Incidental Mutation 'R1317:Zdhhc7'
ID |
157569 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zdhhc7
|
Ensembl Gene |
ENSMUSG00000031823 |
Gene Name |
zinc finger, DHHC domain containing 7 |
Synonyms |
|
MMRRC Submission |
039383-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R1317 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
120807834-120828211 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120811639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 188
(H188L)
|
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: H188L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000034280 Gene: ENSMUSG00000031823 AA Change: H188L
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
|
Meta Mutation Damage Score |
0.5697 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.9%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
Afdn |
A |
G |
17: 14,066,535 (GRCm39) |
T576A |
probably benign |
Het |
Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
Ccdc7b |
A |
T |
8: 129,863,127 (GRCm39) |
H223L |
probably benign |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cryba2 |
G |
T |
1: 74,929,835 (GRCm39) |
|
probably null |
Het |
Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
Ifi209 |
A |
G |
1: 173,465,029 (GRCm39) |
D53G |
possibly damaging |
Het |
Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
Jag2 |
T |
A |
12: 112,878,121 (GRCm39) |
M537L |
probably benign |
Het |
Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
Mt1 |
T |
C |
8: 94,906,781 (GRCm39) |
|
probably benign |
Het |
Myo15b |
C |
A |
11: 115,774,460 (GRCm39) |
P2024Q |
probably null |
Het |
Nphs1 |
C |
T |
7: 30,181,256 (GRCm39) |
|
probably benign |
Het |
Rbm27 |
G |
A |
18: 42,457,116 (GRCm39) |
|
probably benign |
Het |
Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
Slc25a23 |
T |
C |
17: 57,360,888 (GRCm39) |
K179E |
possibly damaging |
Het |
Smad5 |
T |
C |
13: 56,883,884 (GRCm39) |
|
probably benign |
Het |
Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
Tspan32 |
A |
G |
7: 142,571,328 (GRCm39) |
M159V |
probably benign |
Het |
Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
Zbtb1 |
A |
G |
12: 76,433,573 (GRCm39) |
S520G |
probably benign |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGGAGTAAGGCTCCCTCCCATC -3'
(R):5'- ACATCACCTGTTGGCTGTACGTTTG -3'
Sequencing Primer
(F):5'- TCCAGGAACCCAGCTCTC -3'
(R):5'- TGTCACCATTGTCATACACAGGG -3'
|
Posted On |
2014-02-18 |