Mutagenetix > Incidental Mutation

Incidental Mutation 'R9153:Irf8'

695155

Institutional Source

Beutler Lab

Gene Symbol

Irf8

Ensembl Gene

ENSMUSG00000041515

Gene Name

interferon regulatory factor 8

Synonyms

ICSBP, Myls, IRF-8, Icsbp1

MMRRC Submission

068940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121463097-121483433 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121480400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 304 (C304R)

Ref Sequence

ENSEMBL: ENSMUSP00000040245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047737] [ENSMUST00000127664] [ENSMUST00000160943] [ENSMUST00000162001] [ENSMUST00000162658]

AlphaFold

P23611

Predicted Effect

probably benign
Transcript: ENSMUST00000047737
AA Change: C304R

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

SMART Domains

Protein: ENSMUSP00000040245
Gene: ENSMUSG00000041515
AA Change: C304R

Domain	Start	End	E-Value	Type
IRF	3	115	8.69e-65	SMART
Blast:IRF	129	176	7e-11	BLAST
IRF-3	202	380	2.63e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160943
AA Change: C213R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125447
Gene: ENSMUSG00000041515
AA Change: C213R

Domain	Start	End	E-Value	Type
IRF	3	85	2.54e-16	SMART
IRF-3	111	289	2.63e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162001
AA Change: C304R

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

SMART Domains

Protein: ENSMUSP00000125029
Gene: ENSMUSG00000041515
AA Change: C304R

Domain	Start	End	E-Value	Type
IRF	3	115	8.69e-65	SMART
Blast:IRF	129	176	7e-11	BLAST
IRF-3	202	380	2.63e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162658

SMART Domains

Protein: ENSMUSP00000125443
Gene: ENSMUSG00000041515

Domain	Start	End	E-Value	Type
IRF	3	85	2.54e-16	SMART
Pfam:IRF-3	111	151	4.7e-9	PFAM

Meta Mutation Damage Score

0.0813

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a transcription factor that belongs to the interferon regulatory factor family. Proteins belonging to this family have a DNA binding domain at the amino terminus that contains five well-conserved tryptophan-rich repeats. This domain recognizes DNA sequences similar to the interferon-stimulated response element. The protein encoded by this gene promotes or suppresses lineage-specific genes to regulate the differentation of lymphoid and myeloid lineage cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased incidence of viral infections, shortened life span, deregulated hematopoiesis, and hematological neoplasias. Heterozygotes show similar, but milder, phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,107,481 (GRCm39)	S711R	possibly damaging	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap13	A	G	7: 75,259,229 (GRCm39)	T618A	probably benign	Het
Ankfn1	G	A	11: 89,302,845 (GRCm39)	R58W	probably damaging	Het
Atp8b5	A	G	4: 43,308,493 (GRCm39)		probably benign	Het
Borcs5	G	T	6: 134,618,108 (GRCm39)		probably benign	Het
C1s1	T	C	6: 124,517,906 (GRCm39)	M25V	possibly damaging	Het
Canx	A	T	11: 50,188,162 (GRCm39)	D527E	probably benign	Het
Ccdc154	G	A	17: 25,382,152 (GRCm39)	D24N	probably damaging	Het
Ccnt1	G	A	15: 98,441,159 (GRCm39)	T703I	probably benign	Het
Cd46	T	C	1: 194,774,479 (GRCm39)	S19G	possibly damaging	Het
Cdc25b	G	A	2: 131,034,564 (GRCm39)	E264K	possibly damaging	Het
Cdhr17	A	T	5: 17,040,916 (GRCm39)		probably null	Het
Cog5	A	C	12: 31,710,810 (GRCm39)	K63N	possibly damaging	Het
Col28a1	G	A	6: 8,022,765 (GRCm39)	T726I	probably benign	Het
Dhx40	A	G	11: 86,690,365 (GRCm39)	S219P	probably damaging	Het
Dnah12	T	A	14: 26,536,569 (GRCm39)	W2162R	probably damaging	Het
Eef1a2	A	G	2: 180,789,774 (GRCm39)	*464R	probably null	Het
Eif1a	T	A	18: 46,741,036 (GRCm39)	D90E	probably damaging	Het
Fasn	C	T	11: 120,706,496 (GRCm39)	R996Q	possibly damaging	Het
Foxred2	A	G	15: 77,839,787 (GRCm39)		probably null	Het
Frat2	A	G	19: 41,835,806 (GRCm39)	L182P	probably damaging	Het
Fxyd2	G	T	9: 45,319,609 (GRCm39)	V24F	probably damaging	Het
Gabrd	C	T	4: 155,470,496 (GRCm39)	V319I	probably damaging	Het
H13	T	G	2: 152,533,788 (GRCm39)	V267G	possibly damaging	Het
Hnf4g	T	C	3: 3,573,378 (GRCm39)		probably benign	Het
Iglon5	T	A	7: 43,125,421 (GRCm39)	T272S	possibly damaging	Het
Iqgap2	T	A	13: 95,844,547 (GRCm39)	M454L	probably benign	Het
Itga2	A	G	13: 115,001,941 (GRCm39)	F614L	probably benign	Het
Itgb4	A	C	11: 115,874,879 (GRCm39)	H412P	probably benign	Het
Jarid2	T	C	13: 45,064,678 (GRCm39)	F921S	probably damaging	Het
Kctd13	A	G	7: 126,541,327 (GRCm39)	D189G	probably damaging	Het
Meis2	G	T	2: 115,697,756 (GRCm39)	P381T	probably benign	Het
Mertk	G	T	2: 128,624,487 (GRCm39)	A633S	probably damaging	Het
Morn5	A	G	2: 35,942,993 (GRCm39)	Y31C	probably damaging	Het
Mug2	A	T	6: 122,017,627 (GRCm39)	T455S	possibly damaging	Het
Myo3a	A	G	2: 22,404,744 (GRCm39)	N700S	probably benign	Het
Nisch	T	C	14: 30,896,782 (GRCm39)	T807A	unknown	Het
Nkx1-1	A	T	5: 33,588,703 (GRCm39)	V195E	unknown	Het
Numa1	A	G	7: 101,649,118 (GRCm39)	T950A	probably benign	Het
Nup160	A	G	2: 90,514,429 (GRCm39)	T126A	possibly damaging	Het
Oca2	C	T	7: 55,943,586 (GRCm39)	T253I	probably benign	Het
Odad2	T	C	18: 7,286,733 (GRCm39)	K166R	possibly damaging	Het
Or6c209	T	A	10: 129,483,306 (GRCm39)	I103N	possibly damaging	Het
P4ha1	A	G	10: 59,203,112 (GRCm39)	K435R	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,131 (GRCm39)	N175K	possibly damaging	Het
Per3	A	G	4: 151,111,796 (GRCm39)	L396P	probably benign	Het
Phactr3	A	T	2: 177,925,739 (GRCm39)	E338V	possibly damaging	Het
Plec	G	T	15: 76,064,725 (GRCm39)	R1782S	unknown	Het
Prpf39	A	T	12: 65,106,671 (GRCm39)	Q593L	probably damaging	Het
Ptprq	T	C	10: 107,416,126 (GRCm39)	Y1724C	probably damaging	Het
Pygo1	T	A	9: 72,852,143 (GRCm39)	V110D	possibly damaging	Het
Rasgrf1	T	A	9: 89,826,790 (GRCm39)	L133Q	probably damaging	Het
Rgs10	G	A	7: 127,975,733 (GRCm39)	R145C	probably damaging	Het
Secisbp2	A	G	13: 51,833,855 (GRCm39)	Y665C	possibly damaging	Het
Sel1l3	T	A	5: 53,293,188 (GRCm39)	T843S	probably benign	Het
Senp7	G	A	16: 56,006,486 (GRCm39)	V964I	probably benign	Het
Setd4	T	A	16: 93,384,722 (GRCm39)	D322V	possibly damaging	Het
Sftpc	T	A	14: 70,759,650 (GRCm39)	T90S	probably benign	Het
Shq1	A	T	6: 100,588,738 (GRCm39)	D382E	probably damaging	Het
Sim1	A	G	10: 50,772,029 (GRCm39)	R13G	probably damaging	Het
Slc12a1	T	G	2: 125,002,989 (GRCm39)		probably benign	Het
Slc27a6	T	C	18: 58,731,805 (GRCm39)	F385S	probably benign	Het
Stk38l	A	G	6: 146,660,048 (GRCm39)	T27A	probably benign	Het
Tasp1	A	G	2: 139,899,327 (GRCm39)	S9P	probably damaging	Het
Tcstv1a	T	A	13: 120,355,290 (GRCm39)	D114V	probably damaging	Het
Tmigd1	A	T	11: 76,795,468 (GRCm39)	R25S	probably benign	Het
Tnrc6a	T	A	7: 122,773,519 (GRCm39)	Y1154N	probably damaging	Het
Tox2	T	C	2: 163,045,091 (GRCm39)	V3A		Het
Ubr1	A	T	2: 120,756,469 (GRCm39)	D719E	probably benign	Het
Ubr3	A	G	2: 69,795,822 (GRCm39)	K923R		Het
Vmn2r12	C	T	5: 109,234,203 (GRCm39)	V670M	probably damaging	Het
Zfp983	T	C	17: 21,876,522 (GRCm39)	S9P	probably benign	Het
Zfp986	A	T	4: 145,626,030 (GRCm39)	H230L	probably damaging	Het
Zscan4f	G	A	7: 11,135,241 (GRCm39)	E216K	probably benign	Het

Other mutations in Irf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Irf8	APN	8	121,480,119 (GRCm39)	missense	probably damaging	1.00
IGL02944:Irf8	APN	8	121,481,864 (GRCm39)	missense	probably benign	0.00
IGL03024:Irf8	APN	8	121,480,097 (GRCm39)	missense	probably damaging	0.98
gemini	UTSW	8	121,470,622 (GRCm39)	nonsense	probably null
gemini2	UTSW	8	121,480,446 (GRCm39)	missense	probably damaging	0.97
glenn	UTSW	8	121,466,581 (GRCm39)	missense	probably damaging	1.00
ANU74:Irf8	UTSW	8	121,466,608 (GRCm39)	missense	possibly damaging	0.75
R0211:Irf8	UTSW	8	121,466,714 (GRCm39)	missense	probably damaging	1.00
R0211:Irf8	UTSW	8	121,466,714 (GRCm39)	missense	probably damaging	1.00
R0840:Irf8	UTSW	8	121,480,220 (GRCm39)	missense	probably benign	0.06
R1622:Irf8	UTSW	8	121,466,561 (GRCm39)	missense	possibly damaging	0.86
R1715:Irf8	UTSW	8	121,481,127 (GRCm39)	missense	probably damaging	0.98
R2274:Irf8	UTSW	8	121,480,266 (GRCm39)	missense	probably damaging	0.99
R2875:Irf8	UTSW	8	121,481,202 (GRCm39)	missense	probably damaging	1.00
R3743:Irf8	UTSW	8	121,480,310 (GRCm39)	missense	probably damaging	1.00
R4209:Irf8	UTSW	8	121,480,208 (GRCm39)	missense	probably damaging	0.99
R4729:Irf8	UTSW	8	121,480,178 (GRCm39)	missense	probably damaging	0.99
R6343:Irf8	UTSW	8	121,480,446 (GRCm39)	missense	probably damaging	0.97
R6950:Irf8	UTSW	8	121,481,864 (GRCm39)	missense	probably benign	0.00
R7051:Irf8	UTSW	8	121,466,581 (GRCm39)	missense	probably damaging	1.00
R7052:Irf8	UTSW	8	121,466,581 (GRCm39)	missense	probably damaging	1.00
R7249:Irf8	UTSW	8	121,466,571 (GRCm39)	missense	possibly damaging	0.92
R9613:Irf8	UTSW	8	121,481,207 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCATCAGCTTCTACTACGG -3'
(R):5'- CACTTGGCCCATGATACAGG -3'

Sequencing Primer
(F):5'- AGCTTCTACTACGGGGGCAAG -3'
(R):5'- GCCCATGATACAGGAGGCAC -3'

Posted On

2022-01-20