Mutagenetix > Incidental Mutation

Incidental Mutation 'R1413:Irf6'

159665

Institutional Source

Beutler Lab

Gene Symbol

Irf6

Ensembl Gene

ENSMUSG00000026638

Gene Name

interferon regulatory factor 6

Synonyms

E230028I05Rik

MMRRC Submission

039469-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.834) question?

Stock #

R1413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

192835419-192854331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 192851613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 401 (M401I)

Ref Sequence

ENSEMBL: ENSMUSP00000075839 (fasta)

Gene Model

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

AlphaFold

P97431

Predicted Effect

probably benign
Transcript: ENSMUST00000076521
AA Change: M401I

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638
AA Change: M401I

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000192189

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,573,245 (GRCm39)	N1051D	possibly damaging	Het
Abcc9	A	G	6: 142,536,222 (GRCm39)	V1504A	probably damaging	Het
Actr6	A	T	10: 89,564,019 (GRCm39)	Y84*	probably null	Het
Adgrl3	T	C	5: 81,841,366 (GRCm39)	Y816H	probably damaging	Het
Ahcyl2	T	C	6: 29,768,586 (GRCm39)		probably benign	Het
Amd1	A	T	10: 40,166,404 (GRCm39)	C157*	probably null	Het
Ank1	G	A	8: 23,609,393 (GRCm39)	E1362K	probably damaging	Het
Atp10b	A	G	11: 43,121,391 (GRCm39)	Q1018R	probably benign	Het
Atp1a2	G	A	1: 172,106,911 (GRCm39)	T803I	probably damaging	Het
Atr	T	G	9: 95,814,495 (GRCm39)	L2064R	probably damaging	Het
Bmp3	T	A	5: 99,020,264 (GRCm39)	L229Q	probably damaging	Het
Ccl25	A	G	8: 4,403,892 (GRCm39)	*54W	probably null	Het
Cdc45	A	T	16: 18,627,491 (GRCm39)	N111K	possibly damaging	Het
Cfap61	T	A	2: 145,805,363 (GRCm39)	S154T	probably benign	Het
Cyp2c37	T	A	19: 39,982,542 (GRCm39)	S127T	probably benign	Het
Cyp4f40	T	A	17: 32,892,913 (GRCm39)	D309E	probably benign	Het
D6Ertd527e	A	G	6: 87,088,335 (GRCm39)	D166G	unknown	Het
Dmbt1	T	A	7: 130,651,944 (GRCm39)	D395E	probably damaging	Het
Dnah5	A	G	15: 28,370,555 (GRCm39)	S2832G	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Fah	T	C	7: 84,242,420 (GRCm39)	D296G	probably damaging	Het
Fam83g	A	G	11: 61,593,504 (GRCm39)	N346S	probably damaging	Het
Fgl1	T	A	8: 41,644,638 (GRCm39)	T289S	possibly damaging	Het
Fmo1	A	C	1: 162,661,431 (GRCm39)	L284R	probably damaging	Het
Frem3	T	A	8: 81,395,430 (GRCm39)	M1819K	probably benign	Het
Fsip2	T	A	2: 82,818,762 (GRCm39)	L4832M	possibly damaging	Het
Fut1	T	C	7: 45,268,852 (GRCm39)	W269R	probably damaging	Het
Ggnbp2	A	G	11: 84,723,955 (GRCm39)	Y638H	probably damaging	Het
Gp2	T	A	7: 119,050,853 (GRCm39)	I293F	probably benign	Het
Gpi1	T	C	7: 33,929,580 (GRCm39)	N20S	probably benign	Het
Gxylt1	C	T	15: 93,152,273 (GRCm39)	R222H	probably damaging	Het
Hemgn	T	C	4: 46,396,091 (GRCm39)	K382E	possibly damaging	Het
Hook3	T	A	8: 26,528,134 (GRCm39)	E585D	probably damaging	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Lactb	T	A	9: 66,878,201 (GRCm39)	R209S	probably damaging	Het
Lonp2	A	G	8: 87,368,212 (GRCm39)	D342G	probably damaging	Het
Mmachc	T	C	4: 116,563,194 (GRCm39)	S54G	probably damaging	Het
Mpp7	C	A	18: 7,350,977 (GRCm39)	W573C	probably damaging	Het
Or13e8	T	A	4: 43,697,011 (GRCm39)	H54L	possibly damaging	Het
Or5w1b	T	A	2: 87,476,182 (GRCm39)	Y95F	probably benign	Het
Or6b2b	A	T	1: 92,418,610 (GRCm39)	I289N	probably damaging	Het
Pappa2	A	T	1: 158,764,124 (GRCm39)	D462E	probably benign	Het
Pcdh12	A	T	18: 38,416,496 (GRCm39)	F210I	probably damaging	Het
Ppp1r12c	A	G	7: 4,487,443 (GRCm39)		probably null	Het
Prkce	T	A	17: 86,803,446 (GRCm39)	D448E	possibly damaging	Het
Ptprb	C	A	10: 116,175,584 (GRCm39)	T1193K	probably damaging	Het
Qrfpr	T	A	3: 36,236,809 (GRCm39)	E197D	possibly damaging	Het
Rusc2	T	A	4: 43,416,568 (GRCm39)	C625S	probably benign	Het
Shcbp1	T	G	8: 4,791,968 (GRCm39)		probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,196,143 (GRCm39)	C449*	probably null	Het
Stpg3	T	C	2: 25,103,862 (GRCm39)	D158G	probably damaging	Het
Sycp2	T	C	2: 177,989,590 (GRCm39)	Y1423C	probably benign	Het
Tiprl	C	T	1: 165,043,359 (GRCm39)	E256K	possibly damaging	Het
Tmem132c	T	A	5: 127,640,631 (GRCm39)	V934D	probably damaging	Het
Topors	A	G	4: 40,261,982 (GRCm39)	V434A	probably benign	Het
Usp11	A	G	X: 20,584,946 (GRCm39)	Y731C	probably damaging	Het
Vmn2r58	T	A	7: 41,513,387 (GRCm39)	I419L	probably benign	Het
Wfs1	C	A	5: 37,139,422 (GRCm39)	R72L	possibly damaging	Het
Zan	T	C	5: 137,426,201 (GRCm39)	D2525G	unknown	Het
Zfp280c	A	G	X: 47,652,715 (GRCm39)	V285A	probably benign	Het
Zfp511	T	A	7: 139,617,528 (GRCm39)	F177I	probably damaging	Het
Zfp964	A	G	8: 70,115,720 (GRCm39)	M107V	unknown	Het
Zmynd11	A	G	13: 9,760,256 (GRCm39)	Y122H	probably damaging	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
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
R6577:Irf6	UTSW	1	192,851,662 (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'- AGGCATGTGGAATGATGCTACATCC -3'
(R):5'- TGTCTAACGTCAGACGGAAACACAG -3'

Sequencing Primer
(F):5'- GAATGATGCTACATCCAGGTTCC -3'
(R):5'- gagttctggtgtctaaacttcG -3'

Posted On

2014-03-14