: 144,215,345 (GRCm39)	T387A	possibly damaging	Het
Cct3	A	T	3: 88,228,334 (GRCm39)	Q472L	probably benign	Het
Chd3	C	T	11: 69,250,011 (GRCm39)	E623K	probably damaging	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
Dclre1a	A	T	19: 56,533,752 (GRCm39)	C263S	probably benign	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Eif2ak1	A	T	5: 143,821,479 (GRCm39)	Q265L	probably benign	Het
Elp1	G	A	4: 56,759,852 (GRCm39)	R1138C	probably damaging	Het
Epha3	A	G	16: 63,431,327 (GRCm39)	F526L	probably damaging	Het
Etl4	C	T	2: 20,534,772 (GRCm39)	Q76*	probably null	Het
Fat2	C	A	11: 55,172,589 (GRCm39)	G2708V	probably damaging	Het
Fgd6	G	A	10: 93,925,499 (GRCm39)	E853K	probably damaging	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Fsd1	A	G	17: 56,300,893 (GRCm39)	K251E	probably benign	Het
Gjc3	T	A	5: 137,956,105 (GRCm39)	N60I	possibly damaging	Het
Gpc5	T	C	14: 115,607,472 (GRCm39)	M358T	probably benign	Het
H6pd	T	A	4: 150,080,230 (GRCm39)	Y197F	possibly damaging	Het
Hip1r	C	T	5: 124,139,854 (GRCm39)	R986*	probably null	Het
Igkv9-120	A	G	6: 68,027,362 (GRCm39)	D92G	probably damaging	Het
Il6	A	G	5: 30,223,066 (GRCm39)	K128E	possibly damaging	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Ltbp2	A	G	12: 84,831,681 (GRCm39)		probably benign	Het
Pcmt1	C	T	10: 7,524,814 (GRCm39)		probably null	Het
Plekhm2	C	T	4: 141,369,301 (GRCm39)		probably benign	Het
Prkca	C	T	11: 107,870,066 (GRCm39)	G450R	probably damaging	Het
Psme3	C	A	11: 101,210,282 (GRCm39)	P82T	probably damaging	Het
Rgs11	T	C	17: 26,426,561 (GRCm39)	I262T	probably damaging	Het
Rreb1	G	T	13: 38,077,941 (GRCm39)	R51L	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpina1e	A	T	12: 103,917,132 (GRCm39)	V179E	probably damaging	Het
Sgo2b	T	C	8: 64,380,777 (GRCm39)	Q685R	possibly damaging	Het
Slc15a2	A	G	16: 36,602,666 (GRCm39)	F65S	probably damaging	Het
Slc25a45	C	T	19: 5,930,661 (GRCm39)		probably benign	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Spen	A	G	4: 141,205,192 (GRCm39)	V1145A	unknown	Het
Stub1	T	C	17: 26,050,276 (GRCm39)		probably benign	Het
Taar8a	A	G	10: 23,952,923 (GRCm39)	I176V	probably benign	Het
Tacr2	G	A	10: 62,100,865 (GRCm39)	C325Y	probably damaging	Het
Tbc1d17	T	A	7: 44,495,362 (GRCm39)	H154L	probably damaging	Het
Tll1	A	T	8: 64,658,258 (GRCm39)	C54S	possibly damaging	Het
Tpsb2	G	A	17: 25,586,457 (GRCm39)	V181I	probably damaging	Het
Trak1	A	G	9: 121,274,939 (GRCm39)	N146S	probably null	Het
Vmn1r177	T	C	7: 23,565,289 (GRCm39)	I196V	possibly damaging	Het
Zfp820	T	C	17: 22,037,877 (GRCm39)	I484V	probably benign	Het

Other mutations in Irf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Irf4	APN	13	30,935,767 (GRCm39)	missense	probably damaging	1.00
IGL01154:Irf4	APN	13	30,941,404 (GRCm39)	missense	possibly damaging	0.46
IGL01669:Irf4	APN	13	30,941,454 (GRCm39)	missense	probably damaging	0.99
IGL02729:Irf4	APN	13	30,937,574 (GRCm39)	critical splice donor site	probably null
IGL03197:Irf4	APN	13	30,947,503 (GRCm39)	splice site	probably benign
honey	UTSW	13	30,935,734 (GRCm39)	missense	probably damaging	0.99
Honey2	UTSW	13	30,945,473 (GRCm39)	splice site	probably benign
miel	UTSW	13	30,945,445 (GRCm39)	missense	probably benign	0.00
R1300:Irf4	UTSW	13	30,941,568 (GRCm39)	missense	probably damaging	0.98
R1656:Irf4	UTSW	13	30,941,485 (GRCm39)	missense	probably benign
R1914:Irf4	UTSW	13	30,945,445 (GRCm39)	missense	probably benign	0.00
R1915:Irf4	UTSW	13	30,945,445 (GRCm39)	missense	probably benign	0.00
R4648:Irf4	UTSW	13	30,947,580 (GRCm39)	missense	probably benign	0.00
R5553:Irf4	UTSW	13	30,935,811 (GRCm39)	missense	probably damaging	1.00
R5913:Irf4	UTSW	13	30,941,741 (GRCm39)	missense	probably benign
R7809:Irf4	UTSW	13	30,941,415 (GRCm39)	missense	probably benign	0.07
R7894:Irf4	UTSW	13	30,937,435 (GRCm39)	missense	probably benign
R8051:Irf4	UTSW	13	30,945,456 (GRCm39)	missense	probably damaging	0.98
R8393:Irf4	UTSW	13	30,947,610 (GRCm39)	missense	probably damaging	0.99
R8686:Irf4	UTSW	13	30,945,433 (GRCm39)	missense	possibly damaging	0.73
R8856:Irf4	UTSW	13	30,945,414 (GRCm39)	missense	probably damaging	1.00
R9166:Irf4	UTSW	13	30,941,484 (GRCm39)	missense	probably benign
R9352:Irf4	UTSW	13	30,936,706 (GRCm39)	missense	probably benign
Z1177:Irf4	UTSW	13	30,934,646 (GRCm39)	missense	probably damaging	1.00
Z1177:Irf4	UTSW	13	30,934,644 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCAGGTGTCTGAACAGTTTGG -3'
(R):5'- TTGGGTCCAAGTCATCTGCC -3'

Sequencing Primer
(F):5'- GAGATTCCAGGTGACTCT -3'
(R):5'- ATCTGCCCTGCTGATTCGGTG -3'

Posted On

2015-04-17