Incidental Mutation 'IGL03406:Zdhhc20'
ID |
421601 |
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 # |
IGL03406
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
58070160-58127733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58076556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 366
(T366A)
|
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: T354A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086900 Gene: ENSMUSG00000021969 AA Change: T354A
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: ENSMUST00000224133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226029
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226057
AA Change: T366A
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530016L24Rik |
T |
A |
12: 112,463,317 (GRCm39) |
|
probably null |
Het |
Adcy7 |
C |
T |
8: 89,044,947 (GRCm39) |
R228* |
probably null |
Het |
Cdcp1 |
T |
C |
9: 123,014,378 (GRCm39) |
H132R |
probably benign |
Het |
Cfap107 |
A |
G |
4: 144,150,414 (GRCm39) |
Y56H |
probably damaging |
Het |
Cyp4a32 |
T |
C |
4: 115,459,500 (GRCm39) |
I78T |
probably benign |
Het |
Fap |
A |
T |
2: 62,372,466 (GRCm39) |
|
probably benign |
Het |
Gad1-ps |
C |
T |
10: 99,280,641 (GRCm39) |
|
noncoding transcript |
Het |
Gli3 |
T |
C |
13: 15,823,166 (GRCm39) |
I296T |
probably damaging |
Het |
H2-Q2 |
T |
C |
17: 35,561,801 (GRCm39) |
V97A |
probably benign |
Het |
Hr |
T |
A |
14: 70,800,860 (GRCm39) |
|
probably null |
Het |
Itgax |
C |
T |
7: 127,748,370 (GRCm39) |
T1133I |
possibly damaging |
Het |
L3mbtl2 |
G |
A |
15: 81,566,194 (GRCm39) |
R339H |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,873,615 (GRCm39) |
K1726E |
possibly damaging |
Het |
Nlrc5 |
T |
C |
8: 95,203,483 (GRCm39) |
Y528H |
probably benign |
Het |
Nmnat3 |
G |
A |
9: 98,281,530 (GRCm39) |
G44D |
probably damaging |
Het |
Nol8 |
A |
T |
13: 49,815,044 (GRCm39) |
D366V |
probably damaging |
Het |
Or13a25 |
C |
A |
7: 140,247,424 (GRCm39) |
L68M |
probably damaging |
Het |
Pde4d |
A |
T |
13: 110,091,125 (GRCm39) |
|
probably benign |
Het |
Ptpn22 |
C |
A |
3: 103,819,332 (GRCm39) |
N795K |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,549,739 (GRCm39) |
V289D |
probably damaging |
Het |
Slc50a1 |
T |
C |
3: 89,177,408 (GRCm39) |
D40G |
possibly damaging |
Het |
Slco6b1 |
T |
C |
1: 96,875,310 (GRCm39) |
|
noncoding transcript |
Het |
Smarcad1 |
T |
A |
6: 65,069,510 (GRCm39) |
F530Y |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,747,684 (GRCm39) |
|
probably benign |
Het |
Supt16 |
A |
T |
14: 52,415,598 (GRCm39) |
I379N |
possibly damaging |
Het |
Tmem154 |
A |
G |
3: 84,591,567 (GRCm39) |
N39S |
probably benign |
Het |
Ubash3b |
T |
A |
9: 40,948,775 (GRCm39) |
Y180F |
probably damaging |
Het |
Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
Zfp456 |
A |
T |
13: 67,514,450 (GRCm39) |
C419S |
probably damaging |
Het |
Zfp69 |
T |
C |
4: 120,788,281 (GRCm39) |
T345A |
probably benign |
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 |
IGL02748:Zdhhc20
|
APN |
14 |
58,096,010 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
2016-08-02 |