Incidental Mutation 'R4526:Zng1'
| ID |
334463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zng1
|
| Ensembl Gene |
ENSMUSG00000024878 |
| Gene Name |
Zn regulated GTPase metalloprotein activator 1 |
| Synonyms |
Cbwd1, Zng1 |
| MMRRC Submission |
041591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R4526 (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 24935328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 59
(Y59H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025815]
|
| AlphaFold |
Q8VEH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025815
AA Change: Y59H
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025815
Gene: ENSMUSG00000024878
AA Change: Y59H
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,818,535 (GRCm39) |
R178C |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
C |
A |
17: 56,092,016 (GRCm39) |
S92* |
probably null |
Het |
| Arl13b |
T |
C |
16: 62,632,374 (GRCm39) |
D73G |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Crebzf |
A |
C |
7: 90,092,968 (GRCm39) |
E16A |
possibly damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,022,778 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
A |
14: 31,007,955 (GRCm39) |
D2151Y |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,888,216 (GRCm39) |
K544E |
probably damaging |
Het |
| Gm17542 |
T |
C |
10: 58,549,435 (GRCm39) |
D31G |
probably null |
Het |
| Lcn9 |
A |
C |
2: 25,714,520 (GRCm39) |
K128T |
possibly damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,844 (GRCm39) |
E164G |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,544,373 (GRCm39) |
|
probably null |
Het |
| Ly75 |
G |
A |
2: 60,161,117 (GRCm39) |
T900M |
probably benign |
Het |
| Mapk15 |
A |
T |
15: 75,867,104 (GRCm39) |
I74F |
possibly damaging |
Het |
| Myh10 |
C |
T |
11: 68,705,875 (GRCm39) |
T2007I |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,978 (GRCm39) |
S937P |
probably damaging |
Het |
| Oas1b |
T |
A |
5: 120,960,167 (GRCm39) |
|
probably null |
Het |
| Or4x6 |
T |
C |
2: 89,949,016 (GRCm39) |
K309E |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,753 (GRCm39) |
T275A |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,753,339 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Otogl |
G |
A |
10: 107,722,841 (GRCm39) |
P297S |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,286,130 (GRCm39) |
S102P |
probably damaging |
Het |
| Plvap |
G |
A |
8: 71,960,415 (GRCm39) |
R334W |
probably damaging |
Het |
| Polr2b |
T |
G |
5: 77,474,561 (GRCm39) |
V466G |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,649,335 (GRCm39) |
I246T |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,301,113 (GRCm39) |
K281N |
probably damaging |
Het |
| Scamp4 |
T |
C |
10: 80,446,891 (GRCm39) |
F108S |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,071,022 (GRCm39) |
N1101S |
probably benign |
Het |
| Sntb2 |
C |
A |
8: 107,736,595 (GRCm39) |
L490M |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,359,383 (GRCm39) |
V79A |
possibly damaging |
Het |
| Stard7 |
A |
G |
2: 127,139,128 (GRCm39) |
S347G |
probably benign |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,445,145 (GRCm39) |
V860A |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,667 (GRCm39) |
T677A |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,284 (GRCm39) |
H1762Q |
probably benign |
Het |
| Zmynd8 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
2: 165,649,527 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTTCATATCGTAATACCATCC -3'
(R):5'- AAAGCCCTCTGTTCTGATTTTAAG -3'
Sequencing Primer
(F):5'- GGTCCCAAACATTACTGC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation