Incidental Mutation 'IGL01651:Zfp53'
ID |
102827 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp53
|
Ensembl Gene |
ENSMUSG00000057409 |
Gene Name |
zinc finger protein 53 |
Synonyms |
Zfp118, Zfp-53, D030067O06Rik, KRAZ1, zfas8 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
IGL01651
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
21709260-21730735 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21728348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 127
(N127S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076664]
|
AlphaFold |
Q9Z117 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076664
AA Change: N127S
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000075960 Gene: ENSMUSG00000057409 AA Change: N127S
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 |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
T |
C |
2: 181,136,531 (GRCm39) |
|
probably benign |
Het |
Alms1 |
T |
A |
6: 85,633,458 (GRCm39) |
V2980E |
probably benign |
Het |
Anxa7 |
A |
G |
14: 20,506,569 (GRCm39) |
L457P |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,784,856 (GRCm39) |
D310G |
probably damaging |
Het |
Btbd9 |
T |
C |
17: 30,439,391 (GRCm39) |
S599G |
unknown |
Het |
Col25a1 |
G |
A |
3: 130,360,134 (GRCm39) |
M487I |
probably benign |
Het |
Ddx42 |
T |
A |
11: 106,138,855 (GRCm39) |
F885I |
probably benign |
Het |
Foxi3 |
T |
C |
6: 70,933,975 (GRCm39) |
V154A |
probably damaging |
Het |
Golga3 |
A |
C |
5: 110,340,771 (GRCm39) |
|
probably null |
Het |
Igdcc4 |
T |
C |
9: 65,031,394 (GRCm39) |
V491A |
possibly damaging |
Het |
Kcnh7 |
T |
A |
2: 62,564,628 (GRCm39) |
D877V |
possibly damaging |
Het |
Kcnu1 |
A |
G |
8: 26,351,123 (GRCm39) |
D162G |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,608,727 (GRCm39) |
|
probably null |
Het |
Ndufv2 |
T |
C |
17: 66,396,466 (GRCm39) |
N47S |
possibly damaging |
Het |
Npepl1 |
T |
A |
2: 173,956,181 (GRCm39) |
|
probably benign |
Het |
Or6k4 |
A |
T |
1: 173,964,907 (GRCm39) |
D199V |
probably damaging |
Het |
Otud7b |
C |
T |
3: 96,060,807 (GRCm39) |
Q441* |
probably null |
Het |
Pard3b |
A |
C |
1: 62,518,963 (GRCm39) |
|
probably benign |
Het |
Pfkfb3 |
T |
C |
2: 11,494,495 (GRCm39) |
E143G |
probably damaging |
Het |
Pphln1 |
C |
A |
15: 93,386,864 (GRCm39) |
Q321K |
probably damaging |
Het |
Rnf121 |
A |
G |
7: 101,691,862 (GRCm39) |
S2P |
probably damaging |
Het |
Slc25a42 |
G |
A |
8: 70,639,250 (GRCm39) |
R276C |
possibly damaging |
Het |
Smgc |
T |
C |
15: 91,743,986 (GRCm39) |
|
probably benign |
Het |
Tdrd5 |
C |
T |
1: 156,129,397 (GRCm39) |
M104I |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,027,632 (GRCm39) |
N457K |
probably benign |
Het |
Zfp474 |
T |
C |
18: 52,771,655 (GRCm39) |
S103P |
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 |
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 |
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 |
|
|
Posted On |
2014-01-21 |