|Institutional Source||Beutler Lab|
|Gene Name||peptidyl arginine deiminase, type I|
|Synonyms||Pad type 1, Pdi1|
|Is this an essential gene?||Probably non essential (E-score: 0.139)|
|Stock #||R5951 (G1)|
|Chromosomal Location||140812983-140845778 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 140814829 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 594 (Y594C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026378 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000026378]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: Y594C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y594C
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.228|
|Coding Region Coverage||
|Validation Efficiency||100% (78/78)|
|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 peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Padi1||
(F):5'- AAGGTTTCCTCCGCACGTTG -3'
(R):5'- GAAACATTGTACCACTGAGCTAC -3'
(F):5'- TGGTGCCACAGTGGATCTCTC -3'
(R):5'- CGACTCCCAATTTATAATGGGC -3'