Incidental Mutation 'IGL01346:Ppt1'
ID75053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppt1
Ensembl Gene ENSMUSG00000028657
Gene Namepalmitoyl-protein thioesterase 1
SynonymsCLN1, D4Ertd184e, 9530043G02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01346
Quality Score
Status
Chromosome4
Chromosomal Location122836242-122859175 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122844055 bp
ZygosityHeterozygous
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]
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: 150,311,060 V135A unknown Het
4930402H24Rik A G 2: 130,791,846 probably benign Het
Cnot4 A T 6: 35,070,248 I143N probably damaging Het
Cnot6l A T 5: 96,086,246 M302K probably damaging Het
Dmxl2 T C 9: 54,415,475 T1542A probably damaging Het
Dnhd1 T C 7: 105,713,909 S3893P probably benign Het
Duox2 A T 2: 122,287,202 probably benign Het
Dusp1 T C 17: 26,506,321 N355D probably benign Het
Fam76b T C 9: 13,829,750 C60R probably damaging Het
Gnptab G A 10: 88,436,179 V944I possibly damaging Het
Gys1 A G 7: 45,442,537 Y249C probably damaging Het
Ift88 A T 14: 57,444,405 E215D probably damaging Het
Kcnu1 T C 8: 25,934,523 probably benign Het
Lmln C A 16: 33,117,120 N618K probably benign Het
Lrrc75a T C 11: 62,605,987 T250A probably damaging Het
Mpp4 A G 1: 59,125,560 S435P probably damaging Het
Myo1c T A 11: 75,672,250 V1036E probably damaging Het
Nlrp12 T G 7: 3,240,686 T399P probably damaging Het
Olfr1223 A G 2: 89,144,231 F264S possibly damaging Het
Olfr1388 A G 11: 49,444,768 R306G probably benign Het
Parp8 A T 13: 116,895,064 C332S possibly damaging Het
Pdcd11 G A 19: 47,109,614 V780I probably benign Het
Plekha5 A G 6: 140,534,566 probably benign Het
Proser3 T C 7: 30,549,646 N7S probably benign Het
Ptk2b A G 14: 66,177,118 L311P possibly damaging Het
Rasal2 T C 1: 157,161,216 N706S probably benign Het
Ripk2 A G 4: 16,132,775 probably null Het
Setx T A 2: 29,144,809 H435Q probably damaging Het
Smurf2 T A 11: 106,830,915 probably benign Het
Snx32 A G 19: 5,497,736 L182P possibly damaging Het
Stpg2 A G 3: 139,419,874 probably benign Het
Taar2 A G 10: 23,941,099 Y179C probably damaging Het
Tenm2 G A 11: 36,027,405 R1843* probably null Het
Tmco4 T C 4: 139,020,949 I280T probably damaging Het
Tuba4a C A 1: 75,217,277 C46F probably damaging Het
Ubr1 A G 2: 120,873,122 probably null Het
Vldlr A T 19: 27,239,681 I45L possibly damaging Het
Vmn2r120 C A 17: 57,545,232 G28V probably benign Het
Vmn2r37 C A 7: 9,206,681 V611L probably benign Het
Vmn2r67 A G 7: 85,136,919 L626P probably damaging Het
Wdr19 C T 5: 65,221,739 probably benign Het
Zfp595 T A 13: 67,316,685 K505* probably null Het
Other mutations in Ppt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Ppt1 APN 4 122844007 missense probably damaging 1.00
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
X0020:Ppt1 UTSW 4 122844434 missense possibly damaging 0.87
X0035:Ppt1 UTSW 4 122848518 frame shift probably null
Posted On2013-10-07