Incidental Mutation 'IGL01107:Zdhhc20'
ID |
52683 |
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: 0.209)
|
Stock # |
IGL01107
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
58070160-58127733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58103046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 101
(E101V)
|
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: E101V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086900 Gene: ENSMUSG00000021969 AA Change: E101V
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: E101V
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably 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 |
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 |
2013-06-21 |