Incidental Mutation 'IGL00587:Zfp53'
| ID |
3916 |
| 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: 0.076)
|
| Stock # |
IGL00587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
21709260-21730735 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21728600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 211
(V211A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076664]
|
| AlphaFold |
Q9Z117 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076664
AA Change: V211A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075960
Gene: ENSMUSG00000057409
AA Change: V211A
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
A |
C |
15: 97,143,327 (GRCm39) |
M365R |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,208,775 (GRCm39) |
D352G |
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,374,346 (GRCm39) |
T265A |
probably damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,804,225 (GRCm39) |
S43P |
probably damaging |
Het |
| Chchd6 |
A |
T |
6: 89,546,399 (GRCm39) |
|
probably null |
Het |
| Cr2 |
C |
T |
1: 194,836,559 (GRCm39) |
R868Q |
possibly damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,344 (GRCm39) |
S126P |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,711 (GRCm39) |
I794N |
probably damaging |
Het |
| Fga |
A |
T |
3: 82,937,596 (GRCm39) |
S158C |
possibly damaging |
Het |
| Gm14240 |
T |
C |
2: 155,894,870 (GRCm39) |
|
probably null |
Het |
| Itga1 |
C |
A |
13: 115,148,785 (GRCm39) |
V279L |
probably damaging |
Het |
| Kdm1b |
T |
C |
13: 47,222,016 (GRCm39) |
V485A |
probably benign |
Het |
| Mfap3l |
T |
C |
8: 61,124,943 (GRCm39) |
V395A |
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,780,974 (GRCm39) |
V57E |
probably benign |
Het |
| P2ry12 |
A |
T |
3: 59,125,303 (GRCm39) |
I124K |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,977,550 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,222 (GRCm39) |
|
probably benign |
Het |
| Rab28 |
T |
C |
5: 41,860,799 (GRCm39) |
R52G |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,745 (GRCm39) |
|
probably null |
Het |
| Sel1l2 |
G |
A |
2: 140,085,864 (GRCm39) |
L539F |
possibly damaging |
Het |
| Ticam2 |
T |
C |
18: 46,693,880 (GRCm39) |
E69G |
probably benign |
Het |
| Zcchc2 |
T |
A |
1: 105,957,993 (GRCm39) |
S821R |
probably benign |
Het |
| Zcchc4 |
T |
A |
5: 52,973,511 (GRCm39) |
S379T |
probably benign |
Het |
| Zmym2 |
T |
G |
14: 57,140,817 (GRCm39) |
S219A |
possibly damaging |
Het |
|
| Other mutations in Zfp53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation