Incidental Mutation 'IGL02002:Zdhhc17'
| ID |
183111 |
| 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 # |
IGL02002
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
110777641-110846001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110803550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 256
(V256I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041723]
[ENSMUST00000219307]
|
| AlphaFold |
Q80TN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041723
AA Change: V256I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: V256I
| 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: ENSMUST00000099285
|
| SMART Domains |
Protein: ENSMUSP00000096889
Gene: ENSMUSG00000035798
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
79 |
108 |
6.71e-2 |
SMART |
|
ANK
|
113 |
142 |
1.99e-4 |
SMART |
|
ANK
|
146 |
175 |
1.61e-4 |
SMART |
|
ANK
|
179 |
209 |
1.9e-1 |
SMART |
|
ANK
|
214 |
243 |
1.53e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217698
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218895
AA Change: V53I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219307
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
G |
T |
17: 84,989,479 (GRCm39) |
Y76* |
probably null |
Het |
| Acadsb |
T |
A |
7: 131,030,258 (GRCm39) |
V135E |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,775,286 (GRCm39) |
Y326H |
probably damaging |
Het |
| Actl11 |
T |
A |
9: 107,806,529 (GRCm39) |
V284D |
probably benign |
Het |
| Adcy10 |
G |
T |
1: 165,349,412 (GRCm39) |
D428Y |
probably damaging |
Het |
| Akap8 |
A |
G |
17: 32,528,470 (GRCm39) |
C481R |
probably damaging |
Het |
| Amotl2 |
G |
A |
9: 102,602,316 (GRCm39) |
A26T |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,044,822 (GRCm39) |
V814A |
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,639,391 (GRCm39) |
N148K |
probably damaging |
Het |
| Ccdc149 |
G |
A |
5: 52,563,421 (GRCm39) |
T124M |
probably damaging |
Het |
| Cd320 |
A |
G |
17: 34,062,214 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,194 (GRCm39) |
T23A |
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,682,946 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
T |
A |
3: 145,062,699 (GRCm39) |
F675I |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,709,858 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,843,535 (GRCm39) |
M19K |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,712,233 (GRCm39) |
D123G |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,187,769 (GRCm39) |
|
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,119,885 (GRCm39) |
S853P |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,247,625 (GRCm39) |
M423T |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,852,221 (GRCm39) |
Y1248F |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,045,727 (GRCm39) |
Y112H |
probably damaging |
Het |
| Gbp7 |
G |
A |
3: 142,244,661 (GRCm39) |
A203T |
probably damaging |
Het |
| Gon4l |
C |
T |
3: 88,802,643 (GRCm39) |
P1085S |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,541,800 (GRCm39) |
F176L |
probably damaging |
Het |
| Haghl |
A |
G |
17: 26,003,239 (GRCm39) |
F131S |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,491,049 (GRCm39) |
P4167S |
probably damaging |
Het |
| Hscb |
T |
C |
5: 110,978,820 (GRCm39) |
N199D |
probably benign |
Het |
| Lmbr1l |
T |
A |
15: 98,802,666 (GRCm39) |
N428Y |
probably damaging |
Het |
| Mc2r |
T |
A |
18: 68,540,505 (GRCm39) |
M263L |
probably benign |
Het |
| Metap1 |
T |
A |
3: 138,168,150 (GRCm39) |
T325S |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,719,696 (GRCm39) |
R225G |
probably damaging |
Het |
| Naprt |
A |
T |
15: 75,763,221 (GRCm39) |
L474Q |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,109,473 (GRCm39) |
Y155* |
probably null |
Het |
| Nrg3 |
A |
T |
14: 38,092,724 (GRCm39) |
C612* |
probably null |
Het |
| Or2aj5 |
T |
C |
16: 19,425,300 (GRCm39) |
I39M |
possibly damaging |
Het |
| Or5p52 |
A |
T |
7: 107,502,497 (GRCm39) |
D191V |
possibly damaging |
Het |
| Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,099,667 (GRCm39) |
F200L |
probably damaging |
Het |
| Ppard |
T |
G |
17: 28,517,877 (GRCm39) |
F315C |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,381 (GRCm39) |
S585T |
probably damaging |
Het |
| Spdye4a |
T |
A |
5: 143,211,460 (GRCm39) |
I35F |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 36,097,922 (GRCm39) |
K442R |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,263,980 (GRCm39) |
I553T |
probably damaging |
Het |
| Tmem269 |
T |
A |
4: 119,071,338 (GRCm39) |
I26F |
probably benign |
Het |
| Tsen2 |
T |
C |
6: 115,536,568 (GRCm39) |
V108A |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,615,238 (GRCm39) |
D383E |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,910 (GRCm39) |
S1042P |
possibly damaging |
Het |
| Usp13 |
T |
C |
3: 32,901,974 (GRCm39) |
S102P |
probably damaging |
Het |
| Vmn2r118 |
T |
G |
17: 55,899,619 (GRCm39) |
S762R |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,415,407 (GRCm39) |
N799S |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,684,221 (GRCm39) |
F279I |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,157,006 (GRCm39) |
T223A |
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 |
|
IGL01948:Zdhhc17
|
APN |
10 |
110,782,137 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
Incidental Mutation