Incidental Mutation 'R2874:Zfp53'
| ID |
260477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp53
|
| Ensembl Gene |
ENSMUSG00000057409 |
| Gene Name |
zinc finger protein 53 |
| Synonyms |
Zfp118, Zfp-53, D030067O06Rik, KRAZ1, zfas8 |
| MMRRC Submission |
040462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21709260-21730735 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21728340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 124
(E124D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076664]
|
| AlphaFold |
Q9Z117 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076664
AA Change: E124D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075960
Gene: ENSMUSG00000057409
AA Change: E124D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
54 |
114 |
6.06e-23 |
SMART |
|
ZnF_C2H2
|
226 |
248 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
254 |
276 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
282 |
304 |
2.65e-5 |
SMART |
|
ZnF_C2H2
|
310 |
332 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
338 |
360 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
366 |
388 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
394 |
416 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
422 |
444 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
450 |
472 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
478 |
500 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
506 |
528 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
534 |
556 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
562 |
584 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
590 |
612 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
618 |
640 |
4.87e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
PHENOTYPE: Homozygous disruption of this locus results in pigmentation abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930029G22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd42 |
T |
C |
7: 92,254,566 (GRCm39) |
K348E |
possibly damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,025,093 (GRCm39) |
|
probably null |
Het |
| Arhgef10 |
A |
G |
8: 15,025,666 (GRCm39) |
I459V |
probably benign |
Het |
| Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,239,532 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,293,520 (GRCm39) |
I412T |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,415,294 (GRCm39) |
D690V |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,606,831 (GRCm39) |
F531I |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,570,031 (GRCm39) |
V460A |
possibly damaging |
Het |
| Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,210 (GRCm39) |
K419E |
probably benign |
Het |
| Ftdc1 |
A |
T |
16: 58,434,342 (GRCm39) |
I125K |
probably benign |
Het |
| Ggct |
G |
T |
6: 54,969,759 (GRCm39) |
A21D |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Grid2ip |
C |
A |
5: 143,343,684 (GRCm39) |
Q127K |
probably benign |
Het |
| Ighv2-2 |
G |
A |
12: 113,552,118 (GRCm39) |
T40I |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,327,996 (GRCm39) |
K79R |
possibly damaging |
Het |
| Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 144,930,745 (GRCm39) |
T367A |
probably benign |
Het |
| Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,741,705 (GRCm39) |
L3188P |
probably damaging |
Het |
| Matcap1 |
A |
G |
8: 106,008,664 (GRCm39) |
M451T |
possibly damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Noc4l |
A |
G |
5: 110,796,969 (GRCm39) |
V465A |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,350,247 (GRCm39) |
C2298R |
possibly damaging |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
| Plxna3 |
T |
A |
X: 73,383,002 (GRCm39) |
|
probably benign |
Het |
| Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Het |
| Prps1 |
C |
T |
X: 139,372,743 (GRCm39) |
|
probably benign |
Het |
| Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
| Qng1 |
T |
A |
13: 58,530,384 (GRCm39) |
I209F |
probably damaging |
Het |
| Ralgds |
A |
G |
2: 28,438,781 (GRCm39) |
|
probably null |
Het |
| Rasl12 |
A |
G |
9: 65,315,605 (GRCm39) |
N83S |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,147,215 (GRCm39) |
Y601C |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,100,484 (GRCm39) |
I205T |
probably benign |
Het |
| Sgk2 |
A |
G |
2: 162,836,449 (GRCm39) |
|
probably benign |
Het |
| Spsb4 |
G |
T |
9: 96,878,071 (GRCm39) |
T84K |
probably damaging |
Het |
| St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
| Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,444,398 (GRCm39) |
F187S |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,088,107 (GRCm39) |
I85T |
possibly damaging |
Het |
| Trpa1 |
A |
G |
1: 14,957,844 (GRCm39) |
C705R |
probably damaging |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
|
| Other mutations in Zfp53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Zfp53
|
APN |
17 |
21,728,600 (GRCm39) |
missense |
probably benign |
|
|
IGL00862:Zfp53
|
APN |
17 |
21,729,360 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01651:Zfp53
|
APN |
17 |
21,728,348 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02183:Zfp53
|
APN |
17 |
21,720,512 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0063:Zfp53
|
UTSW |
17 |
21,728,367 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0449:Zfp53
|
UTSW |
17 |
21,729,095 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0514:Zfp53
|
UTSW |
17 |
21,729,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Zfp53
|
UTSW |
17 |
21,728,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Zfp53
|
UTSW |
17 |
21,729,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Zfp53
|
UTSW |
17 |
21,729,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Zfp53
|
UTSW |
17 |
21,729,884 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2113:Zfp53
|
UTSW |
17 |
21,728,713 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2869:Zfp53
|
UTSW |
17 |
21,728,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2869:Zfp53
|
UTSW |
17 |
21,728,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Zfp53
|
UTSW |
17 |
21,728,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Zfp53
|
UTSW |
17 |
21,728,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Zfp53
|
UTSW |
17 |
21,728,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Zfp53
|
UTSW |
17 |
21,728,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2873:Zfp53
|
UTSW |
17 |
21,728,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2908:Zfp53
|
UTSW |
17 |
21,728,736 (GRCm39) |
nonsense |
probably null |
|
|
R3873:Zfp53
|
UTSW |
17 |
21,728,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4499:Zfp53
|
UTSW |
17 |
21,729,497 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4806:Zfp53
|
UTSW |
17 |
21,725,263 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5007:Zfp53
|
UTSW |
17 |
21,729,772 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6261:Zfp53
|
UTSW |
17 |
21,728,975 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6329:Zfp53
|
UTSW |
17 |
21,728,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6452:Zfp53
|
UTSW |
17 |
21,729,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Zfp53
|
UTSW |
17 |
21,728,707 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7033:Zfp53
|
UTSW |
17 |
21,720,508 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7250:Zfp53
|
UTSW |
17 |
21,729,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8068:Zfp53
|
UTSW |
17 |
21,729,274 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8491:Zfp53
|
UTSW |
17 |
21,729,621 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9627:Zfp53
|
UTSW |
17 |
21,728,745 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGTCAGCTACTGGGAGATC -3'
(R):5'- TGTTTGCAGCATAGAGTCTCTG -3'
Sequencing Primer
(F):5'- GTCAGCTACTGGGAGATCTATTC -3'
(R):5'- GCAGCATAGAGTCTCTGATTTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation