Incidental Mutation 'R9586:Zfp493'
| ID |
722808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp493
|
| Ensembl Gene |
ENSMUSG00000090659 |
| Gene Name |
zinc finger protein 493 |
| Synonyms |
2900054J07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R9586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67927812-67937201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67932017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 39
(S39G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164936]
[ENSMUST00000181319]
[ENSMUST00000220570]
|
| AlphaFold |
E9Q1L8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164936
AA Change: S39G
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132282
Gene: ENSMUSG00000090659
AA Change: S39G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
3.47e-32 |
SMART |
|
ZnF_C2H2
|
81 |
103 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
1.26e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181319
AA Change: S39G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137936
Gene: ENSMUSG00000090659
AA Change: S39G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
3.47e-32 |
SMART |
|
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220570
AA Change: S39G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip5 |
C |
T |
6: 97,206,572 (GRCm39) |
A84V |
possibly damaging |
Het |
| Cep170 |
G |
A |
1: 176,563,463 (GRCm39) |
P716L |
possibly damaging |
Het |
| Chrm3 |
A |
T |
13: 9,927,480 (GRCm39) |
C519S |
probably damaging |
Het |
| Dnase1l3 |
A |
T |
14: 7,967,796 (GRCm38) |
V299D |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,034,760 (GRCm39) |
Y382C |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,139,746 (GRCm39) |
L945P |
|
Het |
| Fstl4 |
A |
T |
11: 53,077,729 (GRCm39) |
I829L |
probably benign |
Het |
| Gm36210 |
T |
A |
7: 4,909,324 (GRCm39) |
R45* |
probably null |
Het |
| Homer2 |
C |
T |
7: 81,260,113 (GRCm39) |
R318Q |
probably benign |
Het |
| Ice2 |
G |
A |
9: 69,314,478 (GRCm39) |
E76K |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,754,623 (GRCm39) |
R703* |
probably null |
Het |
| Insyn2a |
T |
C |
7: 134,520,180 (GRCm39) |
T117A |
probably damaging |
Het |
| Lonp1 |
G |
A |
17: 56,924,839 (GRCm39) |
R523C |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,703,820 (GRCm39) |
V1881I |
possibly damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,244 (GRCm39) |
D249G |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,932,635 (GRCm39) |
|
probably null |
Het |
| Oog3 |
A |
T |
4: 143,884,966 (GRCm39) |
C323* |
probably null |
Het |
| Ovgp1 |
A |
G |
3: 105,881,138 (GRCm39) |
R3G |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,676,047 (GRCm39) |
I838M |
probably damaging |
Het |
| Rps6kc1 |
C |
A |
1: 190,514,774 (GRCm39) |
M1006I |
probably benign |
Het |
| Rpusd1 |
A |
G |
17: 25,947,292 (GRCm39) |
T37A |
probably damaging |
Het |
| Sema6d |
C |
A |
2: 124,496,096 (GRCm39) |
R47S |
probably damaging |
Het |
| Serpini2 |
G |
A |
3: 75,166,891 (GRCm39) |
T122I |
probably benign |
Het |
| Slc10a7 |
A |
G |
8: 79,456,266 (GRCm39) |
I289M |
probably damaging |
Het |
| Slc25a37 |
G |
T |
14: 69,482,421 (GRCm39) |
N293K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,458,039 (GRCm39) |
A3281T |
probably benign |
Het |
| Stard13 |
A |
T |
5: 150,985,832 (GRCm39) |
N559K |
possibly damaging |
Het |
| Tmem87b |
T |
A |
2: 128,660,260 (GRCm39) |
M1K |
probably null |
Het |
| Vmn1r199 |
C |
T |
13: 22,567,716 (GRCm39) |
R337C |
probably benign |
Het |
| Vmn1r55 |
T |
A |
7: 5,149,770 (GRCm39) |
N218Y |
probably benign |
Het |
| Vmn2r41 |
T |
G |
7: 8,141,742 (GRCm39) |
Q574P |
|
Het |
| Vmn2r45 |
T |
C |
7: 8,486,050 (GRCm39) |
N413D |
probably benign |
Het |
| Wdr33 |
T |
C |
18: 31,966,669 (GRCm39) |
S170P |
probably damaging |
Het |
| Zfp385a |
A |
T |
15: 103,241,580 (GRCm39) |
I20N |
probably damaging |
Het |
|
| Other mutations in Zfp493 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01419:Zfp493
|
APN |
13 |
67,934,921 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02367:Zfp493
|
APN |
13 |
67,935,089 (GRCm39) |
nonsense |
probably null |
|
|
R0647:Zfp493
|
UTSW |
13 |
67,931,994 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1478:Zfp493
|
UTSW |
13 |
67,934,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1617:Zfp493
|
UTSW |
13 |
67,931,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Zfp493
|
UTSW |
13 |
67,934,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:Zfp493
|
UTSW |
13 |
67,932,038 (GRCm39) |
splice site |
probably benign |
|
|
R4700:Zfp493
|
UTSW |
13 |
67,934,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Zfp493
|
UTSW |
13 |
67,934,322 (GRCm39) |
missense |
probably null |
0.97 |
|
R5376:Zfp493
|
UTSW |
13 |
67,934,437 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5395:Zfp493
|
UTSW |
13 |
67,931,965 (GRCm39) |
nonsense |
probably null |
|
|
R5909:Zfp493
|
UTSW |
13 |
67,934,717 (GRCm39) |
nonsense |
probably null |
|
|
R6066:Zfp493
|
UTSW |
13 |
67,935,069 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6419:Zfp493
|
UTSW |
13 |
67,934,526 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6561:Zfp493
|
UTSW |
13 |
67,934,338 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6625:Zfp493
|
UTSW |
13 |
67,934,514 (GRCm39) |
nonsense |
probably null |
|
|
R6714:Zfp493
|
UTSW |
13 |
67,934,499 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7678:Zfp493
|
UTSW |
13 |
67,927,814 (GRCm39) |
start gained |
probably benign |
|
|
R7782:Zfp493
|
UTSW |
13 |
67,935,123 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8262:Zfp493
|
UTSW |
13 |
67,934,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Zfp493
|
UTSW |
13 |
67,931,958 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9469:Zfp493
|
UTSW |
13 |
67,934,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0021:Zfp493
|
UTSW |
13 |
67,934,497 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGACTGCAAGTATGTTGAC -3'
(R):5'- GAGGGTGCATACCTCCACAAAC -3'
Sequencing Primer
(F):5'- ACTGCAAGTATGTTGACTATTCGG -3'
(R):5'- TCTAAAATATTTCTTAGCCCCATCAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation