Incidental Mutation 'IGL01068:Ppt1'
ID 50846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppt1
Ensembl Gene ENSMUSG00000028657
Gene Name palmitoyl-protein thioesterase 1
Synonyms CLN1, D4Ertd184e, 9530043G02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01068
Quality Score
Chromosome 4
Chromosomal Location 122836242-122859175 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122844007 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 46 (C46Y)
Ref Sequence ENSEMBL: ENSMUSP00000113367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030412] [ENSMUST00000097902] [ENSMUST00000120157] [ENSMUST00000121870]
AlphaFold O88531
Predicted Effect possibly damaging
Transcript: ENSMUST00000030412
AA Change: C46Y

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030412
Gene: ENSMUSG00000028657
AA Change: C46Y

signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 306 3.6e-208 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097902
AA Change: C46Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095512
Gene: ENSMUSG00000028657
AA Change: C46Y

signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 188 4e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120157
SMART Domains Protein: ENSMUSP00000113258
Gene: ENSMUSG00000028657

signal peptide 1 25 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121870
AA Change: C46Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113367
Gene: ENSMUSG00000028657
AA Change: C46Y

signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 179 6e-108 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,504,175 probably benign Het
Adgra1 A G 7: 139,845,625 E18G probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Atg16l1 C T 1: 87,774,824 S269L probably damaging Het
Atp8a1 A G 5: 67,667,337 V853A probably benign Het
Bicral T C 17: 46,825,391 I298V probably damaging Het
Cad A G 5: 31,061,770 probably benign Het
Chd9 A T 8: 91,042,116 Y2448F probably benign Het
Clstn3 A G 6: 124,462,139 L16S probably damaging Het
Cmtr2 G A 8: 110,222,869 V604M possibly damaging Het
Ctcf A T 8: 105,681,485 probably benign Het
Eif2ak2 A G 17: 78,865,371 I295T probably damaging Het
Foxm1 G A 6: 128,370,967 R284H possibly damaging Het
Gabra2 T C 5: 70,962,072 I362M probably benign Het
Hivep1 C A 13: 42,159,984 P1900Q probably benign Het
Klhl25 G T 7: 75,866,149 E268* probably null Het
Klk1b16 T C 7: 44,140,678 L124P probably damaging Het
Ltf A T 9: 111,035,812 probably null Het
Mpped2 T A 2: 106,864,746 H248Q probably damaging Het
Mrpl1 T A 5: 96,224,036 probably benign Het
Mthfd1l T A 10: 4,028,428 S429R probably damaging Het
Myl2 G A 5: 122,106,704 V146I probably benign Het
Myo10 T A 15: 25,739,309 I527N possibly damaging Het
Ncoa3 T C 2: 166,052,795 S333P probably damaging Het
Olfr1297 T G 2: 111,621,340 T245P probably damaging Het
Olfr350 T G 2: 36,850,270 S75A probably damaging Het
Oxct1 T C 15: 4,053,764 F155S probably damaging Het
P4ha1 T C 10: 59,339,335 V39A probably damaging Het
Padi6 G T 4: 140,730,953 T514N possibly damaging Het
Pgm1 G A 5: 64,107,796 V387I probably damaging Het
Rnf225 T C 7: 12,928,900 probably benign Het
Rpl26 T C 11: 68,902,398 Y42H probably benign Het
Rundc1 A G 11: 101,434,142 N558S probably damaging Het
Sema3e T G 5: 14,233,718 probably null Het
Slc8a1 T C 17: 81,388,942 I888V probably benign Het
Thsd7b T C 1: 129,596,146 C306R probably damaging Het
Tmem209 A C 6: 30,502,086 L197R probably benign Het
Tmem38b T G 4: 53,849,024 V119G probably damaging Het
Trpc1 T C 9: 95,726,494 D82G probably damaging Het
Zfp292 A G 4: 34,806,763 F2094L probably damaging Het
Zfp638 C T 6: 83,934,994 R453W probably damaging Het
Other mutations in Ppt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Ppt1 APN 4 122844055 missense probably damaging 0.98
IGL01511:Ppt1 APN 4 122854425 missense probably damaging 0.99
IGL01719:Ppt1 APN 4 122844067 missense probably damaging 1.00
R0008:Ppt1 UTSW 4 122848423 splice site probably benign
R0008:Ppt1 UTSW 4 122848423 splice site probably benign
R0646:Ppt1 UTSW 4 122844099 missense probably benign
R1542:Ppt1 UTSW 4 122857609 missense probably benign
R1938:Ppt1 UTSW 4 122845991 missense probably damaging 1.00
R3103:Ppt1 UTSW 4 122836307 missense probably benign 0.00
R4862:Ppt1 UTSW 4 122844449 missense probably damaging 1.00
R7659:Ppt1 UTSW 4 122836333 missense probably benign 0.01
R7753:Ppt1 UTSW 4 122836338 missense possibly damaging 0.50
R9483:Ppt1 UTSW 4 122857574 missense possibly damaging 0.58
X0020:Ppt1 UTSW 4 122844434 missense possibly damaging 0.87
X0035:Ppt1 UTSW 4 122848518 frame shift probably null
Posted On 2013-06-21