Incidental Mutation 'R5758:Zdhhc17'
| ID |
445150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdhhc17
|
| Ensembl Gene |
ENSMUSG00000035798 |
| Gene Name |
zinc finger, DHHC domain containing 17 |
| Synonyms |
Hip14, A230053P19Rik, D130071N24Rik |
| MMRRC Submission |
043203-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5758 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
110777641-110846001 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 110780256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 633
(*633Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020403]
[ENSMUST00000041723]
|
| AlphaFold |
Q80TN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020403
|
| SMART Domains |
Protein: ENSMUSP00000020403
Gene: ENSMUSG00000020186
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
9 |
61 |
3.56e-11 |
SMART |
|
LIM
|
118 |
170 |
7.39e-18 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000041723
AA Change: *633Q
|
| SMART Domains |
Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: *633Q
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220301
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,264,536 (GRCm39) |
N2973D |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,750,962 (GRCm39) |
E1911V |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,292,531 (GRCm39) |
N193S |
probably benign |
Het |
| Arhgap28 |
T |
C |
17: 68,180,154 (GRCm39) |
D81G |
probably benign |
Het |
| Calhm3 |
A |
G |
19: 47,140,190 (GRCm39) |
V301A |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,825,465 (GRCm39) |
G1556D |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,862,288 (GRCm39) |
L598P |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,638,717 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
A |
9: 54,380,248 (GRCm39) |
I142F |
probably benign |
Het |
| Dpy19l4 |
C |
T |
4: 11,276,886 (GRCm39) |
V338M |
probably damaging |
Het |
| Dpys |
A |
C |
15: 39,690,395 (GRCm39) |
D319E |
possibly damaging |
Het |
| Dsc3 |
A |
G |
18: 20,122,591 (GRCm39) |
V111A |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,888,442 (GRCm39) |
V14A |
probably benign |
Het |
| Hebp2 |
C |
A |
10: 18,420,155 (GRCm39) |
V93L |
probably damaging |
Het |
| Igkv8-21 |
A |
T |
6: 70,292,009 (GRCm39) |
S78T |
possibly damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,043 (GRCm39) |
D1036E |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,868,982 (GRCm39) |
|
probably null |
Het |
| Kif9 |
T |
C |
9: 110,318,947 (GRCm39) |
V143A |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,049,976 (GRCm39) |
I517V |
probably damaging |
Het |
| Llgl1 |
T |
C |
11: 60,599,393 (GRCm39) |
F458S |
probably damaging |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,067 (GRCm39) |
M161I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,720 (GRCm39) |
I1889F |
unknown |
Het |
| Mysm1 |
A |
G |
4: 94,840,598 (GRCm39) |
V606A |
probably damaging |
Het |
| Nipal3 |
T |
C |
4: 135,179,874 (GRCm39) |
D348G |
probably benign |
Het |
| Olfml2b |
G |
A |
1: 170,496,833 (GRCm39) |
|
probably null |
Het |
| Or5p5 |
T |
C |
7: 107,414,022 (GRCm39) |
V77A |
probably damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,369 (GRCm39) |
V197D |
probably benign |
Het |
| Orc5 |
T |
C |
5: 22,734,256 (GRCm39) |
D176G |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,559,470 (GRCm39) |
N1041S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
| Sar1a |
A |
G |
10: 61,520,851 (GRCm39) |
Y22C |
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,799,355 (GRCm39) |
|
probably null |
Het |
| Smim17 |
C |
T |
7: 6,427,788 (GRCm39) |
H25Y |
possibly damaging |
Het |
| Tcstv7a |
T |
C |
13: 120,289,791 (GRCm39) |
D135G |
probably damaging |
Het |
| Trim10 |
C |
T |
17: 37,188,044 (GRCm39) |
T420I |
possibly damaging |
Het |
| Trip13 |
G |
T |
13: 74,085,614 (GRCm39) |
S29R |
probably benign |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Uckl1 |
C |
A |
2: 181,211,746 (GRCm39) |
G420C |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,091,408 (GRCm39) |
V226D |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,467,680 (GRCm39) |
K2613E |
probably damaging |
Het |
| Zfp236 |
G |
A |
18: 82,689,834 (GRCm39) |
T215M |
probably damaging |
Het |
| Zfp563 |
A |
G |
17: 33,323,894 (GRCm39) |
H163R |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- GATGATCTTCTCTTCCTAGGCGTG -3'
(R):5'- GTCACTCATACTAACTGAATTCTCC -3'
Sequencing Primer
(F):5'- CTCTTCCTAGGCGTGGCAGTG -3'
(R):5'- AACTGAATTCTCCTTTCTTTTGGGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation