Incidental Mutation 'IGL01752:Zfp52'
| ID |
153392 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp52
|
| Ensembl Gene |
ENSMUSG00000051341 |
| Gene Name |
zinc finger protein 52 |
| Synonyms |
Zfp-52, KRAB11, Zfp76, zfec29 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
IGL01752
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
21755801-21782863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 21780412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 87
(C87G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079242]
|
| AlphaFold |
Q8BJ45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079242
AA Change: C87G
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000078233
Gene: ENSMUSG00000051341
AA Change: C87G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
3.79e-24 |
SMART |
|
ZnF_C2H2
|
186 |
208 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
214 |
236 |
5.07e0 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
2.29e1 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
1.77e1 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
1.34e2 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
6.99e-5 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
522 |
544 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
550 |
572 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
578 |
600 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
690 |
712 |
1.69e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,318 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
A |
T |
2: 179,532,677 (GRCm39) |
N713I |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,423,286 (GRCm39) |
S639P |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,902,512 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,022,542 (GRCm39) |
T237M |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,209,049 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,700,210 (GRCm39) |
K347E |
possibly damaging |
Het |
| Gucy2c |
C |
A |
6: 136,747,106 (GRCm39) |
A118S |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lox |
A |
G |
18: 52,653,926 (GRCm39) |
V390A |
possibly damaging |
Het |
| Lyn |
A |
T |
4: 3,743,286 (GRCm39) |
M69L |
probably benign |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,415 (GRCm39) |
F107L |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcnx3 |
T |
A |
19: 5,715,365 (GRCm39) |
K1962* |
probably null |
Het |
| Pde3a |
T |
C |
6: 141,433,339 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 15,175,212 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
| Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
G |
2: 130,530,065 (GRCm39) |
T238P |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,352,553 (GRCm39) |
K279N |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,552,568 (GRCm39) |
I275N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,137 (GRCm39) |
E25252G |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,779 (GRCm39) |
T84A |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,232 (GRCm39) |
K127M |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,093 (GRCm39) |
M586K |
probably benign |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,855,510 (GRCm39) |
I2525N |
probably damaging |
Het |
| Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
|
| Other mutations in Zfp52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4449001:Zfp52
|
UTSW |
17 |
21,777,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Zfp52
|
UTSW |
17 |
21,781,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0674:Zfp52
|
UTSW |
17 |
21,782,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1224:Zfp52
|
UTSW |
17 |
21,775,324 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1248:Zfp52
|
UTSW |
17 |
21,780,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Zfp52
|
UTSW |
17 |
21,781,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1663:Zfp52
|
UTSW |
17 |
21,782,084 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1917:Zfp52
|
UTSW |
17 |
21,780,426 (GRCm39) |
missense |
probably benign |
|
|
R4272:Zfp52
|
UTSW |
17 |
21,780,459 (GRCm39) |
nonsense |
probably null |
|
|
R4273:Zfp52
|
UTSW |
17 |
21,780,459 (GRCm39) |
nonsense |
probably null |
|
|
R4278:Zfp52
|
UTSW |
17 |
21,782,132 (GRCm39) |
missense |
probably benign |
|
|
R4683:Zfp52
|
UTSW |
17 |
21,781,769 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4865:Zfp52
|
UTSW |
17 |
21,781,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Zfp52
|
UTSW |
17 |
21,780,665 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4966:Zfp52
|
UTSW |
17 |
21,780,665 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5430:Zfp52
|
UTSW |
17 |
21,775,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5685:Zfp52
|
UTSW |
17 |
21,782,013 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6133:Zfp52
|
UTSW |
17 |
21,780,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Zfp52
|
UTSW |
17 |
21,775,309 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7083:Zfp52
|
UTSW |
17 |
21,780,392 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7439:Zfp52
|
UTSW |
17 |
21,781,132 (GRCm39) |
nonsense |
probably null |
|
|
R7456:Zfp52
|
UTSW |
17 |
21,781,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7740:Zfp52
|
UTSW |
17 |
21,781,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8196:Zfp52
|
UTSW |
17 |
21,782,156 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R8930:Zfp52
|
UTSW |
17 |
21,780,692 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8932:Zfp52
|
UTSW |
17 |
21,780,692 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9033:Zfp52
|
UTSW |
17 |
21,780,655 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9510:Zfp52
|
UTSW |
17 |
21,782,218 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9645:Zfp52
|
UTSW |
17 |
21,781,937 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2014-02-04 |
Incidental Mutation