Incidental Mutation 'IGL03008:Pdxdc1'
ID407623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdxdc1
Ensembl Gene ENSMUSG00000022680
Gene Namepyridoxal-dependent decarboxylase domain containing 1
Synonyms2210010A19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #IGL03008
Quality Score
Status
Chromosome16
Chromosomal Location13833148-13903131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13876159 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 133 (N133S)
Ref Sequence ENSEMBL: ENSMUSP00000111468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023361] [ENSMUST00000115802] [ENSMUST00000115803] [ENSMUST00000115804]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023361
AA Change: N133S

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023361
Gene: ENSMUSG00000022680
AA Change: N133S

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 possibly damaging
Transcript: ENSMUST00000115802
AA Change: N133S

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111468
Gene: ENSMUSG00000022680
AA Change: N133S

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 153 316 1.8e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115803
AA Change: N133S

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111469
Gene: ENSMUSG00000022680
AA Change: N133S

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 190 293 1.4e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115804
AA Change: N133S

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111471
Gene: ENSMUSG00000022680
AA Change: N133S

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: ENSMUST00000139859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154150
Coding Region Coverage
Validation Efficiency
MGI Phenotype Homozygous mutant mice exhibit behavioral and learning defects including abnormal spontaneous activity, impaired spatial memory, and reduced exploratory activity in the presence of conspecifics.,NO_PHENOTYPE
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T G 5: 107,491,598 probably null Het
AF529169 A G 9: 89,596,678 Y772H probably damaging Het
Aga T C 8: 53,511,826 S8P probably benign Het
Ankrd34c C T 9: 89,730,284 M1I probably null Het
Ankrd44 T C 1: 54,766,809 H146R probably damaging Het
Bst1 A G 5: 43,826,262 probably null Het
Cdh12 A T 15: 21,480,330 I211F probably damaging Het
Cenpj G T 14: 56,526,949 D1335E probably benign Het
Clpx G A 9: 65,322,775 V502I possibly damaging Het
Cntnap4 T C 8: 112,773,590 S505P probably benign Het
Cog2 T C 8: 124,535,392 probably benign Het
Cped1 A G 6: 22,233,602 Q819R probably benign Het
Cspg4 A G 9: 56,898,475 E2190G possibly damaging Het
Ctsa G A 2: 164,837,448 R359Q probably damaging Het
Cul9 A G 17: 46,502,697 probably benign Het
Dab1 G T 4: 104,727,580 V306F probably damaging Het
Dysf A G 6: 84,073,894 I438V probably benign Het
Eif4g3 G T 4: 138,120,388 G380W probably damaging Het
Exd1 T A 2: 119,520,381 K466N probably benign Het
Eya3 A C 4: 132,706,983 D325A probably damaging Het
Fmn1 A G 2: 113,365,100 T382A unknown Het
Fry T A 5: 150,345,556 D106E possibly damaging Het
Gm21957 T A 7: 125,219,561 noncoding transcript Het
Gm44511 A G 6: 128,784,096 probably benign Het
Gm884 T C 11: 103,620,467 E225G unknown Het
Itga4 A G 2: 79,325,638 I983V probably benign Het
Lrpprc A T 17: 84,751,247 D5E probably benign Het
Ltbp4 G T 7: 27,324,364 N747K probably damaging Het
Mlh3 T C 12: 85,240,851 Q1308R probably benign Het
Mtfr2 T A 10: 20,353,439 C63S possibly damaging Het
Myh11 T A 16: 14,204,753 M1661L probably benign Het
Myo1c T C 11: 75,658,414 M137T probably benign Het
Myocd A C 11: 65,187,566 L340V probably damaging Het
Napsa A T 7: 44,585,796 Q335L possibly damaging Het
Nlrp4b C A 7: 10,714,589 Q240K probably benign Het
Npepps A C 11: 97,238,158 F400C probably damaging Het
Nxpe4 A T 9: 48,393,438 E275V probably benign Het
Ofd1 T C X: 166,409,534 D501G probably benign Het
Olfr1310 A G 2: 112,008,523 I221T possibly damaging Het
Olfr228 A T 2: 86,483,334 M136K probably damaging Het
Olfr507 T G 7: 108,622,283 L157R probably damaging Het
Olfr525 T C 7: 140,323,532 Y278H probably damaging Het
P2ry1 A T 3: 61,003,526 T29S probably benign Het
Papss1 T C 3: 131,585,099 V201A possibly damaging Het
Paxip1 A G 5: 27,752,766 V864A probably benign Het
Pcdhgc5 T A 18: 37,821,834 H720Q probably benign Het
Prkar1a T C 11: 109,653,864 I27T probably damaging Het
Rnf10 G T 5: 115,251,296 H271N possibly damaging Het
Scn9a A G 2: 66,562,511 S246P probably damaging Het
Sertad2 G T 11: 20,647,798 probably benign Het
Slc22a27 A G 19: 7,909,702 I274T possibly damaging Het
Slc22a5 A T 11: 53,891,232 V103E probably damaging Het
Slc5a9 A T 4: 111,890,941 F225I probably benign Het
Slc6a3 G A 13: 73,558,285 probably null Het
Smcr8 A G 11: 60,778,461 E145G probably damaging Het
Spen A T 4: 141,476,137 D1726E possibly damaging Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stag1 A T 9: 100,776,791 N144Y probably damaging Het
Strada T C 11: 106,170,957 H156R probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tas2r138 A C 6: 40,613,182 D43E probably damaging Het
Tdpoz3 A T 3: 93,826,335 K106* probably null Het
Trbv13-1 A G 6: 41,116,295 D54G probably damaging Het
Ttc39b A G 4: 83,247,695 V218A probably benign Het
Ttn G A 2: 76,780,859 T15697I probably damaging Het
Ugt2b38 G A 5: 87,412,423 T344I probably benign Het
Vmn2r94 T C 17: 18,257,646 M168V probably benign Het
Wdr11 T C 7: 129,606,991 probably benign Het
Wipf2 T C 11: 98,892,728 probably benign Het
Zranb2 T A 3: 157,546,665 probably null Het
Other mutations in Pdxdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Pdxdc1 APN 16 13859152 missense probably damaging 1.00
IGL02101:Pdxdc1 APN 16 13869856 missense probably damaging 0.99
IGL02484:Pdxdc1 APN 16 13876081 missense possibly damaging 0.94
IGL02523:Pdxdc1 APN 16 13881935 missense probably damaging 1.00
IGL02560:Pdxdc1 APN 16 13839732 missense probably benign 0.00
IGL02884:Pdxdc1 APN 16 13843795 missense possibly damaging 0.86
IGL03162:Pdxdc1 APN 16 13857417 missense probably damaging 0.99
IGL02991:Pdxdc1 UTSW 16 13857396 missense probably damaging 1.00
PIT4472001:Pdxdc1 UTSW 16 13845345 missense probably damaging 1.00
R0015:Pdxdc1 UTSW 16 13887683 splice site probably benign
R0240:Pdxdc1 UTSW 16 13879445 missense probably damaging 1.00
R0240:Pdxdc1 UTSW 16 13879445 missense probably damaging 1.00
R0432:Pdxdc1 UTSW 16 13854400 missense probably damaging 0.97
R0846:Pdxdc1 UTSW 16 13854393 critical splice donor site probably null
R0944:Pdxdc1 UTSW 16 13838369 missense probably damaging 1.00
R0945:Pdxdc1 UTSW 16 13857432 missense probably damaging 1.00
R1118:Pdxdc1 UTSW 16 13879414 splice site probably benign
R1726:Pdxdc1 UTSW 16 13838300 critical splice donor site probably null
R2425:Pdxdc1 UTSW 16 13879508 missense possibly damaging 0.90
R3890:Pdxdc1 UTSW 16 13836448 missense probably benign
R4452:Pdxdc1 UTSW 16 13837126 missense possibly damaging 0.55
R4516:Pdxdc1 UTSW 16 13838346 nonsense probably null
R4938:Pdxdc1 UTSW 16 13876069 missense probably benign 0.03
R5352:Pdxdc1 UTSW 16 13840311 missense probably benign 0.01
R5554:Pdxdc1 UTSW 16 13872499 missense probably benign 0.01
R7300:Pdxdc1 UTSW 16 13879510 missense probably damaging 0.99
R7356:Pdxdc1 UTSW 16 13860003 missense probably damaging 1.00
Z1176:Pdxdc1 UTSW 16 13903043 unclassified probably benign
Posted On2016-08-02