Incidental Mutation 'R5852:Zng1'
ID |
454739 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zng1
|
Ensembl Gene |
ENSMUSG00000024878 |
Gene Name |
Zn regulated GTPase metalloprotein activator 1 |
Synonyms |
Cbwd1, Zng1 |
MMRRC Submission |
043227-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R5852 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
24897280-24938974 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24932769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 88
(V88A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025815]
|
AlphaFold |
Q8VEH6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025815
AA Change: V88A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025815 Gene: ENSMUSG00000024878 AA Change: V88A
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,891,139 (GRCm39) |
I453F |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,720 (GRCm39) |
W402* |
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,070,134 (GRCm39) |
S134P |
probably damaging |
Het |
Ccdc154 |
T |
C |
17: 25,382,183 (GRCm39) |
V34A |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,397,377 (GRCm39) |
N65K |
probably damaging |
Het |
Cntn6 |
G |
T |
6: 104,812,706 (GRCm39) |
V663F |
probably damaging |
Het |
Crisp3 |
A |
T |
17: 40,536,711 (GRCm39) |
C201* |
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,344,955 (GRCm39) |
W2100R |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
Entrep2 |
T |
A |
7: 64,425,579 (GRCm39) |
H171L |
probably damaging |
Het |
Gucy1a2 |
T |
C |
9: 3,865,460 (GRCm39) |
F645L |
probably damaging |
Het |
Hs6st3 |
G |
T |
14: 120,106,738 (GRCm39) |
R382L |
probably damaging |
Het |
Il27 |
T |
A |
7: 126,191,786 (GRCm39) |
T89S |
possibly damaging |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Klhl23 |
T |
A |
2: 69,654,613 (GRCm39) |
I161N |
probably benign |
Het |
Lrrk2 |
G |
A |
15: 91,640,152 (GRCm39) |
E1566K |
probably damaging |
Het |
Mia3 |
A |
G |
1: 183,113,713 (GRCm39) |
V437A |
probably benign |
Het |
Ncoa6 |
G |
T |
2: 155,247,419 (GRCm39) |
H1962N |
possibly damaging |
Het |
Nox4 |
C |
T |
7: 86,988,172 (GRCm39) |
T361I |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,544,584 (GRCm39) |
Y1748C |
probably damaging |
Het |
Phyhip |
T |
C |
14: 70,699,369 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
G |
1: 20,447,632 (GRCm39) |
F2254L |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,935,518 (GRCm39) |
Y1018C |
probably damaging |
Het |
Pnoc |
C |
T |
14: 65,648,671 (GRCm39) |
V8I |
probably benign |
Het |
Prss29 |
A |
G |
17: 25,541,408 (GRCm39) |
D256G |
probably benign |
Het |
Scrn3 |
T |
C |
2: 73,161,349 (GRCm39) |
F312L |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,339 (GRCm39) |
E239G |
possibly damaging |
Het |
Tti1 |
A |
G |
2: 157,842,593 (GRCm39) |
L812P |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,694,518 (GRCm39) |
S62P |
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,346,487 (GRCm39) |
S1659P |
probably 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 |
|
IGL02628:Zng1
|
APN |
19 |
24,935,269 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTATATCCTACCCCAAAATACAATGG -3'
(R):5'- TGAAGAGTCATCAGTATACTTCCTG -3'
Sequencing Primer
(F):5'- TACCCCAAAATACAATGGTATAAGC -3'
(R):5'- CAGCGGTTAAGAGCACTTTC -3'
|
Posted On |
2017-02-10 |