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, 9530043G02Rik, D4Ertd184e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01068
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
122730035-122752968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 122737800 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,153,599 (GRCm39) |
|
probably benign |
Het |
| Adgra1 |
A |
G |
7: 139,425,541 (GRCm39) |
E18G |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Atg16l1 |
C |
T |
1: 87,702,546 (GRCm39) |
S269L |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,824,680 (GRCm39) |
V853A |
probably benign |
Het |
| Bicral |
T |
C |
17: 47,136,317 (GRCm39) |
I298V |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,219,114 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,768,744 (GRCm39) |
Y2448F |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,439,098 (GRCm39) |
L16S |
probably damaging |
Het |
| Cmtr2 |
G |
A |
8: 110,949,501 (GRCm39) |
V604M |
possibly damaging |
Het |
| Ctcf |
A |
T |
8: 106,408,117 (GRCm39) |
|
probably benign |
Het |
| Eif2ak2 |
A |
G |
17: 79,172,800 (GRCm39) |
I295T |
probably damaging |
Het |
| Foxm1 |
G |
A |
6: 128,347,930 (GRCm39) |
R284H |
possibly damaging |
Het |
| Gabra2 |
T |
C |
5: 71,119,415 (GRCm39) |
I362M |
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,313,460 (GRCm39) |
P1900Q |
probably benign |
Het |
| Klhl25 |
G |
T |
7: 75,515,897 (GRCm39) |
E268* |
probably null |
Het |
| Klk1b16 |
T |
C |
7: 43,790,102 (GRCm39) |
L124P |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,864,880 (GRCm39) |
|
probably null |
Het |
| Mpped2 |
T |
A |
2: 106,695,091 (GRCm39) |
H248Q |
probably damaging |
Het |
| Mrpl1 |
T |
A |
5: 96,371,895 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,978,428 (GRCm39) |
S429R |
probably damaging |
Het |
| Myl2 |
G |
A |
5: 122,244,767 (GRCm39) |
V146I |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,739,395 (GRCm39) |
I527N |
possibly damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,894,715 (GRCm39) |
S333P |
probably damaging |
Het |
| Or1j4 |
T |
G |
2: 36,740,282 (GRCm39) |
S75A |
probably damaging |
Het |
| Or4k47 |
T |
G |
2: 111,451,685 (GRCm39) |
T245P |
probably damaging |
Het |
| Oxct1 |
T |
C |
15: 4,083,246 (GRCm39) |
F155S |
probably damaging |
Het |
| P4ha1 |
T |
C |
10: 59,175,157 (GRCm39) |
V39A |
probably damaging |
Het |
| Padi6 |
G |
T |
4: 140,458,264 (GRCm39) |
T514N |
possibly damaging |
Het |
| Pgm2 |
G |
A |
5: 64,265,139 (GRCm39) |
V387I |
probably damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,827 (GRCm39) |
|
probably benign |
Het |
| Rpl26 |
T |
C |
11: 68,793,224 (GRCm39) |
Y42H |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,324,968 (GRCm39) |
N558S |
probably damaging |
Het |
| Sema3e |
T |
G |
5: 14,283,732 (GRCm39) |
|
probably null |
Het |
| Slc8a1 |
T |
C |
17: 81,696,371 (GRCm39) |
I888V |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,523,883 (GRCm39) |
C306R |
probably damaging |
Het |
| Tmem209 |
A |
C |
6: 30,502,085 (GRCm39) |
L197R |
probably benign |
Het |
| Tmem38b |
T |
G |
4: 53,849,024 (GRCm39) |
V119G |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,608,547 (GRCm39) |
D82G |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,806,763 (GRCm39) |
F2094L |
probably damaging |
Het |
| Zfp638 |
C |
T |
6: 83,911,976 (GRCm39) |
R453W |
probably damaging |
Het |
|
| Other mutations in Ppt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation