Incidental Mutation 'R2890:Zfp51'
| ID |
260079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp51
|
| Ensembl Gene |
ENSMUSG00000023892 |
| Gene Name |
zinc finger protein 51 |
| Synonyms |
zfec12, Zfp-51 |
| MMRRC Submission |
040478-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R2890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21670636-21685849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 21684118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 244
(C244W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039577]
|
| AlphaFold |
Q3U4L8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039577
AA Change: C244W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045684
Gene: ENSMUSG00000023892
AA Change: C244W
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
43 |
103 |
1.71e-22 |
SMART |
|
ZnF_C2H2
|
214 |
236 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
494 |
517 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
579 |
601 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
607 |
629 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
635 |
657 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
663 |
685 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
691 |
713 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
719 |
741 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
747 |
769 |
6.82e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| A1cf |
A |
G |
19: 31,895,417 (GRCm39) |
I167V |
probably benign |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Amdhd1 |
T |
C |
10: 93,363,126 (GRCm39) |
K321E |
probably benign |
Het |
| Baz1a |
T |
C |
12: 54,945,302 (GRCm39) |
H1351R |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,496,026 (GRCm39) |
D127G |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,048 (GRCm39) |
Y356C |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,673,800 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,583,325 (GRCm39) |
L474P |
probably damaging |
Het |
| Fzd7 |
C |
T |
1: 59,523,593 (GRCm39) |
A492V |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,754,479 (GRCm39) |
L876P |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,582,515 (GRCm39) |
T144A |
probably damaging |
Het |
| Gusb |
T |
C |
5: 130,029,343 (GRCm39) |
H146R |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,276,885 (GRCm39) |
V2835A |
probably damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Lcn10 |
T |
C |
2: 25,573,642 (GRCm39) |
L73P |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 69,011,249 (GRCm39) |
T347A |
probably benign |
Het |
| Or4k41 |
A |
T |
2: 111,279,634 (GRCm39) |
I50F |
probably benign |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,379 (GRCm39) |
C791Y |
probably benign |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Rbsn |
C |
T |
6: 92,184,104 (GRCm39) |
V70M |
possibly damaging |
Het |
| Slc25a1 |
A |
T |
16: 17,743,963 (GRCm39) |
L251Q |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Srek1ip1 |
A |
T |
13: 104,970,758 (GRCm39) |
I70L |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,937,849 (GRCm39) |
S278P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,726,498 (GRCm39) |
|
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Vmn2r66 |
C |
T |
7: 84,661,027 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
G |
T |
12: 85,076,587 (GRCm39) |
R646L |
probably damaging |
Het |
| Zfp619 |
C |
A |
7: 39,184,393 (GRCm39) |
T141K |
probably benign |
Het |
|
| Other mutations in Zfp51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Zfp51
|
APN |
17 |
21,683,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL00971:Zfp51
|
APN |
17 |
21,683,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02002:Zfp51
|
APN |
17 |
21,684,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02268:Zfp51
|
APN |
17 |
21,683,681 (GRCm39) |
nonsense |
probably null |
|
|
IGL03249:Zfp51
|
APN |
17 |
21,683,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1569:Zfp51
|
UTSW |
17 |
21,676,642 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1853:Zfp51
|
UTSW |
17 |
21,684,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Zfp51
|
UTSW |
17 |
21,676,582 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2285:Zfp51
|
UTSW |
17 |
21,684,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2407:Zfp51
|
UTSW |
17 |
21,684,093 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3918:Zfp51
|
UTSW |
17 |
21,683,702 (GRCm39) |
missense |
probably benign |
|
|
R4529:Zfp51
|
UTSW |
17 |
21,684,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4587:Zfp51
|
UTSW |
17 |
21,685,178 (GRCm39) |
nonsense |
probably null |
|
|
R4866:Zfp51
|
UTSW |
17 |
21,682,012 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4872:Zfp51
|
UTSW |
17 |
21,684,933 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4961:Zfp51
|
UTSW |
17 |
21,676,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5392:Zfp51
|
UTSW |
17 |
21,685,584 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5611:Zfp51
|
UTSW |
17 |
21,684,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Zfp51
|
UTSW |
17 |
21,683,831 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7129:Zfp51
|
UTSW |
17 |
21,681,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Zfp51
|
UTSW |
17 |
21,683,960 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7303:Zfp51
|
UTSW |
17 |
21,684,058 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7514:Zfp51
|
UTSW |
17 |
21,683,762 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7665:Zfp51
|
UTSW |
17 |
21,683,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8073:Zfp51
|
UTSW |
17 |
21,684,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Zfp51
|
UTSW |
17 |
21,684,129 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8560:Zfp51
|
UTSW |
17 |
21,685,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8877:Zfp51
|
UTSW |
17 |
21,682,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Zfp51
|
UTSW |
17 |
21,684,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Zfp51
|
UTSW |
17 |
21,684,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9307:Zfp51
|
UTSW |
17 |
21,684,733 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9489:Zfp51
|
UTSW |
17 |
21,684,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Zfp51
|
UTSW |
17 |
21,684,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Zfp51
|
UTSW |
17 |
21,683,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9735:Zfp51
|
UTSW |
17 |
21,685,413 (GRCm39) |
nonsense |
probably null |
|
|
R9795:Zfp51
|
UTSW |
17 |
21,682,051 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0062:Zfp51
|
UTSW |
17 |
21,685,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTCAGGATCAAAGACTCTACAAC -3'
(R):5'- GTCCTGAAATTGGGATAATGGGC -3'
Sequencing Primer
(F):5'- CAAAACAGCACAGACAGGAAGTATAC -3'
(R):5'- GGCAAAGGATTTGTCACATTCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation