Mutagenetix > Incidental Mutation

Incidental Mutation 'R6577:Irf6'

523528

Institutional Source

Beutler Lab

Gene Symbol

Irf6

Ensembl Gene

ENSMUSG00000026638

Gene Name

interferon regulatory factor 6

Synonyms

E230028I05Rik

MMRRC Submission

044701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R6577 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

192835419-192854331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 192851662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 418 (S418G)

Ref Sequence

ENSEMBL: ENSMUSP00000075839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076521] [ENSMUST00000110831] [ENSMUST00000160077] [ENSMUST00000160822] [ENSMUST00000161235] [ENSMUST00000178744] [ENSMUST00000192189] [ENSMUST00000193307] [ENSMUST00000191613]

AlphaFold

P97431

Predicted Effect

probably damaging
Transcript: ENSMUST00000076521
AA Change: S418G

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

SMART Domains

Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638
AA Change: S418G

Domain	Start	End	E-Value	Type
IRF	3	116	1.98e-59	SMART
low complexity region	135	151	N/A	INTRINSIC
Blast:IRF	158	189	6e-8	BLAST
IRF-3	223	407	3.92e-86	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110831

SMART Domains

Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	263	1.4e-83	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138826

Predicted Effect

probably benign
Transcript: ENSMUST00000160077

SMART Domains

Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	163	6.7e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160822

SMART Domains

Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	15	263	2.7e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161235

SMART Domains

Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	263	1.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178744

SMART Domains

Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	263	1.4e-83	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193772

Predicted Effect

probably benign
Transcript: ENSMUST00000192189

Predicted Effect

probably benign
Transcript: ENSMUST00000193307

SMART Domains

Protein: ENSMUSP00000142273
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	84	3.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191613

SMART Domains

Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144

Domain	Start	End	E-Value	Type
Pfam:DUF4504	13	70	7.3e-15	PFAM

Meta Mutation Damage Score

0.1180

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

97% (38/39)

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 transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]
PHENOTYPE: Mice with mutations of Irf6 display craniofacial, limb, and skin defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Api5	T	C	2: 94,252,726 (GRCm39)	Y348C	probably benign	Het
Ark2n	T	C	18: 77,740,855 (GRCm39)	T285A	probably benign	Het
Arl14	A	G	3: 69,130,405 (GRCm39)	E184G	probably benign	Het
Asap3	T	C	4: 135,965,541 (GRCm39)		probably null	Het
Atp11b	T	A	3: 35,893,311 (GRCm39)	V36E	probably damaging	Het
Atp13a4	C	T	16: 29,298,659 (GRCm39)	S100N	probably benign	Het
Cd27	T	C	6: 125,213,756 (GRCm39)	T34A	probably benign	Het
Clec10a	T	C	11: 70,061,436 (GRCm39)	S274P	probably benign	Het
Cntnap2	C	T	6: 46,147,206 (GRCm39)	T484I	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Cracd	A	T	5: 77,013,947 (GRCm39)		probably benign	Het
Def8	T	C	8: 124,183,449 (GRCm39)	S304P	probably benign	Het
Dgkd	G	A	1: 87,867,962 (GRCm39)	V299M	probably damaging	Het
Ephb2	T	C	4: 136,384,861 (GRCm39)	D850G	probably damaging	Het
Gjd3	T	C	11: 102,691,130 (GRCm39)	N291S	possibly damaging	Het
Hc	T	C	2: 34,922,138 (GRCm39)	I563V	probably benign	Het
Hells	C	T	19: 38,919,909 (GRCm39)	Q20*	probably null	Het
Hid1	G	C	11: 115,245,462 (GRCm39)	P448A	possibly damaging	Het
Igkv8-24	C	T	6: 70,193,947 (GRCm39)	R87H	possibly damaging	Het
Kcnv2	T	A	19: 27,301,420 (GRCm39)	C424S	possibly damaging	Het
Lmln	T	A	16: 32,927,370 (GRCm39)		probably null	Het
Myo1a	A	T	10: 127,551,189 (GRCm39)	I678F	possibly damaging	Het
Nup98	A	C	7: 101,778,053 (GRCm39)		probably null	Het
Papolg	GGACTTGGGATACTTACGCTTTG	GG	11: 23,829,857 (GRCm39)		probably benign	Het
Ppfibp1	T	A	6: 146,901,153 (GRCm39)		probably null	Het
Sardh	T	C	2: 27,108,867 (GRCm39)	T623A	possibly damaging	Het
Scml4	A	G	10: 42,823,107 (GRCm39)	N251D	probably damaging	Het
Skap1	T	C	11: 96,416,870 (GRCm39)	Y52H	probably damaging	Het
Srp68	G	A	11: 116,156,290 (GRCm39)	R113W	probably damaging	Het
Srsf12	T	C	4: 33,209,196 (GRCm39)		probably benign	Het
Stat5b	A	G	11: 100,688,526 (GRCm39)	M312T	probably benign	Het
Tma7	T	C	9: 108,911,262 (GRCm39)		probably benign	Het
Tmem120b	T	G	5: 123,254,710 (GRCm39)	F304V	probably damaging	Het
Tns3	G	A	11: 8,499,057 (GRCm39)	L9F	probably damaging	Het
Tns3	G	T	11: 8,499,058 (GRCm39)	D8E	probably damaging	Het
Tsc2	C	T	17: 24,829,473 (GRCm39)	A765T	probably damaging	Het
Tut7	C	T	13: 59,955,975 (GRCm39)	C45Y	probably damaging	Het
Uba1y	A	G	Y: 825,465 (GRCm39)	I276V	probably benign	Homo
Upb1	T	G	10: 75,248,723 (GRCm39)	L81R	probably damaging	Het
Uros	C	A	7: 133,302,569 (GRCm39)	C73F	probably damaging	Het
Zfp820	T	C	17: 22,038,384 (GRCm39)	I315V	probably benign	Het

Other mutations in Irf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03269:Irf6	APN	1	192,844,906 (GRCm39)	splice site	probably benign
R0068:Irf6	UTSW	1	192,848,067 (GRCm39)	unclassified	probably benign
R1317:Irf6	UTSW	1	192,851,609 (GRCm39)	missense	probably damaging	1.00
R1413:Irf6	UTSW	1	192,851,613 (GRCm39)	missense	probably benign	0.22
R1761:Irf6	UTSW	1	192,851,609 (GRCm39)	missense	probably damaging	1.00
R1856:Irf6	UTSW	1	192,849,843 (GRCm39)	missense	probably benign	0.32
R3712:Irf6	UTSW	1	192,844,931 (GRCm39)	missense	probably benign	0.00
R3941:Irf6	UTSW	1	192,850,857 (GRCm39)	missense	probably benign	0.17
R4717:Irf6	UTSW	1	192,849,742 (GRCm39)	splice site	probably null
R6461:Irf6	UTSW	1	192,849,779 (GRCm39)	missense	probably damaging	1.00
R6530:Irf6	UTSW	1	192,839,657 (GRCm39)	missense	probably damaging	1.00
R6883:Irf6	UTSW	1	192,849,774 (GRCm39)	missense	probably damaging	1.00
R7116:Irf6	UTSW	1	192,849,905 (GRCm39)	missense	probably damaging	1.00
R7698:Irf6	UTSW	1	192,844,075 (GRCm39)	missense	probably damaging	1.00
R7887:Irf6	UTSW	1	192,850,040 (GRCm39)	missense	probably damaging	1.00
R7894:Irf6	UTSW	1	192,845,021 (GRCm39)	missense	probably benign	0.22
R8934:Irf6	UTSW	1	192,845,033 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ATGATGCTACATCCAGGTTCC -3'
(R):5'- ACAGCAGTCTGGGTCACTG -3'

Sequencing Primer
(F):5'- CCTTGACTAGTGAGATATAGCTGTTC -3'
(R):5'- AGTCTGGGTCACTGGGCAG -3'

Posted On

2018-06-22