Incidental Mutation 'IGL01346:Ppt1'
ID 75053
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 # IGL01346
Quality Score
Status
Chromosome 4
Chromosomal Location 122730035-122752968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122737848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 62 (I62K)
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: I62K

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030412
Gene: ENSMUSG00000028657
AA Change: I62K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 306 3.6e-208 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097902
AA Change: I62K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095512
Gene: ENSMUSG00000028657
AA Change: I62K

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: I62K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113367
Gene: ENSMUSG00000028657
AA Change: I62K

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null Het
Other mutations in Ppt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Ppt1 APN 4 122,737,800 (GRCm39) missense probably damaging 1.00
IGL01511:Ppt1 APN 4 122,748,218 (GRCm39) missense probably damaging 0.99
IGL01719:Ppt1 APN 4 122,737,860 (GRCm39) missense probably damaging 1.00
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 2013-10-07