Incidental Mutation 'R2285:Zfp51'
| ID |
243291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp51
|
| Ensembl Gene |
ENSMUSG00000023892 |
| Gene Name |
zinc finger protein 51 |
| Synonyms |
zfec12, Zfp-51 |
| MMRRC Submission |
040284-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R2285 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21670636-21685849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21684137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 251
(F251I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039577]
|
| AlphaFold |
Q3U4L8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039577
AA Change: F251I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045684
Gene: ENSMUSG00000023892
AA Change: F251I
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,087,037 (GRCm39) |
Y532H |
probably damaging |
Het |
| Bbs9 |
T |
G |
9: 22,590,230 (GRCm39) |
L656W |
probably damaging |
Het |
| Cibar2 |
T |
C |
8: 120,895,276 (GRCm39) |
N209D |
probably benign |
Het |
| Clu |
T |
C |
14: 66,218,408 (GRCm39) |
S423P |
probably benign |
Het |
| Cnpy4 |
A |
G |
5: 138,191,087 (GRCm39) |
|
probably null |
Het |
| Col28a1 |
A |
T |
6: 8,097,078 (GRCm39) |
V440E |
probably damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,344,301 (GRCm39) |
N121S |
probably benign |
Het |
| Cpa5 |
G |
T |
6: 30,615,063 (GRCm39) |
V67L |
probably benign |
Het |
| Emilin1 |
G |
A |
5: 31,075,544 (GRCm39) |
R595H |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 16,287,469 (GRCm39) |
Q685K |
probably damaging |
Het |
| Gfra4 |
C |
T |
2: 130,883,651 (GRCm39) |
R34H |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,049,308 (GRCm39) |
V410M |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,245,446 (GRCm39) |
F235L |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Mipep |
T |
C |
14: 61,024,843 (GRCm39) |
S95P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nxpe3 |
C |
T |
16: 55,686,588 (GRCm39) |
G140D |
probably damaging |
Het |
| Or6c66b |
A |
G |
10: 129,376,537 (GRCm39) |
I44V |
probably benign |
Het |
| Ppcs |
T |
A |
4: 119,276,174 (GRCm39) |
K137I |
possibly damaging |
Het |
| Tmc1 |
A |
G |
19: 20,767,163 (GRCm39) |
M731T |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,677 (GRCm39) |
V115D |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,611,246 (GRCm39) |
T1190I |
possibly damaging |
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 |
|
R2407:Zfp51
|
UTSW |
17 |
21,684,093 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2890:Zfp51
|
UTSW |
17 |
21,684,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACTATTTCAGCTCTGCATACAGTC -3'
(R):5'- TCTGGACAACTACAATGTTCCTC -3'
Sequencing Primer
(F):5'- AGCTCTGCATACAGTCTCATG -3'
(R):5'- GGACAACTACAATGTTCCTCTGAAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation