Incidental Mutation 'IGL03407:Zdhhc7'
| ID |
421635 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zdhhc7
|
| Ensembl Gene |
ENSMUSG00000031823 |
| Gene Name |
zinc finger, DHHC domain containing 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL03407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120807834-120828211 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120812131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 164
(N164D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034280]
[ENSMUST00000127664]
|
| AlphaFold |
Q91WU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034280
AA Change: N164D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034280
Gene: ENSMUSG00000031823
AA Change: N164D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
31 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
129 |
258 |
9.8e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124044
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150444
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,904,111 (GRCm39) |
V198A |
probably benign |
Het |
| Acot3 |
A |
T |
12: 84,105,415 (GRCm39) |
D294V |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,176,985 (GRCm39) |
Y647H |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,856,330 (GRCm39) |
L67F |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,280,741 (GRCm39) |
C139R |
probably damaging |
Het |
| Fscb |
G |
T |
12: 64,520,269 (GRCm39) |
A399D |
probably damaging |
Het |
| Gm21726 |
T |
C |
13: 90,731,760 (GRCm39) |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,223,017 (GRCm39) |
V423D |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,861,400 (GRCm39) |
I415N |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,242,978 (GRCm39) |
T964A |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,138,981 (GRCm39) |
|
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Or3a1d |
G |
T |
11: 74,238,371 (GRCm39) |
T13K |
possibly damaging |
Het |
| Or51m1 |
A |
T |
7: 103,578,158 (GRCm39) |
N43Y |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,074,255 (GRCm39) |
V870E |
probably damaging |
Het |
| Prss55 |
A |
T |
14: 64,314,539 (GRCm39) |
D210E |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,198 (GRCm39) |
I373M |
possibly damaging |
Het |
| Rbm12 |
C |
A |
2: 155,939,484 (GRCm39) |
G263* |
probably null |
Het |
| Rnf167 |
G |
T |
11: 70,541,879 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,477,237 (GRCm39) |
I715T |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,850,528 (GRCm39) |
W543R |
probably benign |
Het |
| St8sia1 |
T |
C |
6: 142,859,775 (GRCm39) |
N118S |
possibly damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,946,439 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,893,535 (GRCm39) |
S882P |
probably benign |
Het |
| Tmem25 |
A |
G |
9: 44,707,636 (GRCm39) |
S220P |
probably damaging |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Trex1 |
C |
T |
9: 108,887,395 (GRCm39) |
G199S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,545 (GRCm39) |
I32814V |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,185 (GRCm39) |
R840* |
probably null |
Het |
| Vps13b |
A |
T |
15: 35,640,012 (GRCm39) |
Q1294L |
possibly damaging |
Het |
|
| Other mutations in Zdhhc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01757:Zdhhc7
|
APN |
8 |
120,814,662 (GRCm39) |
missense |
probably benign |
|
|
IGL01988:Zdhhc7
|
APN |
8 |
120,809,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0362:Zdhhc7
|
UTSW |
8 |
120,813,386 (GRCm39) |
missense |
probably null |
0.32 |
|
R0588:Zdhhc7
|
UTSW |
8 |
120,810,106 (GRCm39) |
intron |
probably benign |
|
|
R0629:Zdhhc7
|
UTSW |
8 |
120,814,785 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1224:Zdhhc7
|
UTSW |
8 |
120,809,311 (GRCm39) |
missense |
probably benign |
|
|
R1317:Zdhhc7
|
UTSW |
8 |
120,811,639 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1796:Zdhhc7
|
UTSW |
8 |
120,812,157 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5891:Zdhhc7
|
UTSW |
8 |
120,811,639 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6495:Zdhhc7
|
UTSW |
8 |
120,813,395 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6711:Zdhhc7
|
UTSW |
8 |
120,810,066 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6833:Zdhhc7
|
UTSW |
8 |
120,811,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Zdhhc7
|
UTSW |
8 |
120,812,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7743:Zdhhc7
|
UTSW |
8 |
120,813,467 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9368:Zdhhc7
|
UTSW |
8 |
120,814,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Zdhhc7
|
UTSW |
8 |
120,813,425 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Posted On |
2016-08-02 |
Incidental Mutation