Incidental Mutation 'IGL01752:Zdhhc2'
| ID |
278846 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zdhhc2
|
| Ensembl Gene |
ENSMUSG00000039470 |
| Gene Name |
zinc finger, DHHC domain containing 2 |
| Synonyms |
6430583A19Rik, 5730415P04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01752
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
40876526-40946178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40926042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 346
(A346T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049389]
[ENSMUST00000128166]
[ENSMUST00000167766]
|
| AlphaFold |
P59267 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049389
AA Change: A346T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041727
Gene: ENSMUSG00000039470
AA Change: A346T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
66 |
248 |
4.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128166
AA Change: A346T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123070
Gene: ENSMUSG00000039470
AA Change: A346T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
122 |
248 |
1.8e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167766
AA Change: A346T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129996
Gene: ENSMUSG00000039470
AA Change: A346T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
66 |
248 |
4.1e-43 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,318 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
A |
T |
2: 179,532,677 (GRCm39) |
N713I |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,423,286 (GRCm39) |
S639P |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,902,512 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,022,542 (GRCm39) |
T237M |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,209,049 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,700,210 (GRCm39) |
K347E |
possibly damaging |
Het |
| Gucy2c |
C |
A |
6: 136,747,106 (GRCm39) |
A118S |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lox |
A |
G |
18: 52,653,926 (GRCm39) |
V390A |
possibly damaging |
Het |
| Lyn |
A |
T |
4: 3,743,286 (GRCm39) |
M69L |
probably benign |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,415 (GRCm39) |
F107L |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcnx3 |
T |
A |
19: 5,715,365 (GRCm39) |
K1962* |
probably null |
Het |
| Pde3a |
T |
C |
6: 141,433,339 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 15,175,212 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
| Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
G |
2: 130,530,065 (GRCm39) |
T238P |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,352,553 (GRCm39) |
K279N |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,552,568 (GRCm39) |
I275N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,137 (GRCm39) |
E25252G |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,779 (GRCm39) |
T84A |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,232 (GRCm39) |
K127M |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,093 (GRCm39) |
M586K |
probably benign |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,855,510 (GRCm39) |
I2525N |
probably damaging |
Het |
| Zfp52 |
T |
G |
17: 21,780,412 (GRCm39) |
C87G |
probably benign |
Het |
|
| Other mutations in Zdhhc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01697:Zdhhc2
|
APN |
8 |
40,920,460 (GRCm39) |
splice site |
probably benign |
|
|
IGL01751:Zdhhc2
|
APN |
8 |
40,926,042 (GRCm39) |
missense |
probably benign |
|
|
IGL01800:Zdhhc2
|
APN |
8 |
40,917,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02475:Zdhhc2
|
APN |
8 |
40,926,066 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02554:Zdhhc2
|
APN |
8 |
40,915,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0662:Zdhhc2
|
UTSW |
8 |
40,900,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0720:Zdhhc2
|
UTSW |
8 |
40,925,948 (GRCm39) |
splice site |
probably null |
|
|
R1511:Zdhhc2
|
UTSW |
8 |
40,921,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4738:Zdhhc2
|
UTSW |
8 |
40,917,183 (GRCm39) |
splice site |
probably null |
|
|
R5114:Zdhhc2
|
UTSW |
8 |
40,898,825 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5935:Zdhhc2
|
UTSW |
8 |
40,917,277 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6029:Zdhhc2
|
UTSW |
8 |
40,925,968 (GRCm39) |
missense |
probably null |
|
|
R7210:Zdhhc2
|
UTSW |
8 |
40,920,480 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7792:Zdhhc2
|
UTSW |
8 |
40,900,182 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8756:Zdhhc2
|
UTSW |
8 |
40,920,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Zdhhc2
|
UTSW |
8 |
40,898,846 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9142:Zdhhc2
|
UTSW |
8 |
40,920,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9677:Zdhhc2
|
UTSW |
8 |
40,909,712 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation