Incidental Mutation 'R7887:Irf6'
ID609096
Institutional Source Beutler Lab
Gene Symbol Irf6
Ensembl Gene ENSMUSG00000026638
Gene Nameinterferon regulatory factor 6
SynonymsE230028I05Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.832) question?
Stock #R7887 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location193153111-193172023 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 193167732 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 321 (V321M)
Ref Sequence ENSEMBL: ENSMUSP00000075839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076521] [ENSMUST00000160822]
Predicted Effect probably damaging
Transcript: ENSMUST00000076521
AA Change: V321M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638
AA Change: V321M

DomainStartEndE-ValueType
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: ENSMUST00000160822
SMART Domains Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 15 263 2.7e-75 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (48/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh8 T A 9: 3,385,343 I580N probably damaging Het
Ankrd35 C T 3: 96,684,900 T834M probably damaging Het
Astn2 C T 4: 65,644,866 V893I possibly damaging Het
B4galt1 A G 4: 40,823,501 Y197H probably benign Het
Brdt T C 5: 107,359,933 S676P possibly damaging Het
Chrdl2 T C 7: 100,029,250 V343A possibly damaging Het
Clcn3 A T 8: 60,941,399 M59K probably benign Het
Cpne4 A T 9: 105,032,791 N529I probably damaging Het
Crcp G T 5: 130,037,870 K32N possibly damaging Het
Ddx54 C T 5: 120,627,203 R846C probably damaging Het
Dennd6a T C 14: 26,599,657 S118P possibly damaging Het
Egr3 A G 14: 70,079,202 Y116C probably damaging Het
Fbxw25 A G 9: 109,649,594 probably null Het
Focad T G 4: 88,182,616 I313M probably damaging Het
Gm10272 C T 10: 77,706,945 P107L probably benign Het
Gpr26 A C 7: 131,966,973 I16L probably benign Het
Gpr39 C A 1: 125,677,542 T69K probably damaging Het
Hacl1 C T 14: 31,634,227 G97S probably damaging Het
Idh3b A C 2: 130,281,758 D136E probably damaging Het
Klrg2 T A 6: 38,636,571 T166S probably damaging Het
Lnx2 T C 5: 147,019,043 I648V probably damaging Het
Mecr A G 4: 131,860,866 probably null Het
Mnat1 T A 12: 73,188,191 S205T probably benign Het
Mpnd G A 17: 56,011,097 G204D probably benign Het
Myh7 C T 14: 54,983,662 E935K possibly damaging Het
Nid1 G T 13: 13,499,733 R899L possibly damaging Het
Nisch C T 14: 31,176,695 W664* probably null Het
Nudt6 C T 3: 37,412,380 V157I possibly damaging Het
Olfr1156 T C 2: 87,949,880 M118V probably damaging Het
Olfr573-ps1 A C 7: 102,942,151 L142R possibly damaging Het
Olfr949-ps1 A T 9: 39,364,879 M107L unknown Het
Onecut2 T A 18: 64,340,975 M180K possibly damaging Het
Parg T A 14: 32,217,662 D548E possibly damaging Het
Pclo GTCTAT GTCTATTCTAT 5: 14,714,190 probably null Het
Phf11d A G 14: 59,359,580 Y57H probably damaging Het
Prkaca T C 8: 83,986,895 V99A probably benign Het
Rnf144b T A 13: 47,239,811 C209S probably damaging Het
Scly G A 1: 91,300,641 probably null Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,819,695 probably benign Het
Sphkap T C 1: 83,277,412 Y872C probably benign Het
Ssh1 C T 5: 113,961,349 probably null Het
Strap T G 6: 137,739,809 L129V possibly damaging Het
Sympk T C 7: 19,034,439 I111T possibly damaging Het
Tprn C A 2: 25,264,012 A442E probably damaging Het
Tsen34 T C 7: 3,694,708 L36P probably damaging Het
Ubr4 T C 4: 139,407,810 F818L probably damaging Het
Uggt1 T C 1: 36,208,034 Y294C probably damaging Het
Usp20 A G 2: 31,020,894 K862E probably benign Het
Vmn1r201 A T 13: 22,474,786 I57F probably damaging Het
Wdr64 C T 1: 175,785,545 A662V not run Het
Other mutations in Irf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03269:Irf6 APN 1 193162598 splice site probably benign
R0068:Irf6 UTSW 1 193165759 unclassified probably benign
R1317:Irf6 UTSW 1 193169301 missense probably damaging 1.00
R1413:Irf6 UTSW 1 193169305 missense probably benign 0.22
R1761:Irf6 UTSW 1 193169301 missense probably damaging 1.00
R1856:Irf6 UTSW 1 193167535 missense probably benign 0.32
R3712:Irf6 UTSW 1 193162623 missense probably benign 0.00
R3941:Irf6 UTSW 1 193168549 missense probably benign 0.17
R4717:Irf6 UTSW 1 193167434 splice site probably null
R6461:Irf6 UTSW 1 193167471 missense probably damaging 1.00
R6530:Irf6 UTSW 1 193157349 missense probably damaging 1.00
R6577:Irf6 UTSW 1 193169354 missense probably damaging 1.00
R6883:Irf6 UTSW 1 193167466 missense probably damaging 1.00
R7116:Irf6 UTSW 1 193167597 missense probably damaging 1.00
R7698:Irf6 UTSW 1 193161767 missense probably damaging 1.00
R7894:Irf6 UTSW 1 193162713 missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- AGCTCTTTGGTCCTGTCAGC -3'
(R):5'- TACACCAGGAAAGCTTAGGTG -3'

Sequencing Primer
(F):5'- CCTGGAGCAGGTCAAGTTC -3'
(R):5'- CCAGGAAAGCTTAGGTGGGGTG -3'
Posted On2019-12-20