Incidental Mutation 'R4862:Ppt1'
| ID |
374586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppt1
|
| Ensembl Gene |
ENSMUSG00000028657 |
| Gene Name |
palmitoyl-protein thioesterase 1 |
| Synonyms |
CLN1, 9530043G02Rik, D4Ertd184e |
| MMRRC Submission |
043260-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4862 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
122730035-122752968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 122738242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 89
(N89T)
|
| 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: N89T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030412
Gene: ENSMUSG00000028657
AA Change: N89T
| 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: N89T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095512
Gene: ENSMUSG00000028657
AA Change: N89T
| 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: N89T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113367
Gene: ENSMUSG00000028657
AA Change: N89T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
28 |
179 |
6e-108 |
PFAM |
|
| Meta Mutation Damage Score |
0.8156 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,747,083 (GRCm39) |
T167A |
probably benign |
Het |
| Aox1 |
T |
G |
1: 58,134,316 (GRCm39) |
D1096E |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,122,721 (GRCm39) |
D1034V |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,097,178 (GRCm39) |
P1307S |
possibly damaging |
Het |
| Chaf1b |
T |
A |
16: 93,684,022 (GRCm39) |
L91Q |
probably damaging |
Het |
| Copb2 |
G |
T |
9: 98,463,320 (GRCm39) |
D512Y |
probably damaging |
Het |
| Daam1 |
A |
G |
12: 71,988,981 (GRCm39) |
E127G |
unknown |
Het |
| Dhx16 |
A |
G |
17: 36,194,154 (GRCm39) |
I422V |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,098,771 (GRCm39) |
V2043I |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,147,717 (GRCm39) |
V971A |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,375,149 (GRCm39) |
S573P |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,633,682 (GRCm39) |
H448R |
probably benign |
Het |
| Fndc1 |
A |
T |
17: 7,988,567 (GRCm39) |
V1165D |
unknown |
Het |
| Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
| Igkv6-13 |
C |
A |
6: 70,434,765 (GRCm39) |
V27L |
probably benign |
Het |
| Krt28 |
A |
T |
11: 99,255,936 (GRCm39) |
I441N |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,298,669 (GRCm39) |
D286E |
probably damaging |
Het |
| Mapkap1 |
A |
G |
2: 34,513,442 (GRCm39) |
Y448C |
probably damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,489 (GRCm39) |
Y173H |
possibly damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,876 (GRCm39) |
V260E |
probably damaging |
Het |
| Prss3b |
T |
G |
6: 41,009,345 (GRCm39) |
D163A |
possibly damaging |
Het |
| Ptgs1 |
G |
T |
2: 36,127,267 (GRCm39) |
R51L |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,204,520 (GRCm39) |
F277S |
possibly damaging |
Het |
| Smcr8 |
A |
G |
11: 60,668,897 (GRCm39) |
E15G |
probably benign |
Het |
| Tbce |
A |
G |
13: 14,173,004 (GRCm39) |
S476P |
possibly damaging |
Het |
| Tmem131l |
A |
T |
3: 83,805,517 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,495,534 (GRCm39) |
Y468H |
probably damaging |
Het |
| Ush1c |
A |
T |
7: 45,878,664 (GRCm39) |
L117H |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,822,860 (GRCm39) |
|
probably null |
Het |
| Zfa-ps |
G |
T |
10: 52,419,192 (GRCm39) |
|
noncoding transcript |
Het |
| Zfat |
C |
A |
15: 68,051,959 (GRCm39) |
A605S |
probably benign |
Het |
| Zfp853 |
T |
A |
5: 143,275,416 (GRCm39) |
Q68L |
unknown |
Het |
| Zfyve16 |
G |
A |
13: 92,644,764 (GRCm39) |
T1146I |
probably damaging |
Het |
|
| Other mutations in Ppt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTATAGCCCCACTGGTTTGG -3'
(R):5'- CTTTCTATGACAGGGGAAGATACC -3'
Sequencing Primer
(F):5'- GCGCTTGAGCTACAGCATTGTC -3'
(R):5'- CCATGTAACAGGTACCATGG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation