Incidental Mutation 'IGL01948:Zdhhc17'
ID |
180988 |
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 # |
IGL01948
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
110777641-110846001 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 110782137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 519
(T519K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041723]
|
AlphaFold |
Q80TN5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041723
AA Change: T519K
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000043279 Gene: ENSMUSG00000035798 AA Change: T519K
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
T |
C |
5: 3,627,326 (GRCm39) |
F101L |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,846,751 (GRCm39) |
T552A |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,525,063 (GRCm39) |
D506G |
possibly damaging |
Het |
Fam186b |
T |
C |
15: 99,178,327 (GRCm39) |
H333R |
probably benign |
Het |
Fam222b |
T |
C |
11: 78,045,165 (GRCm39) |
V242A |
probably damaging |
Het |
Gabra2 |
A |
G |
5: 71,119,228 (GRCm39) |
F425L |
probably damaging |
Het |
Gm10717 |
A |
T |
9: 3,025,819 (GRCm39) |
T135S |
probably damaging |
Het |
Gm8104 |
A |
T |
14: 42,966,607 (GRCm39) |
M120L |
probably benign |
Het |
Gsdmc |
T |
C |
15: 63,650,430 (GRCm39) |
D308G |
probably damaging |
Het |
Hook3 |
T |
A |
8: 26,549,340 (GRCm39) |
E168V |
possibly damaging |
Het |
Ighv5-17 |
T |
A |
12: 113,823,046 (GRCm39) |
E25V |
probably damaging |
Het |
Imp4 |
T |
G |
1: 34,483,356 (GRCm39) |
|
probably benign |
Het |
Ms4a5 |
A |
C |
19: 11,256,717 (GRCm39) |
M60R |
probably damaging |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Prokr2 |
G |
T |
2: 132,215,603 (GRCm39) |
A286E |
probably damaging |
Het |
Ranbp9 |
T |
A |
13: 43,576,029 (GRCm39) |
Q226L |
probably damaging |
Het |
Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
Tmem38b |
C |
T |
4: 53,850,530 (GRCm39) |
P171S |
probably damaging |
Het |
|
Other mutations in Zdhhc17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01546:Zdhhc17
|
APN |
10 |
110,782,054 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01812:Zdhhc17
|
APN |
10 |
110,784,078 (GRCm39) |
missense |
possibly damaging |
0.93 |
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 |
2014-05-07 |