Mutagenetix > Incidental Mutation

Incidental Mutation 'R8686:Irf4'

662064

Institutional Source

Beutler Lab

Gene Symbol

Irf4

Ensembl Gene

ENSMUSG00000021356

Gene Name

interferon regulatory factor 4

Synonyms

IRF-4, Spip

MMRRC Submission

068541-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R8686 (G1)

Quality Score

147.008

Status

Validated

Chromosome

Chromosomal Location

30933209-30950959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30945433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 393 (D393V)

Ref Sequence

ENSEMBL: ENSMUSP00000021784 (fasta)

Gene Model

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

AlphaFold

Q64287

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021784
AA Change: D393V

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: D393V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110307
AA Change: D392V

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: D392V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,521 (GRCm39)	T596A	probably benign	Het
Adamts6	A	G	13: 104,450,207 (GRCm39)	I303V	probably damaging	Het
Alpl	A	T	4: 137,471,112 (GRCm39)	H341Q	probably damaging	Het
Cachd1	G	A	4: 100,845,325 (GRCm39)	R939H	probably damaging	Het
Cd22	G	A	7: 30,569,494 (GRCm39)	R541C	probably benign	Het
Cenpf	A	T	1: 189,391,801 (GRCm39)	M660K	probably benign	Het
Cmya5	A	T	13: 93,231,888 (GRCm39)	S1067T	possibly damaging	Het
Col5a2	C	T	1: 45,461,147 (GRCm39)	G250D	probably damaging	Het
Cylc2	C	T	4: 51,229,651 (GRCm39)	T331M	unknown	Het
Dgka	A	G	10: 128,568,962 (GRCm39)	M201T	probably benign	Het
Dnajc13	T	C	9: 104,048,004 (GRCm39)	I1804V	probably benign	Het
Dym	T	A	18: 75,419,754 (GRCm39)	Y642N	probably damaging	Het
Efr3b	A	T	12: 4,050,886 (GRCm39)	D26E	probably damaging	Het
Emilin1	A	T	5: 31,075,040 (GRCm39)	K427M	possibly damaging	Het
Fam187b	T	C	7: 30,676,659 (GRCm39)	L56S	probably benign	Het
Fbh1	C	T	2: 11,760,469 (GRCm39)	V694I	probably benign	Het
Fgd2	C	T	17: 29,597,997 (GRCm39)	T644I	probably benign	Het
G6pc1	T	G	11: 101,265,533 (GRCm39)		probably null	Het
Gli2	A	G	1: 118,764,417 (GRCm39)	S1245P	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Ighv1-84	T	C	12: 115,944,524 (GRCm39)	D50G	probably benign	Het
Impdh1	C	A	6: 29,216,214 (GRCm39)		probably benign	Het
Inhca	C	T	9: 103,136,627 (GRCm39)	A525T	probably benign	Het
Kalrn	A	G	16: 34,181,305 (GRCm39)	L111P	probably damaging	Het
Lrch3	T	C	16: 32,802,223 (GRCm39)	V58A	possibly damaging	Het
Lrif1	C	T	3: 106,640,097 (GRCm39)	T394I	probably damaging	Het
Map4k1	A	G	7: 28,693,498 (GRCm39)	T434A	probably benign	Het
Mcur1	G	A	13: 43,695,193 (GRCm39)	T327M	probably damaging	Het
Myo9b	G	T	8: 71,786,966 (GRCm39)	S716I	probably benign	Het
Nol10	T	A	12: 17,419,772 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,573,841 (GRCm39)	T202A	possibly damaging	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Or14j7	T	C	17: 38,235,168 (GRCm39)	V237A	probably benign	Het
Or2d4	A	C	7: 106,543,905 (GRCm39)	M101R	probably benign	Het
Parp12	A	T	6: 39,094,856 (GRCm39)	S80T	probably benign	Het
Pde1a	C	T	2: 79,758,086 (GRCm39)	V50I	probably benign	Het
Pfkl	A	T	10: 77,833,356 (GRCm39)		probably null	Het
Phkg1	A	T	5: 129,895,056 (GRCm39)	Y207N	probably damaging	Het
Pik3r4	A	G	9: 105,535,728 (GRCm39)	T640A	possibly damaging	Het
Pip5k1c	C	A	10: 81,147,827 (GRCm39)	H411N	probably damaging	Het
Pla2g4e	A	G	2: 120,075,172 (GRCm39)	S73P	probably damaging	Het
Polr2b	T	C	5: 77,483,510 (GRCm39)	V662A	probably damaging	Het
Prss43	C	T	9: 110,658,494 (GRCm39)	R265C	possibly damaging	Het
Rap1b	A	T	10: 117,658,746 (GRCm39)	V29D	probably damaging	Het
Rraga	A	G	4: 86,495,048 (GRCm39)	E298G	probably damaging	Het
Rrp8	A	T	7: 105,382,781 (GRCm39)	I418N	probably damaging	Het
Siglecf	T	C	7: 43,005,030 (GRCm39)	V420A	probably benign	Het
Snx14	T	A	9: 88,297,746 (GRCm39)	N174I	probably damaging	Het
Speer4e1	T	C	5: 14,984,129 (GRCm39)	N229S	probably benign	Het
Spopfm2	T	C	3: 94,083,427 (GRCm39)	D128G	probably benign	Het
Teddm3	A	G	16: 20,971,685 (GRCm39)	*295Q	probably null	Het
Tfap2c	A	G	2: 172,393,926 (GRCm39)	D245G	possibly damaging	Het
Tfap2d	A	G	1: 19,178,508 (GRCm39)	N191S	probably benign	Het
Tmt1b	A	T	10: 128,796,476 (GRCm39)	M111K	possibly damaging	Het
Unc80	A	G	1: 66,651,427 (GRCm39)	R1591G	possibly damaging	Het
Vmn1r116	T	C	7: 20,606,616 (GRCm39)	W146R	probably damaging	Het
Vps13b	C	G	15: 35,925,535 (GRCm39)	S3823R	probably damaging	Het
Wiz	T	A	17: 32,586,821 (GRCm39)	D163V	probably damaging	Het
Xylt1	G	C	7: 116,980,594 (GRCm39)	A61P	unknown	Het
Zfp521	A	C	18: 13,978,701 (GRCm39)	F571V	probably damaging	Het
Zfp664	T	A	5: 124,963,133 (GRCm39)	C176S	possibly damaging	Het
Zfyve26	T	C	12: 79,334,227 (GRCm39)	N264D	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
R3889:Irf4	UTSW	13	30,945,473 (GRCm39)	splice site	probably benign
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
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'- GCTCTAAGGGCTGGACTTAG -3'
(R):5'- TGTTCACTGGAGCCTGCTTC -3'

Sequencing Primer
(F):5'- GGCTCTCCCAAAGCAGACTTC -3'
(R):5'- GGAGCCTGCTTCCTCCTG -3'

Posted On

2021-03-08