Mutagenetix > Incidental Mutation

Incidental Mutation 'R9166:Irf4'

696086

Institutional Source

Beutler Lab

Gene Symbol

Irf4

Ensembl Gene

ENSMUSG00000021356

Gene Name

interferon regulatory factor 4

Synonyms

IRF-4, Spip

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.486) question?

Stock #

R9166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30933209-30950959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30941484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 280 (H280L)

Ref Sequence

ENSEMBL: ENSMUSP00000021784 (fasta)

Gene Model

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

AlphaFold

Q64287

Predicted Effect

probably benign
Transcript: ENSMUST00000021784
AA Change: H280L

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

SMART Domains

Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: H280L

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
AA Change: H279L

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

SMART Domains

Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: H279L

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,853,046 (GRCm39)	L30P	possibly damaging	Het
Adgrb1	A	C	15: 74,420,475 (GRCm39)	M875L	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd13c	T	A	3: 157,705,357 (GRCm39)	S427T	probably benign	Het
Aopep	G	A	13: 63,318,862 (GRCm39)		probably null	Het
Ap3b1	A	C	13: 94,608,236 (GRCm39)	Y569S	probably damaging	Het
Bco2	A	G	9: 50,447,667 (GRCm39)	V352A	probably benign	Het
Bltp1	T	A	3: 37,041,516 (GRCm39)	N2630K	probably damaging	Het
Cacnb1	T	A	11: 97,910,534 (GRCm39)	D48V	probably damaging	Het
Cdr2l	C	A	11: 115,283,537 (GRCm39)	Q132K	probably benign	Het
Chrd	T	C	16: 20,554,572 (GRCm39)	M377T	probably benign	Het
Coq7	T	C	7: 118,109,365 (GRCm39)	T228A	unknown	Het
D7Ertd443e	G	A	7: 133,900,048 (GRCm39)	T438I	probably benign	Het
Dlc1	C	T	8: 37,066,589 (GRCm39)	E15K	probably damaging	Het
Dlgap5	C	T	14: 47,651,206 (GRCm39)	R109Q	probably damaging	Het
Dysf	T	C	6: 84,126,959 (GRCm39)	V1359A	probably damaging	Het
E2f7	C	T	10: 110,618,085 (GRCm39)	P717S	probably benign	Het
Elmo2	T	C	2: 165,132,438 (GRCm39)	D669G	probably benign	Het
Epha6	A	G	16: 60,425,238 (GRCm39)	V125A	probably benign	Het
Erg	G	T	16: 95,190,807 (GRCm39)	H119N	probably benign	Het
Fam13b	T	C	18: 34,595,252 (GRCm39)	S371G	probably benign	Het
Fancg	G	C	4: 43,006,800 (GRCm39)	Q297E	probably benign	Het
Gas2	A	G	7: 51,586,323 (GRCm39)	E145G	possibly damaging	Het
Gas7	T	C	11: 67,561,446 (GRCm39)	V218A	probably benign	Het
Gm9970	A	G	5: 31,398,345 (GRCm39)	S78P	unknown	Het
Hectd4	A	C	5: 121,446,690 (GRCm39)	D259A	probably damaging	Het
Hoxb2	T	G	11: 96,244,339 (GRCm39)	S317A	probably damaging	Het
Hspg2	T	C	4: 137,270,185 (GRCm39)	L2381P	probably damaging	Het
Irf7	A	G	7: 140,844,666 (GRCm39)	V142A	probably benign	Het
Kat7	T	C	11: 95,190,928 (GRCm39)	I94V	probably benign	Het
Kera	T	A	10: 97,448,830 (GRCm39)	I350K	possibly damaging	Het
Klf15	T	C	6: 90,443,952 (GRCm39)	S176P	probably benign	Het
Lrrc59	C	A	11: 94,522,959 (GRCm39)	T53N	probably benign	Het
Morn5	T	C	2: 35,945,024 (GRCm39)	Y83H	probably damaging	Het
Myef2l	A	G	3: 10,153,849 (GRCm39)	N206S	probably benign	Het
Neil3	A	C	8: 54,058,722 (GRCm39)	M273R	probably damaging	Het
Ngfr	A	T	11: 95,465,047 (GRCm39)	V267E	possibly damaging	Het
Nudc	T	C	4: 133,273,165 (GRCm39)	D11G	probably damaging	Het
Or2t1	A	T	14: 14,329,059 (GRCm38)	D316V	probably benign	Het
Or4a81	T	A	2: 89,619,291 (GRCm39)	N135I	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3cg	C	T	12: 32,242,213 (GRCm39)	G966R	probably damaging	Het
Ppfibp1	A	G	6: 146,920,980 (GRCm39)	T573A	probably damaging	Het
Ppp2r5a	C	A	1: 191,128,504 (GRCm39)	R37L	probably benign	Het
Prpf8	T	C	11: 75,387,340 (GRCm39)	F1207S	possibly damaging	Het
Prtg	A	T	9: 72,764,107 (GRCm39)	I527F	probably damaging	Het
Pspc1	A	G	14: 56,999,305 (GRCm39)	M317T	probably damaging	Het
Ptpru	C	T	4: 131,525,180 (GRCm39)	V768I	probably benign	Het
Ptx4	A	G	17: 25,343,546 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,274,842 (GRCm39)		probably null	Het
Rhobtb2	C	A	14: 70,034,703 (GRCm39)	G174V	probably damaging	Het
Sdad1	G	T	5: 92,446,080 (GRCm39)	S285*	probably null	Het
Sema4f	G	T	6: 82,890,626 (GRCm39)	S727*	probably null	Het
Sik1	A	G	17: 32,069,727 (GRCm39)	F241L	probably damaging	Het
Slc8b1	T	C	5: 120,662,096 (GRCm39)	S279P	probably benign	Het
Slco4a1	A	G	2: 180,106,034 (GRCm39)	E72G	probably benign	Het
Smok3c	A	T	5: 138,063,781 (GRCm39)	T423S	possibly damaging	Het
Sorcs3	T	C	19: 48,784,811 (GRCm39)	V1078A	probably benign	Het
Sptb	A	G	12: 76,673,776 (GRCm39)	V337A	probably damaging	Het
Tet2	C	A	3: 133,173,933 (GRCm39)	G1443V	probably damaging	Het
Ticam2	A	T	18: 46,694,048 (GRCm39)	L13H	probably damaging	Het
Tnrc6a	A	G	7: 122,786,624 (GRCm39)	E1562G	probably damaging	Het
Trim24	A	T	6: 37,934,074 (GRCm39)	K742N	probably damaging	Het
Trim56	A	T	5: 137,142,751 (GRCm39)	V255E	probably damaging	Het
Trmt12	A	G	15: 58,744,608 (GRCm39)	E2G	probably benign	Het
Tubd1	A	T	11: 86,452,091 (GRCm39)	T353S	probably benign	Het
Vim	T	C	2: 13,579,556 (GRCm39)	V105A	probably benign	Het
Vmn2r58	A	T	7: 41,513,431 (GRCm39)	V404E	probably damaging	Het
Wdr62	G	A	7: 29,941,874 (GRCm39)	P1115L	probably damaging	Het
Wfdc12	G	T	2: 164,032,193 (GRCm39)	C32*	probably null	Het
Zfp750	T	A	11: 121,403,980 (GRCm39)	R298S	probably damaging	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
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
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'- TTCGTGGAGCATCTTGACACTC -3'
(R):5'- TCCCAGTAGATCCTACTCTGGC -3'

Sequencing Primer
(F):5'- CGTATCAGTCTAGTCACCGAG -3'
(R):5'- GCAGAGTCTTTTGGCATAAAGC -3'

Posted On

2022-02-07