Incidental Mutation 'IGL01757:Zdhhc7'
| ID |
153215 |
| 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: 0.090)
|
| Stock # |
IGL01757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120807834-120828211 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120814662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 49
(V49A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034280]
[ENSMUST00000127664]
|
| AlphaFold |
Q91WU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034280
AA Change: V49A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034280
Gene: ENSMUSG00000031823
AA Change: V49A
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,639,705 (GRCm39) |
|
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,773,140 (GRCm39) |
Y1789C |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,009,066 (GRCm39) |
Y537* |
probably null |
Het |
| Chic2 |
T |
C |
5: 75,167,428 (GRCm39) |
|
probably benign |
Het |
| Cpa5 |
G |
A |
6: 30,625,926 (GRCm39) |
|
probably benign |
Het |
| Csgalnact2 |
T |
C |
6: 118,106,307 (GRCm39) |
R4G |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,845,991 (GRCm39) |
V1510D |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,376,915 (GRCm39) |
F91L |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,711,203 (GRCm39) |
K189E |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,874,420 (GRCm39) |
L123Q |
probably damaging |
Het |
| Ifna15 |
T |
C |
4: 88,476,322 (GRCm39) |
K54R |
possibly damaging |
Het |
| Isg15 |
A |
G |
4: 156,284,301 (GRCm39) |
C76R |
probably damaging |
Het |
| Ldb2 |
A |
T |
5: 44,699,209 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,021,185 (GRCm39) |
I865T |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,926,701 (GRCm39) |
Y154C |
probably damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,145,537 (GRCm39) |
R117H |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,959,183 (GRCm39) |
I96V |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,491,337 (GRCm39) |
|
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,220,704 (GRCm39) |
R269W |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,828,414 (GRCm39) |
V8A |
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,232,559 (GRCm39) |
D515G |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,032,952 (GRCm39) |
Q58* |
probably null |
Het |
| Sult2a5 |
T |
C |
7: 13,399,079 (GRCm39) |
S229P |
probably damaging |
Het |
| Tfap2d |
A |
G |
1: 19,174,804 (GRCm39) |
T86A |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,041,785 (GRCm39) |
V1257A |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,453,427 (GRCm39) |
V152A |
possibly damaging |
Het |
| Zfp648 |
T |
C |
1: 154,080,671 (GRCm39) |
S277P |
probably damaging |
Het |
|
| Other mutations in Zdhhc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01988:Zdhhc7
|
APN |
8 |
120,809,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03407:Zdhhc7
|
APN |
8 |
120,812,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2014-02-04 |
Incidental Mutation