Incidental Mutation 'IGL01021:Padi3'
ID53551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Padi3
Ensembl Gene ENSMUSG00000025328
Gene Namepeptidyl arginine deiminase, type III
SynonymsPAD type III, Pdi3, Pad3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01021
Quality Score
Status
Chromosome4
Chromosomal Location140785365-140810648 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 140796334 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026377] [ENSMUST00000172098]
Predicted Effect probably benign
Transcript: ENSMUST00000026377
SMART Domains Protein: ENSMUSP00000026377
Gene: ENSMUSG00000025328

DomainStartEndE-ValueType
Pfam:PAD_N 1 113 2.1e-38 PFAM
Pfam:PAD_M 115 273 4.2e-61 PFAM
Pfam:PAD 283 661 2.3e-169 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172098
SMART Domains Protein: ENSMUSP00000130721
Gene: ENSMUSG00000025328

DomainStartEndE-ValueType
Pfam:PAD_N 14 103 3.9e-29 PFAM
Pfam:PAD_M 105 263 2.9e-69 PFAM
Pfam:PAD 268 654 5.3e-226 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 III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit alterations in coat/ hair and vibrissa morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 125,318,676 V80A unknown Het
Adam28 A G 14: 68,642,114 S162P probably benign Het
Adamts14 G T 10: 61,225,373 S426Y probably damaging Het
Ankrd24 A G 10: 81,635,161 probably null Het
B3galt5 C A 16: 96,315,723 H185Q probably benign Het
Bod1l A G 5: 41,838,173 probably benign Het
Ddx46 T A 13: 55,666,332 Y700* probably null Het
Dph7 T G 2: 24,971,923 probably null Het
Fcho1 A T 8: 71,713,523 Y354* probably null Het
Fnbp4 A G 2: 90,777,669 M912V probably benign Het
Fpgt T A 3: 155,091,492 E42V possibly damaging Het
Frmd3 A G 4: 74,074,120 I75V possibly damaging Het
Gm10264 G A 12: 88,329,272 G7R unknown Het
Gm3278 G T 14: 4,895,222 V159L possibly damaging Het
Gmds T C 13: 32,127,030 I205V possibly damaging Het
Gprin1 T A 13: 54,740,369 S31C probably damaging Het
Igkv4-68 T C 6: 69,304,881 E102G probably damaging Het
Itga1 T A 13: 114,997,000 Y458F probably benign Het
Kif20b T C 19: 34,938,260 V479A possibly damaging Het
Megf8 T A 7: 25,338,374 W772R probably benign Het
Muc6 T A 7: 141,637,162 I2533F possibly damaging Het
Npas3 T C 12: 54,003,560 S258P probably damaging Het
Pmfbp1 G T 8: 109,537,993 R897L possibly damaging Het
Rims1 A T 1: 22,486,620 W407R probably damaging Het
Scnn1b G T 7: 121,918,036 D632Y probably damaging Het
Tas2r123 G A 6: 132,847,406 A89T probably benign Het
Tbk1 T C 10: 121,551,272 E706G probably benign Het
Thra A G 11: 98,762,928 D195G possibly damaging Het
Tpp2 T A 1: 43,934,187 Y33* probably null Het
Usp6nl T A 2: 6,424,387 M220K probably damaging Het
Vmn2r112 C T 17: 22,618,904 T782I probably damaging Het
Zbtb43 T C 2: 33,453,759 T485A probably benign Het
Zfat T C 15: 68,170,166 I840V possibly damaging Het
Other mutations in Padi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Padi3 APN 4 140803624 missense possibly damaging 0.78
IGL00948:Padi3 APN 4 140788943 missense possibly damaging 0.92
IGL00949:Padi3 APN 4 140788943 missense possibly damaging 0.92
IGL02400:Padi3 APN 4 140788868 missense probably benign 0.00
IGL02449:Padi3 APN 4 140789712 critical splice donor site probably null
IGL02600:Padi3 APN 4 140798156 missense probably benign 0.15
IGL03342:Padi3 APN 4 140810598 nonsense probably null
FR4304:Padi3 UTSW 4 140792972 critical splice donor site probably benign
PIT4544001:Padi3 UTSW 4 140791483 missense probably benign 0.00
R0455:Padi3 UTSW 4 140795713 missense probably damaging 1.00
R0743:Padi3 UTSW 4 140786429 missense probably benign 0.00
R1279:Padi3 UTSW 4 140803577 missense probably benign 0.00
R2081:Padi3 UTSW 4 140798979 missense probably damaging 1.00
R3016:Padi3 UTSW 4 140786587 missense probably damaging 1.00
R3853:Padi3 UTSW 4 140791269 splice site probably benign
R4599:Padi3 UTSW 4 140798111 missense probably damaging 1.00
R4909:Padi3 UTSW 4 140795626 missense probably damaging 1.00
R5370:Padi3 UTSW 4 140810538 nonsense probably null
R5482:Padi3 UTSW 4 140795843 missense probably damaging 0.99
R6084:Padi3 UTSW 4 140795843 missense probably damaging 1.00
R6151:Padi3 UTSW 4 140796394 missense probably damaging 1.00
R6277:Padi3 UTSW 4 140791161 critical splice donor site probably null
R6343:Padi3 UTSW 4 140803508 missense possibly damaging 0.58
R6749:Padi3 UTSW 4 140795853 missense possibly damaging 0.94
R7096:Padi3 UTSW 4 140800124 missense probably damaging 1.00
R7403:Padi3 UTSW 4 140800119 missense probably benign
R7798:Padi3 UTSW 4 140786439 missense probably benign
R7818:Padi3 UTSW 4 140798142 missense possibly damaging 0.72
R8375:Padi3 UTSW 4 140798096 missense probably damaging 1.00
RF025:Padi3 UTSW 4 140792972 critical splice donor site probably benign
RF032:Padi3 UTSW 4 140792972 critical splice donor site probably benign
RF040:Padi3 UTSW 4 140792972 critical splice donor site probably benign
RF043:Padi3 UTSW 4 140792972 critical splice donor site probably benign
Z1176:Padi3 UTSW 4 140795671 missense possibly damaging 0.92
Z1176:Padi3 UTSW 4 140798123 missense not run
Z1177:Padi3 UTSW 4 140798123 missense not run
Posted On2013-06-28