Mutagenetix > Incidental Mutation

Incidental Mutation 'R6148:Irf5'

489014

Institutional Source

Beutler Lab

Gene Symbol

Irf5

Ensembl Gene

ENSMUSG00000029771

Gene Name

interferon regulatory factor 5

Synonyms

mirf5

MMRRC Submission

044295-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6148 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

29526624-29541870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29535958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 324 (L324P)

Ref Sequence

ENSEMBL: ENSMUSP00000126273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004392] [ENSMUST00000012679] [ENSMUST00000115251] [ENSMUST00000163511] [ENSMUST00000164626] [ENSMUST00000164922] [ENSMUST00000167252]

AlphaFold

P56477

Predicted Effect

probably damaging
Transcript: ENSMUST00000004392
AA Change: L324P

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

SMART Domains

Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: L324P

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: ENSMUST00000012679

SMART Domains

Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535

Domain	Start	End	E-Value	Type
Blast:IBN_N	30	96	6e-35	BLAST
Pfam:Xpo1	101	249	3.5e-30	PFAM
low complexity region	318	328	N/A	INTRINSIC
low complexity region	823	838	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115251

SMART Domains

Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535

Domain	Start	End	E-Value	Type
Blast:IBN_N	30	96	6e-35	BLAST
Pfam:Xpo1	101	249	3e-30	PFAM
low complexity region	318	328	N/A	INTRINSIC
low complexity region	829	844	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163511
AA Change: L324P

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

SMART Domains

Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: L324P

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 benign
Transcript: ENSMUST00000164922

SMART Domains

Protein: ENSMUSP00000145299
Gene: ENSMUSG00000029771

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167252
AA Change: L324P

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

SMART Domains

Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: L324P

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

0.9466

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

95% (61/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,234,200 (GRCm39)	C1067S	possibly damaging	Het
AAdacl4fm3	T	C	4: 144,447,887 (GRCm39)	T30A	possibly damaging	Het
Agbl3	T	A	6: 34,834,688 (GRCm39)	S952R	possibly damaging	Het
Ano9	A	G	7: 140,686,698 (GRCm39)	Y429H	probably damaging	Het
Bbs7	C	A	3: 36,667,415 (GRCm39)	R7L	probably damaging	Het
Birc2	T	A	9: 7,849,684 (GRCm39)	D535V	possibly damaging	Het
Catsper4	A	G	4: 133,945,240 (GRCm39)	V206A	probably damaging	Het
Ccdc73	T	G	2: 104,822,482 (GRCm39)	S810R	possibly damaging	Het
Cd177	A	T	7: 24,443,698 (GRCm39)	L800*	probably null	Het
Cd34	T	C	1: 194,630,316 (GRCm39)		probably null	Het
Cep78	G	A	19: 15,959,150 (GRCm39)	R95*	probably null	Het
Cfap69	T	C	5: 5,713,996 (GRCm39)	D12G	probably benign	Het
Cpne7	A	G	8: 123,854,171 (GRCm39)	D286G	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cxcl5	A	T	5: 90,907,565 (GRCm39)	I46L	probably benign	Het
Cyp19a1	C	T	9: 54,087,540 (GRCm39)	G59D	probably damaging	Het
Dclre1c	A	G	2: 3,438,742 (GRCm39)	D35G	probably damaging	Het
Defa41	A	G	8: 21,692,428 (GRCm39)	N83S	probably benign	Het
Dvl1	A	G	4: 155,939,409 (GRCm39)	Y279C	probably damaging	Het
Fes	A	G	7: 80,030,044 (GRCm39)	L578P	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fmn2	T	C	1: 174,494,229 (GRCm39)	S1248P	probably damaging	Het
Fmo1	T	G	1: 162,679,088 (GRCm39)	S53R	probably damaging	Het
Gabrg1	A	T	5: 70,931,804 (GRCm39)	M313K	probably damaging	Het
Galnt10	T	C	11: 57,675,474 (GRCm39)	C578R	probably damaging	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Gsap	A	G	5: 21,431,323 (GRCm39)	R216G	probably damaging	Het
Gsap	A	T	5: 21,475,575 (GRCm39)	T570S	probably benign	Het
Gucy2d	A	T	7: 98,093,030 (GRCm39)	I136L	probably benign	Het
Hap1	A	T	11: 100,240,218 (GRCm39)	V294E	probably damaging	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Itsn1	C	T	16: 91,613,740 (GRCm39)	R251C	probably damaging	Het
Klf11	T	C	12: 24,701,567 (GRCm39)		probably null	Het
Kpna6	G	A	4: 129,543,099 (GRCm39)	Q439*	probably null	Het
Mark4	A	T	7: 19,163,441 (GRCm39)	S563T	probably benign	Het
Mrpl21	A	T	19: 3,333,084 (GRCm39)	I5L	probably benign	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Myrf	G	A	19: 10,189,839 (GRCm39)	T815I	probably damaging	Het
Olfr515-ps1	A	T	7: 108,444,178 (GRCm39)		probably null	Het
Or10d4c	G	T	9: 39,558,555 (GRCm39)	D178Y	probably damaging	Het
Or11g27	A	G	14: 50,771,778 (GRCm39)	N303S	probably benign	Het
Or4c15	C	T	2: 88,760,597 (GRCm39)	V21I	probably benign	Het
Or52n3	A	G	7: 104,530,289 (GRCm39)	Y125C	possibly damaging	Het
Os9	T	C	10: 126,935,812 (GRCm39)	D280G	probably benign	Het
Pcdhb14	A	G	18: 37,582,283 (GRCm39)	N463S	probably damaging	Het
Pex19	G	A	1: 171,961,606 (GRCm39)	E271K	probably damaging	Het
Ppdpf	G	A	2: 180,829,641 (GRCm39)	S32N	probably benign	Het
Prdm2	A	G	4: 142,859,477 (GRCm39)	I1271T	probably benign	Het
Rbbp4	T	C	4: 129,215,751 (GRCm39)	T262A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sult1e1	A	T	5: 87,727,770 (GRCm39)	S171T	probably damaging	Het
Tns1	T	C	1: 73,992,612 (GRCm39)	T689A	probably damaging	Het
Unc13c	G	C	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r52	T	C	7: 9,905,090 (GRCm39)	I250V	probably benign	Het
Vmn2r55	C	A	7: 12,402,069 (GRCm39)	L406F	probably benign	Het
Wdcp	T	C	12: 4,900,621 (GRCm39)	V159A	possibly damaging	Het
Zbtb3	C	T	19: 8,781,560 (GRCm39)	A391V	probably benign	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	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
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
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'- GATCAAGTTCCAGTACCGGG -3'
(R):5'- AACCCAATCCTGAGTGAGGG -3'

Sequencing Primer
(F):5'- CGGACCCTCACCATCAGC -3'
(R):5'- ATCCTGAGTGAGGGGCAGC -3'

Posted On

2017-10-10