Incidental Mutation 'IGL01616:Zdhhc23'
| ID |
92381 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zdhhc23
|
| Ensembl Gene |
ENSMUSG00000036304 |
| Gene Name |
zinc finger, DHHC domain containing 23 |
| Synonyms |
LOC385651, LOC332175 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01616
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
43785396-43800154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43793843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 277
(H277L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036321]
[ENSMUST00000165648]
[ENSMUST00000231700]
[ENSMUST00000232055]
|
| AlphaFold |
Q5Y5T3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036321
AA Change: H277L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044744
Gene: ENSMUSG00000036304
AA Change: H277L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
99 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
132 |
151 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
175 |
378 |
3.8e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165648
AA Change: H277L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128650
Gene: ENSMUSG00000036304
AA Change: H277L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
99 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
132 |
151 |
N/A |
INTRINSIC |
|
transmembrane domain
|
161 |
180 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
244 |
378 |
8.4e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231700
AA Change: H277L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232055
AA Change: H277L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
T |
A |
16: 85,684,702 (GRCm39) |
|
probably null |
Het |
| Afg3l1 |
T |
A |
8: 124,228,746 (GRCm39) |
W771R |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,628,586 (GRCm39) |
S348P |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,217,419 (GRCm39) |
T112A |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,828,993 (GRCm39) |
I304V |
probably benign |
Het |
| Fcsk |
G |
T |
8: 111,617,108 (GRCm39) |
H388N |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,323,064 (GRCm39) |
T1072A |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,362,276 (GRCm39) |
|
probably null |
Het |
| Gcdh |
C |
T |
8: 85,620,288 (GRCm39) |
G8D |
probably damaging |
Het |
| Ivns1abp |
C |
A |
1: 151,237,294 (GRCm39) |
T486K |
possibly damaging |
Het |
| Mat1a |
G |
A |
14: 40,831,436 (GRCm39) |
V55M |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,266,928 (GRCm39) |
F22S |
probably damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,717,287 (GRCm39) |
|
probably benign |
Het |
| Psrc1 |
C |
A |
3: 108,294,008 (GRCm39) |
S275Y |
possibly damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,646,272 (GRCm39) |
L1062P |
probably damaging |
Het |
| Slc22a13b |
A |
C |
9: 119,049,994 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
T |
A |
11: 95,279,910 (GRCm39) |
M178K |
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,111,829 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Slc9a8 |
C |
T |
2: 167,266,086 (GRCm39) |
T21I |
possibly damaging |
Het |
| Tox |
T |
C |
4: 6,688,430 (GRCm39) |
T526A |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,850,828 (GRCm39) |
P1749S |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 102,061,126 (GRCm39) |
A1363S |
probably damaging |
Het |
|
| Other mutations in Zdhhc23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0179:Zdhhc23
|
UTSW |
16 |
43,794,066 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0180:Zdhhc23
|
UTSW |
16 |
43,794,066 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1367:Zdhhc23
|
UTSW |
16 |
43,794,513 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1557:Zdhhc23
|
UTSW |
16 |
43,791,829 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1997:Zdhhc23
|
UTSW |
16 |
43,799,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Zdhhc23
|
UTSW |
16 |
43,793,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Zdhhc23
|
UTSW |
16 |
43,794,282 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2497:Zdhhc23
|
UTSW |
16 |
43,794,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3432:Zdhhc23
|
UTSW |
16 |
43,794,533 (GRCm39) |
splice site |
probably benign |
|
|
R4776:Zdhhc23
|
UTSW |
16 |
43,793,952 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5067:Zdhhc23
|
UTSW |
16 |
43,794,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7086:Zdhhc23
|
UTSW |
16 |
43,791,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7840:Zdhhc23
|
UTSW |
16 |
43,791,907 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7876:Zdhhc23
|
UTSW |
16 |
43,789,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8416:Zdhhc23
|
UTSW |
16 |
43,791,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8843:Zdhhc23
|
UTSW |
16 |
43,794,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9394:Zdhhc23
|
UTSW |
16 |
43,791,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9491:Zdhhc23
|
UTSW |
16 |
43,794,062 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation