Incidental Mutation 'IGL01972:Padi1'
ID181669
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: 0.110) question?
Stock #IGL01972
Quality Score
Status
Chromosome4
Chromosomal Location140812983-140845778 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 140818859 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026378]
Predicted Effect probably benign
Transcript: ENSMUST00000026378
SMART Domains Protein: ENSMUSP00000026378
Gene: ENSMUSG00000025329

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151848
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahr T G 12: 35,504,449 D557A possibly damaging Het
Akap11 T C 14: 78,507,857 Q1697R probably damaging Het
Alpi T A 1: 87,099,709 T312S probably damaging Het
Cacna1b C A 2: 24,635,095 probably null Het
Car5a C T 8: 121,927,082 probably null Het
Cubn T C 2: 13,446,072 T841A possibly damaging Het
Eml6 A T 11: 29,838,451 F545I possibly damaging Het
Fam114a2 G A 11: 57,509,394 T156I probably damaging Het
Fam160a2 T C 7: 105,390,145 N5S probably damaging Het
Fbxl21 C T 13: 56,536,859 R259* probably null Het
Gm5117 C T 8: 31,737,759 noncoding transcript Het
Hc T C 2: 34,983,772 Y1650C probably damaging Het
Med12l C A 3: 59,261,893 T1568K probably damaging Het
Olfr429 G T 1: 174,089,421 C127F probably damaging Het
Olfr701 A G 7: 106,818,532 I150V probably benign Het
Olfr996 T C 2: 85,579,773 F178S probably damaging Het
Orm3 A G 4: 63,359,326 S184G probably benign Het
Rnf133 T C 6: 23,648,989 T357A probably benign Het
Skiv2l2 T C 13: 112,881,061 K853E probably damaging Het
Tmem17 A G 11: 22,517,265 S60G probably benign Het
Ubqlnl G T 7: 104,149,697 Q198K probably benign Het
Vmn1r69 A T 7: 10,580,659 Y48* probably null Het
Zfp658 G A 7: 43,572,710 W136* probably null Het
Other mutations in Padi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01844:Padi1 APN 4 140829435 missense probably damaging 1.00
IGL03260:Padi1 APN 4 140828194 missense probably benign 0.11
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
R8282:Padi1 UTSW 4 140814703 missense probably damaging 1.00
X0024:Padi1 UTSW 4 140828167 missense probably benign 0.01
Posted On2014-05-07