Incidental Mutation 'IGL03287:Zdhhc8'
| ID |
415767 |
| 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 # |
IGL03287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
18038617-18053000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18042964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 412
(Y412C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076957]
[ENSMUST00000231369]
[ENSMUST00000231860]
[ENSMUST00000231965]
|
| AlphaFold |
Q5Y5T5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076957
AA Change: Y412C
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: Y412C
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
T |
5: 115,008,237 (GRCm39) |
D17V |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,854,747 (GRCm39) |
V225E |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,826,802 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
A |
G |
5: 30,645,887 (GRCm39) |
L127P |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,210,476 (GRCm39) |
H140R |
probably damaging |
Het |
| Grm8 |
A |
G |
6: 27,760,254 (GRCm39) |
F359L |
possibly damaging |
Het |
| Kat7 |
A |
T |
11: 95,190,935 (GRCm39) |
D150E |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,299,438 (GRCm39) |
I944T |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,330,218 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,639,982 (GRCm39) |
S1142G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,027,335 (GRCm39) |
Y6889H |
probably damaging |
Het |
| Or10ak13 |
A |
G |
4: 118,639,551 (GRCm39) |
V77A |
possibly damaging |
Het |
| Or1e16 |
A |
T |
11: 73,286,845 (GRCm39) |
M1K |
probably null |
Het |
| Plk4 |
A |
T |
3: 40,759,553 (GRCm39) |
I150L |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,318,844 (GRCm39) |
D1598G |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,963,830 (GRCm39) |
K925E |
probably damaging |
Het |
| Slc25a29 |
A |
T |
12: 108,797,135 (GRCm39) |
F22L |
possibly damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,395,312 (GRCm39) |
T80A |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,855,817 (GRCm39) |
V121A |
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,630 (GRCm39) |
D545E |
possibly damaging |
Het |
| Zmynd12 |
A |
G |
4: 119,310,776 (GRCm39) |
E328G |
probably damaging |
Het |
|
| Other mutations in Zdhhc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Zdhhc8
|
APN |
16 |
18,043,060 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation