Incidental Mutation 'IGL01945:Padi6'
ID 181230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Padi6
Ensembl Gene ENSMUSG00000040935
Gene Name peptidyl arginine deiminase, type VI
Synonyms ePAD, Padi5, Pad6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01945
Quality Score
Status
Chromosome 4
Chromosomal Location 140454666-140469954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140469235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 35 (D35G)
Ref Sequence ENSEMBL: ENSMUSP00000044044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026381] [ENSMUST00000038749] [ENSMUST00000130267]
AlphaFold Q8K3V4
Predicted Effect probably benign
Transcript: ENSMUST00000026381
SMART Domains Protein: ENSMUSP00000026381
Gene: ENSMUSG00000025330

DomainStartEndE-ValueType
Pfam:PAD_N 1 111 2.3e-38 PFAM
Pfam:PAD_M 113 273 2.4e-63 PFAM
Pfam:PAD 283 663 2.4e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038749
AA Change: D35G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: D35G

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 probably benign
Transcript: ENSMUST00000130267
SMART Domains Protein: ENSMUSP00000123490
Gene: ENSMUSG00000040935

DomainStartEndE-ValueType
Pfam:PAD_M 39 191 1.1e-57 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. 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 109,974,130 (GRCm39) probably benign Het
Acta2 A G 19: 34,229,254 (GRCm39) V45A probably benign Het
Adam11 G A 11: 102,663,736 (GRCm39) V305M probably damaging Het
Adcy1 A G 11: 7,111,891 (GRCm39) K919E probably damaging Het
Afap1l1 T C 18: 61,889,934 (GRCm39) T101A probably benign Het
Apbb2 T A 5: 66,557,594 (GRCm39) D289V probably damaging Het
Appl1 A G 14: 26,650,612 (GRCm39) V520A possibly damaging Het
Atp5mc3 G A 2: 73,741,313 (GRCm39) R9C probably benign Het
Atp8a2 A G 14: 60,263,609 (GRCm39) L375P probably damaging Het
Cavin1 A T 11: 100,861,246 (GRCm39) F16Y probably benign Het
Ccdc185 C A 1: 182,576,441 (GRCm39) V83L probably benign Het
Ccdc80 T A 16: 44,938,608 (GRCm39) S772T probably damaging Het
Cntn4 T A 6: 106,414,865 (GRCm39) V132E probably damaging Het
Coa5 A T 1: 37,468,979 (GRCm39) C24S probably damaging Het
Col6a5 A T 9: 105,805,489 (GRCm39) V1139D unknown Het
Ddx46 C A 13: 55,802,885 (GRCm39) S469* probably null Het
Ep300 A G 15: 81,500,310 (GRCm39) probably benign Het
Fcna A T 2: 25,517,847 (GRCm39) M1K probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gstm3 T C 3: 107,874,973 (GRCm39) E93G probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Hepacam2 T A 6: 3,487,117 (GRCm39) Y4F probably benign Het
Hipk1 T C 3: 103,651,320 (GRCm39) I1148V possibly damaging Het
Il1r2 A G 1: 40,141,613 (GRCm39) T9A possibly damaging Het
Kl A T 5: 150,912,402 (GRCm39) D717V probably damaging Het
Krt75 G A 15: 101,478,599 (GRCm39) T345M possibly damaging Het
Myo5a T A 9: 75,047,953 (GRCm39) H260Q probably damaging Het
Nckap1l G A 15: 103,370,069 (GRCm39) G156D probably damaging Het
Nlrp1b T G 11: 71,072,233 (GRCm39) T537P probably damaging Het
Nudt17 A G 3: 96,614,355 (GRCm39) I201T probably damaging Het
Or5k3 T C 16: 58,969,827 (GRCm39) S205P probably benign Het
Or6c8 A T 10: 128,915,172 (GRCm39) I220N probably damaging Het
Or7g27 A T 9: 19,250,628 (GRCm39) S291C probably damaging Het
Plcb1 A T 2: 135,062,711 (GRCm39) Y107F probably benign Het
Plek2 T A 12: 78,938,922 (GRCm39) H279L probably damaging Het
Plk2 A G 13: 110,535,588 (GRCm39) D470G possibly damaging Het
Ranbp17 T C 11: 33,278,520 (GRCm39) T116A possibly damaging Het
Rbck1 G A 2: 152,160,236 (GRCm39) P481L probably damaging Het
Reps1 A G 10: 17,969,584 (GRCm39) N229S probably benign Het
Rngtt T C 4: 33,339,073 (GRCm39) W293R probably damaging Het
Robo1 A T 16: 72,759,114 (GRCm39) I376F probably damaging Het
Ryr2 T A 13: 11,805,249 (GRCm39) I872F probably damaging Het
Sgip1 T C 4: 102,823,439 (GRCm39) Y707H probably damaging Het
Slc17a5 G T 9: 78,495,214 (GRCm39) D12E probably benign Het
Slco1a5 T A 6: 142,189,715 (GRCm39) probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strap A G 6: 137,718,333 (GRCm39) I146V probably benign Het
Tcim A T 8: 24,928,892 (GRCm39) H7Q probably benign Het
Tgfbr3 A G 5: 107,269,224 (GRCm39) probably null Het
Thada G T 17: 84,530,194 (GRCm39) T1725N probably benign Het
Trhr T C 15: 44,060,540 (GRCm39) V20A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wnt5a A G 14: 28,240,519 (GRCm39) N223S probably damaging Het
Other mutations in Padi6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Padi6 APN 4 140,454,934 (GRCm39) missense possibly damaging 0.56
IGL01013:Padi6 APN 4 140,456,314 (GRCm39) missense probably damaging 0.98
IGL01068:Padi6 APN 4 140,458,264 (GRCm39) missense possibly damaging 0.70
streetwise UTSW 4 140,468,869 (GRCm39) nonsense probably null
R0097:Padi6 UTSW 4 140,458,268 (GRCm39) missense probably benign 0.09
R0097:Padi6 UTSW 4 140,458,268 (GRCm39) missense probably benign 0.09
R0135:Padi6 UTSW 4 140,464,663 (GRCm39) missense probably benign 0.04
R0437:Padi6 UTSW 4 140,456,240 (GRCm39) missense probably benign 0.01
R1581:Padi6 UTSW 4 140,463,147 (GRCm39) missense probably damaging 1.00
R2024:Padi6 UTSW 4 140,456,279 (GRCm39) missense possibly damaging 0.78
R3150:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R3176:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R3177:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R3276:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R3277:Padi6 UTSW 4 140,462,700 (GRCm39) missense probably damaging 1.00
R4168:Padi6 UTSW 4 140,469,245 (GRCm39) missense probably damaging 0.99
R4727:Padi6 UTSW 4 140,458,506 (GRCm39) missense probably damaging 1.00
R5063:Padi6 UTSW 4 140,469,191 (GRCm39) missense probably benign 0.01
R5382:Padi6 UTSW 4 140,458,521 (GRCm39) missense probably damaging 1.00
R5408:Padi6 UTSW 4 140,454,996 (GRCm39) missense probably damaging 1.00
R5604:Padi6 UTSW 4 140,458,473 (GRCm39) missense probably damaging 0.96
R5790:Padi6 UTSW 4 140,459,569 (GRCm39) missense probably damaging 1.00
R7084:Padi6 UTSW 4 140,468,869 (GRCm39) nonsense probably null
R7533:Padi6 UTSW 4 140,458,506 (GRCm39) missense probably damaging 1.00
R7581:Padi6 UTSW 4 140,456,240 (GRCm39) missense probably benign 0.01
R7662:Padi6 UTSW 4 140,456,306 (GRCm39) missense probably benign 0.00
R7766:Padi6 UTSW 4 140,458,286 (GRCm39) missense probably benign 0.02
R7872:Padi6 UTSW 4 140,455,073 (GRCm39) missense probably damaging 1.00
R8333:Padi6 UTSW 4 140,464,687 (GRCm39) missense probably damaging 1.00
R8347:Padi6 UTSW 4 140,462,719 (GRCm39) missense probably benign 0.00
R8550:Padi6 UTSW 4 140,460,014 (GRCm39) missense probably benign 0.15
R8979:Padi6 UTSW 4 140,466,474 (GRCm39) missense probably benign 0.03
R9628:Padi6 UTSW 4 140,464,626 (GRCm39) missense probably damaging 1.00
RF007:Padi6 UTSW 4 140,457,054 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07