Incidental Mutation 'IGL01546:Zdhhc17'
ID |
90350 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zdhhc17
|
Ensembl Gene |
ENSMUSG00000035798 |
Gene Name |
zinc finger, DHHC domain containing 17 |
Synonyms |
Hip14, A230053P19Rik, D130071N24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01546
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
110777641-110846001 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 110782054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 547
(V547M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041723]
|
AlphaFold |
Q80TN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041723
AA Change: V547M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000043279 Gene: ENSMUSG00000035798 AA Change: V547M
Domain | Start | End | E-Value | Type |
Blast:ANK
|
57 |
85 |
2e-8 |
BLAST |
ANK
|
89 |
118 |
6.71e-2 |
SMART |
ANK
|
123 |
152 |
1.99e-4 |
SMART |
ANK
|
156 |
185 |
1.61e-4 |
SMART |
ANK
|
189 |
219 |
1.9e-1 |
SMART |
ANK
|
224 |
253 |
1.53e-5 |
SMART |
Blast:ANK
|
257 |
286 |
2e-11 |
BLAST |
transmembrane domain
|
305 |
323 |
N/A |
INTRINSIC |
transmembrane domain
|
328 |
350 |
N/A |
INTRINSIC |
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
transmembrane domain
|
384 |
403 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
434 |
570 |
1e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217698
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217982
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220247
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reminiscent of Huntington disease (decreased body weight, impaired coordination, hyperactivity, increased rearing, decreased prepulse inhibition, increased stereotypic behavior, reduced striatum, and decreased brain weight). [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amdhd2 |
C |
A |
17: 24,382,574 (GRCm39) |
R22L |
probably benign |
Het |
Arg2 |
T |
C |
12: 79,196,633 (GRCm39) |
|
probably benign |
Het |
Catip |
T |
C |
1: 74,401,954 (GRCm39) |
L43P |
probably damaging |
Het |
Ccdc30 |
A |
C |
4: 119,255,385 (GRCm39) |
L123R |
probably damaging |
Het |
Cep89 |
T |
C |
7: 35,120,325 (GRCm39) |
L369P |
probably damaging |
Het |
Dolpp1 |
T |
C |
2: 30,287,107 (GRCm39) |
F180L |
probably damaging |
Het |
Kctd19 |
T |
C |
8: 106,113,594 (GRCm39) |
H670R |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,903,068 (GRCm39) |
I315N |
probably benign |
Het |
Mfsd4b2 |
A |
T |
10: 39,797,471 (GRCm39) |
W295R |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,631,627 (GRCm39) |
T116A |
probably damaging |
Het |
Mn1 |
A |
T |
5: 111,569,114 (GRCm39) |
D1028V |
probably damaging |
Het |
Or1e17 |
G |
A |
11: 73,832,020 (GRCm39) |
G316D |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,738 (GRCm39) |
S67P |
probably damaging |
Het |
Or52b1 |
T |
C |
7: 104,978,899 (GRCm39) |
R167G |
probably damaging |
Het |
Or52j3 |
A |
T |
7: 102,836,617 (GRCm39) |
I270F |
probably damaging |
Het |
Or7a40 |
A |
G |
16: 16,491,129 (GRCm39) |
S239P |
probably damaging |
Het |
Or7g27 |
T |
G |
9: 19,250,068 (GRCm39) |
V104G |
possibly damaging |
Het |
Phc3 |
C |
A |
3: 31,015,888 (GRCm39) |
A108S |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,429,712 (GRCm39) |
Y3310C |
probably damaging |
Het |
Ppp4r3b |
T |
C |
11: 29,159,488 (GRCm39) |
|
probably null |
Het |
Slx4ip |
A |
G |
2: 136,908,119 (GRCm39) |
T159A |
probably benign |
Het |
Sos1 |
T |
A |
17: 80,716,040 (GRCm39) |
Y974F |
probably damaging |
Het |
Spaca7b |
T |
A |
8: 11,706,136 (GRCm39) |
M133L |
probably benign |
Het |
Taar8a |
A |
T |
10: 23,952,813 (GRCm39) |
Y139F |
possibly damaging |
Het |
Vcam1 |
A |
G |
3: 115,909,591 (GRCm39) |
C579R |
possibly damaging |
Het |
|
Other mutations in Zdhhc17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01812:Zdhhc17
|
APN |
10 |
110,784,078 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01948:Zdhhc17
|
APN |
10 |
110,782,137 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02002:Zdhhc17
|
APN |
10 |
110,803,550 (GRCm39) |
missense |
probably benign |
|
IGL03263:Zdhhc17
|
APN |
10 |
110,796,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R0153:Zdhhc17
|
UTSW |
10 |
110,790,955 (GRCm39) |
nonsense |
probably null |
|
R0375:Zdhhc17
|
UTSW |
10 |
110,817,967 (GRCm39) |
nonsense |
probably null |
|
R0436:Zdhhc17
|
UTSW |
10 |
110,817,851 (GRCm39) |
splice site |
probably null |
|
R1452:Zdhhc17
|
UTSW |
10 |
110,790,936 (GRCm39) |
missense |
probably benign |
0.04 |
R1496:Zdhhc17
|
UTSW |
10 |
110,782,071 (GRCm39) |
missense |
probably damaging |
0.99 |
R1528:Zdhhc17
|
UTSW |
10 |
110,784,050 (GRCm39) |
critical splice donor site |
probably null |
|
R1856:Zdhhc17
|
UTSW |
10 |
110,783,154 (GRCm39) |
splice site |
probably null |
|
R2119:Zdhhc17
|
UTSW |
10 |
110,817,909 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3747:Zdhhc17
|
UTSW |
10 |
110,780,281 (GRCm39) |
missense |
probably benign |
0.24 |
R4900:Zdhhc17
|
UTSW |
10 |
110,821,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5647:Zdhhc17
|
UTSW |
10 |
110,809,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R5758:Zdhhc17
|
UTSW |
10 |
110,780,256 (GRCm39) |
makesense |
probably null |
|
R6228:Zdhhc17
|
UTSW |
10 |
110,792,216 (GRCm39) |
missense |
probably benign |
0.01 |
R6823:Zdhhc17
|
UTSW |
10 |
110,790,972 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7172:Zdhhc17
|
UTSW |
10 |
110,845,809 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7874:Zdhhc17
|
UTSW |
10 |
110,817,978 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8353:Zdhhc17
|
UTSW |
10 |
110,845,803 (GRCm39) |
missense |
probably benign |
0.09 |
R8674:Zdhhc17
|
UTSW |
10 |
110,785,540 (GRCm39) |
missense |
probably benign |
0.25 |
R8676:Zdhhc17
|
UTSW |
10 |
110,798,240 (GRCm39) |
intron |
probably benign |
|
R8810:Zdhhc17
|
UTSW |
10 |
110,784,121 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9014:Zdhhc17
|
UTSW |
10 |
110,785,544 (GRCm39) |
missense |
probably benign |
0.22 |
R9028:Zdhhc17
|
UTSW |
10 |
110,796,934 (GRCm39) |
missense |
probably damaging |
0.97 |
R9147:Zdhhc17
|
UTSW |
10 |
110,785,503 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9148:Zdhhc17
|
UTSW |
10 |
110,785,503 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9160:Zdhhc17
|
UTSW |
10 |
110,783,189 (GRCm39) |
missense |
probably damaging |
0.98 |
R9186:Zdhhc17
|
UTSW |
10 |
110,780,281 (GRCm39) |
missense |
probably benign |
0.24 |
R9360:Zdhhc17
|
UTSW |
10 |
110,783,165 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Zdhhc17
|
UTSW |
10 |
110,781,327 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2013-12-03 |