Mutagenetix > Incidental Mutation

Incidental Mutation 'R9351:Irf5'

708059

Institutional Source

Beutler Lab

Gene Symbol

Irf5

Ensembl Gene

ENSMUSG00000029771

Gene Name

interferon regulatory factor 5

Synonyms

mirf5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29526624-29541870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29531317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 61 (N61I)

Ref Sequence

ENSEMBL: ENSMUSP00000004392 (fasta)

Gene Model

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

AlphaFold

P56477

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004392
AA Change: N61I

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: N61I

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

possibly damaging
Transcript: ENSMUST00000163511
AA Change: N61I

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: N61I

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

possibly damaging
Transcript: ENSMUST00000164626
AA Change: N61I

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130548
Gene: ENSMUSG00000029771
AA Change: N61I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164922
AA Change: N24I

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145299
Gene: ENSMUSG00000029771
AA Change: N24I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167252
AA Change: N61I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: N61I

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: 98.8%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,068 (GRCm39)	T84A	probably benign	Het
Abca17	G	A	17: 24,510,751 (GRCm39)	S909L	probably benign	Het
Adamtsl3	A	T	7: 82,169,929 (GRCm39)	Y371F	possibly damaging	Het
Adcy9	A	T	16: 4,236,228 (GRCm39)	S394R	probably damaging	Het
Ahcyl1	T	C	3: 107,575,011 (GRCm39)	N444S	probably damaging	Het
Ahnak	A	C	19: 8,985,232 (GRCm39)	D2172A	probably damaging	Het
Arhgef28	C	T	13: 98,130,576 (GRCm39)	D421N	probably benign	Het
Brd1	T	A	15: 88,614,307 (GRCm39)	E196V	possibly damaging	Het
Cabs1	A	G	5: 88,128,300 (GRCm39)	D317G	probably damaging	Het
Ccdc96	T	C	5: 36,642,069 (GRCm39)	I25T	unknown	Het
Clgn	A	G	8: 84,153,218 (GRCm39)	R607G	possibly damaging	Het
Clp1	T	C	2: 84,554,195 (GRCm39)	K325E	probably benign	Het
Dcun1d1	A	T	3: 35,975,185 (GRCm39)	I52K	probably benign	Het
Dync2h1	G	A	9: 7,176,911 (GRCm39)	T16I	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,771 (GRCm39)	I411F	probably benign	Het
Epb41l5	A	G	1: 119,477,639 (GRCm39)	F711L	probably benign	Het
Esr1	G	A	10: 4,696,763 (GRCm39)	W204*	probably null	Het
Fat2	A	G	11: 55,172,127 (GRCm39)	L2862P	probably damaging	Het
Frmd3	A	G	4: 74,054,068 (GRCm39)	E159G	probably damaging	Het
Gsto2	T	A	19: 47,874,608 (GRCm39)	C243S	possibly damaging	Het
Heg1	A	G	16: 33,545,867 (GRCm39)	H206R	probably benign	Het
Ifi203	A	G	1: 173,750,133 (GRCm39)	V862A	probably benign	Het
Ippk	C	T	13: 49,615,107 (GRCm39)	H497Y	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kcnj12	C	T	11: 60,960,673 (GRCm39)	H324Y	probably damaging	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Lars2	A	G	9: 123,265,366 (GRCm39)	Q474R	probably benign	Het
Lctl	T	C	9: 64,040,473 (GRCm39)	F472S	possibly damaging	Het
Map4k2	T	C	19: 6,401,223 (GRCm39)	S590P	probably benign	Het
Mcf2l	G	T	8: 13,050,757 (GRCm39)	L337F	possibly damaging	Het
Mvp	A	G	7: 126,595,435 (GRCm39)	V225A	probably damaging	Het
Nfat5	T	A	8: 108,065,910 (GRCm39)	D241E	probably damaging	Het
Or6n2	T	A	1: 173,897,021 (GRCm39)	D52E	probably benign	Het
Pagr1a	A	T	7: 126,616,073 (GRCm39)	H7Q	probably damaging	Het
Parp8	G	T	13: 117,000,781 (GRCm39)	Q787K	probably damaging	Het
Pcdhb2	C	A	18: 37,429,369 (GRCm39)	N90K	probably damaging	Het
Pde6h	A	G	6: 136,936,332 (GRCm39)	K25R	probably benign	Het
Prr35	G	A	17: 26,166,118 (GRCm39)	Q390*	probably null	Het
Psd3	C	A	8: 68,413,301 (GRCm39)	A410S	probably benign	Het
Pus10	A	G	11: 23,617,311 (GRCm39)	N8S	probably benign	Het
Rnf115	T	C	3: 96,695,994 (GRCm39)	L260S	probably damaging	Het
Sdsl	A	T	5: 120,601,159 (GRCm39)	Y38N	probably benign	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Stxbp5l	A	G	16: 36,936,047 (GRCm39)	Y1177H	probably damaging	Het
Taar2	G	A	10: 23,816,900 (GRCm39)	V147I	probably benign	Het
Tmed3	A	T	9: 89,584,980 (GRCm39)	F92I	possibly damaging	Het
Tmprss15	T	C	16: 78,832,086 (GRCm39)	T357A	probably damaging	Het
Trbv14	A	T	6: 41,112,428 (GRCm39)	D75V	probably damaging	Het
Vmn1r30	A	G	6: 58,412,262 (GRCm39)	V190A	probably benign	Het
Vmn2r115	A	T	17: 23,578,482 (GRCm39)	I652F	probably benign	Het
Vmn2r26	A	T	6: 124,016,333 (GRCm39)	M266L	probably benign	Het
Wdr17	T	C	8: 55,143,057 (GRCm39)	I198V	probably benign	Het
Wdr27	G	A	17: 15,128,833 (GRCm39)	A540V	possibly damaging	Het
Zfp26	A	C	9: 20,349,447 (GRCm39)	Y372*	probably null	Het
Zfp286	A	G	11: 62,670,801 (GRCm39)	V424A	probably damaging	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
R7274:Irf5	UTSW	6	29,534,039 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TTTGCCATGAACCACTCAGC -3'
(R):5'- TACACGGAGTTACAGGCTGG -3'

Sequencing Primer
(F):5'- ACTCAGCCCCAGGGATTC -3'
(R):5'- ACCTTGCTCTAGGCTACAGGTTAG -3'

Posted On

2022-04-18