Incidental Mutation 'IGL02523:Pdxdc1'
ID 296951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdxdc1
Ensembl Gene ENSMUSG00000022680
Gene Name pyridoxal-dependent decarboxylase domain containing 1
Synonyms 2210010A19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # IGL02523
Quality Score
Status
Chromosome 16
Chromosomal Location 13651012-13720995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13699799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 62 (L62H)
Ref Sequence ENSEMBL: ENSMUSP00000111471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023361] [ENSMUST00000115802] [ENSMUST00000115803] [ENSMUST00000115804]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023361
AA Change: L62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023361
Gene: ENSMUSG00000022680
AA Change: L62H

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 166 310 2.6e-12 PFAM
coiled coil region 610 631 N/A INTRINSIC
low complexity region 683 695 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115802
AA Change: L62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111468
Gene: ENSMUSG00000022680
AA Change: L62H

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 153 316 1.8e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115803
AA Change: L62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111469
Gene: ENSMUSG00000022680
AA Change: L62H

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 190 293 1.4e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115804
AA Change: L62H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111471
Gene: ENSMUSG00000022680
AA Change: L62H

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 154 308 5.5e-15 PFAM
coiled coil region 610 631 N/A INTRINSIC
low complexity region 683 695 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154150
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 T C 8: 41,804,984 (GRCm39) D109G probably benign Het
Ces2c C A 8: 105,574,746 (GRCm39) P68T probably damaging Het
Csl G A 10: 99,594,675 (GRCm39) T130I probably benign Het
Cyp2g1 C T 7: 26,518,612 (GRCm39) R376W probably damaging Het
Ddb1 T C 19: 10,604,996 (GRCm39) L1029P probably damaging Het
Dennd4c T C 4: 86,692,490 (GRCm39) probably benign Het
Eya2 C T 2: 165,596,356 (GRCm39) probably benign Het
Fars2 G T 13: 36,388,676 (GRCm39) G55V probably damaging Het
Fcgbp C A 7: 27,804,157 (GRCm39) A1755E possibly damaging Het
Ggt7 T A 2: 155,356,623 (GRCm39) E32V probably damaging Het
Heg1 C A 16: 33,558,992 (GRCm39) T1071K probably damaging Het
Hpca A G 4: 129,012,368 (GRCm39) F56S probably damaging Het
Hyal4 T A 6: 24,765,968 (GRCm39) Y441N probably damaging Het
Igsf8 T A 1: 172,146,980 (GRCm39) probably benign Het
Ints13 A G 6: 146,459,109 (GRCm39) S301P probably benign Het
Krt33a G A 11: 99,902,518 (GRCm39) T374I probably benign Het
Nav3 T C 10: 109,605,157 (GRCm39) D972G probably damaging Het
Npc1 T C 18: 12,334,629 (GRCm39) T708A probably benign Het
Or10ag52 A T 2: 87,043,664 (GRCm39) N143Y probably benign Het
Or13p10 A T 4: 118,523,238 (GRCm39) N175Y probably benign Het
Or1l8 T C 2: 36,817,967 (GRCm39) D53G probably damaging Het
Or6d14 A T 6: 116,534,054 (GRCm39) I223L probably benign Het
P2rx2 A G 5: 110,489,908 (GRCm39) S87P probably damaging Het
Plekhj1 A T 10: 80,633,683 (GRCm39) probably null Het
Ptbp2 A T 3: 119,534,136 (GRCm39) Y244* probably null Het
Ralbp1 T C 17: 66,166,086 (GRCm39) E366G probably damaging Het
Rergl T A 6: 139,473,458 (GRCm39) probably benign Het
Slc25a45 T A 19: 5,934,637 (GRCm39) probably null Het
Spop G A 11: 95,376,747 (GRCm39) D267N possibly damaging Het
Tars2 T C 3: 95,648,705 (GRCm39) D625G probably damaging Het
Tlk2 A G 11: 105,166,773 (GRCm39) K593R probably damaging Het
Tlr3 T A 8: 45,851,428 (GRCm39) probably null Het
Tmem205 C T 9: 21,832,584 (GRCm39) R109H probably benign Het
Tmem41b A G 7: 109,581,935 (GRCm39) I56T probably damaging Het
Ube2q2 T C 9: 55,099,163 (GRCm39) V168A probably damaging Het
Ufsp2 T A 8: 46,436,585 (GRCm39) M112K probably damaging Het
Wipi2 T A 5: 142,646,787 (GRCm39) V208E probably damaging Het
Xkr9 A G 1: 13,754,474 (GRCm39) E156G probably benign Het
Other mutations in Pdxdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Pdxdc1 APN 16 13,677,016 (GRCm39) missense probably damaging 1.00
IGL02101:Pdxdc1 APN 16 13,687,720 (GRCm39) missense probably damaging 0.99
IGL02484:Pdxdc1 APN 16 13,693,945 (GRCm39) missense possibly damaging 0.94
IGL02560:Pdxdc1 APN 16 13,657,596 (GRCm39) missense probably benign 0.00
IGL02884:Pdxdc1 APN 16 13,661,659 (GRCm39) missense possibly damaging 0.86
IGL03008:Pdxdc1 APN 16 13,694,023 (GRCm39) missense possibly damaging 0.81
IGL03162:Pdxdc1 APN 16 13,675,281 (GRCm39) missense probably damaging 0.99
IGL02991:Pdxdc1 UTSW 16 13,675,260 (GRCm39) missense probably damaging 1.00
PIT4472001:Pdxdc1 UTSW 16 13,663,209 (GRCm39) missense probably damaging 1.00
R0015:Pdxdc1 UTSW 16 13,705,547 (GRCm39) splice site probably benign
R0240:Pdxdc1 UTSW 16 13,697,309 (GRCm39) missense probably damaging 1.00
R0240:Pdxdc1 UTSW 16 13,697,309 (GRCm39) missense probably damaging 1.00
R0432:Pdxdc1 UTSW 16 13,672,264 (GRCm39) missense probably damaging 0.97
R0846:Pdxdc1 UTSW 16 13,672,257 (GRCm39) critical splice donor site probably null
R0944:Pdxdc1 UTSW 16 13,656,233 (GRCm39) missense probably damaging 1.00
R0945:Pdxdc1 UTSW 16 13,675,296 (GRCm39) missense probably damaging 1.00
R1118:Pdxdc1 UTSW 16 13,697,278 (GRCm39) splice site probably benign
R1726:Pdxdc1 UTSW 16 13,656,164 (GRCm39) critical splice donor site probably null
R2425:Pdxdc1 UTSW 16 13,697,372 (GRCm39) missense possibly damaging 0.90
R3890:Pdxdc1 UTSW 16 13,654,312 (GRCm39) missense probably benign
R4452:Pdxdc1 UTSW 16 13,654,990 (GRCm39) missense possibly damaging 0.55
R4516:Pdxdc1 UTSW 16 13,656,210 (GRCm39) nonsense probably null
R4938:Pdxdc1 UTSW 16 13,693,933 (GRCm39) missense probably benign 0.03
R5352:Pdxdc1 UTSW 16 13,658,175 (GRCm39) missense probably benign 0.01
R5554:Pdxdc1 UTSW 16 13,690,363 (GRCm39) missense probably benign 0.01
R7300:Pdxdc1 UTSW 16 13,697,374 (GRCm39) missense probably damaging 0.99
R7356:Pdxdc1 UTSW 16 13,677,867 (GRCm39) missense probably damaging 1.00
R7963:Pdxdc1 UTSW 16 13,694,030 (GRCm39) missense possibly damaging 0.93
R8930:Pdxdc1 UTSW 16 13,672,269 (GRCm39) missense probably damaging 1.00
R8932:Pdxdc1 UTSW 16 13,672,269 (GRCm39) missense probably damaging 1.00
Z1176:Pdxdc1 UTSW 16 13,720,907 (GRCm39) unclassified probably benign
Posted On 2015-04-16