Incidental Mutation 'IGL01315:Zdhhc1'
| ID |
73825 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zdhhc1
|
| Ensembl Gene |
ENSMUSG00000039199 |
| Gene Name |
zinc finger, DHHC domain containing 1 |
| Synonyms |
4432412D04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106199055-106223534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106199630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 389
(R389S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014990]
[ENSMUST00000044286]
[ENSMUST00000176419]
[ENSMUST00000177126]
[ENSMUST00000212303]
|
| AlphaFold |
Q8R0N9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014990
|
| SMART Domains |
Protein: ENSMUSP00000014990
Gene: ENSMUSG00000014846
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p25-alpha
|
11 |
172 |
1.2e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044286
AA Change: R389S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036471
Gene: ENSMUSG00000039199
AA Change: R389S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
126 |
282 |
2.5e-38 |
PFAM |
|
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176419
|
| SMART Domains |
Protein: ENSMUSP00000134807
Gene: ENSMUSG00000014846
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p25-alpha
|
10 |
174 |
9e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177126
|
| SMART Domains |
Protein: ENSMUSP00000135040
Gene: ENSMUSG00000014846
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p25-alpha
|
10 |
174 |
9e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212109
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212303
AA Change: R389S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
T |
C |
5: 31,050,578 (GRCm39) |
S409P |
probably benign |
Het |
| Ankdd1a |
T |
A |
9: 65,415,984 (GRCm39) |
H187L |
probably damaging |
Het |
| Ap2a1 |
A |
T |
7: 44,565,713 (GRCm39) |
D51E |
possibly damaging |
Het |
| Ccn3 |
T |
C |
15: 54,612,656 (GRCm39) |
S222P |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,985 (GRCm39) |
|
probably benign |
Het |
| Eif3h |
T |
C |
15: 51,705,881 (GRCm39) |
D91G |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,910,351 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,375,194 (GRCm39) |
V551A |
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,274,301 (GRCm39) |
S354P |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,841,993 (GRCm39) |
F140L |
probably damaging |
Het |
| Hnmt |
A |
G |
2: 23,909,180 (GRCm39) |
Y78H |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,234,972 (GRCm39) |
H396L |
unknown |
Het |
| Krt87 |
A |
G |
15: 101,384,848 (GRCm39) |
|
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,814,215 (GRCm39) |
S40P |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,703,261 (GRCm39) |
V876A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,320,500 (GRCm39) |
V2031A |
probably damaging |
Het |
| Ntm |
T |
A |
9: 28,925,480 (GRCm39) |
S26C |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,429,322 (GRCm39) |
T1552I |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,659,975 (GRCm39) |
D453V |
probably damaging |
Het |
| Pkd2l1 |
C |
T |
19: 44,180,635 (GRCm39) |
D27N |
probably benign |
Het |
| Plppr5 |
G |
T |
3: 117,456,175 (GRCm39) |
C232F |
probably damaging |
Het |
| Slc39a2 |
G |
T |
14: 52,132,593 (GRCm39) |
E179* |
probably null |
Het |
| Slc8a3 |
A |
G |
12: 81,361,169 (GRCm39) |
V550A |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,208,968 (GRCm39) |
T626S |
probably benign |
Het |
| Tars1 |
A |
C |
15: 11,389,820 (GRCm39) |
Y363* |
probably null |
Het |
| Unc79 |
T |
C |
12: 103,054,780 (GRCm39) |
I906T |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,365,811 (GRCm39) |
P2222S |
possibly damaging |
Het |
| Wdr31 |
A |
C |
4: 62,374,074 (GRCm39) |
V306G |
probably damaging |
Het |
|
| Other mutations in Zdhhc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
hacked
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
middleman
|
UTSW |
8 |
106,210,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Zdhhc1
|
UTSW |
8 |
106,210,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1898:Zdhhc1
|
UTSW |
8 |
106,205,378 (GRCm39) |
splice site |
probably null |
|
|
R2511:Zdhhc1
|
UTSW |
8 |
106,210,190 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4734:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R4741:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R4795:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R4818:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R4819:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R4822:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R4871:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R4891:Zdhhc1
|
UTSW |
8 |
106,199,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4901:Zdhhc1
|
UTSW |
8 |
106,199,484 (GRCm39) |
missense |
probably benign |
|
|
R4905:Zdhhc1
|
UTSW |
8 |
106,210,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4953:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R5128:Zdhhc1
|
UTSW |
8 |
106,210,268 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5274:Zdhhc1
|
UTSW |
8 |
106,210,402 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5380:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R5381:Zdhhc1
|
UTSW |
8 |
106,210,376 (GRCm39) |
frame shift |
probably null |
|
|
R6852:Zdhhc1
|
UTSW |
8 |
106,203,704 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6962:Zdhhc1
|
UTSW |
8 |
106,210,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7990:Zdhhc1
|
UTSW |
8 |
106,203,001 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8836:Zdhhc1
|
UTSW |
8 |
106,200,173 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9047:Zdhhc1
|
UTSW |
8 |
106,205,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation