Incidental Mutation 'IGL01795:Zdhhc5'
ID |
155324 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zdhhc5
|
Ensembl Gene |
ENSMUSG00000034075 |
Gene Name |
zinc finger, DHHC domain containing 5 |
Synonyms |
1110032A17Rik, Zisp |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
IGL01795
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
84518314-84545524 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84520390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 596
(S596G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035840]
[ENSMUST00000102645]
|
AlphaFold |
Q8VDZ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035840
AA Change: S596G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048198 Gene: ENSMUSG00000034075 AA Change: S596G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
99 |
224 |
1.6e-37 |
PFAM |
low complexity region
|
312 |
318 |
N/A |
INTRINSIC |
low complexity region
|
359 |
373 |
N/A |
INTRINSIC |
low complexity region
|
422 |
432 |
N/A |
INTRINSIC |
low complexity region
|
581 |
597 |
N/A |
INTRINSIC |
low complexity region
|
679 |
695 |
N/A |
INTRINSIC |
low complexity region
|
698 |
708 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102645
|
SMART Domains |
Protein: ENSMUSP00000099705 Gene: ENSMUSG00000027080
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
55 |
N/A |
INTRINSIC |
Pfam:Med19
|
63 |
234 |
4e-87 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141595
|
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 |
4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
Arfgef1 |
A |
T |
1: 10,217,753 (GRCm39) |
I1562K |
probably benign |
Het |
B4galt1 |
T |
A |
4: 40,807,760 (GRCm39) |
D347V |
probably damaging |
Het |
Ccdc178 |
T |
A |
18: 22,152,175 (GRCm39) |
R646S |
probably benign |
Het |
Ccr1 |
A |
T |
9: 123,764,149 (GRCm39) |
L127* |
probably null |
Het |
Cd109 |
A |
G |
9: 78,569,047 (GRCm39) |
|
probably benign |
Het |
Chd6 |
A |
G |
2: 160,803,294 (GRCm39) |
V2128A |
probably benign |
Het |
Chil6 |
T |
A |
3: 106,296,108 (GRCm39) |
I376F |
probably damaging |
Het |
Chit1 |
T |
C |
1: 134,076,167 (GRCm39) |
S275P |
probably damaging |
Het |
Dnaaf8 |
T |
G |
16: 4,791,935 (GRCm39) |
|
noncoding transcript |
Het |
Erap1 |
T |
A |
13: 74,814,209 (GRCm39) |
|
probably null |
Het |
F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
Fras1 |
G |
T |
5: 96,925,904 (GRCm39) |
V3703F |
probably damaging |
Het |
Hmmr |
C |
T |
11: 40,612,561 (GRCm39) |
M185I |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,403,733 (GRCm39) |
Y8C |
probably damaging |
Het |
Krt16 |
A |
G |
11: 100,138,550 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
A |
G |
8: 13,050,749 (GRCm39) |
|
probably null |
Het |
Mgat5 |
C |
T |
1: 127,396,968 (GRCm39) |
R572W |
probably damaging |
Het |
Neil2 |
T |
C |
14: 63,426,199 (GRCm39) |
D57G |
probably benign |
Het |
Nom1 |
A |
G |
5: 29,651,869 (GRCm39) |
T736A |
probably benign |
Het |
Or4k51 |
A |
T |
2: 111,584,731 (GRCm39) |
M46L |
probably benign |
Het |
Or5m5 |
T |
A |
2: 85,814,478 (GRCm39) |
I98N |
probably damaging |
Het |
Or6p1 |
A |
T |
1: 174,258,215 (GRCm39) |
I74F |
possibly damaging |
Het |
Prr14l |
A |
T |
5: 32,989,189 (GRCm39) |
|
probably benign |
Het |
Sall1 |
A |
G |
8: 89,755,308 (GRCm39) |
S1224P |
probably benign |
Het |
Slc44a2 |
A |
C |
9: 21,256,645 (GRCm39) |
K336Q |
probably damaging |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
C |
T |
2: 29,908,501 (GRCm39) |
T1754I |
probably benign |
Het |
|
Other mutations in Zdhhc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01669:Zdhhc5
|
APN |
2 |
84,521,538 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01862:Zdhhc5
|
APN |
2 |
84,520,836 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4449001:Zdhhc5
|
UTSW |
2 |
84,520,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R0270:Zdhhc5
|
UTSW |
2 |
84,520,459 (GRCm39) |
missense |
probably benign |
0.06 |
R0419:Zdhhc5
|
UTSW |
2 |
84,521,587 (GRCm39) |
splice site |
probably null |
|
R0543:Zdhhc5
|
UTSW |
2 |
84,522,824 (GRCm39) |
unclassified |
probably benign |
|
R1171:Zdhhc5
|
UTSW |
2 |
84,522,685 (GRCm39) |
missense |
probably benign |
0.00 |
R1450:Zdhhc5
|
UTSW |
2 |
84,532,733 (GRCm39) |
missense |
probably damaging |
0.99 |
R1922:Zdhhc5
|
UTSW |
2 |
84,523,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R2229:Zdhhc5
|
UTSW |
2 |
84,520,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R4799:Zdhhc5
|
UTSW |
2 |
84,523,775 (GRCm39) |
missense |
probably damaging |
0.97 |
R5473:Zdhhc5
|
UTSW |
2 |
84,520,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R5968:Zdhhc5
|
UTSW |
2 |
84,524,719 (GRCm39) |
splice site |
probably null |
|
R6299:Zdhhc5
|
UTSW |
2 |
84,520,825 (GRCm39) |
missense |
probably benign |
0.06 |
R6550:Zdhhc5
|
UTSW |
2 |
84,526,685 (GRCm39) |
missense |
probably benign |
0.03 |
R7069:Zdhhc5
|
UTSW |
2 |
84,545,355 (GRCm39) |
start gained |
probably benign |
|
R7169:Zdhhc5
|
UTSW |
2 |
84,532,675 (GRCm39) |
critical splice donor site |
probably null |
|
R7383:Zdhhc5
|
UTSW |
2 |
84,524,748 (GRCm39) |
missense |
probably benign |
0.44 |
R8703:Zdhhc5
|
UTSW |
2 |
84,520,596 (GRCm39) |
missense |
probably benign |
0.06 |
R9647:Zdhhc5
|
UTSW |
2 |
84,524,750 (GRCm39) |
missense |
probably benign |
0.01 |
R9789:Zdhhc5
|
UTSW |
2 |
84,524,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |