Incidental Mutation 'R4278:Zfp52'
| ID |
322781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp52
|
| Ensembl Gene |
ENSMUSG00000051341 |
| Gene Name |
zinc finger protein 52 |
| Synonyms |
Zfp-52, KRAB11, Zfp76, zfec29 |
| MMRRC Submission |
068968-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R4278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21755801-21782863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21782132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 660
(K660R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079242]
|
| AlphaFold |
Q8BJ45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079242
AA Change: K660R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078233
Gene: ENSMUSG00000051341
AA Change: K660R
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anln |
A |
G |
9: 22,245,296 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bltp3b |
T |
G |
10: 89,642,571 (GRCm39) |
|
probably null |
Het |
| Capza3 |
T |
A |
6: 139,987,786 (GRCm39) |
Y128* |
probably null |
Het |
| Ccdc187 |
T |
A |
2: 26,172,239 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,209,667 (GRCm39) |
R119G |
probably damaging |
Het |
| Espn |
T |
C |
4: 152,218,874 (GRCm39) |
D308G |
probably damaging |
Het |
| Gm9857 |
T |
C |
3: 108,847,419 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
G |
A |
9: 121,613,285 (GRCm39) |
A470V |
probably benign |
Het |
| Igfals |
A |
T |
17: 25,100,191 (GRCm39) |
E427D |
probably benign |
Het |
| Il22ra1 |
C |
T |
4: 135,478,024 (GRCm39) |
A365V |
possibly damaging |
Het |
| Kctd6 |
G |
C |
14: 8,222,806 (GRCm38) |
R216P |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,098,512 (GRCm39) |
M1864L |
probably null |
Het |
| Mbd5 |
T |
G |
2: 49,162,305 (GRCm39) |
I37S |
probably damaging |
Het |
| Nsf |
C |
A |
11: 103,821,632 (GRCm39) |
A5S |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or9q1 |
A |
G |
19: 13,805,793 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
C |
T |
11: 71,965,342 (GRCm39) |
V164I |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,532,637 (GRCm39) |
K117R |
probably benign |
Het |
| Ppp1r13b |
G |
T |
12: 111,796,818 (GRCm39) |
N908K |
probably damaging |
Het |
| Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
| Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
| Rhbdd3 |
C |
T |
11: 5,055,329 (GRCm39) |
T226I |
probably benign |
Het |
| Slc27a3 |
C |
T |
3: 90,296,495 (GRCm39) |
|
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,073,360 (GRCm39) |
E136K |
probably null |
Het |
| Sptlc2 |
A |
C |
12: 87,382,925 (GRCm39) |
I393R |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r80 |
G |
T |
7: 11,927,454 (GRCm39) |
C188F |
probably benign |
Het |
| Vwa2 |
C |
A |
19: 56,891,915 (GRCm39) |
Q283K |
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 |
|
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 |
|
|
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'- ACTGGAGAGAAACCTTACAAATGC -3'
(R):5'- TTGATTTGCAAGCAGAGAATACCAG -3'
Sequencing Primer
(F):5'- TGCAAAGACTGTGGCATATCC -3'
(R):5'- TGCAAGCAGAGAATACCAGATATATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation