Incidental Mutation 'IGL01697:Zdhhc2'
| ID |
104320 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zdhhc2
|
| Ensembl Gene |
ENSMUSG00000039470 |
| Gene Name |
zinc finger, DHHC domain containing 2 |
| Synonyms |
6430583A19Rik, 5730415P04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
40876526-40946178 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 40920460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049389]
[ENSMUST00000128166]
[ENSMUST00000167766]
|
| AlphaFold |
P59267 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049389
|
| SMART Domains |
Protein: ENSMUSP00000041727
Gene: ENSMUSG00000039470
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
66 |
248 |
4.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128166
|
| SMART Domains |
Protein: ENSMUSP00000123070
Gene: ENSMUSG00000039470
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
122 |
248 |
1.8e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167766
|
| SMART Domains |
Protein: ENSMUSP00000129996
Gene: ENSMUSG00000039470
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
66 |
248 |
4.1e-43 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,203,613 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
A |
C |
15: 96,259,453 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
C |
A |
9: 47,761,622 (GRCm39) |
D435E |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,248,562 (GRCm39) |
F33L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,245,459 (GRCm39) |
H199R |
probably benign |
Het |
| F5 |
T |
A |
1: 164,021,621 (GRCm39) |
N1365K |
probably benign |
Het |
| Gipc2 |
T |
G |
3: 151,843,245 (GRCm39) |
I131L |
probably benign |
Het |
| Gpc1 |
C |
T |
1: 92,786,132 (GRCm39) |
S507F |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,031,214 (GRCm39) |
D269G |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,573 (GRCm39) |
M1K |
probably null |
Het |
| Kif5b |
T |
C |
18: 6,226,871 (GRCm39) |
H129R |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,536,965 (GRCm39) |
C252S |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,904,401 (GRCm39) |
N645K |
probably damaging |
Het |
| Megf9 |
T |
A |
4: 70,351,709 (GRCm39) |
T471S |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,477 (GRCm39) |
D586G |
possibly damaging |
Het |
| Ninl |
A |
T |
2: 150,781,867 (GRCm39) |
L1206Q |
probably damaging |
Het |
| Oog2 |
T |
A |
4: 143,921,754 (GRCm39) |
N221K |
possibly damaging |
Het |
| Or13a17 |
T |
C |
7: 140,271,565 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,831 (GRCm39) |
T37S |
probably benign |
Het |
| Or6c8b |
C |
A |
10: 128,882,371 (GRCm39) |
C187F |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,313,018 (GRCm39) |
A365V |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,972 (GRCm39) |
E181G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,321,504 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
C |
T |
13: 76,276,852 (GRCm39) |
L479F |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,837,654 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,757,716 (GRCm39) |
I8V |
probably benign |
Het |
| Spata31f3 |
T |
A |
4: 42,874,163 (GRCm39) |
M2L |
probably benign |
Het |
| Stim1 |
A |
T |
7: 102,075,176 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,376,690 (GRCm39) |
S357P |
probably benign |
Het |
| Vmn1r178 |
T |
A |
7: 23,593,114 (GRCm39) |
I54N |
probably damaging |
Het |
|
| Other mutations in Zdhhc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01751:Zdhhc2
|
APN |
8 |
40,926,042 (GRCm39) |
missense |
probably benign |
|
|
IGL01752:Zdhhc2
|
APN |
8 |
40,926,042 (GRCm39) |
missense |
probably benign |
|
|
IGL01800:Zdhhc2
|
APN |
8 |
40,917,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02475:Zdhhc2
|
APN |
8 |
40,926,066 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02554:Zdhhc2
|
APN |
8 |
40,915,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0662:Zdhhc2
|
UTSW |
8 |
40,900,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0720:Zdhhc2
|
UTSW |
8 |
40,925,948 (GRCm39) |
splice site |
probably null |
|
|
R1511:Zdhhc2
|
UTSW |
8 |
40,921,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4738:Zdhhc2
|
UTSW |
8 |
40,917,183 (GRCm39) |
splice site |
probably null |
|
|
R5114:Zdhhc2
|
UTSW |
8 |
40,898,825 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5935:Zdhhc2
|
UTSW |
8 |
40,917,277 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6029:Zdhhc2
|
UTSW |
8 |
40,925,968 (GRCm39) |
missense |
probably null |
|
|
R7210:Zdhhc2
|
UTSW |
8 |
40,920,480 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7792:Zdhhc2
|
UTSW |
8 |
40,900,182 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8756:Zdhhc2
|
UTSW |
8 |
40,920,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Zdhhc2
|
UTSW |
8 |
40,898,846 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9142:Zdhhc2
|
UTSW |
8 |
40,920,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9677:Zdhhc2
|
UTSW |
8 |
40,909,712 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation