Incidental Mutation 'IGL02628:Zng1'
ID |
301164 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zng1
|
Ensembl Gene |
ENSMUSG00000024878 |
Gene Name |
Zn regulated GTPase metalloprotein activator 1 |
Synonyms |
Cbwd1, Zng1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
IGL02628
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
24897280-24938974 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24935269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 78
(E78D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025815]
|
AlphaFold |
Q8VEH6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025815
AA Change: E78D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025815 Gene: ENSMUSG00000024878 AA Change: E78D
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
16 |
N/A |
INTRINSIC |
Pfam:cobW
|
41 |
229 |
7.1e-51 |
PFAM |
CobW_C
|
271 |
374 |
5.34e-1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr10 |
T |
A |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
Ankhd1 |
T |
C |
18: 36,780,756 (GRCm39) |
V1936A |
probably benign |
Het |
Ap3m1 |
C |
A |
14: 21,095,588 (GRCm39) |
E81* |
probably null |
Het |
Camkk1 |
T |
C |
11: 72,919,995 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cmc1 |
A |
G |
9: 117,894,376 (GRCm39) |
Y33H |
probably damaging |
Het |
Cntnap5b |
A |
T |
1: 99,999,794 (GRCm39) |
D184V |
probably damaging |
Het |
F5 |
A |
T |
1: 164,021,644 (GRCm39) |
D1373V |
probably damaging |
Het |
Fam169a |
T |
C |
13: 97,247,796 (GRCm39) |
|
probably benign |
Het |
Fem1c |
G |
A |
18: 46,639,019 (GRCm39) |
R328W |
probably damaging |
Het |
Gba2 |
T |
C |
4: 43,568,919 (GRCm39) |
R579G |
probably benign |
Het |
Gm42641 |
G |
A |
9: 108,887,698 (GRCm39) |
Q98* |
probably null |
Het |
Hsd17b7 |
A |
G |
1: 169,792,058 (GRCm39) |
F117L |
possibly damaging |
Het |
Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
Map1a |
T |
C |
2: 121,130,585 (GRCm39) |
I467T |
probably damaging |
Het |
Map2k4 |
T |
A |
11: 65,581,567 (GRCm39) |
I382F |
possibly damaging |
Het |
Myh1 |
T |
G |
11: 67,097,088 (GRCm39) |
|
probably benign |
Het |
Nr1h4 |
C |
T |
10: 89,309,701 (GRCm39) |
A339T |
probably damaging |
Het |
Opn4 |
T |
A |
14: 34,315,014 (GRCm39) |
T420S |
probably benign |
Het |
Or5h22 |
A |
C |
16: 58,895,155 (GRCm39) |
M96R |
probably benign |
Het |
Or6n1 |
A |
G |
1: 173,916,756 (GRCm39) |
Y50C |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Slc17a3 |
T |
A |
13: 24,026,434 (GRCm39) |
M1K |
probably null |
Het |
T |
T |
A |
17: 8,654,190 (GRCm39) |
I125N |
probably damaging |
Het |
Tns2 |
T |
A |
15: 102,020,263 (GRCm39) |
S710T |
probably benign |
Het |
Trav3-1 |
T |
A |
14: 52,818,551 (GRCm39) |
V75E |
probably benign |
Het |
U2surp |
A |
G |
9: 95,354,143 (GRCm39) |
Y832H |
possibly damaging |
Het |
|
Other mutations in Zng1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00720:Zng1
|
APN |
19 |
24,898,495 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01618:Zng1
|
APN |
19 |
24,918,140 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02351:Zng1
|
APN |
19 |
24,909,026 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02358:Zng1
|
APN |
19 |
24,909,026 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03001:Zng1
|
APN |
19 |
24,900,002 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03053:Zng1
|
APN |
19 |
24,932,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03409:Zng1
|
APN |
19 |
24,900,130 (GRCm39) |
missense |
probably benign |
0.01 |
R0544:Zng1
|
UTSW |
19 |
24,926,575 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0655:Zng1
|
UTSW |
19 |
24,930,684 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0833:Zng1
|
UTSW |
19 |
24,918,203 (GRCm39) |
splice site |
probably benign |
|
R1296:Zng1
|
UTSW |
19 |
24,920,039 (GRCm39) |
splice site |
probably benign |
|
R1723:Zng1
|
UTSW |
19 |
24,925,458 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1888:Zng1
|
UTSW |
19 |
24,932,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Zng1
|
UTSW |
19 |
24,932,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R4526:Zng1
|
UTSW |
19 |
24,935,328 (GRCm39) |
missense |
probably benign |
0.20 |
R5092:Zng1
|
UTSW |
19 |
24,898,383 (GRCm39) |
critical splice donor site |
probably null |
|
R5238:Zng1
|
UTSW |
19 |
24,897,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R5852:Zng1
|
UTSW |
19 |
24,932,769 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7248:Zng1
|
UTSW |
19 |
24,898,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R7699:Zng1
|
UTSW |
19 |
24,920,045 (GRCm39) |
critical splice donor site |
probably null |
|
R7700:Zng1
|
UTSW |
19 |
24,920,045 (GRCm39) |
critical splice donor site |
probably null |
|
R7733:Zng1
|
UTSW |
19 |
24,918,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R8363:Zng1
|
UTSW |
19 |
24,920,091 (GRCm39) |
missense |
probably benign |
0.01 |
R8825:Zng1
|
UTSW |
19 |
24,926,601 (GRCm39) |
missense |
probably benign |
0.23 |
R8931:Zng1
|
UTSW |
19 |
24,932,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R9118:Zng1
|
UTSW |
19 |
24,920,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R9467:Zng1
|
UTSW |
19 |
24,930,684 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Posted On |
2015-04-16 |