Incidental Mutation 'R5376:Zfp493'
| ID |
425572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp493
|
| Ensembl Gene |
ENSMUSG00000090659 |
| Gene Name |
zinc finger protein 493 |
| Synonyms |
2900054J07Rik |
| MMRRC Submission |
042952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67927812-67937201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67934437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 130
(I130T)
|
| 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: I130T
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132282
Gene: ENSMUSG00000090659
AA Change: I130T
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
C |
11: 119,902,860 (GRCm39) |
S512W |
probably damaging |
Het |
| Abcc2 |
A |
T |
19: 43,818,339 (GRCm39) |
N1275I |
possibly damaging |
Het |
| Adgb |
T |
C |
10: 10,222,307 (GRCm39) |
T1455A |
probably benign |
Het |
| Cnnm3 |
T |
A |
1: 36,559,759 (GRCm39) |
L566H |
probably damaging |
Het |
| Coa8 |
A |
G |
12: 111,696,492 (GRCm39) |
D142G |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,185,363 (GRCm39) |
P1229L |
probably benign |
Het |
| Dsc1 |
T |
G |
18: 20,221,503 (GRCm39) |
K657N |
probably benign |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,775,038 (GRCm39) |
T207N |
probably benign |
Het |
| Eif4g1 |
T |
A |
16: 20,502,577 (GRCm39) |
Y955N |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,260,770 (GRCm39) |
T1016A |
probably damaging |
Het |
| Fcrl6 |
G |
A |
1: 172,426,847 (GRCm39) |
T33M |
probably damaging |
Het |
| Golga3 |
T |
C |
5: 110,368,811 (GRCm39) |
|
probably null |
Het |
| Gpbp1 |
T |
C |
13: 111,563,176 (GRCm39) |
N425D |
probably damaging |
Het |
| Igkv12-46 |
A |
C |
6: 69,741,520 (GRCm39) |
W112G |
probably benign |
Het |
| Kdelr3 |
T |
A |
15: 79,410,061 (GRCm39) |
V182E |
possibly damaging |
Het |
| Kif15 |
T |
A |
9: 122,823,036 (GRCm39) |
N700K |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,479,868 (GRCm39) |
L1169* |
probably null |
Het |
| Myof |
A |
G |
19: 37,904,848 (GRCm39) |
Y905H |
probably damaging |
Het |
| Or10h1b |
A |
T |
17: 33,395,621 (GRCm39) |
I82F |
probably damaging |
Het |
| Or52e5 |
A |
T |
7: 104,719,564 (GRCm39) |
T297S |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,762 (GRCm39) |
M257L |
possibly damaging |
Het |
| Otud7b |
T |
A |
3: 96,060,841 (GRCm39) |
|
probably null |
Het |
| Pde4d |
T |
C |
13: 109,909,178 (GRCm39) |
C197R |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,162,654 (GRCm39) |
T823A |
probably benign |
Het |
| Plekha5 |
C |
T |
6: 140,496,870 (GRCm39) |
T140M |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,062,094 (GRCm39) |
R594W |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,045,944 (GRCm39) |
D286G |
probably benign |
Het |
| Ppp2r1b |
C |
T |
9: 50,778,228 (GRCm39) |
A315V |
possibly damaging |
Het |
| Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
| Psg26 |
A |
T |
7: 18,214,030 (GRCm39) |
S211T |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGT |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc5a9 |
A |
T |
4: 111,750,414 (GRCm39) |
V148E |
possibly damaging |
Het |
| Spmip9 |
C |
A |
6: 70,890,466 (GRCm39) |
A109S |
possibly damaging |
Het |
| Txndc15 |
T |
G |
13: 55,866,032 (GRCm39) |
N165K |
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 |
|
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 |
|
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'- CGATATGCTTTTAGTGATTCCTCAACC -3'
(R):5'- GCCACATTCTTCACATCTGTAGG -3'
Sequencing Primer
(F):5'- AGTGATTCCTCAACCTCTGCTCAAC -3'
(R):5'- ACATCTGTAGGGTTTCTCTCCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation