Incidental Mutation 'R6066:Zfp493'
| ID |
484055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp493
|
| Ensembl Gene |
ENSMUSG00000090659 |
| Gene Name |
zinc finger protein 493 |
| Synonyms |
2900054J07Rik |
| MMRRC Submission |
044230-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67927812-67937201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67935069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 341
(A341T)
|
| 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: A341T
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132282
Gene: ENSMUSG00000090659
AA Change: A341T
| 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 |
probably benign
Transcript: ENSMUST00000220570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223540
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,412,308 (GRCm39) |
F429S |
probably damaging |
Het |
| Ahi1 |
A |
T |
10: 20,835,825 (GRCm39) |
M53L |
possibly damaging |
Het |
| Ahr |
A |
T |
12: 35,554,920 (GRCm39) |
F400I |
probably damaging |
Het |
| Ak7 |
G |
T |
12: 105,699,750 (GRCm39) |
G223V |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,726,698 (GRCm39) |
I128V |
possibly damaging |
Het |
| Ampd3 |
A |
T |
7: 110,392,974 (GRCm39) |
E247D |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Arhgef10l |
A |
G |
4: 140,304,391 (GRCm39) |
F243L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,269,537 (GRCm39) |
V661E |
probably damaging |
Het |
| Cox8c |
A |
G |
12: 102,866,534 (GRCm39) |
T53A |
probably benign |
Het |
| Creld2 |
C |
A |
15: 88,707,969 (GRCm39) |
T236K |
possibly damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,476 (GRCm39) |
C250S |
probably benign |
Het |
| Dhx37 |
A |
C |
5: 125,501,730 (GRCm39) |
F510V |
probably benign |
Het |
| Fblim1 |
T |
C |
4: 141,305,220 (GRCm39) |
D350G |
probably damaging |
Het |
| Lipm |
A |
G |
19: 34,090,374 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,768,049 (GRCm39) |
F348S |
probably benign |
Het |
| Misp |
A |
G |
10: 79,662,146 (GRCm39) |
R188G |
possibly damaging |
Het |
| Nbeal1 |
T |
G |
1: 60,287,564 (GRCm39) |
I936S |
probably benign |
Het |
| Ngly1 |
G |
A |
14: 16,294,634 (GRCm38) |
M521I |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,510 (GRCm39) |
Y376F |
probably benign |
Het |
| Oas3 |
T |
C |
5: 120,910,989 (GRCm39) |
K197R |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,511,276 (GRCm39) |
Y353H |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,822,828 (GRCm39) |
N625D |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,391,525 (GRCm39) |
S1530R |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,799,740 (GRCm39) |
P457L |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,831,258 (GRCm39) |
S565P |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,726,301 (GRCm39) |
M163V |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,171 (GRCm39) |
T2890A |
unknown |
Het |
| Tatdn3 |
A |
T |
1: 190,778,465 (GRCm39) |
V242E |
probably benign |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,864 (GRCm39) |
M38L |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,258,573 (GRCm39) |
F524L |
possibly damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,695 (GRCm39) |
S239P |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,919,778 (GRCm39) |
D679G |
probably null |
Het |
| Zbtb42 |
C |
A |
12: 112,646,041 (GRCm39) |
T72K |
probably damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,801 (GRCm39) |
C80R |
possibly 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 |
|
|
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 |
|
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'- AAGAATGTGGTAAGGCCTTTAGT -3'
(R):5'- TGCCACATTCCTTGCATTTGTAG -3'
Sequencing Primer
(F):5'- GTAAGGCCTTTAGTGCTCGCAC -3'
(R):5'- CCAATATGGATTCGCAGATGC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation