Incidental Mutation 'IGL02597:Zdhhc3'
ID |
299901 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zdhhc3
|
Ensembl Gene |
ENSMUSG00000025786 |
Gene Name |
zinc finger, DHHC domain containing 3 |
Synonyms |
Zfp373, 2210017C02Rik, 1810006O10Rik, 1110020O22Rik, GODZ |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02597
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
122895224-122942269 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122929456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 60
(F60L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116526
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026892]
[ENSMUST00000123937]
[ENSMUST00000129862]
[ENSMUST00000130717]
[ENSMUST00000138622]
[ENSMUST00000147563]
[ENSMUST00000155778]
[ENSMUST00000140497]
[ENSMUST00000150679]
[ENSMUST00000152396]
|
AlphaFold |
Q8R173 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026892
AA Change: F60L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026892 Gene: ENSMUSG00000025786 AA Change: F60L
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123937
AA Change: F60L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114613 Gene: ENSMUSG00000025786 AA Change: F60L
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129151
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129862
|
SMART Domains |
Protein: ENSMUSP00000119360 Gene: ENSMUSG00000025786
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130717
AA Change: F60L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121712 Gene: ENSMUSG00000025786 AA Change: F60L
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138622
AA Change: F60L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119750 Gene: ENSMUSG00000025786 AA Change: F60L
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147563
AA Change: F60L
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117392 Gene: ENSMUSG00000025786 AA Change: F60L
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
92 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
125 |
255 |
3.8e-39 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155778
AA Change: F60L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119416 Gene: ENSMUSG00000025786 AA Change: F60L
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140497
AA Change: F60L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122604 Gene: ENSMUSG00000025786 AA Change: F60L
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150679
AA Change: F60L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116526 Gene: ENSMUSG00000025786 AA Change: F60L
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152396
AA Change: F60L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116222 Gene: ENSMUSG00000025786 AA Change: F60L
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
low complexity region
|
136 |
149 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
A |
G |
10: 85,469,665 (GRCm39) |
Y862C |
probably damaging |
Het |
Anapc1 |
T |
C |
2: 128,465,851 (GRCm39) |
K1648E |
probably benign |
Het |
Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
Atp7a |
A |
T |
X: 105,113,494 (GRCm39) |
N34I |
probably benign |
Het |
Casq2 |
A |
G |
3: 102,033,953 (GRCm39) |
Y232C |
probably damaging |
Het |
Cdan1 |
A |
T |
2: 120,555,720 (GRCm39) |
N738K |
probably benign |
Het |
Cdh24 |
A |
G |
14: 54,870,972 (GRCm39) |
V132A |
possibly damaging |
Het |
Chd5 |
C |
A |
4: 152,456,169 (GRCm39) |
T946K |
probably damaging |
Het |
Clip4 |
T |
C |
17: 72,156,965 (GRCm39) |
|
probably benign |
Het |
Copz2 |
T |
C |
11: 96,748,425 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
C |
A |
19: 39,549,331 (GRCm39) |
S283* |
probably null |
Het |
Dlec1 |
A |
T |
9: 118,963,604 (GRCm39) |
S973C |
probably damaging |
Het |
Far1 |
A |
T |
7: 113,150,463 (GRCm39) |
T264S |
probably benign |
Het |
Iqgap1 |
A |
G |
7: 80,373,633 (GRCm39) |
L1452P |
probably damaging |
Het |
Irx5 |
A |
C |
8: 93,087,400 (GRCm39) |
N444T |
possibly damaging |
Het |
Kcnip2 |
A |
G |
19: 45,784,712 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,761,712 (GRCm39) |
M546K |
unknown |
Het |
Lrrc37a |
A |
G |
11: 103,395,113 (GRCm39) |
L104S |
probably benign |
Het |
Med12 |
T |
C |
X: 100,328,538 (GRCm39) |
L1143P |
probably damaging |
Het |
Mtcl1 |
T |
C |
17: 66,645,016 (GRCm39) |
H1477R |
probably benign |
Het |
Nkap |
T |
A |
X: 36,411,437 (GRCm39) |
|
probably benign |
Het |
Ntmt2 |
A |
G |
1: 163,544,656 (GRCm39) |
V109A |
probably benign |
Het |
Or10a2 |
A |
T |
7: 106,673,646 (GRCm39) |
T204S |
possibly damaging |
Het |
Osbpl6 |
C |
T |
2: 76,386,318 (GRCm39) |
Q214* |
probably null |
Het |
Pex1 |
C |
T |
5: 3,685,865 (GRCm39) |
T1202I |
possibly damaging |
Het |
Prrc2b |
A |
T |
2: 32,109,625 (GRCm39) |
N1066I |
probably damaging |
Het |
Psmg1 |
T |
C |
16: 95,788,497 (GRCm39) |
E152G |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,439,189 (GRCm39) |
I1560T |
probably damaging |
Het |
Shd |
A |
G |
17: 56,280,987 (GRCm39) |
E221G |
possibly damaging |
Het |
Slc39a4 |
T |
C |
15: 76,497,824 (GRCm39) |
T478A |
probably benign |
Het |
Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tmem161a |
A |
T |
8: 70,634,693 (GRCm39) |
R297S |
probably damaging |
Het |
Tns1 |
A |
G |
1: 74,025,032 (GRCm39) |
|
probably null |
Het |
Ugt2b36 |
G |
A |
5: 87,228,783 (GRCm39) |
T420M |
probably damaging |
Het |
Wdfy4 |
G |
A |
14: 32,812,818 (GRCm39) |
R1652* |
probably null |
Het |
Zap70 |
T |
A |
1: 36,811,001 (GRCm39) |
Y178* |
probably null |
Het |
|
Other mutations in Zdhhc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02322:Zdhhc3
|
APN |
9 |
122,929,542 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03036:Zdhhc3
|
APN |
9 |
122,929,582 (GRCm39) |
missense |
probably damaging |
1.00 |
LCD18:Zdhhc3
|
UTSW |
9 |
122,912,087 (GRCm39) |
intron |
probably benign |
|
R0787:Zdhhc3
|
UTSW |
9 |
122,912,688 (GRCm39) |
nonsense |
probably null |
|
R2049:Zdhhc3
|
UTSW |
9 |
122,929,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R4904:Zdhhc3
|
UTSW |
9 |
122,929,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R5418:Zdhhc3
|
UTSW |
9 |
122,909,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R5639:Zdhhc3
|
UTSW |
9 |
122,929,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R5886:Zdhhc3
|
UTSW |
9 |
122,920,146 (GRCm39) |
missense |
probably benign |
0.01 |
R8379:Zdhhc3
|
UTSW |
9 |
122,918,143 (GRCm39) |
missense |
probably damaging |
0.98 |
R8471:Zdhhc3
|
UTSW |
9 |
122,929,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R8982:Zdhhc3
|
UTSW |
9 |
122,929,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |