Mutagenetix > Incidental Mutation

Incidental Mutation 'R7051:Irf8'

547593

Institutional Source

Beutler Lab

Gene Symbol

Irf8

Ensembl Gene

ENSMUSG00000041515

Gene Name

interferon regulatory factor 8

Synonyms

ICSBP, Myls, IRF-8, Icsbp1

MMRRC Submission

045148-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121463097-121483433 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121466581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 9 (R9W)

Ref Sequence

ENSEMBL: ENSMUSP00000125029 (fasta)

Gene Model

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

AlphaFold

P23611

Predicted Effect

probably damaging
Transcript: ENSMUST00000047737
AA Change: R9W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040245
Gene: ENSMUSG00000041515
AA Change: R9W

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

unknown
Transcript: ENSMUST00000160943
AA Change: R9W

SMART Domains

Protein: ENSMUSP00000125447
Gene: ENSMUSG00000041515
AA Change: R9W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162001
AA Change: R9W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125029
Gene: ENSMUSG00000041515
AA Change: R9W

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 damaging
Transcript: ENSMUST00000162658
AA Change: R9W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125443
Gene: ENSMUSG00000041515
AA Change: R9W

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

0.8757

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (80/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	C	T	8: 33,919,201 (GRCm39)	S7L	unknown	Het
Aggf1	T	C	13: 95,488,125 (GRCm39)	K674R	possibly damaging	Het
Ampd1	T	C	3: 102,997,389 (GRCm39)	F264L	probably damaging	Het
Ankle1	A	T	8: 71,860,387 (GRCm39)	S302C	probably damaging	Het
Ankrd17	G	A	5: 90,514,310 (GRCm39)		probably benign	Het
Arhgap18	T	A	10: 26,725,917 (GRCm39)	N47K	possibly damaging	Het
Atp5pb	T	C	3: 105,851,083 (GRCm39)	N205D	probably benign	Het
Atp8b3	C	T	10: 80,355,858 (GRCm39)	E1285K	probably benign	Het
Atp8b3	C	A	10: 80,365,552 (GRCm39)	V401L	probably damaging	Het
Cacna1a	G	A	8: 85,356,544 (GRCm39)	R1929Q	possibly damaging	Het
Cadm2	C	T	16: 66,679,767 (GRCm39)	S22N	possibly damaging	Het
Ccdc177	C	T	12: 80,805,927 (GRCm39)	V116M	probably damaging	Het
Cdhr18	A	G	14: 13,828,486 (GRCm38)	V758A		Het
Cdkl2	A	T	5: 92,181,084 (GRCm39)	I185N	probably damaging	Het
Cfhr2	T	A	1: 139,738,716 (GRCm39)	I282L	probably benign	Het
Clns1a	T	A	7: 97,361,824 (GRCm39)		probably null	Het
Commd2	A	T	3: 57,554,107 (GRCm39)	I198N	probably damaging	Het
Creb3l2	C	T	6: 37,313,200 (GRCm39)	V365I	possibly damaging	Het
Dcaf6	A	T	1: 165,251,886 (GRCm39)	N79K	possibly damaging	Het
Dlg5	T	C	14: 24,196,263 (GRCm39)	N1622D	possibly damaging	Het
Dock7	C	T	4: 98,834,969 (GRCm39)	R1802H	probably damaging	Het
Dpy19l2	T	C	9: 24,495,789 (GRCm39)	K643R	probably benign	Het
Dscam	G	A	16: 96,620,986 (GRCm39)	T574M	probably benign	Het
Fam209	A	G	2: 172,315,969 (GRCm39)	T115A	probably damaging	Het
Fastkd5	C	T	2: 130,456,337 (GRCm39)	C751Y	probably damaging	Het
Fat3	C	A	9: 16,289,123 (GRCm39)	L133F	probably damaging	Het
Fcsk	A	T	8: 111,616,971 (GRCm39)	I393N	probably damaging	Het
Frmd6	T	C	12: 70,944,170 (GRCm39)	V516A	possibly damaging	Het
Fry	G	A	5: 150,318,634 (GRCm39)	D955N	possibly damaging	Het
Gm7298	T	C	6: 121,751,993 (GRCm39)		probably null	Het
Golga7b	T	A	19: 42,256,899 (GRCm39)	*168R	probably null	Het
Golim4	T	A	3: 75,800,309 (GRCm39)	Q395L	probably benign	Het
Gxylt2	T	A	6: 100,781,537 (GRCm39)	L404*	probably null	Het
H1f4	A	G	13: 23,806,422 (GRCm39)	V20A	probably benign	Het
Ighmbp2	G	T	19: 3,311,462 (GRCm39)	S984R	probably damaging	Het
Itga4	T	C	2: 79,148,470 (GRCm39)	V788A	possibly damaging	Het
Kifap3	G	A	1: 163,621,649 (GRCm39)	R99H	probably damaging	Het
Kiss1r	T	C	10: 79,754,688 (GRCm39)	S61P	probably damaging	Het
Krtap6-1	A	T	16: 88,828,606 (GRCm39)	M1L	unknown	Het
Large2	A	T	2: 92,197,367 (GRCm39)	M411K	probably damaging	Het
Lcor	A	G	19: 41,574,191 (GRCm39)	D982G	probably benign	Het
Lingo1	A	G	9: 56,527,467 (GRCm39)	V374A	probably benign	Het
Lrch1	A	G	14: 75,022,962 (GRCm39)	V637A	probably damaging	Het
Lyar	T	C	5: 38,382,024 (GRCm39)	V2A	probably damaging	Het
Nell1	C	T	7: 50,098,592 (GRCm39)	S298L	unknown	Het
Ogfod3	T	A	11: 121,086,031 (GRCm39)	I188F	probably damaging	Het
Opa3	C	A	7: 18,978,961 (GRCm39)	A142E	possibly damaging	Het
Or5b123	T	A	19: 13,596,769 (GRCm39)	M81K	possibly damaging	Het
Or5k1	T	C	16: 58,617,538 (GRCm39)	T224A	probably benign	Het
Pald1	T	C	10: 61,159,125 (GRCm39)	R769G	probably benign	Het
Pappa2	T	A	1: 158,784,753 (GRCm39)	T86S	unknown	Het
Papss1	T	C	3: 131,307,811 (GRCm39)	Y266H	probably damaging	Het
Pcdhga7	C	A	18: 37,849,994 (GRCm39)	A667D	probably damaging	Het
Pcsk5	T	A	19: 17,411,095 (GRCm39)	T1766S	probably benign	Het
Pds5b	T	A	5: 150,717,747 (GRCm39)	N1129K	possibly damaging	Het
Pop7	T	C	5: 137,499,952 (GRCm39)	N127S	probably damaging	Het
Ppfibp2	A	G	7: 107,316,925 (GRCm39)	E300G	probably damaging	Het
Ppp4r3b	A	G	11: 29,132,507 (GRCm39)	K87E	probably damaging	Het
Psmd3	T	A	11: 98,573,659 (GRCm39)	M35K	possibly damaging	Het
Pus7	A	G	5: 23,980,677 (GRCm39)	V191A	probably damaging	Het
Rptor	C	T	11: 119,765,012 (GRCm39)		probably benign	Het
Sacs	A	G	14: 61,446,377 (GRCm39)	M2808V	probably benign	Het
Scube3	G	A	17: 28,386,573 (GRCm39)	V831I	probably benign	Het
Sin3a	A	T	9: 57,011,218 (GRCm39)	N492Y	probably damaging	Het
Slc12a3	A	G	8: 95,092,572 (GRCm39)	T998A	probably damaging	Het
Slc4a1	T	C	11: 102,247,084 (GRCm39)	N501S	probably benign	Het
Sltm	G	A	9: 70,466,348 (GRCm39)	G94R	probably damaging	Het
Smc4	T	A	3: 68,934,835 (GRCm39)	W650R	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Tcf20	T	C	15: 82,740,279 (GRCm39)	N391D	probably damaging	Het
Tiam2	G	A	17: 3,498,758 (GRCm39)	V845M	probably damaging	Het
Tln2	A	G	9: 67,253,699 (GRCm39)	F793L	probably benign	Het
Uckl1	T	C	2: 181,216,037 (GRCm39)	I193V	probably damaging	Het
Ugt1a5	A	G	1: 88,094,077 (GRCm39)	M102V	probably benign	Het
Usp38	G	A	8: 81,727,750 (GRCm39)	P328S	possibly damaging	Het
Vmn1r189	A	G	13: 22,286,285 (GRCm39)	V184A	possibly damaging	Het
Vps13d	C	A	4: 144,889,914 (GRCm39)	A597S	probably benign	Het
Wdr47	T	A	3: 108,525,840 (GRCm39)	L121Q	probably damaging	Het
Wiz	A	G	17: 32,580,507 (GRCm39)	S315P	probably damaging	Het
Zc3h13	T	C	14: 75,568,597 (GRCm39)	S1297P	probably damaging	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		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
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
R9153:Irf8	UTSW	8	121,480,400 (GRCm39)	missense	probably benign
R9613:Irf8	UTSW	8	121,481,207 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGAACAGCCTTTCGGTTTTC -3'
(R):5'- AATACCTCCAGAGCCAGAGG -3'

Sequencing Primer
(F):5'- CCTTTGGGTTTAGGGCCACC -3'
(R):5'- CTCCAGAGCCAGAGGGAAAC -3'

Posted On

2019-05-13