Incidental Mutation 'IGL01719:Ppt1'
ID 105035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppt1
Ensembl Gene ENSMUSG00000028657
Gene Name palmitoyl-protein thioesterase 1
Synonyms CLN1, 9530043G02Rik, D4Ertd184e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01719
Quality Score
Status
Chromosome 4
Chromosomal Location 122730035-122752968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122737860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 66 (Y66C)
Ref Sequence ENSEMBL: ENSMUSP00000113367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030412] [ENSMUST00000097902] [ENSMUST00000120157] [ENSMUST00000121870]
AlphaFold O88531
Predicted Effect probably damaging
Transcript: ENSMUST00000030412
AA Change: Y66C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030412
Gene: ENSMUSG00000028657
AA Change: Y66C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 306 3.6e-208 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097902
AA Change: Y66C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095512
Gene: ENSMUSG00000028657
AA Change: Y66C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121870
AA Change: Y66C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113367
Gene: ENSMUSG00000028657
AA Change: Y66C

DomainStartEndE-ValueType
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Ankk1 A G 9: 49,328,081 (GRCm39) V366A probably benign Het
Antxr2 C T 5: 98,096,132 (GRCm39) R384Q possibly damaging Het
Cdh13 G A 8: 119,401,927 (GRCm39) V110M probably benign Het
Ctnna2 T A 6: 77,613,958 (GRCm39) K198* probably null Het
Dpf3 C A 12: 83,341,207 (GRCm39) S223I probably damaging Het
Galnt5 A G 2: 57,888,555 (GRCm39) R52G probably damaging Het
Gm4787 G A 12: 81,423,948 (GRCm39) R737C possibly damaging Het
Grin2b T A 6: 135,710,379 (GRCm39) I1056F probably damaging Het
H2al2a T A 2: 18,001,446 (GRCm39) H80L probably damaging Het
Hipk3 T C 2: 104,267,434 (GRCm39) H601R possibly damaging Het
Hivep2 T C 10: 14,006,267 (GRCm39) L955P probably damaging Het
Jund C T 8: 71,151,885 (GRCm39) A60V possibly damaging Het
Klhdc7a A G 4: 139,693,861 (GRCm39) L362P probably damaging Het
Lpar5 T G 6: 125,058,969 (GRCm39) V230G possibly damaging Het
Lrba C T 3: 86,234,903 (GRCm39) probably benign Het
Or11g24 T C 14: 50,662,018 (GRCm39) F14S possibly damaging Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Plekha5 A C 6: 140,515,855 (GRCm39) E702D probably damaging Het
S1pr5 C A 9: 21,155,250 (GRCm39) R392L probably benign Het
Slc37a2 T C 9: 37,145,474 (GRCm39) T410A probably damaging Het
St18 A G 1: 6,916,020 (GRCm39) probably benign Het
Taar7d T A 10: 23,903,865 (GRCm39) M249K probably benign Het
Vwa5b2 T C 16: 20,416,183 (GRCm39) probably null Het
Zan T A 5: 137,393,916 (GRCm39) T4512S unknown Het
Other mutations in Ppt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Ppt1 APN 4 122,737,800 (GRCm39) missense probably damaging 1.00
IGL01346:Ppt1 APN 4 122,737,848 (GRCm39) missense probably damaging 0.98
IGL01511:Ppt1 APN 4 122,748,218 (GRCm39) missense probably damaging 0.99
R0008:Ppt1 UTSW 4 122,742,216 (GRCm39) splice site probably benign
R0008:Ppt1 UTSW 4 122,742,216 (GRCm39) splice site probably benign
R0646:Ppt1 UTSW 4 122,737,892 (GRCm39) missense probably benign
R1542:Ppt1 UTSW 4 122,751,402 (GRCm39) missense probably benign
R1938:Ppt1 UTSW 4 122,739,784 (GRCm39) missense probably damaging 1.00
R3103:Ppt1 UTSW 4 122,730,100 (GRCm39) missense probably benign 0.00
R4862:Ppt1 UTSW 4 122,738,242 (GRCm39) missense probably damaging 1.00
R7659:Ppt1 UTSW 4 122,730,126 (GRCm39) missense probably benign 0.01
R7753:Ppt1 UTSW 4 122,730,131 (GRCm39) missense possibly damaging 0.50
R9483:Ppt1 UTSW 4 122,751,367 (GRCm39) missense possibly damaging 0.58
X0020:Ppt1 UTSW 4 122,738,227 (GRCm39) missense possibly damaging 0.87
X0035:Ppt1 UTSW 4 122,742,311 (GRCm39) frame shift probably null
Posted On 2014-01-21