Incidental Mutation 'R5647:Zdhhc17'
| ID |
441230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdhhc17
|
| Ensembl Gene |
ENSMUSG00000035798 |
| Gene Name |
zinc finger, DHHC domain containing 17 |
| Synonyms |
Hip14, A230053P19Rik, D130071N24Rik |
| MMRRC Submission |
043295-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5647 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
110777641-110846001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110809694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 153
(I153N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041723]
[ENSMUST00000219307]
|
| AlphaFold |
Q80TN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041723
AA Change: I153N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: I153N
| 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 benign
Transcript: ENSMUST00000219307
AA Change: I15N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220247
AA Change: I141N
|
| Meta Mutation Damage Score |
0.1014 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
95% (55/58) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010L04Rik |
T |
C |
7: 82,505,606 (GRCm39) |
|
noncoding transcript |
Het |
| 9330159F19Rik |
A |
T |
10: 29,101,250 (GRCm39) |
D541V |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,218,597 (GRCm39) |
I262V |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,185,976 (GRCm39) |
D169V |
probably damaging |
Het |
| Aldh16a1 |
A |
G |
7: 44,803,889 (GRCm39) |
V6A |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,731,210 (GRCm39) |
S601P |
possibly damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,763 (GRCm39) |
S113A |
probably damaging |
Het |
| Cdt1 |
G |
T |
8: 123,296,947 (GRCm39) |
R247L |
possibly damaging |
Het |
| Ces4a |
G |
A |
8: 105,872,712 (GRCm39) |
V322M |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,364,266 (GRCm39) |
T157S |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,010 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
G |
T |
7: 110,654,751 (GRCm39) |
R1094L |
unknown |
Het |
| Cyld |
A |
T |
8: 89,461,554 (GRCm39) |
I664L |
probably benign |
Het |
| Dvl2 |
C |
T |
11: 69,900,275 (GRCm39) |
P690S |
possibly damaging |
Het |
| Fbxo7 |
A |
C |
10: 85,864,974 (GRCm39) |
E94D |
probably damaging |
Het |
| Fstl5 |
A |
C |
3: 76,496,399 (GRCm39) |
K387N |
probably damaging |
Het |
| Gm9845 |
A |
C |
3: 39,412,520 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
T |
C |
10: 62,111,523 (GRCm39) |
D746G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,468,391 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,350,258 (GRCm39) |
A705T |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,508,300 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,952,067 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
A |
11: 115,762,337 (GRCm39) |
L1219Q |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
G |
T |
2: 111,137,392 (GRCm39) |
A281S |
possibly damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,553 (GRCm39) |
I32N |
probably damaging |
Het |
| Or5b113 |
T |
C |
19: 13,342,541 (GRCm39) |
V183A |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,221,675 (GRCm39) |
T1984A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,593,588 (GRCm39) |
L251P |
probably benign |
Het |
| Plin1 |
T |
A |
7: 79,371,320 (GRCm39) |
D468V |
probably benign |
Het |
| Pmp2 |
A |
G |
3: 10,248,845 (GRCm39) |
V12A |
probably benign |
Het |
| Rnf19a |
T |
A |
15: 36,266,109 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
G |
A |
9: 45,779,344 (GRCm39) |
Q469* |
probably null |
Het |
| Rrp1b |
T |
G |
17: 32,274,985 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Sema3e |
A |
T |
5: 14,275,567 (GRCm39) |
E224V |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,385,720 (GRCm39) |
S5P |
probably damaging |
Het |
| Stab1 |
A |
C |
14: 30,879,397 (GRCm39) |
Y694* |
probably null |
Het |
| Stambpl1 |
T |
C |
19: 34,211,686 (GRCm39) |
L249P |
probably benign |
Het |
| Thap4 |
A |
T |
1: 93,642,665 (GRCm39) |
H515Q |
probably damaging |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Uaca |
A |
G |
9: 60,779,380 (GRCm39) |
R1256G |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,489,881 (GRCm39) |
N348Y |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,314 (GRCm39) |
I85T |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,975,598 (GRCm39) |
L149Q |
probably damaging |
Het |
| Zfp207 |
G |
A |
11: 80,283,959 (GRCm39) |
S293N |
possibly damaging |
Het |
| Zfp346 |
A |
G |
13: 55,270,170 (GRCm39) |
D198G |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,536 (GRCm39) |
C139S |
possibly 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 |
|
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 |
|
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'- TCCTCCTCCATCAGAAACTACT -3'
(R):5'- CTCCTGTGTCTTGTTTTAAAGCAAC -3'
Sequencing Primer
(F):5'- TCCTCCATCAGAAACTACTACTTAAG -3'
(R):5'- GCAACTTGATAAAATGTGTGCTTTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation