Incidental Mutation 'R4587:Zfp51'
ID |
344193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp51
|
Ensembl Gene |
ENSMUSG00000023892 |
Gene Name |
zinc finger protein 51 |
Synonyms |
zfec12, Zfp-51 |
MMRRC Submission |
042006-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.390)
|
Stock # |
R4587 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
21670636-21685849 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 21685178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 598
(Q598*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039577]
|
AlphaFold |
Q3U4L8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039577
AA Change: Q598*
|
SMART Domains |
Protein: ENSMUSP00000045684 Gene: ENSMUSG00000023892 AA Change: Q598*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
T |
C |
17: 35,320,063 (GRCm39) |
|
probably null |
Het |
Adsl |
T |
C |
15: 80,851,968 (GRCm39) |
|
probably null |
Het |
Arhgap32 |
T |
C |
9: 32,172,241 (GRCm39) |
S1674P |
probably benign |
Het |
Cd244a |
T |
G |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
Ceacam23 |
C |
T |
7: 17,620,149 (GRCm39) |
L18F |
possibly damaging |
Het |
Ces1a |
A |
G |
8: 93,751,932 (GRCm39) |
Y401H |
probably damaging |
Het |
Chd9 |
G |
T |
8: 91,763,134 (GRCm39) |
V2320F |
possibly damaging |
Het |
Chrd |
A |
G |
16: 20,557,325 (GRCm39) |
E670G |
possibly damaging |
Het |
Ckap2 |
A |
G |
8: 22,666,992 (GRCm39) |
S290P |
probably benign |
Het |
Cluap1 |
T |
A |
16: 3,751,680 (GRCm39) |
|
probably null |
Het |
Col15a1 |
C |
T |
4: 47,257,184 (GRCm39) |
T325M |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,230,636 (GRCm39) |
I971T |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,304,745 (GRCm39) |
F1652S |
probably damaging |
Het |
Dok6 |
T |
C |
18: 89,319,320 (GRCm39) |
Q312R |
probably benign |
Het |
Glis1 |
C |
A |
4: 107,484,740 (GRCm39) |
H600N |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,309,704 (GRCm39) |
D648G |
probably benign |
Het |
Kif22 |
A |
T |
7: 126,632,052 (GRCm39) |
|
probably null |
Het |
Lmtk3 |
A |
G |
7: 45,443,504 (GRCm39) |
D729G |
possibly damaging |
Het |
Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
Nf1 |
T |
A |
11: 79,426,863 (GRCm39) |
|
probably null |
Het |
Nom1 |
T |
C |
5: 29,656,163 (GRCm39) |
S843P |
possibly damaging |
Het |
Or1e33 |
A |
G |
11: 73,738,045 (GRCm39) |
I302T |
probably benign |
Het |
Pex14 |
A |
G |
4: 149,048,021 (GRCm39) |
|
probably benign |
Het |
Ptcd1 |
T |
C |
5: 145,091,531 (GRCm39) |
T523A |
possibly damaging |
Het |
Rasip1 |
T |
C |
7: 45,282,159 (GRCm39) |
V554A |
possibly damaging |
Het |
Ric3 |
A |
T |
7: 108,653,570 (GRCm39) |
|
probably null |
Het |
Skint4 |
G |
A |
4: 111,944,221 (GRCm39) |
C11Y |
probably damaging |
Het |
Smr2 |
G |
A |
5: 88,256,631 (GRCm39) |
R103H |
probably benign |
Het |
Sobp |
T |
C |
10: 43,034,020 (GRCm39) |
Y102C |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,926,473 (GRCm39) |
F356I |
probably damaging |
Het |
Tbcd |
T |
C |
11: 121,496,097 (GRCm39) |
V1044A |
possibly damaging |
Het |
Tecpr1 |
C |
G |
5: 144,149,408 (GRCm39) |
V340L |
probably damaging |
Het |
Tle3 |
A |
G |
9: 61,281,295 (GRCm39) |
I22V |
probably damaging |
Het |
Trim30a |
G |
A |
7: 104,084,851 (GRCm39) |
R120* |
probably null |
Het |
Trim72 |
A |
G |
7: 127,607,164 (GRCm39) |
D231G |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,695,648 (GRCm39) |
N255Y |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
Wnt7a |
A |
T |
6: 91,343,324 (GRCm39) |
|
probably null |
Het |
Zfp617 |
A |
T |
8: 72,683,003 (GRCm39) |
N51I |
probably damaging |
Het |
Zfp977 |
A |
T |
7: 42,229,614 (GRCm39) |
C304S |
probably damaging |
Het |
Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
probably 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 |
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 |
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 |
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'- AAATCCTTTACCCAGCGTGCATAT -3'
(R):5'- AAAGGACTTGTCACATTCCATACA -3'
Sequencing Primer
(F):5'- ACCCAGCGTGCATATCTTAG -3'
(R):5'- CACAGTCTCTGCATTTGTAAGG -3'
|
Posted On |
2015-09-24 |