Incidental Mutation 'IGL01483:Zdhhc14'
| ID |
88694 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zdhhc14
|
| Ensembl Gene |
ENSMUSG00000034265 |
| Gene Name |
zinc finger, DHHC domain containing 14 |
| Synonyms |
New1cp, B530001K09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL01483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
5542832-5804086 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5762733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 212
(M212I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089185]
|
| AlphaFold |
Q8BQQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089185
AA Change: M212I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000086589
Gene: ENSMUSG00000034265
AA Change: M212I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
110 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
160 |
289 |
1.8e-38 |
PFAM |
|
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
G |
T |
16: 90,351,201 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
C |
5: 8,977,871 (GRCm39) |
I483T |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,710,639 (GRCm39) |
H388L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,008,243 (GRCm39) |
Y52H |
possibly damaging |
Het |
| Atf7ip |
A |
G |
6: 136,564,457 (GRCm39) |
N900S |
probably damaging |
Het |
| Bmp10 |
A |
T |
6: 87,410,933 (GRCm39) |
D242V |
probably damaging |
Het |
| Ceacam12 |
A |
G |
7: 17,801,446 (GRCm39) |
R142G |
probably benign |
Het |
| Cilp2 |
T |
A |
8: 70,335,496 (GRCm39) |
I501F |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,216,591 (GRCm39) |
I603S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,819,476 (GRCm39) |
V426A |
probably damaging |
Het |
| Dyrk1b |
A |
G |
7: 27,882,101 (GRCm39) |
D94G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,173 (GRCm39) |
V968A |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Fbxo7 |
T |
C |
10: 85,880,445 (GRCm39) |
Y298H |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,310,827 (GRCm39) |
D25G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,947,043 (GRCm39) |
V90A |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,553 (GRCm39) |
E144D |
probably damaging |
Het |
| Lpo |
G |
A |
11: 87,711,964 (GRCm39) |
T31I |
probably benign |
Het |
| Mc5r |
A |
G |
18: 68,472,315 (GRCm39) |
I225V |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,044,009 (GRCm39) |
F245L |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,670 (GRCm39) |
D121G |
probably damaging |
Het |
| Nap1l4 |
A |
T |
7: 143,081,053 (GRCm39) |
|
probably null |
Het |
| Noc4l |
T |
A |
5: 110,796,824 (GRCm39) |
K486M |
probably damaging |
Het |
| Notum |
T |
C |
11: 120,547,482 (GRCm39) |
D271G |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,783 (GRCm39) |
L550Q |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,661,465 (GRCm39) |
S594P |
probably damaging |
Het |
| Pramel12 |
A |
T |
4: 143,144,047 (GRCm39) |
E131V |
probably damaging |
Het |
| Prr23a1 |
T |
G |
9: 98,725,369 (GRCm39) |
S244A |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,432,273 (GRCm38) |
|
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,055,832 (GRCm39) |
N23S |
probably benign |
Het |
| Smarcc1 |
G |
T |
9: 110,051,128 (GRCm39) |
G983* |
probably null |
Het |
| Tbc1d22a |
A |
T |
15: 86,275,404 (GRCm39) |
Q442L |
probably benign |
Het |
| Tuba1b |
A |
G |
15: 98,830,338 (GRCm39) |
Y161H |
possibly damaging |
Het |
|
| Other mutations in Zdhhc14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Zdhhc14
|
APN |
17 |
5,802,959 (GRCm39) |
splice site |
probably benign |
|
|
IGL00909:Zdhhc14
|
APN |
17 |
5,803,067 (GRCm39) |
missense |
probably benign |
|
|
IGL00964:Zdhhc14
|
APN |
17 |
5,762,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01398:Zdhhc14
|
APN |
17 |
5,762,738 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02185:Zdhhc14
|
APN |
17 |
5,803,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02801:Zdhhc14
|
APN |
17 |
5,777,094 (GRCm39) |
splice site |
probably null |
|
|
R0189:Zdhhc14
|
UTSW |
17 |
5,775,539 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0304:Zdhhc14
|
UTSW |
17 |
5,775,611 (GRCm39) |
splice site |
probably benign |
|
|
R0648:Zdhhc14
|
UTSW |
17 |
5,543,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1017:Zdhhc14
|
UTSW |
17 |
5,543,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1595:Zdhhc14
|
UTSW |
17 |
5,543,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2416:Zdhhc14
|
UTSW |
17 |
5,803,283 (GRCm39) |
missense |
probably benign |
|
|
R3420:Zdhhc14
|
UTSW |
17 |
5,803,366 (GRCm39) |
makesense |
probably null |
|
|
R3421:Zdhhc14
|
UTSW |
17 |
5,803,366 (GRCm39) |
makesense |
probably null |
|
|
R4063:Zdhhc14
|
UTSW |
17 |
5,802,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Zdhhc14
|
UTSW |
17 |
5,777,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5359:Zdhhc14
|
UTSW |
17 |
5,543,821 (GRCm39) |
missense |
probably benign |
|
|
R6236:Zdhhc14
|
UTSW |
17 |
5,543,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7029:Zdhhc14
|
UTSW |
17 |
5,698,186 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7350:Zdhhc14
|
UTSW |
17 |
5,777,151 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7873:Zdhhc14
|
UTSW |
17 |
5,762,729 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8247:Zdhhc14
|
UTSW |
17 |
5,736,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Zdhhc14
|
UTSW |
17 |
5,762,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8865:Zdhhc14
|
UTSW |
17 |
5,775,570 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8969:Zdhhc14
|
UTSW |
17 |
5,775,555 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9133:Zdhhc14
|
UTSW |
17 |
5,803,283 (GRCm39) |
missense |
probably benign |
|
|
R9291:Zdhhc14
|
UTSW |
17 |
5,698,237 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9433:Zdhhc14
|
UTSW |
17 |
5,781,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-11-18 |
Incidental Mutation