Incidental Mutation 'IGL00492:Zdhhc20'
ID |
4180 |
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 # |
IGL00492
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
58070160-58127733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58111381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 73
(I73T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089473]
[ENSMUST00000226057]
|
AlphaFold |
Q5Y5T1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089473
AA Change: I73T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000086900 Gene: ENSMUSG00000021969 AA Change: I73T
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 |
noncoding transcript
Transcript: ENSMUST00000225955
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226057
AA Change: I73T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
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 |
Arhgap29 |
G |
T |
3: 121,796,961 (GRCm39) |
E108* |
probably null |
Het |
Braf |
A |
T |
6: 39,637,933 (GRCm39) |
|
probably null |
Het |
Calr3 |
G |
A |
8: 73,185,240 (GRCm39) |
Q112* |
probably null |
Het |
Dis3 |
A |
G |
14: 99,320,110 (GRCm39) |
I649T |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,577,670 (GRCm39) |
V65A |
probably benign |
Het |
Dpp4 |
A |
G |
2: 62,209,646 (GRCm39) |
Y126H |
probably damaging |
Het |
Dtwd2 |
A |
T |
18: 49,856,776 (GRCm39) |
Y170* |
probably null |
Het |
Efcab7 |
A |
G |
4: 99,719,700 (GRCm39) |
T61A |
probably benign |
Het |
Fbxl3 |
G |
T |
14: 103,332,730 (GRCm39) |
L83M |
probably damaging |
Het |
Fbxo17 |
A |
C |
7: 28,434,766 (GRCm39) |
S184R |
probably damaging |
Het |
Fcf1 |
T |
C |
12: 85,029,106 (GRCm39) |
|
probably null |
Het |
Hcrtr2 |
T |
C |
9: 76,153,723 (GRCm39) |
Y223C |
probably damaging |
Het |
Kcnn1 |
A |
G |
8: 71,300,706 (GRCm39) |
F432S |
probably benign |
Het |
Kmt2a |
C |
T |
9: 44,719,231 (GRCm39) |
|
probably benign |
Het |
Lce1j |
T |
C |
3: 92,696,713 (GRCm39) |
T22A |
unknown |
Het |
Lrfn5 |
T |
A |
12: 61,890,912 (GRCm39) |
S734T |
probably benign |
Het |
Lyst |
T |
A |
13: 13,852,760 (GRCm39) |
S2253R |
possibly damaging |
Het |
Msantd5f1 |
C |
T |
4: 73,605,570 (GRCm39) |
T327I |
probably damaging |
Het |
Myrfl |
G |
A |
10: 116,632,011 (GRCm39) |
L645F |
possibly damaging |
Het |
Nudt9 |
A |
G |
5: 104,209,628 (GRCm39) |
|
probably benign |
Het |
Ostn |
T |
A |
16: 27,140,132 (GRCm39) |
M15K |
possibly damaging |
Het |
Psg20 |
T |
C |
7: 18,408,536 (GRCm39) |
T395A |
possibly damaging |
Het |
Rpf1 |
G |
A |
3: 146,218,002 (GRCm39) |
H171Y |
probably benign |
Het |
Shprh |
A |
G |
10: 11,063,902 (GRCm39) |
E1325G |
probably damaging |
Het |
Slc22a8 |
G |
T |
19: 8,571,499 (GRCm39) |
V77L |
probably benign |
Het |
Tbck |
A |
C |
3: 132,428,501 (GRCm39) |
K285N |
probably benign |
Het |
Vmn1r86 |
C |
T |
7: 12,836,468 (GRCm39) |
C86Y |
possibly damaging |
Het |
Zfp512b |
T |
C |
2: 181,228,862 (GRCm39) |
D701G |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,602,192 (GRCm39) |
Y379N |
possibly damaging |
Het |
Znfx1 |
G |
T |
2: 166,878,843 (GRCm39) |
H980Q |
probably damaging |
Het |
|
Other mutations in Zdhhc20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02748:Zdhhc20
|
APN |
14 |
58,096,010 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
2012-04-20 |