Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00334:Irf7'

5094

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irf7

Ensembl Gene

ENSMUSG00000025498

Gene Name

interferon regulatory factor 7

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00334

Quality Score

Status

Chromosome

Chromosomal Location

141262706-141266481 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141264640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 157 (S157T)

Ref Sequence

ENSEMBL: ENSMUSP00000095565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026571] [ENSMUST00000080654] [ENSMUST00000097952] [ENSMUST00000106023] [ENSMUST00000106027] [ENSMUST00000122143] [ENSMUST00000209899] [ENSMUST00000210773] [ENSMUST00000155123] [ENSMUST00000167263]

AlphaFold

P70434

Predicted Effect

probably benign
Transcript: ENSMUST00000026571
AA Change: S157T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026571
Gene: ENSMUSG00000025498
AA Change: S157T

Domain	Start	End	E-Value	Type
IRF	5	127	1.13e-54	SMART
IRF-3	240	420	1.38e-63	SMART
low complexity region	425	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080654

SMART Domains

Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	53	125	3.78e-2	SMART
CA	152	238	2.34e-1	SMART
Blast:CA	277	355	3e-35	BLAST
Blast:CA	388	458	3e-24	BLAST
transmembrane domain	478	500	N/A	INTRINSIC
low complexity region	546	580	N/A	INTRINSIC
low complexity region	634	653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097952
AA Change: S157T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000095565
Gene: ENSMUSG00000025498
AA Change: S157T

Domain	Start	End	E-Value	Type
IRF	5	127	1.13e-54	SMART
IRF-3	209	389	1.38e-63	SMART
low complexity region	394	411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106023

SMART Domains

Protein: ENSMUSP00000101644
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	5	127	1.13e-54	SMART
IRF-3	208	388	1.38e-63	SMART
low complexity region	393	410	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106027

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
low complexity region	39	70	N/A	INTRINSIC
RING	109	149	3.78e-5	SMART
C1	173	229	7.05e-2	SMART
PHD	187	233	1.77e-14	SMART
RING	188	232	3.17e0	SMART
low complexity region	332	369	N/A	INTRINSIC
low complexity region	491	505	N/A	INTRINSIC
low complexity region	507	522	N/A	INTRINSIC
low complexity region	717	728	N/A	INTRINSIC
low complexity region	831	857	N/A	INTRINSIC
low complexity region	891	902	N/A	INTRINSIC
low complexity region	944	955	N/A	INTRINSIC
low complexity region	965	976	N/A	INTRINSIC
low complexity region	999	1020	N/A	INTRINSIC
low complexity region	1027	1043	N/A	INTRINSIC
low complexity region	1051	1090	N/A	INTRINSIC
low complexity region	1094	1151	N/A	INTRINSIC
low complexity region	1160	1173	N/A	INTRINSIC
low complexity region	1217	1241	N/A	INTRINSIC
low complexity region	1245	1261	N/A	INTRINSIC
low complexity region	1288	1306	N/A	INTRINSIC
low complexity region	1308	1319	N/A	INTRINSIC
low complexity region	1359	1376	N/A	INTRINSIC
low complexity region	1426	1441	N/A	INTRINSIC
low complexity region	1575	1592	N/A	INTRINSIC
Blast:IG_like	1593	1636	4e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000122143

SMART Domains

Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611

Domain	Start	End	E-Value	Type
C1	14	70	7.05e-2	SMART
PHD	28	74	1.77e-14	SMART
low complexity region	173	210	N/A	INTRINSIC
low complexity region	332	346	N/A	INTRINSIC
low complexity region	348	363	N/A	INTRINSIC
low complexity region	558	569	N/A	INTRINSIC
low complexity region	672	698	N/A	INTRINSIC
low complexity region	732	743	N/A	INTRINSIC
low complexity region	785	796	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
low complexity region	840	861	N/A	INTRINSIC
low complexity region	868	884	N/A	INTRINSIC
low complexity region	892	931	N/A	INTRINSIC
low complexity region	935	992	N/A	INTRINSIC
low complexity region	1001	1014	N/A	INTRINSIC
low complexity region	1058	1082	N/A	INTRINSIC
low complexity region	1086	1102	N/A	INTRINSIC
low complexity region	1129	1147	N/A	INTRINSIC
low complexity region	1149	1160	N/A	INTRINSIC
low complexity region	1200	1217	N/A	INTRINSIC
low complexity region	1267	1282	N/A	INTRINSIC
low complexity region	1416	1433	N/A	INTRINSIC
Blast:IG_like	1434	1477	4e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123525

SMART Domains

Protein: ENSMUSP00000121026
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	1	69	6.35e-3	SMART
IRF-3	77	251	2.62e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127223

Predicted Effect

probably benign
Transcript: ENSMUST00000130687

SMART Domains

Protein: ENSMUSP00000123351
Gene: ENSMUSG00000038611

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC
low complexity region	100	115	N/A	INTRINSIC
low complexity region	224	241	N/A	INTRINSIC
Blast:IG_like	242	285	5e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131399

Predicted Effect

probably benign
Transcript: ENSMUST00000142572

SMART Domains

Protein: ENSMUSP00000117393
Gene: ENSMUSG00000038611

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
low complexity region	41	52	N/A	INTRINSIC
low complexity region	75	96	N/A	INTRINSIC
low complexity region	103	119	N/A	INTRINSIC
low complexity region	127	166	N/A	INTRINSIC
low complexity region	170	227	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	293	317	N/A	INTRINSIC
low complexity region	321	337	N/A	INTRINSIC
low complexity region	364	382	N/A	INTRINSIC
low complexity region	384	395	N/A	INTRINSIC
low complexity region	435	452	N/A	INTRINSIC
low complexity region	666	683	N/A	INTRINSIC
Blast:IG_like	684	727	3e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156938

Predicted Effect

probably benign
Transcript: ENSMUST00000209899

Predicted Effect

probably benign
Transcript: ENSMUST00000210773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155744

Predicted Effect

probably benign
Transcript: ENSMUST00000155123

SMART Domains

Protein: ENSMUSP00000120759
Gene: ENSMUSG00000038611

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
low complexity region	39	70	N/A	INTRINSIC
RING	109	149	3.78e-5	SMART
Blast:C1	165	209	2e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000167263

SMART Domains

Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	53	125	3.78e-2	SMART
CA	152	238	2.34e-1	SMART
Blast:CA	277	355	3e-35	BLAST
Blast:CA	388	458	1e-24	BLAST
low complexity region	462	476	N/A	INTRINSIC
low complexity region	496	518	N/A	INTRINSIC
low complexity region	520	544	N/A	INTRINSIC
low complexity region	559	576	N/A	INTRINSIC
transmembrane domain	640	662	N/A	INTRINSIC
low complexity region	708	742	N/A	INTRINSIC
low complexity region	796	815	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are more vulnerable to viral infection and exhibit decreased serum interferon levels in response to viral infection. [provided by MGI curators]

Allele List at MGI

4 alleles

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,269,574	L620I	possibly damaging	Het
Arsb	T	G	13: 93,939,279	H423Q	probably benign	Het
Ces1f	T	C	8: 93,267,992	T264A	probably benign	Het
Clcn6	C	A	4: 148,017,902		probably null	Het
Cyb5r3	C	A	15: 83,160,404	A138S	probably benign	Het
Cyp3a57	A	T	5: 145,371,024	N197Y	probably damaging	Het
Dctn2	A	G	10: 127,277,690		probably benign	Het
Dnmt1	C	T	9: 20,910,270	A1197T	possibly damaging	Het
Dock2	T	C	11: 34,704,661	D436G	probably damaging	Het
Drd4	A	G	7: 141,292,183	N49S	probably damaging	Het
Dst	T	A	1: 34,166,292	V521D	probably damaging	Het
Eif5b	T	C	1: 38,041,719	S714P	probably damaging	Het
Elmsan1	G	A	12: 84,172,855	R442*	probably null	Het
Glis3	A	G	19: 28,540,264	I178T	probably damaging	Het
Gm11565	T	A	11: 99,915,195	C138S	possibly damaging	Het
H1foo	T	A	6: 115,947,627		probably benign	Het
Hdx	T	A	X: 111,582,881	I623F	probably benign	Het
Huwe1	T	G	X: 151,885,627	L843V	probably damaging	Het
Hyal2	T	C	9: 107,570,405	Y86H	probably damaging	Het
Jmjd4	T	A	11: 59,455,314	M331K	probably damaging	Het
Kdelc2	C	A	9: 53,398,028		probably benign	Het
Kdelc2	T	A	9: 53,398,030		probably benign	Het
Kdm2a	A	T	19: 4,356,898	D112E	possibly damaging	Het
Mamdc2	A	C	19: 23,378,774	Y103*	probably null	Het
Map2k3	T	C	11: 60,943,215	V77A	possibly damaging	Het
Mprip	T	A	11: 59,748,591	D403E	probably benign	Het
Mutyh	T	A	4: 116,819,319	V496D	possibly damaging	Het
Nbeal1	T	C	1: 60,281,883	V2051A	probably damaging	Het
Nbeal1	T	C	1: 60,328,103	L2575P	probably damaging	Het
Olfr16	T	G	1: 172,957,591	S265R	possibly damaging	Het
Olfr575	T	C	7: 102,955,104	K173E	probably benign	Het
Pcdhb6	T	A	18: 37,334,224	I66N	probably damaging	Het
Pck2	T	C	14: 55,542,641	Y89H	probably benign	Het
Polr3e	C	T	7: 120,940,811	Q594*	probably null	Het
Ptpro	T	G	6: 137,394,909		probably null	Het
Rfx4	A	G	10: 84,780,053	K28E	possibly damaging	Het
Shox2	T	C	3: 66,981,441	E39G	possibly damaging	Het
Slc22a16	A	T	10: 40,573,934	D122V	probably benign	Het
Smr3a	A	C	5: 88,008,060		probably benign	Het
Taf4	G	T	2: 179,976,625	L8M	unknown	Het
Tbkbp1	T	A	11: 97,137,648		probably benign	Het
Tepp	G	A	8: 95,313,048	R31H	probably damaging	Het
Tmem120b	G	T	5: 123,115,167	E210D	probably damaging	Het
Tmem120b	A	T	5: 123,115,166		probably null	Het
Trim21	C	T	7: 102,559,598	V305M	probably damaging	Het
Ube4a	A	T	9: 44,948,141	L353Q	probably damaging	Het
Zfyve1	A	T	12: 83,574,798	N274K	probably benign	Het

Other mutations in Irf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03275:Irf7	APN	7	141265146	missense	probably damaging	0.99
Houstonian	UTSW	7	141264022	missense	probably damaging	0.99
inept	UTSW	7	141265140	missense	probably damaging	1.00
R0593:Irf7	UTSW	7	141265062	unclassified	probably benign
R1339:Irf7	UTSW	7	141263704	missense	probably damaging	1.00
R1442:Irf7	UTSW	7	141264022	missense	probably damaging	0.99
R4354:Irf7	UTSW	7	141265270	missense	probably damaging	1.00
R4724:Irf7	UTSW	7	141264735	missense	possibly damaging	0.92
R5444:Irf7	UTSW	7	141264819	unclassified	probably benign
R5795:Irf7	UTSW	7	141265116	missense	probably damaging	1.00
R7444:Irf7	UTSW	7	141263686	missense	probably damaging	1.00
R7535:Irf7	UTSW	7	141264637	missense	probably benign	0.10
R8357:Irf7	UTSW	7	141263281	missense	possibly damaging	0.89
R8457:Irf7	UTSW	7	141263281	missense	possibly damaging	0.89
R8683:Irf7	UTSW	7	141263509	missense	probably null	1.00
R9166:Irf7	UTSW	7	141264753	missense	probably benign	0.00

Posted On

2012-04-20