Mutagenetix > Incidental Mutation

Incidental Mutation 'R5444:Irf7'

427344

Institutional Source

Beutler Lab

Gene Symbol

Irf7

Ensembl Gene

ENSMUSG00000025498

Gene Name

interferon regulatory factor 7

Synonyms

MMRRC Submission

043009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140843096-140846412 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 140844732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147472 (fasta)

Gene Model

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

AlphaFold

P70434

Predicted Effect

probably benign
Transcript: ENSMUST00000026571

SMART Domains

Protein: ENSMUSP00000026571
Gene: ENSMUSG00000025498

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

SMART Domains

Protein: ENSMUSP00000095565
Gene: ENSMUSG00000025498

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: ENSMUST00000156938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155744

Predicted Effect

probably benign
Transcript: ENSMUST00000209899

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

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210773

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	G	5: 26,684,735 (GRCm39)		noncoding transcript	Het
Adam11	A	G	11: 102,663,674 (GRCm39)	Q284R	probably damaging	Het
Adamts17	T	A	7: 66,691,647 (GRCm39)	H610Q	probably benign	Het
Alg6	A	G	4: 99,629,816 (GRCm39)	Y131C	probably benign	Het
Apol9b	T	C	15: 77,619,963 (GRCm39)	I253T	probably damaging	Het
Asb4	T	A	6: 5,431,040 (GRCm39)	I425N	probably damaging	Het
Atic	T	C	1: 71,615,876 (GRCm39)	L474P	probably damaging	Het
B3glct	C	T	5: 149,669,985 (GRCm39)	T318I	probably damaging	Het
Bbs7	T	C	3: 36,666,199 (GRCm39)	K22E	possibly damaging	Het
Cdk17	T	G	10: 93,053,823 (GRCm39)		probably null	Het
Cemip	T	A	7: 83,631,499 (GRCm39)	T438S	probably damaging	Het
Chd2	T	C	7: 73,122,833 (GRCm39)	E967G	probably damaging	Het
Cyp2d26	G	T	15: 82,676,739 (GRCm39)	D202E	probably benign	Het
Dhdds	G	A	4: 133,698,447 (GRCm39)	R295*	probably null	Het
Eef2kmt	G	A	16: 5,066,959 (GRCm39)		probably benign	Het
Fn3krp	G	A	11: 121,312,430 (GRCm39)		probably null	Het
Gjc3	G	A	5: 137,955,809 (GRCm39)	L159F	probably damaging	Het
Gm28434	T	C	5: 88,127,147 (GRCm39)		probably benign	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Itgb8	T	C	12: 119,201,573 (GRCm39)		probably benign	Het
Kcnb2	A	T	1: 15,781,716 (GRCm39)	I863F	probably benign	Het
Lamb1	T	C	12: 31,348,908 (GRCm39)	F647L	possibly damaging	Het
Mccc1	T	A	3: 36,030,891 (GRCm39)	M392L	probably benign	Het
Mtmr10	T	C	7: 63,938,149 (GRCm39)		probably null	Het
Ncstn	A	C	1: 171,900,406 (GRCm39)	V223G	possibly damaging	Het
Neurl3	G	T	1: 36,308,571 (GRCm39)	F80L	probably damaging	Het
Nf1	T	C	11: 79,334,785 (GRCm39)	M869T	possibly damaging	Het
Nfatc2	A	G	2: 168,376,810 (GRCm39)		probably benign	Het
Nnat	T	C	2: 157,403,137 (GRCm39)	F26S	possibly damaging	Het
Nos1ap	T	C	1: 170,202,820 (GRCm39)	Y109C	probably damaging	Het
Nup205	T	A	6: 35,166,124 (GRCm39)	D194E	probably damaging	Het
Or10ak11	T	A	4: 118,687,308 (GRCm39)	I109L	probably benign	Het
Or3a4	T	C	11: 73,944,803 (GRCm39)	S261G	probably benign	Het
Or52k2	C	T	7: 102,254,076 (GRCm39)	R172*	probably null	Het
Or5b109	A	T	19: 13,212,322 (GRCm39)	Q236L	probably benign	Het
Or9g3	A	T	2: 85,590,263 (GRCm39)	F152L	probably benign	Het
Ostf1	A	G	19: 18,558,677 (GRCm39)	L202S	probably benign	Het
Pdzrn4	T	A	15: 92,668,806 (GRCm39)	M747K	probably damaging	Het
Plxnb1	A	G	9: 108,935,521 (GRCm39)	D1019G	probably benign	Het
Pnlip	A	G	19: 58,661,595 (GRCm39)	I95V	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,805,122 (GRCm39)	T197S	probably benign	Het
Rasgrp3	A	T	17: 75,810,370 (GRCm39)	I357F	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Relch	C	T	1: 105,654,109 (GRCm39)	T826I	possibly damaging	Het
Rgs22	T	C	15: 36,015,773 (GRCm39)	D1037G	possibly damaging	Het
Rnf215	A	G	11: 4,085,843 (GRCm39)	I107M	probably benign	Het
Rybp	A	T	6: 100,264,231 (GRCm39)	M3K	probably damaging	Het
Sgo2b	T	C	8: 64,379,590 (GRCm39)	S1081G	possibly damaging	Het
Slfn10-ps	C	T	11: 82,926,113 (GRCm39)		noncoding transcript	Het
Spag17	T	C	3: 99,963,468 (GRCm39)	V1062A	probably benign	Het
Sult2a1	A	T	7: 13,569,944 (GRCm39)	I96K	possibly damaging	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Thbs3	T	C	3: 89,130,692 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,066 (GRCm39)	L255S	possibly damaging	Het
Trank1	T	A	9: 111,222,026 (GRCm39)	L2921Q	probably benign	Het
Trappc14	A	T	5: 138,259,260 (GRCm39)		probably null	Het
Tuba8	A	T	6: 121,203,060 (GRCm39)		probably benign	Het
Vmn2r25	T	C	6: 123,805,451 (GRCm39)	I469V	probably benign	Het
Zfp1007	A	T	5: 109,823,502 (GRCm39)	Y649*	probably null	Het

Other mutations in Irf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Irf7	APN	7	140,844,553 (GRCm39)	missense	probably benign	0.02
IGL03275:Irf7	APN	7	140,845,059 (GRCm39)	missense	probably damaging	0.99
Houstonian	UTSW	7	140,843,935 (GRCm39)	missense	probably damaging	0.99
inept	UTSW	7	140,845,053 (GRCm39)	missense	probably damaging	1.00
R0593:Irf7	UTSW	7	140,844,975 (GRCm39)	unclassified	probably benign
R1339:Irf7	UTSW	7	140,843,617 (GRCm39)	missense	probably damaging	1.00
R1442:Irf7	UTSW	7	140,843,935 (GRCm39)	missense	probably damaging	0.99
R4354:Irf7	UTSW	7	140,845,183 (GRCm39)	missense	probably damaging	1.00
R4724:Irf7	UTSW	7	140,844,648 (GRCm39)	missense	possibly damaging	0.92
R5795:Irf7	UTSW	7	140,845,029 (GRCm39)	missense	probably damaging	1.00
R7444:Irf7	UTSW	7	140,843,599 (GRCm39)	missense	probably damaging	1.00
R7535:Irf7	UTSW	7	140,844,550 (GRCm39)	missense	probably benign	0.10
R8357:Irf7	UTSW	7	140,843,194 (GRCm39)	missense	possibly damaging	0.89
R8457:Irf7	UTSW	7	140,843,194 (GRCm39)	missense	possibly damaging	0.89
R8683:Irf7	UTSW	7	140,843,422 (GRCm39)	missense	probably null	1.00
R9166:Irf7	UTSW	7	140,844,666 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAATGATCCTGGGGACACAC -3'
(R):5'- ACATGGCCTCTGTCATTTTGG -3'

Sequencing Primer
(F):5'- TGGACCAGATGTACCTGT -3'
(R):5'- CCTCTGTCATTTTGGTGGTTTCAATG -3'

Posted On

2016-09-01