Incidental Mutation 'R1248:Zfp52'
| ID |
152209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp52
|
| Ensembl Gene |
ENSMUSG00000051341 |
| Gene Name |
zinc finger protein 52 |
| Synonyms |
Zfp-52, KRAB11, Zfp76, zfec29 |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21755801-21782863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 21780311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 53
(E53A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079242]
|
| AlphaFold |
Q8BJ45 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079242
AA Change: E53A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078233
Gene: ENSMUSG00000051341
AA Change: E53A
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
|
| Other mutations in Zfp52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01752:Zfp52
|
APN |
17 |
21,780,412 (GRCm39) |
missense |
probably benign |
0.12 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCAATAGCTGCCCATGAAAG -3'
(R):5'- TCTGCGTTTGATGAGTCAACAGAGG -3'
Sequencing Primer
(F):5'- GACCCTAAGATTCGATGAAAGTCTTC -3'
(R):5'- AGAGGCATCCTTCTCATTACAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation