Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01669:Irf4'

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103413

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irf4

Ensembl Gene

ENSMUSG00000021356

Gene Name

interferon regulatory factor 4

Synonyms

IRF-4, Spip

Accession Numbers

Genbank: NM_013674; MGI: 1096873

Is this an essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

30749226-30766976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30757471 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 270 (S270I)

Ref Sequence

ENSEMBL: ENSMUSP00000021784 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021784
AA Change: S270I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: S270I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110307
AA Change: S269I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: S269I

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

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	G	T	X: 142,343,188	D313E	probably damaging	Het
Aifm3	A	C	16: 17,503,541	K453T	probably benign	Het
Anks1b	T	C	10: 90,897,238		probably benign	Het
Arfgef1	T	C	1: 10,159,615	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,812,491	Q140*	probably null	Het
Bnipl	T	G	3: 95,242,734	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,391,757	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,681,195	A749V	probably damaging	Het
Ceacam18	G	A	7: 43,645,515	G333E	probably damaging	Het
Cul7	G	T	17: 46,658,715	M969I	possibly damaging	Het
Cylc2	A	G	4: 51,228,360	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,098,051	H294L	probably damaging	Het
D430041D05Rik	T	C	2: 104,254,961	K1081R	probably damaging	Het
D930020B18Rik	A	G	10: 121,683,961	K456R	probably benign	Het
Drd2	A	G	9: 49,402,089	N186S	possibly damaging	Het
Fanci	A	T	7: 79,449,177	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,527,709		probably benign	Het
Galk2	T	A	2: 125,887,887	Y63N	probably damaging	Het
Git2	T	C	5: 114,767,105	D97G	probably damaging	Het
Gm8258	T	A	5: 104,776,074		noncoding transcript	Het
Itgb3	C	A	11: 104,633,390		probably benign	Het
Itpr2	A	C	6: 146,180,229	I2299R	probably damaging	Het
Lig4	T	C	8: 9,973,673	I36V	probably benign	Het
Nedd9	A	G	13: 41,338,635	V133A	probably damaging	Het
Nup133	A	C	8: 123,939,130	Y185*	probably null	Het
Olfr1162	T	C	2: 88,049,784	Y280C	possibly damaging	Het
Olfr623	A	T	7: 103,660,987	F88I	probably benign	Het
Olfr788	A	G	10: 129,473,211	H173R	probably damaging	Het
Pgbd5	T	A	8: 124,374,399	T373S	possibly damaging	Het
Ppp1r8	T	C	4: 132,828,169	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,627,900	V89M	probably damaging	Het
Rnf123	T	C	9: 108,058,356	I969V	probably damaging	Het
Ror2	A	G	13: 53,111,088	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,263,490	E503G	probably benign	Het
Smgc	T	A	15: 91,860,684	S381T	possibly damaging	Het
Tlr4	T	G	4: 66,841,267	F766V	possibly damaging	Het
Tnc	T	C	4: 64,000,701	T1162A	probably damaging	Het
Usp39	A	G	6: 72,338,493	V156A	probably damaging	Het
Zdhhc5	A	G	2: 84,691,194	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,878,965	T105A	probably benign	Het

Other mutations in Irf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Irf4	APN	13	30751784	missense	probably damaging	1.00
IGL01154:Irf4	APN	13	30757421	missense	possibly damaging	0.46
IGL02729:Irf4	APN	13	30753591	critical splice donor site	probably null
IGL03197:Irf4	APN	13	30763520	splice site	probably benign
honey	UTSW	13	30751751	missense	probably damaging	0.99
Honey2	UTSW	13	30761490	splice site	probably benign
miel	UTSW	13	30761462	missense	probably benign	0.00
R1300:Irf4	UTSW	13	30757585	missense	probably damaging	0.98
R1656:Irf4	UTSW	13	30757502	missense	probably benign
R1914:Irf4	UTSW	13	30761462	missense	probably benign	0.00
R1915:Irf4	UTSW	13	30761462	missense	probably benign	0.00
R3889:Irf4	UTSW	13	30761490	splice site	probably benign
R4648:Irf4	UTSW	13	30763597	missense	probably benign	0.00
R5553:Irf4	UTSW	13	30751828	missense	probably damaging	1.00
R5913:Irf4	UTSW	13	30757758	missense	probably benign
R7809:Irf4	UTSW	13	30757432	missense	probably benign	0.07
R7894:Irf4	UTSW	13	30753452	missense	probably benign
R8051:Irf4	UTSW	13	30761473	missense	probably damaging	0.98
R8393:Irf4	UTSW	13	30763627	missense	probably damaging	0.99
Z1177:Irf4	UTSW	13	30750661	missense	probably damaging	0.98
Z1177:Irf4	UTSW	13	30750663	missense	probably damaging	1.00

Posted On

2014-01-21