Mutagenetix > Incidental Mutation

Incidental Mutation 'R7274:Irf5'

565445

Institutional Source

Beutler Lab

Gene Symbol

Irf5

Ensembl Gene

ENSMUSG00000029771

Gene Name

interferon regulatory factor 5

Synonyms

mirf5

MMRRC Submission

067851-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29526624-29541870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29534039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 95 (N95S)

Ref Sequence

ENSEMBL: ENSMUSP00000004392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004392] [ENSMUST00000163511] [ENSMUST00000164626] [ENSMUST00000164922] [ENSMUST00000167252]

AlphaFold

P56477

Predicted Effect

probably damaging
Transcript: ENSMUST00000004392
AA Change: N95S

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

SMART Domains

Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: N95S

Domain	Start	End	E-Value	Type
IRF	10	123	6.39e-63	SMART
low complexity region	181	203	N/A	INTRINSIC
IRF-3	246	430	1.67e-89	SMART
low complexity region	465	478	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163511
AA Change: N95S

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

SMART Domains

Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: N95S

Domain	Start	End	E-Value	Type
IRF	10	123	6.39e-63	SMART
low complexity region	181	203	N/A	INTRINSIC
IRF-3	246	430	1.67e-89	SMART
low complexity region	465	478	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164626

SMART Domains

Protein: ENSMUSP00000130548
Gene: ENSMUSG00000029771

Domain	Start	End	E-Value	Type
IRF	10	80	9.78e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164922
AA Change: N58S

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

SMART Domains

Protein: ENSMUSP00000145299
Gene: ENSMUSG00000029771
AA Change: N58S

Domain	Start	End	E-Value	Type
IRF	1	86	7.7e-32	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167252
AA Change: N95S

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

SMART Domains

Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: N95S

Domain	Start	End	E-Value	Type
IRF	10	123	2.8e-65	SMART
low complexity region	181	203	N/A	INTRINSIC
IRF-3	246	430	1.3e-93	SMART

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null mice exhibit resistance to lethal shock with a marked decrease in the serum levels of proinflammatory cytokines, but normal B cell development. Mice homozygous for another allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	T	C	8: 121,338,005 (GRCm39)	S69G	possibly damaging	Het
Alg12	G	A	15: 88,690,910 (GRCm39)	S337F	probably damaging	Het
Bcl11a	T	C	11: 24,113,985 (GRCm39)	S443P	probably damaging	Het
C1qtnf4	T	C	2: 90,719,885 (GRCm39)	Y53H	probably damaging	Het
Cacna1d	T	A	14: 29,864,600 (GRCm39)	E454V	probably damaging	Het
Cacna1h	A	G	17: 25,597,811 (GRCm39)	F1761S	probably damaging	Het
Cacna1i	A	T	15: 80,261,023 (GRCm39)	I1344F	possibly damaging	Het
Cat	T	C	2: 103,307,235 (GRCm39)	N33D	probably benign	Het
Cdh17	C	T	4: 11,783,174 (GRCm39)	Q172*	probably null	Het
Chrna2	A	G	14: 66,386,675 (GRCm39)	I274V	probably benign	Het
Cog2	T	G	8: 125,262,258 (GRCm39)	S299A	possibly damaging	Het
Cpa6	C	A	1: 10,479,524 (GRCm39)	M236I	probably damaging	Het
Crym	T	A	7: 119,789,742 (GRCm39)	Q242L	probably benign	Het
Ddx60	T	C	8: 62,393,142 (GRCm39)		probably null	Het
Eif4a3l1	A	G	6: 136,306,396 (GRCm39)	T286A	possibly damaging	Het
Epdr1	A	T	13: 19,777,458 (GRCm39)	I180N	possibly damaging	Het
Fancd2os	G	A	6: 113,574,851 (GRCm39)	L52F	probably benign	Het
Fbxo16	C	A	14: 65,558,716 (GRCm39)	R292S	probably benign	Het
Fn1	T	C	1: 71,667,272 (GRCm39)	Q820R	probably benign	Het
Gm4131	T	A	14: 62,704,301 (GRCm39)	Y140F	possibly damaging	Het
Grin2a	T	C	16: 9,396,986 (GRCm39)	R1034G	possibly damaging	Het
Hypk	A	G	2: 121,284,805 (GRCm39)		probably benign	Het
Ighmbp2	A	G	19: 3,314,951 (GRCm39)	V823A	probably benign	Het
Kdr	A	T	5: 76,125,360 (GRCm39)	M379K	probably benign	Het
Kif19a	G	T	11: 114,656,281 (GRCm39)		probably benign	Het
Klhdc4	T	C	8: 122,526,397 (GRCm39)		probably null	Het
Lama2	A	T	10: 26,995,976 (GRCm39)	I1717N	probably damaging	Het
Lama4	A	T	10: 38,968,295 (GRCm39)	Q1479L	probably benign	Het
Lgr5	T	A	10: 115,288,410 (GRCm39)	T745S	probably damaging	Het
Lifr	T	A	15: 7,196,540 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,596,812 (GRCm39)	R138C	possibly damaging	Het
Mccc1	A	T	3: 36,044,005 (GRCm39)	V246E	probably damaging	Het
Mdn1	T	A	4: 32,725,944 (GRCm39)	L2621H	probably benign	Het
Mecr	C	A	4: 131,581,089 (GRCm39)	A80D	probably damaging	Het
Mia2	A	G	12: 59,154,905 (GRCm39)	E206G	probably damaging	Het
Nubpl	A	G	12: 52,179,203 (GRCm39)		probably benign	Het
Obscn	C	T	11: 59,024,053 (GRCm39)	R539H	probably damaging	Het
Or4n4b	T	A	14: 50,535,879 (GRCm39)	T296S	probably benign	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pde5a	A	T	3: 122,648,895 (GRCm39)	K838*	probably null	Het
Pgm3	A	G	9: 86,444,650 (GRCm39)	L295P	probably damaging	Het
Pkp2	T	C	16: 16,064,793 (GRCm39)	L439P	possibly damaging	Het
Polr1a	T	A	6: 71,897,500 (GRCm39)	C205*	probably null	Het
Rab3gap1	T	A	1: 127,855,249 (GRCm39)	I429K	probably benign	Het
Rassf8	T	C	6: 145,761,295 (GRCm39)	V207A	probably benign	Het
Sacs	T	A	14: 61,451,530 (GRCm39)	D4525E	possibly damaging	Het
Sec24a	A	T	11: 51,598,082 (GRCm39)	L864Q	probably damaging	Het
Spats2l	C	A	1: 57,918,672 (GRCm39)	Y35*	probably null	Het
Sptlc2	A	T	12: 87,388,380 (GRCm39)	D367E	probably benign	Het
Ssc4d	T	C	5: 135,996,810 (GRCm39)	D97G	possibly damaging	Het
Tjp1	A	G	7: 65,177,400 (GRCm39)	Y3H	possibly damaging	Het
Tkt	T	A	14: 30,291,102 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,133 (GRCm39)	N372I	possibly damaging	Het
Trpm2	T	C	10: 77,759,389 (GRCm39)	N1132D	probably benign	Het
Tsc22d1	T	C	14: 76,654,154 (GRCm39)	I211T	probably damaging	Het
Ttc39b	T	C	4: 83,180,088 (GRCm39)	K132E	possibly damaging	Het
Ttn	C	T	2: 76,553,932 (GRCm39)	V30924I	probably damaging	Het
Tubgcp6	G	A	15: 88,987,173 (GRCm39)	Q1267*	probably null	Het
Zfp30	C	A	7: 29,492,043 (GRCm39)	T180N	probably benign	Het
Zp2	A	G	7: 119,731,614 (GRCm39)	*714R	probably null	Het

Other mutations in Irf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Irf5	APN	6	29,536,102 (GRCm39)	missense	probably damaging	1.00
IGL02405:Irf5	APN	6	29,535,760 (GRCm39)	missense	probably damaging	0.99
IGL02953:Irf5	APN	6	29,536,671 (GRCm39)	missense	possibly damaging	0.76
R0099:Irf5	UTSW	6	29,533,966 (GRCm39)	missense	probably damaging	0.98
R0116:Irf5	UTSW	6	29,536,108 (GRCm39)	missense	probably damaging	1.00
R0482:Irf5	UTSW	6	29,535,369 (GRCm39)	missense	probably benign	0.00
R1827:Irf5	UTSW	6	29,536,672 (GRCm39)	missense	possibly damaging	0.67
R1938:Irf5	UTSW	6	29,536,738 (GRCm39)	missense	probably benign	0.05
R3969:Irf5	UTSW	6	29,536,781 (GRCm39)	missense	probably benign	0.00
R4408:Irf5	UTSW	6	29,534,000 (GRCm39)	splice site	probably null
R4447:Irf5	UTSW	6	29,535,941 (GRCm39)	missense	probably damaging	1.00
R4828:Irf5	UTSW	6	29,531,140 (GRCm39)	missense	probably damaging	0.99
R5555:Irf5	UTSW	6	29,531,145 (GRCm39)	missense	probably benign	0.00
R5891:Irf5	UTSW	6	29,529,424 (GRCm39)	intron	probably benign
R6148:Irf5	UTSW	6	29,535,958 (GRCm39)	missense	probably damaging	1.00
R7084:Irf5	UTSW	6	29,535,876 (GRCm39)	missense	probably damaging	0.98
R7832:Irf5	UTSW	6	29,535,461 (GRCm39)	missense	probably benign
R8790:Irf5	UTSW	6	29,535,026 (GRCm39)	splice site	probably benign
R8852:Irf5	UTSW	6	29,535,997 (GRCm39)	missense	probably damaging	1.00
R9351:Irf5	UTSW	6	29,531,317 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGCATTGACTCCTATAGGACAAG -3'
(R):5'- TGCGATCATGACCTAGCACAG -3'

Sequencing Primer
(F):5'- CTCCTATAGGACAAGAGAGTTGC -3'
(R):5'- TGACCTAGCACAGCCCCTG -3'

Posted On

2019-06-26