Incidental Mutation 'IGL02748:Zdhhc20'
ID |
306165 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zdhhc20
|
Ensembl Gene |
ENSMUSG00000021969 |
Gene Name |
zinc finger, DHHC domain containing 20 |
Synonyms |
5033406L14Rik, 4930542A17Rik, ENSMUSG00000055956, B230110O18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
IGL02748
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
58070160-58127733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58096010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 143
(S143P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089473]
[ENSMUST00000226057]
|
AlphaFold |
Q5Y5T1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089473
AA Change: S143P
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000086900 Gene: ENSMUSG00000021969 AA Change: S143P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
121 |
250 |
2.2e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226057
AA Change: S143P
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Baiap2l1 |
T |
A |
5: 144,203,415 (GRCm39) |
|
probably benign |
Het |
Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
Crlf3 |
A |
G |
11: 79,950,145 (GRCm39) |
S162P |
probably damaging |
Het |
Dctn2 |
C |
T |
10: 127,113,142 (GRCm39) |
R231C |
probably damaging |
Het |
Dhcr24 |
T |
C |
4: 106,421,589 (GRCm39) |
|
probably benign |
Het |
Efcab12 |
T |
A |
6: 115,797,063 (GRCm39) |
T364S |
probably damaging |
Het |
Eps8l3 |
A |
G |
3: 107,786,684 (GRCm39) |
|
probably benign |
Het |
Ezh2 |
A |
G |
6: 47,535,173 (GRCm39) |
L92P |
probably damaging |
Het |
Fbxw15 |
A |
G |
9: 109,387,278 (GRCm39) |
I239T |
possibly damaging |
Het |
Fndc4 |
T |
C |
5: 31,452,130 (GRCm39) |
T96A |
possibly damaging |
Het |
Gcn1 |
G |
A |
5: 115,748,859 (GRCm39) |
|
probably null |
Het |
Ifna13 |
A |
G |
4: 88,562,097 (GRCm39) |
S176P |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 191,903,728 (GRCm39) |
H56R |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,592,761 (GRCm39) |
D3786G |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,337,082 (GRCm39) |
V1339E |
probably damaging |
Het |
Mthfd1l |
T |
C |
10: 3,968,587 (GRCm39) |
V414A |
possibly damaging |
Het |
Mthfd1l |
T |
G |
10: 3,930,268 (GRCm39) |
|
probably null |
Het |
Or10ag56 |
T |
A |
2: 87,140,009 (GRCm39) |
L312Q |
probably damaging |
Het |
Or5an1c |
A |
G |
19: 12,218,204 (GRCm39) |
F274L |
probably benign |
Het |
Or6b3 |
A |
G |
1: 92,439,189 (GRCm39) |
L187P |
probably damaging |
Het |
Pcdhb15 |
T |
C |
18: 37,608,273 (GRCm39) |
S502P |
probably damaging |
Het |
Pde5a |
T |
A |
3: 122,554,541 (GRCm39) |
N242K |
probably damaging |
Het |
Pik3cb |
A |
T |
9: 98,945,021 (GRCm39) |
|
probably benign |
Het |
Rab3gap1 |
A |
G |
1: 127,865,198 (GRCm39) |
M729V |
probably damaging |
Het |
Rai14 |
A |
G |
15: 10,589,421 (GRCm39) |
V259A |
probably benign |
Het |
Rassf4 |
T |
C |
6: 116,616,418 (GRCm39) |
I298V |
possibly damaging |
Het |
Senp7 |
C |
T |
16: 56,006,457 (GRCm39) |
T927M |
probably damaging |
Het |
Snx27 |
A |
T |
3: 94,410,872 (GRCm39) |
I426N |
probably benign |
Het |
Syce1l |
A |
T |
8: 114,382,097 (GRCm39) |
|
probably benign |
Het |
Tmem18 |
T |
C |
12: 30,638,744 (GRCm39) |
*141Q |
probably null |
Het |
Tnrc6c |
T |
C |
11: 117,622,996 (GRCm39) |
S1006P |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,653,157 (GRCm39) |
T308A |
probably benign |
Het |
Vmn2r24 |
T |
A |
6: 123,793,057 (GRCm39) |
C795S |
possibly damaging |
Het |
|
Other mutations in Zdhhc20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00492:Zdhhc20
|
APN |
14 |
58,111,381 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00983:Zdhhc20
|
APN |
14 |
58,076,613 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01107:Zdhhc20
|
APN |
14 |
58,103,046 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01350:Zdhhc20
|
APN |
14 |
58,111,444 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02572:Zdhhc20
|
APN |
14 |
58,127,564 (GRCm39) |
missense |
probably benign |
0.20 |
IGL03406:Zdhhc20
|
APN |
14 |
58,076,556 (GRCm39) |
missense |
probably benign |
|
R0314:Zdhhc20
|
UTSW |
14 |
58,094,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Zdhhc20
|
UTSW |
14 |
58,095,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R1144:Zdhhc20
|
UTSW |
14 |
58,094,135 (GRCm39) |
missense |
probably benign |
0.07 |
R1703:Zdhhc20
|
UTSW |
14 |
58,076,545 (GRCm39) |
critical splice donor site |
probably null |
|
R1815:Zdhhc20
|
UTSW |
14 |
58,127,600 (GRCm39) |
missense |
probably benign |
0.10 |
R1816:Zdhhc20
|
UTSW |
14 |
58,127,600 (GRCm39) |
missense |
probably benign |
0.10 |
R6219:Zdhhc20
|
UTSW |
14 |
58,078,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R6488:Zdhhc20
|
UTSW |
14 |
58,078,289 (GRCm39) |
missense |
probably benign |
0.00 |
R6650:Zdhhc20
|
UTSW |
14 |
58,096,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R6790:Zdhhc20
|
UTSW |
14 |
58,127,600 (GRCm39) |
missense |
probably benign |
0.00 |
R7196:Zdhhc20
|
UTSW |
14 |
58,111,348 (GRCm39) |
critical splice donor site |
probably null |
|
R7365:Zdhhc20
|
UTSW |
14 |
58,111,377 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8126:Zdhhc20
|
UTSW |
14 |
58,084,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R8832:Zdhhc20
|
UTSW |
14 |
58,103,089 (GRCm39) |
missense |
probably benign |
0.05 |
R8832:Zdhhc20
|
UTSW |
14 |
58,080,721 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8885:Zdhhc20
|
UTSW |
14 |
58,127,671 (GRCm39) |
start gained |
probably benign |
|
Z1176:Zdhhc20
|
UTSW |
14 |
58,076,562 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |