Incidental Mutation 'R8471:Zdhhc3'
| ID |
657031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zdhhc3
|
| Ensembl Gene |
ENSMUSG00000025786 |
| Gene Name |
zinc finger, DHHC domain containing 3 |
| Synonyms |
Zfp373, 2210017C02Rik, 1810006O10Rik, 1110020O22Rik, GODZ |
| MMRRC Submission |
067915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122895224-122942269 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122929440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 65
(V65D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026892]
[ENSMUST00000123937]
[ENSMUST00000129862]
[ENSMUST00000130717]
[ENSMUST00000138622]
[ENSMUST00000140497]
[ENSMUST00000147563]
[ENSMUST00000150679]
[ENSMUST00000152396]
[ENSMUST00000155778]
|
| AlphaFold |
Q8R173 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026892
AA Change: V65D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026892
Gene: ENSMUSG00000025786
AA Change: V65D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123937
AA Change: V65D
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114613
Gene: ENSMUSG00000025786
AA Change: V65D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129862
|
| SMART Domains |
Protein: ENSMUSP00000119360
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130717
AA Change: V65D
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000121712
Gene: ENSMUSG00000025786
AA Change: V65D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138622
AA Change: V65D
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119750
Gene: ENSMUSG00000025786
AA Change: V65D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140497
AA Change: V65D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122604
Gene: ENSMUSG00000025786
AA Change: V65D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147563
AA Change: V65D
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117392
Gene: ENSMUSG00000025786
AA Change: V65D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
92 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
125 |
255 |
3.8e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150679
AA Change: V65D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116526
Gene: ENSMUSG00000025786
AA Change: V65D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152396
AA Change: V65D
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116222
Gene: ENSMUSG00000025786
AA Change: V65D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155778
AA Change: V65D
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119416
Gene: ENSMUSG00000025786
AA Change: V65D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,223 (GRCm39) |
C200S |
probably damaging |
Het |
| Abca1 |
G |
A |
4: 53,044,187 (GRCm39) |
H1812Y |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,594,591 (GRCm39) |
D4141V |
probably benign |
Het |
| Arhgef38 |
A |
T |
3: 132,940,472 (GRCm39) |
V38E |
probably damaging |
Het |
| Arl15 |
T |
A |
13: 114,037,632 (GRCm39) |
|
probably benign |
Het |
| Cwh43 |
T |
A |
5: 73,591,644 (GRCm39) |
L493Q |
probably damaging |
Het |
| Dnah7b |
C |
T |
1: 46,138,650 (GRCm39) |
H231Y |
possibly damaging |
Het |
| Eif2d |
C |
A |
1: 131,092,155 (GRCm39) |
Q309K |
probably benign |
Het |
| Epop |
A |
G |
11: 97,520,073 (GRCm39) |
V12A |
possibly damaging |
Het |
| Fkbp5 |
C |
T |
17: 28,634,943 (GRCm39) |
V189I |
probably benign |
Het |
| Ikzf2 |
T |
C |
1: 69,578,499 (GRCm39) |
M343V |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,407,192 (GRCm39) |
L1469* |
probably null |
Het |
| Man2b2 |
A |
T |
5: 36,979,183 (GRCm39) |
W286R |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,358,153 (GRCm39) |
Q1028K |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,013,885 (GRCm39) |
D455V |
possibly damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,437,989 (GRCm39) |
R86G |
probably damaging |
Het |
| Or10d5b |
A |
G |
9: 39,885,901 (GRCm39) |
S73P |
unknown |
Het |
| Or1e32 |
A |
T |
11: 73,705,309 (GRCm39) |
F200I |
probably benign |
Het |
| Or5af1 |
A |
G |
11: 58,722,597 (GRCm39) |
M206V |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,415,308 (GRCm39) |
P606S |
probably benign |
Het |
| Plec |
A |
G |
15: 76,070,620 (GRCm39) |
V894A |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,021,901 (GRCm39) |
N333S |
probably benign |
Het |
| Ptger4 |
A |
T |
15: 5,271,800 (GRCm39) |
M273K |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,464,411 (GRCm39) |
D1372G |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,575,245 (GRCm39) |
K571R |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,548,456 (GRCm38) |
|
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,997,078 (GRCm39) |
V1198A |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,484,125 (GRCm39) |
V3879A |
probably damaging |
Het |
| Serpinb6d |
A |
T |
13: 33,848,137 (GRCm39) |
I34F |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,253,265 (GRCm39) |
I62S |
probably null |
Het |
| Snx9 |
T |
A |
17: 5,940,365 (GRCm39) |
W39R |
probably damaging |
Het |
| Tbcb |
A |
T |
7: 29,931,100 (GRCm39) |
S7T |
probably benign |
Het |
| Ttc21a |
C |
A |
9: 119,792,242 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
G |
A |
17: 87,601,454 (GRCm39) |
G63R |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,831,426 (GRCm39) |
Y193C |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,982,914 (GRCm39) |
I515N |
probably damaging |
Het |
|
| Other mutations in Zdhhc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02322:Zdhhc3
|
APN |
9 |
122,929,542 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02597:Zdhhc3
|
APN |
9 |
122,929,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Zdhhc3
|
APN |
9 |
122,929,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Zdhhc3
|
UTSW |
9 |
122,912,087 (GRCm39) |
intron |
probably benign |
|
|
R0787:Zdhhc3
|
UTSW |
9 |
122,912,688 (GRCm39) |
nonsense |
probably null |
|
|
R2049:Zdhhc3
|
UTSW |
9 |
122,929,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Zdhhc3
|
UTSW |
9 |
122,929,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Zdhhc3
|
UTSW |
9 |
122,909,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Zdhhc3
|
UTSW |
9 |
122,929,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Zdhhc3
|
UTSW |
9 |
122,920,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8379:Zdhhc3
|
UTSW |
9 |
122,918,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8982:Zdhhc3
|
UTSW |
9 |
122,929,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCTTACGTTTTCACCCAG -3'
(R):5'- TCCGAGACATTGAGCGGAAAC -3'
Sequencing Primer
(F):5'- ATCCCCAAGATCCATGGAGGG -3'
(R):5'- TTGAGCGGAAACCAGAGTACCTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation