|Institutional Source||Beutler Lab|
|Gene Name||excision repair cross-complementing rodent repair deficiency, complementation group 4|
|Is this an essential gene?||Probably essential (E-score: 0.972)|
|Stock #||R4756 (G1)|
|Chromosomal Location||13109684-13150617 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 13123423 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 225 (I225N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023206 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023206] [ENSMUST00000129049] [ENSMUST00000141024]|
|Predicted Effect||probably damaging
AA Change: I225N
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: I225N
|Predicted Effect||possibly damaging
AA Change: I135N
PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
AA Change: I205N
PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice show impaired growth and do not survive longer than several weeks of age. Cultutred cells obtained from mutant mice were shown to be hypersensitive to UV irradiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ercc4||
(F):5'- GGGCTGACACATTTTCTGGG -3'
(R):5'- GGTGAATATTGAAATGCCTTCCAC -3'
(F):5'- CACATTTTCTGGGCACTCAGTGAG -3'
(R):5'- TGAAATGCCTTCCACTCTTTAAAAC -3'