Incidental Mutation 'R2908:Zfp53'
| ID |
261119 |
| 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 |
040495-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21709260-21730735 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 21728736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 256
(C256*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076664]
|
| AlphaFold |
Q9Z117 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076664
AA Change: C256*
|
| SMART Domains |
Protein: ENSMUSP00000075960
Gene: ENSMUSG00000057409
AA Change: C256*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,149,237 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
| Atp1a4 |
A |
G |
1: 172,062,044 (GRCm39) |
Y694H |
probably benign |
Het |
| Bhlha9 |
T |
C |
11: 76,563,433 (GRCm39) |
V20A |
probably benign |
Het |
| Ccl28 |
C |
A |
13: 120,112,398 (GRCm39) |
|
probably null |
Het |
| Cdk14 |
T |
C |
5: 5,299,051 (GRCm39) |
I55V |
probably benign |
Het |
| Cit |
C |
A |
5: 116,119,735 (GRCm39) |
D1246E |
probably benign |
Het |
| Clp1 |
A |
G |
2: 84,554,488 (GRCm39) |
V227A |
possibly damaging |
Het |
| Dhx29 |
T |
C |
13: 113,064,385 (GRCm39) |
V20A |
possibly damaging |
Het |
| Lima1 |
C |
T |
15: 99,699,991 (GRCm39) |
|
probably null |
Het |
| Lyst |
A |
G |
13: 13,844,458 (GRCm39) |
I1883V |
probably benign |
Het |
| Myh1 |
C |
T |
11: 67,111,522 (GRCm39) |
Q1654* |
probably null |
Het |
| Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
| Pbx3 |
G |
T |
2: 34,062,933 (GRCm39) |
T422K |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,107,493 (GRCm39) |
L1008P |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
| Slc25a40 |
C |
T |
5: 8,477,505 (GRCm39) |
T30I |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,181,005 (GRCm39) |
I35F |
possibly damaging |
Het |
| Tmem18 |
A |
T |
12: 30,637,252 (GRCm39) |
R78* |
probably null |
Het |
| Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
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 |
|
R2874:Zfp53
|
UTSW |
17 |
21,728,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCAGAGACTCTATGCTGCAAAC -3'
(R):5'- ACAGTGGGCAAAGGATTTGTC -3'
Sequencing Primer
(F):5'- GAGACTCTATGCTGCAAACAAACTG -3'
(R):5'- GGCAAAGGATTTGTCACACTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation