Incidental Mutation 'IGL00338:Zdhhc8'
| ID |
3997 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zdhhc8
|
| Ensembl Gene |
ENSMUSG00000060166 |
| Gene Name |
zinc finger, DHHC domain containing 8 |
| Synonyms |
Op53c05, E330009O14Rik, D16H22S1738E |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.701)
|
| Stock # |
IGL00338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
18038617-18053000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18043060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 380
(L380P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076957]
[ENSMUST00000231369]
[ENSMUST00000231860]
[ENSMUST00000231965]
|
| AlphaFold |
Q5Y5T5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076957
AA Change: L380P
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: L380P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
99 |
224 |
4.8e-36 |
PFAM |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
644 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231369
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231965
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null females display impaired prepulse inhibition and reduced exploration in new environments. Homozygous null males display normal prepulse inhibition and only a slight decrease in exploration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
A |
G |
5: 135,040,839 (GRCm39) |
D217G |
probably benign |
Het |
| Ankar |
T |
A |
1: 72,729,290 (GRCm39) |
Y285F |
probably damaging |
Het |
| Ano8 |
C |
A |
8: 71,936,902 (GRCm39) |
|
probably benign |
Het |
| Bche |
A |
G |
3: 73,608,640 (GRCm39) |
V262A |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,721,964 (GRCm39) |
|
probably benign |
Het |
| Cd244a |
T |
A |
1: 171,401,938 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
T |
C |
2: 32,671,395 (GRCm39) |
D137G |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,325,813 (GRCm39) |
R119G |
possibly damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gp2 |
A |
G |
7: 119,053,613 (GRCm39) |
M116T |
probably damaging |
Het |
| Gp5 |
C |
A |
16: 30,127,640 (GRCm39) |
A345S |
probably benign |
Het |
| Gphn |
A |
T |
12: 78,551,406 (GRCm39) |
I285F |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,867,040 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,296,434 (GRCm39) |
N3654K |
possibly damaging |
Het |
| Inpp5b |
A |
G |
4: 124,678,168 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Or4a47 |
A |
T |
2: 89,665,802 (GRCm39) |
Y162* |
probably null |
Het |
| Pphln1 |
A |
G |
15: 93,363,091 (GRCm39) |
K306E |
probably damaging |
Het |
| Rnf26 |
A |
C |
9: 44,024,156 (GRCm39) |
S31A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,001,907 (GRCm39) |
S1072T |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,065,643 (GRCm39) |
W304R |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,007,579 (GRCm39) |
F277L |
possibly damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,760,340 (GRCm39) |
L468I |
probably benign |
Het |
| Tchh |
C |
T |
3: 93,354,951 (GRCm39) |
L1464F |
unknown |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,409 (GRCm39) |
S288P |
probably damaging |
Het |
| Usp17lc |
A |
G |
7: 103,068,148 (GRCm39) |
H481R |
possibly damaging |
Het |
| Vps50 |
C |
T |
6: 3,602,670 (GRCm39) |
T929M |
probably benign |
Het |
|
| Other mutations in Zdhhc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01994:Zdhhc8
|
APN |
16 |
18,045,636 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02102:Zdhhc8
|
APN |
16 |
18,043,063 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02706:Zdhhc8
|
APN |
16 |
18,042,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03287:Zdhhc8
|
APN |
16 |
18,042,964 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03296:Zdhhc8
|
APN |
16 |
18,044,587 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0066:Zdhhc8
|
UTSW |
16 |
18,043,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0066:Zdhhc8
|
UTSW |
16 |
18,043,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0491:Zdhhc8
|
UTSW |
16 |
18,046,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0838:Zdhhc8
|
UTSW |
16 |
18,042,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1567:Zdhhc8
|
UTSW |
16 |
18,044,984 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2057:Zdhhc8
|
UTSW |
16 |
18,046,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Zdhhc8
|
UTSW |
16 |
18,044,587 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4690:Zdhhc8
|
UTSW |
16 |
18,044,605 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4902:Zdhhc8
|
UTSW |
16 |
18,045,030 (GRCm39) |
missense |
probably benign |
|
|
R5111:Zdhhc8
|
UTSW |
16 |
18,044,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5825:Zdhhc8
|
UTSW |
16 |
18,046,538 (GRCm39) |
missense |
probably null |
0.99 |
|
R6111:Zdhhc8
|
UTSW |
16 |
18,042,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Zdhhc8
|
UTSW |
16 |
18,041,202 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7296:Zdhhc8
|
UTSW |
16 |
18,052,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7450:Zdhhc8
|
UTSW |
16 |
18,043,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7540:Zdhhc8
|
UTSW |
16 |
18,045,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Zdhhc8
|
UTSW |
16 |
18,041,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:Zdhhc8
|
UTSW |
16 |
18,042,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Zdhhc8
|
UTSW |
16 |
18,039,558 (GRCm39) |
missense |
|
|
|
R9520:Zdhhc8
|
UTSW |
16 |
18,045,044 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation