Incidental Mutation 'R6561:Zfp493'
| ID |
523142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp493
|
| Ensembl Gene |
ENSMUSG00000090659 |
| Gene Name |
zinc finger protein 493 |
| Synonyms |
2900054J07Rik |
| MMRRC Submission |
044685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6561 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67927812-67937201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67934338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 65
(V65D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164936]
[ENSMUST00000181319]
[ENSMUST00000220570]
|
| AlphaFold |
E9Q1L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164936
AA Change: V97D
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132282
Gene: ENSMUSG00000090659
AA Change: V97D
| 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 |
noncoding transcript
Transcript: ENSMUST00000180507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181319
|
| SMART Domains |
Protein: ENSMUSP00000137936
Gene: ENSMUSG00000090659
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
3.47e-32 |
SMART |
|
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220570
AA Change: V65D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223540
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,977,825 (GRCm39) |
I468F |
probably benign |
Het |
| Ahsa2 |
T |
A |
11: 23,441,036 (GRCm39) |
I202F |
possibly damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,505,919 (GRCm39) |
V639A |
probably damaging |
Het |
| Cdh12 |
A |
G |
15: 21,492,680 (GRCm39) |
Y233C |
probably damaging |
Het |
| Dchs2 |
G |
T |
3: 83,036,476 (GRCm39) |
V408F |
probably benign |
Het |
| Dnmt3c |
T |
A |
2: 153,561,950 (GRCm39) |
L551Q |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,578,365 (GRCm39) |
F746S |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,732,149 (GRCm39) |
R157C |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,344 (GRCm39) |
S58T |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,135,504 (GRCm39) |
V1809A |
probably damaging |
Het |
| Kif22 |
T |
A |
7: 126,630,225 (GRCm39) |
N437I |
probably benign |
Het |
| Klri1 |
A |
G |
6: 129,693,964 (GRCm39) |
V41A |
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,646 (GRCm39) |
D125E |
possibly damaging |
Het |
| Nek10 |
A |
T |
14: 14,828,448 (GRCm38) |
N90I |
possibly damaging |
Het |
| Nostrin |
G |
A |
2: 69,011,201 (GRCm39) |
A331T |
probably benign |
Het |
| Or4k2 |
T |
C |
14: 50,423,775 (GRCm39) |
K300E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,394 (GRCm39) |
Y260C |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,073 (GRCm39) |
T265A |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,333,960 (GRCm39) |
V223A |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Skic3 |
T |
A |
13: 76,298,638 (GRCm39) |
S1115T |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,765,300 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,314,496 (GRCm39) |
I772T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,797,954 (GRCm39) |
N1927S |
probably benign |
Het |
| Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
| Trbv15 |
A |
T |
6: 41,118,414 (GRCm39) |
T57S |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,886,826 (GRCm39) |
I146F |
probably damaging |
Het |
| Vmn2r39 |
T |
A |
7: 9,018,092 (GRCm39) |
Y748F |
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 |
|
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 |
|
R9586:Zfp493
|
UTSW |
13 |
67,932,017 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0021:Zfp493
|
UTSW |
13 |
67,934,497 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTGTGAAGGTGTCAGATCTC -3'
(R):5'- TATGGATTCTTTGATGCTTACCCAG -3'
Sequencing Primer
(F):5'- AGGTGTCAGATCTCCTGGAAC -3'
(R):5'- TGCCACACACTTCACATTTGTAAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation