Incidental Mutation 'IGL01013:Padi6'
ID 53522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Padi6
Ensembl Gene ENSMUSG00000040935
Gene Name peptidyl arginine deiminase, type VI
Synonyms Padi5, Pad6, ePAD
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01013
Quality Score
Status
Chromosome 4
Chromosomal Location 140727355-140742643 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140729003 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 560 (L560P)
Ref Sequence ENSEMBL: ENSMUSP00000044044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038749]
AlphaFold Q8K3V4
Predicted Effect probably damaging
Transcript: ENSMUST00000038749
AA Change: L560P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: L560P

DomainStartEndE-ValueType
Pfam:PAD_N 1 112 5.6e-38 PFAM
Pfam:PAD_M 114 269 6e-53 PFAM
Pfam:PAD 280 679 4.7e-149 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125046
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. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 (GRCm38) E499D possibly damaging Het
Abca1 A T 4: 53,038,185 (GRCm38) L2059* probably null Het
Ankar T A 1: 72,650,989 (GRCm38) I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 (GRCm38) Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 (GRCm38) R1103L probably benign Het
B4galt6 A G 18: 20,689,013 (GRCm38) V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 (GRCm38) P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 (GRCm38) E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 (GRCm38) R141* probably null Het
Cpsf1 G A 15: 76,599,297 (GRCm38) Q883* probably null Het
Crot A G 5: 8,993,575 (GRCm38) Y16H probably benign Het
Cyld T G 8: 88,742,362 (GRCm38) L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 (GRCm38) probably null Het
Fam89b G T 19: 5,729,369 (GRCm38) D53E probably benign Het
Fig4 T C 10: 41,267,786 (GRCm38) M226V probably benign Het
Gm10722 A T 9: 3,002,230 (GRCm38) Y184F probably damaging Het
Hp C A 8: 109,579,021 (GRCm38) probably benign Het
Igsf9b G T 9: 27,334,304 (GRCm38) R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 (GRCm38) N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 (GRCm38) E228A possibly damaging Het
Kpna3 A T 14: 61,370,517 (GRCm38) I413K probably damaging Het
Letm1 A T 5: 33,762,590 (GRCm38) C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 (GRCm38) Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 (GRCm38) probably benign Het
Mcidas T A 13: 112,997,585 (GRCm38) probably benign Het
Mme A G 3: 63,327,860 (GRCm38) probably null Het
Mrc1 T C 2: 14,328,425 (GRCm38) W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 (GRCm38) Q473K probably damaging Het
Muc6 A T 7: 141,648,066 (GRCm38) C719* probably null Het
Nsun7 T C 5: 66,283,601 (GRCm38) I355T possibly damaging Het
Parl C A 16: 20,282,790 (GRCm38) A285S possibly damaging Het
Pclo A T 5: 14,793,834 (GRCm38) M4795L unknown Het
Polr2f A G 15: 79,146,129 (GRCm38) Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 (GRCm38) H152L probably damaging Het
Rpl10l T C 12: 66,284,227 (GRCm38) D44G probably benign Het
Slc25a16 A G 10: 62,944,433 (GRCm38) probably null Het
Snrnp200 G A 2: 127,232,472 (GRCm38) E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 (GRCm38) R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 (GRCm38) probably null Het
Tcf7l2 T C 19: 55,919,627 (GRCm38) probably benign Het
Tnrc6c G T 11: 117,722,029 (GRCm38) V498L probably benign Het
Tymp G A 15: 89,376,310 (GRCm38) H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 (GRCm38) S492P probably benign Het
Zc3h12d T C 10: 7,839,956 (GRCm38) I41T probably damaging Het
Other mutations in Padi6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Padi6 APN 4 140,727,623 (GRCm38) missense possibly damaging 0.56
IGL01068:Padi6 APN 4 140,730,953 (GRCm38) missense possibly damaging 0.70
IGL01945:Padi6 APN 4 140,741,924 (GRCm38) missense probably benign 0.24
streetwise UTSW 4 140,741,558 (GRCm38) nonsense probably null
R0097:Padi6 UTSW 4 140,730,957 (GRCm38) missense probably benign 0.09
R0097:Padi6 UTSW 4 140,730,957 (GRCm38) missense probably benign 0.09
R0135:Padi6 UTSW 4 140,737,352 (GRCm38) missense probably benign 0.04
R0437:Padi6 UTSW 4 140,728,929 (GRCm38) missense probably benign 0.01
R1581:Padi6 UTSW 4 140,735,836 (GRCm38) missense probably damaging 1.00
R2024:Padi6 UTSW 4 140,728,968 (GRCm38) missense possibly damaging 0.78
R3150:Padi6 UTSW 4 140,735,389 (GRCm38) missense probably damaging 1.00
R3176:Padi6 UTSW 4 140,735,389 (GRCm38) missense probably damaging 1.00
R3177:Padi6 UTSW 4 140,735,389 (GRCm38) missense probably damaging 1.00
R3276:Padi6 UTSW 4 140,735,389 (GRCm38) missense probably damaging 1.00
R3277:Padi6 UTSW 4 140,735,389 (GRCm38) missense probably damaging 1.00
R4168:Padi6 UTSW 4 140,741,934 (GRCm38) missense probably damaging 0.99
R4727:Padi6 UTSW 4 140,731,195 (GRCm38) missense probably damaging 1.00
R5063:Padi6 UTSW 4 140,741,880 (GRCm38) missense probably benign 0.01
R5382:Padi6 UTSW 4 140,731,210 (GRCm38) missense probably damaging 1.00
R5408:Padi6 UTSW 4 140,727,685 (GRCm38) missense probably damaging 1.00
R5604:Padi6 UTSW 4 140,731,162 (GRCm38) missense probably damaging 0.96
R5790:Padi6 UTSW 4 140,732,258 (GRCm38) missense probably damaging 1.00
R7084:Padi6 UTSW 4 140,741,558 (GRCm38) nonsense probably null
R7533:Padi6 UTSW 4 140,731,195 (GRCm38) missense probably damaging 1.00
R7581:Padi6 UTSW 4 140,728,929 (GRCm38) missense probably benign 0.01
R7662:Padi6 UTSW 4 140,728,995 (GRCm38) missense probably benign 0.00
R7766:Padi6 UTSW 4 140,730,975 (GRCm38) missense probably benign 0.02
R7872:Padi6 UTSW 4 140,727,762 (GRCm38) missense probably damaging 1.00
R8333:Padi6 UTSW 4 140,737,376 (GRCm38) missense probably damaging 1.00
R8347:Padi6 UTSW 4 140,735,408 (GRCm38) missense probably benign 0.00
R8550:Padi6 UTSW 4 140,732,703 (GRCm38) missense probably benign 0.15
R8979:Padi6 UTSW 4 140,739,163 (GRCm38) missense probably benign 0.03
R9628:Padi6 UTSW 4 140,737,315 (GRCm38) missense probably damaging 1.00
RF007:Padi6 UTSW 4 140,729,743 (GRCm38) missense probably damaging 1.00
Posted On 2013-06-28