Incidental Mutation 'IGL03260:Padi1'
ID414798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Padi1
Ensembl Gene ENSMUSG00000025329
Gene Namepeptidyl arginine deiminase, type I
SynonymsPad type 1, Pdi1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL03260
Quality Score
Status
Chromosome4
Chromosomal Location140812983-140845778 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140828194 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 240 (H240R)
Ref Sequence ENSEMBL: ENSMUSP00000026378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026378]
Predicted Effect probably benign
Transcript: ENSMUST00000026378
AA Change: H240R

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329
AA Change: H240R

DomainStartEndE-ValueType
Pfam:PAD_N 1 113 5.4e-39 PFAM
Pfam:PAD_M 115 272 1.3e-63 PFAM
Pfam:PAD 280 659 9.4e-170 PFAM
Coding Region Coverage
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 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
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik A G 10: 20,311,325 probably benign Het
Abca12 A G 1: 71,284,099 L1608P probably damaging Het
Akr1b8 G T 6: 34,363,459 probably benign Het
Appbp2 A G 11: 85,216,457 V69A probably benign Het
Ces1e T C 8: 93,223,917 N79D probably benign Het
Cldn34b3 A G X: 76,266,873 T16A probably damaging Het
Frmd4b A T 6: 97,396,224 F103Y probably damaging Het
Ifi47 T C 11: 49,096,105 F233S probably damaging Het
Igkv8-30 A T 6: 70,117,355 M24K probably damaging Het
Krt72 C T 15: 101,778,273 A413T probably damaging Het
Lingo4 A G 3: 94,401,943 T63A probably benign Het
Naa35 T G 13: 59,627,885 S125A probably benign Het
Olfr5 A T 7: 6,480,659 C166S probably damaging Het
Olfr809 T C 10: 129,776,652 V261A probably damaging Het
Ppp1r12a A G 10: 108,261,245 T240A probably benign Het
Ppp2ca A G 11: 52,113,148 N44S probably damaging Het
Prg4 T A 1: 150,455,627 probably benign Het
Rab33a A G X: 48,519,668 E23G probably benign Het
Scarb2 G T 5: 92,446,437 A422E probably damaging Het
Scn4b A T 9: 45,147,689 N86I probably damaging Het
Serpina1d G A 12: 103,763,849 T358I probably damaging Het
Slc12a3 T A 8: 94,333,242 I172N probably damaging Het
Slc18a1 T C 8: 69,075,114 E15G probably benign Het
Snx7 A G 3: 117,782,293 probably benign Het
Srpx T A X: 10,055,748 K216* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Unc13c A G 9: 73,931,344 S742P probably benign Het
Vmn2r104 C T 17: 20,042,821 C126Y probably benign Het
Vmn2r63 A T 7: 42,929,192 N92K probably damaging Het
Other mutations in Padi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Padi1 APN 4 140829435 missense probably damaging 1.00
IGL01972:Padi1 APN 4 140818859 splice site probably benign
R0598:Padi1 UTSW 4 140814787 missense possibly damaging 0.84
R1164:Padi1 UTSW 4 140832329 missense possibly damaging 0.50
R1793:Padi1 UTSW 4 140814656 missense probably damaging 1.00
R4208:Padi1 UTSW 4 140817227 missense possibly damaging 0.80
R4256:Padi1 UTSW 4 140814778 missense probably damaging 1.00
R4484:Padi1 UTSW 4 140817270 intron probably benign
R4926:Padi1 UTSW 4 140824847 missense probably damaging 0.99
R4967:Padi1 UTSW 4 140845590 missense probably benign 0.00
R5066:Padi1 UTSW 4 140829437 missense probably damaging 1.00
R5523:Padi1 UTSW 4 140814853 missense probably damaging 1.00
R5622:Padi1 UTSW 4 140824955 missense probably damaging 1.00
R5850:Padi1 UTSW 4 140814830 missense probably benign 0.03
R5870:Padi1 UTSW 4 140826581 missense probably benign 0.39
R5951:Padi1 UTSW 4 140814829 missense probably damaging 1.00
R6187:Padi1 UTSW 4 140826965 missense probably damaging 1.00
R7257:Padi1 UTSW 4 140829471 missense probably damaging 1.00
R7326:Padi1 UTSW 4 140832404 missense probably benign 0.15
R7339:Padi1 UTSW 4 140829234 missense probably null 0.98
X0024:Padi1 UTSW 4 140828167 missense probably benign 0.01
Posted On2016-08-02