Incidental Mutation 'R6625:Zfp493'
| ID |
524760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp493
|
| Ensembl Gene |
ENSMUSG00000090659 |
| Gene Name |
zinc finger protein 493 |
| Synonyms |
2900054J07Rik |
| MMRRC Submission |
044747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6625 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67927812-67937201 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 67934514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 156
(Q156*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164936]
[ENSMUST00000181319]
[ENSMUST00000220570]
|
| AlphaFold |
E9Q1L8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000164936
AA Change: Q156*
|
| SMART Domains |
Protein: ENSMUSP00000132282
Gene: ENSMUSG00000090659
AA Change: Q156*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
91% (30/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,567,391 (GRCm39) |
R984W |
probably null |
Het |
| Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
| Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
| Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
| Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
| G2e3 |
T |
G |
12: 51,400,572 (GRCm39) |
|
probably null |
Het |
| Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
| Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
| Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
| Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
| Or5a3 |
T |
G |
19: 12,400,205 (GRCm39) |
H177Q |
probably damaging |
Het |
| Pcolce2 |
T |
A |
9: 95,560,492 (GRCm39) |
C180* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,090,369 (GRCm39) |
Y470N |
probably damaging |
Het |
| Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
| Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,459,100 (GRCm39) |
P65L |
probably damaging |
Het |
| Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,372,594 (GRCm39) |
L587Q |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
| Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,656,717 (GRCm39) |
H474R |
probably damaging |
Het |
| Thap12 |
G |
A |
7: 98,365,277 (GRCm39) |
V482I |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
| Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
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 |
|
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'- GCCGATATGCTTTTAGTGATTCCTC -3'
(R):5'- TTCGGTGAACAGTAAGTCCTG -3'
Sequencing Primer
(F):5'- CCCTATCAGTGTAAACAATGTGGG -3'
(R):5'- CCTGAATAGTTAGTAAAAGCTCTGCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation