Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02317:Irf9'

288059

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irf9

Ensembl Gene

ENSMUSG00000002325

Gene Name

interferon regulatory factor 9

Synonyms

p48, Isgf3g, Irf-9

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL02317

Quality Score

Status

Chromosome

Chromosomal Location

55603571-55610030 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55607739 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 352 (R352H)

Ref Sequence

ENSEMBL: ENSMUSP00000120525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000138037]

Predicted Effect

probably benign
Transcript: ENSMUST00000019443

SMART Domains

Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:PUB	68	148	7.1e-17	PFAM
low complexity region	262	294	N/A	INTRINSIC
ZnF_RBZ	298	322	2.56e-1	SMART
ZnF_RBZ	346	370	6.93e-5	SMART
ZnF_RBZ	405	429	4.86e-1	SMART
Pfam:HOIP-UBA	477	622	2.4e-54	PFAM
Blast:RING	693	741	7e-25	BLAST
IBR	773	835	3.18e-14	SMART
IBR	847	924	5.35e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126269

Predicted Effect

probably damaging
Transcript: ENSMUST00000130697
AA Change: R286H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325
AA Change: R286H

Domain	Start	End	E-Value	Type
IRF	5	117	1.19e-53	SMART
low complexity region	158	182	N/A	INTRINSIC
low complexity region	185	194	N/A	INTRINSIC
IRF-3	211	377	1.13e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133903

Predicted Effect

probably damaging
Transcript: ENSMUST00000134863
AA Change: R352H

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

SMART Domains

Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325
AA Change: R352H

Domain	Start	End	E-Value	Type
low complexity region	34	58	N/A	INTRINSIC
IRF	71	183	1.19e-53	SMART
low complexity region	224	248	N/A	INTRINSIC
low complexity region	251	260	N/A	INTRINSIC
IRF-3	277	443	1.13e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136109

Predicted Effect

probably damaging
Transcript: ENSMUST00000138037
AA Change: R304H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325
AA Change: R304H

Domain	Start	End	E-Value	Type
IRF	23	135	1.19e-53	SMART
low complexity region	176	200	N/A	INTRINSIC
low complexity region	203	212	N/A	INTRINSIC
IRF-3	229	395	1.13e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140178

SMART Domains

Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098

Domain	Start	End	E-Value	Type
PDB:4OYJ\|M	2	85	1e-29	PDB
low complexity region	164	196	N/A	INTRINSIC
ZnF_RBZ	200	224	2.56e-1	SMART
ZnF_RBZ	248	272	6.93e-5	SMART
ZnF_RBZ	307	331	4.86e-1	SMART
Pfam:HOIP-UBA	369	468	1.1e-31	PFAM
Blast:RING	539	587	9e-25	BLAST
IBR	619	681	3.18e-14	SMART
IBR	693	770	5.35e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145680

Predicted Effect

probably benign
Transcript: ENSMUST00000226275

Predicted Effect

probably benign
Transcript: ENSMUST00000227708

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an apparently normal phenotype. However, antivirus response induced by Ifn alfpha and Ifn gamma are impaired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019M22Rik	T	C	12: 96,047,006		noncoding transcript	Het
Aak1	C	T	6: 86,956,300	P418S	possibly damaging	Het
Abca5	T	A	11: 110,327,761	Q93L	probably benign	Het
Arhgap22	G	T	14: 33,359,273	V209L	probably damaging	Het
Atp6v1h	G	T	1: 5,084,470	R7L	possibly damaging	Het
Ccdc86	T	C	19: 10,943,192	Q420R	possibly damaging	Het
Cep85	C	T	4: 134,155,811	G256R	probably damaging	Het
Csmd2	T	C	4: 128,463,727		probably benign	Het
Dck	T	C	5: 88,774,083	Y135H	probably damaging	Het
Dicer1	T	C	12: 104,697,020	E1434G	probably damaging	Het
Dst	C	T	1: 34,295,163	T4824I	probably damaging	Het
Fam20c	G	A	5: 138,806,360	R404H	probably damaging	Het
Fat1	G	A	8: 45,025,818	A2611T	probably benign	Het
Fbxl13	C	T	5: 21,522,234	C555Y	probably benign	Het
Gm8298	A	G	3: 59,876,987	N294D	probably benign	Het
Gprc6a	C	A	10: 51,620,953	R323L	probably benign	Het
Grik2	A	G	10: 49,422,615	F50L	probably benign	Het
Ibsp	A	G	5: 104,302,466	Y50C	probably damaging	Het
Il16	T	A	7: 83,666,889	H437L	probably damaging	Het
Jph1	T	C	1: 17,003,923	T624A	probably benign	Het
Lama5	T	C	2: 180,191,319	Y1574C	probably damaging	Het
Lrrc26	A	G	2: 25,290,302	N105S	probably damaging	Het
Megf8	C	A	7: 25,363,788	T2523K	probably damaging	Het
Nckap1l	A	G	15: 103,461,578	I135V	probably benign	Het
Olfr1033	T	C	2: 86,041,569	S85P	probably damaging	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr71	T	C	4: 43,706,172	Y132C	probably damaging	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Oma1	A	G	4: 103,319,037		probably benign	Het
Opa1	T	G	16: 29,615,166		probably null	Het
Rab11b	C	T	17: 33,749,816	A43T	probably damaging	Het
Rabl2	A	T	15: 89,584,289	N133K	probably damaging	Het
Scn10a	C	T	9: 119,638,555	V840I	probably benign	Het
Spata31d1b	T	C	13: 59,718,040	S1001P	probably damaging	Het
Tbc1d8	T	C	1: 39,376,904	E896G	probably benign	Het
Ube2o	T	C	11: 116,541,563	E859G	probably damaging	Het
Vmn1r197	A	G	13: 22,327,903		probably benign	Het
Vmn2r58	A	G	7: 41,837,341	I710T	possibly damaging	Het
Zmynd8	T	C	2: 165,820,572	T533A	possibly damaging	Het

Other mutations in Irf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Irf9	APN	14	55607601	missense	probably damaging	0.98
IGL02283:Irf9	APN	14	55607739	missense	probably damaging	1.00
IGL02407:Irf9	APN	14	55605221	missense	possibly damaging	0.92
Long_lost	UTSW	14	55605910	splice site	probably null
R0233:Irf9	UTSW	14	55606094	missense	probably benign	0.00
R0233:Irf9	UTSW	14	55606094	missense	probably benign	0.00
R1959:Irf9	UTSW	14	55607717	missense	possibly damaging	0.93
R2324:Irf9	UTSW	14	55605910	splice site	probably null
R4669:Irf9	UTSW	14	55605766	missense	probably benign
R4882:Irf9	UTSW	14	55609039	utr 3 prime	probably benign
R5393:Irf9	UTSW	14	55606457	unclassified	probably benign
R6072:Irf9	UTSW	14	55605827	missense	probably damaging	1.00
R6277:Irf9	UTSW	14	55607652	missense	probably benign	0.04
R6337:Irf9	UTSW	14	55606342	missense	possibly damaging	0.62
R6545:Irf9	UTSW	14	55605227	missense	probably damaging	1.00
R6993:Irf9	UTSW	14	55608957	missense	probably benign	0.06
R7956:Irf9	UTSW	14	55609024	missense	probably benign	0.00
R8145:Irf9	UTSW	14	55605798	nonsense	probably null
R8326:Irf9	UTSW	14	55605753	missense	probably benign	0.02
RF014:Irf9	UTSW	14	55605877	nonsense	probably null

Posted On

2015-04-16