|Institutional Source||Beutler Lab|
|Gene Name||interferon regulatory factor 6|
|Is this an essential gene?||Probably essential (E-score: 0.759)|
|Stock #||R7698 (G1)|
|Chromosomal Location||193153111-193172023 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 193161767 bp|
|Amino Acid Change||Isoleucine to Threonine at position 110 (I110T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075839 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076521]|
|Predicted Effect||probably damaging
AA Change: I110T
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I110T
|Coding Region Coverage||
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||
|Other mutations in Irf6||
(F):5'- AGTGGTCAGCATTCACACTG -3'
(R):5'- TCTCCTACCAGAAGAACGGTAC -3'
(F):5'- GTTTCATTCCTCAGGCTTGGGC -3'
(R):5'- GAAGAACGGTACCCTCATCTACCTTC -3'