Incidental Mutation 'R0436:Zdhhc17'
ID |
39017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zdhhc17
|
Ensembl Gene |
ENSMUSG00000035798 |
Gene Name |
zinc finger, DHHC domain containing 17 |
Synonyms |
Hip14, A230053P19Rik, D130071N24Rik |
MMRRC Submission |
038637-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0436 (G1)
|
Quality Score |
178 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
110777641-110846001 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to T
at 110817851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151330
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041723]
[ENSMUST00000219307]
|
AlphaFold |
Q80TN5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041723
|
SMART Domains |
Protein: ENSMUSP00000043279 Gene: ENSMUSG00000035798
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 |
noncoding transcript
Transcript: ENSMUST00000217793
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218981
|
Predicted Effect |
probably null
Transcript: ENSMUST00000219307
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220247
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.4%
|
Validation Efficiency |
100% (66/66) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
C |
4: 62,461,682 (GRCm39) |
|
probably benign |
Het |
Abcb10 |
C |
T |
8: 124,697,740 (GRCm39) |
G195S |
probably benign |
Het |
Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
Alx4 |
A |
T |
2: 93,498,702 (GRCm39) |
K145* |
probably null |
Het |
Arl8a |
G |
A |
1: 135,074,718 (GRCm39) |
M1I |
probably null |
Het |
Btbd16 |
G |
A |
7: 130,387,783 (GRCm39) |
S134N |
probably benign |
Het |
Ccdc136 |
T |
A |
6: 29,414,933 (GRCm39) |
L474Q |
probably damaging |
Het |
Cebpz |
A |
G |
17: 79,243,079 (GRCm39) |
Y192H |
probably benign |
Het |
Cep95 |
A |
G |
11: 106,709,511 (GRCm39) |
Q109R |
probably null |
Het |
Cfap54 |
G |
T |
10: 92,874,837 (GRCm39) |
Q520K |
possibly damaging |
Het |
Cog2 |
C |
T |
8: 125,275,253 (GRCm39) |
|
probably benign |
Het |
Cul1 |
A |
G |
6: 47,500,707 (GRCm39) |
N702S |
probably benign |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,291,034 (GRCm39) |
D2472G |
probably damaging |
Het |
Drgx |
T |
C |
14: 32,330,040 (GRCm39) |
F81S |
probably damaging |
Het |
Ect2 |
A |
G |
3: 27,204,244 (GRCm39) |
F22L |
probably benign |
Het |
Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
Eif4ebp3 |
A |
G |
18: 36,797,354 (GRCm39) |
|
probably null |
Het |
Exd2 |
T |
C |
12: 80,537,544 (GRCm39) |
|
probably benign |
Het |
Gtf2a1 |
A |
C |
12: 91,535,047 (GRCm39) |
|
probably null |
Het |
H2-DMb1 |
A |
G |
17: 34,378,630 (GRCm39) |
Y256C |
probably damaging |
Het |
Haus6 |
T |
C |
4: 86,504,044 (GRCm39) |
R527G |
probably benign |
Het |
Helb |
C |
T |
10: 119,930,117 (GRCm39) |
|
probably benign |
Het |
Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
Hk1 |
A |
T |
10: 62,135,054 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,295,624 (GRCm39) |
K2611R |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,557 (GRCm39) |
H236R |
possibly damaging |
Het |
Hunk |
T |
A |
16: 90,261,042 (GRCm39) |
Y178N |
probably damaging |
Het |
Iftap |
T |
C |
2: 101,440,864 (GRCm39) |
|
probably benign |
Het |
Jakmip2 |
G |
A |
18: 43,691,234 (GRCm39) |
Q616* |
probably null |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Msantd4 |
C |
T |
9: 4,385,180 (GRCm39) |
R302C |
probably damaging |
Het |
Nae1 |
T |
C |
8: 105,249,868 (GRCm39) |
|
probably benign |
Het |
Nek4 |
C |
T |
14: 30,692,429 (GRCm39) |
L293F |
probably damaging |
Het |
Odf2l |
C |
T |
3: 144,831,877 (GRCm39) |
T44I |
possibly damaging |
Het |
Or52s19 |
A |
G |
7: 103,007,948 (GRCm39) |
V151A |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,915,360 (GRCm39) |
|
probably benign |
Het |
Ppp1r21 |
C |
T |
17: 88,873,117 (GRCm39) |
T425I |
possibly damaging |
Het |
Prrc2b |
A |
G |
2: 32,120,672 (GRCm39) |
E2204G |
probably damaging |
Het |
Prrc2c |
A |
C |
1: 162,532,883 (GRCm39) |
|
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,980,028 (GRCm39) |
|
probably benign |
Het |
Slc12a8 |
T |
A |
16: 33,371,455 (GRCm39) |
V197E |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,913,183 (GRCm39) |
W593R |
possibly damaging |
Het |
Tmem63a |
A |
T |
1: 180,800,298 (GRCm39) |
T696S |
probably benign |
Het |
Tnks2 |
A |
G |
19: 36,826,758 (GRCm39) |
D165G |
possibly damaging |
Het |
Trim43a |
T |
C |
9: 88,470,240 (GRCm39) |
W349R |
probably damaging |
Het |
Unc45b |
T |
C |
11: 82,820,393 (GRCm39) |
|
probably benign |
Het |
Vmn1r4 |
T |
A |
6: 56,933,947 (GRCm39) |
N150K |
probably damaging |
Het |
Wdfy4 |
C |
A |
14: 32,805,769 (GRCm39) |
|
probably benign |
Het |
Wdr77 |
T |
A |
3: 105,867,342 (GRCm39) |
D63E |
probably damaging |
Het |
Zan |
T |
C |
5: 137,463,164 (GRCm39) |
T672A |
unknown |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAATAAATCCCAGTCCCACTCTACCCTT -3'
(R):5'- CAATGAACCATTAAGCCAGTcacacaag -3'
Sequencing Primer
(F):5'- TACTTGGCAGCATAGTCAAGC -3'
(R):5'- gggagctgaggcaagagg -3'
|
Posted On |
2013-05-23 |