Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:Irf4'

461137

Institutional Source

Beutler Lab

Gene Symbol

Irf4

Ensembl Gene

ENSMUSG00000021356

Gene Name

interferon regulatory factor 4

Synonyms

IRF-4, Spip

MMRRC Submission

044110-MU

Accession Numbers

Essential gene?

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

Stock #

R5913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30933209-30950959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30941741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 365 (S365T)

Ref Sequence

ENSEMBL: ENSMUSP00000105936 (fasta)

Gene Model

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

AlphaFold

Q64287

Predicted Effect

probably benign
Transcript: ENSMUST00000021784
AA Change: S366T

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

SMART Domains

Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: S366T

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: S365T

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

SMART Domains

Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: S365T

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

0.0825

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,718,773 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,609 (GRCm39)	H457L	probably benign	Het
Armc3	A	G	2: 19,314,858 (GRCm39)	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,187,612 (GRCm39)	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,642,154 (GRCm39)	M366R	possibly damaging	Het
Bora	C	T	14: 99,305,948 (GRCm39)	S439L	probably benign	Het
Cacnb4	G	A	2: 52,324,796 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,498,848 (GRCm39)	S529P	probably benign	Het
Cd200r1	A	G	16: 44,610,034 (GRCm39)	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,798,742 (GRCm39)	S22P	probably benign	Het
Celf2	A	T	2: 7,085,969 (GRCm39)	M1K	probably null	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep95	T	C	11: 106,709,335 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,131,760 (GRCm39)	R366K	probably benign	Het
Csmd2	A	G	4: 128,445,781 (GRCm39)	K3284E	probably benign	Het
Csn3	T	A	5: 88,075,470 (GRCm39)	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,879,691 (GRCm39)	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,101,671 (GRCm39)	W55*	probably null	Het
Cyp2u1	G	A	3: 131,096,860 (GRCm39)		probably benign	Het
Dmgdh	A	T	13: 93,888,831 (GRCm39)	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,339,256 (GRCm39)	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,312,018 (GRCm39)	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365 (GRCm39)	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035 (GRCm39)	W224*	probably null	Het
Gm37240	T	C	3: 84,874,905 (GRCm39)		probably benign	Het
Gpr3	A	G	4: 132,938,489 (GRCm39)	V61A	probably damaging	Het
Gulo	T	C	14: 66,237,470 (GRCm39)		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,462,037 (GRCm39)	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,582,732 (GRCm39)	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,432,580 (GRCm39)	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,432,581 (GRCm39)	Q339L	probably damaging	Het
Klrb1a	T	G	6: 128,595,472 (GRCm39)	D124A	probably damaging	Het
Macf1	A	T	4: 123,369,832 (GRCm39)	I78N	probably damaging	Het
Mctp1	G	T	13: 76,907,944 (GRCm39)		probably null	Het
Muc21	C	T	17: 35,934,123 (GRCm39)		probably benign	Het
Mxra8	A	T	4: 155,927,760 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,327,902 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
P2ry13	T	C	3: 59,116,786 (GRCm39)	T331A	probably benign	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,607,707 (GRCm39)	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,889,045 (GRCm39)	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,891,142 (GRCm39)	R717G	probably benign	Het
Pcif1	C	A	2: 164,726,412 (GRCm39)		probably benign	Het
Pkd1l1	T	C	11: 8,813,849 (GRCm39)	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,064,027 (GRCm39)	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,307,152 (GRCm39)	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,519,368 (GRCm39)	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,993,425 (GRCm39)	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 72,036,907 (GRCm39)	P381L	probably benign	Het
Slc8a1	T	A	17: 81,955,431 (GRCm39)	I536F	probably damaging	Het
Src	T	A	2: 157,307,950 (GRCm39)		probably null	Het
Sybu	T	A	15: 44,651,017 (GRCm39)	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,929 (GRCm39)	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,939,302 (GRCm39)	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,858,209 (GRCm39)	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,056,988 (GRCm39)	L49Q	probably damaging	Het
Trem2	T	A	17: 48,653,661 (GRCm39)		probably benign	Het
Tspyl3	T	A	2: 153,066,636 (GRCm39)	M201L	probably benign	Het
Ttl	A	G	2: 128,917,961 (GRCm39)	D141G	probably benign	Het
Ube2z	A	G	11: 95,951,889 (GRCm39)	V153A	possibly damaging	Het
Ubr3	A	G	2: 69,851,559 (GRCm39)	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,086,229 (GRCm39)	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Vmo1	A	T	11: 70,405,241 (GRCm39)	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,798,269 (GRCm39)	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765 (GRCm39)	S425R	possibly 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
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'- AGAAGTTGCTGAGCCACCTG -3'
(R):5'- GCAAATATGGATCCTCTTTCTGG -3'

Sequencing Primer
(F):5'- TTGCTGAGCCACCTGGAGAG -3'
(R):5'- CTCTGCTAATCAGGGGAGTACAC -3'

Posted On

2017-02-28