Mutagenetix > Incidental Mutation

Incidental Mutation 'R0099:Irf5'

33149

Institutional Source

Beutler Lab

Gene Symbol

Irf5

Ensembl Gene

ENSMUSG00000029771

Gene Name

interferon regulatory factor 5

Synonyms

mirf5

MMRRC Submission

038385-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0099 (G1)

Quality Score

210

Status

Validated (trace)

Chromosome

Chromosomal Location

29526624-29541870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29533966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 34 (T34A)

Ref Sequence

ENSEMBL: ENSMUSP00000145299 (fasta)

Gene Model

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

AlphaFold

P56477

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004392
AA Change: T71A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: T71A

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: T71A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: T71A

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: T71A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130548
Gene: ENSMUSG00000029771
AA Change: T71A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164922
AA Change: T34A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145299
Gene: ENSMUSG00000029771
AA Change: T34A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167252
AA Change: T71A

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: T71A

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

Meta Mutation Damage Score

0.4075

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (65/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018M24Rik	C	T	14: 51,134,179 (GRCm39)		probably benign	Het
Aadacl2fm1	A	C	3: 59,843,856 (GRCm39)	K183N	probably benign	Het
Acad10	A	C	5: 121,759,353 (GRCm39)	D1043E	probably damaging	Het
Adamtsl4	C	T	3: 95,591,449 (GRCm39)	G173R	probably benign	Het
Astn1	G	T	1: 158,329,721 (GRCm39)	S192I	probably damaging	Het
Atg2a	T	A	19: 6,302,819 (GRCm39)	V1010E	probably damaging	Het
Col11a2	A	G	17: 34,268,648 (GRCm39)	E311G	probably damaging	Het
Col4a3	A	C	1: 82,695,714 (GRCm39)	E1638A	probably benign	Het
Cstf2t	A	G	19: 31,061,231 (GRCm39)	R256G	probably benign	Het
Cyp4a12a	T	C	4: 115,183,869 (GRCm39)	L225P	probably damaging	Het
Dnah5	G	A	15: 28,240,080 (GRCm39)	R479H	probably damaging	Het
Dsg3	A	G	18: 20,673,079 (GRCm39)	I917V	probably benign	Het
Fam76a	G	T	4: 132,638,098 (GRCm39)		probably benign	Het
Fras1	T	A	5: 96,762,776 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,171,875 (GRCm39)	V293A	probably damaging	Het
Gm10782	T	A	13: 56,510,956 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,509,158 (GRCm39)	E490G	probably damaging	Het
Hydin	G	A	8: 111,316,193 (GRCm39)	G4362R	probably damaging	Het
Ica1	A	T	6: 8,749,778 (GRCm39)		probably benign	Het
Ikzf4	T	A	10: 128,470,066 (GRCm39)	I485F	probably damaging	Het
Krt81	A	T	15: 101,361,402 (GRCm39)	C59*	probably null	Het
Kynu	T	A	2: 43,519,065 (GRCm39)		probably null	Het
Ly6g6c	T	C	17: 35,287,891 (GRCm39)	V61A	probably damaging	Het
Manea	A	C	4: 26,328,104 (GRCm39)	I312M	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Mthfs	A	T	9: 89,108,216 (GRCm39)		probably benign	Het
Myh4	A	G	11: 67,150,173 (GRCm39)	T1877A	probably benign	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nepn	A	G	10: 52,277,181 (GRCm39)	S306G	probably damaging	Het
Nol8	T	C	13: 49,826,165 (GRCm39)	V995A	probably benign	Het
Or5b101	A	G	19: 13,005,165 (GRCm39)	F176S	probably damaging	Het
Or5b105	T	A	19: 13,080,504 (GRCm39)	T49S	probably benign	Het
Or8a1b	A	T	9: 37,622,750 (GRCm39)	V275E	probably damaging	Het
Or8g4	A	G	9: 39,661,957 (GRCm39)	I92V	possibly damaging	Het
Pde1a	T	A	2: 79,698,657 (GRCm39)		probably null	Het
Phf14	A	G	6: 11,987,696 (GRCm39)		probably benign	Het
Plekhh2	C	T	17: 84,899,100 (GRCm39)	Q1026*	probably null	Het
Polr2b	T	A	5: 77,468,797 (GRCm39)		probably benign	Het
Ppp1r36	G	T	12: 76,483,056 (GRCm39)		probably null	Het
Prdm14	A	T	1: 13,189,169 (GRCm39)	C392S	probably damaging	Het
Rabgap1l	A	G	1: 160,509,686 (GRCm39)	S436P	possibly damaging	Het
Rfc2	A	T	5: 134,624,135 (GRCm39)		probably null	Het
Rfx4	A	T	10: 84,730,168 (GRCm39)	M437L	probably benign	Het
Rgs17	T	A	10: 5,792,583 (GRCm39)	R74S	probably benign	Het
Rnf139	C	A	15: 58,771,264 (GRCm39)	L430I	probably damaging	Het
Sgsm1	C	A	5: 113,422,226 (GRCm39)		probably benign	Het
Skint6	T	A	4: 112,668,698 (GRCm39)	T1126S	possibly damaging	Het
Slc15a2	T	C	16: 36,573,398 (GRCm39)	E602G	probably damaging	Het
Stpg2	T	C	3: 138,948,954 (GRCm39)		probably benign	Het
Sycp2l	T	C	13: 41,283,001 (GRCm39)		probably benign	Het
Tlr11	A	T	14: 50,598,275 (GRCm39)	N87I	probably benign	Het
Tril	A	G	6: 53,795,348 (GRCm39)	F625L	probably damaging	Het
Ube3c	T	A	5: 29,812,062 (GRCm39)	V434E	probably damaging	Het
Usp34	G	A	11: 23,313,111 (GRCm39)	G533R	probably damaging	Het
Utp25	A	G	1: 192,810,778 (GRCm39)	L75P	probably damaging	Het
Zfp93	G	T	7: 23,974,900 (GRCm39)	R295L	probably benign	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
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
R9351:Irf5	UTSW	6	29,531,317 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CACCTAATGAGCCTGTCTGGCAAG -3'
(R):5'- GTAATGAAGAAGCACCTGGAGCCC -3'

Sequencing Primer
(F):5'- TCTGGCAAGGCTTAGCCTG -3'
(R):5'- GTACCCAGAGTTCATAGCTTTCAGG -3'

Posted On

2013-05-09