Incidental Mutation 'R2407:Zfp51'
| ID |
248077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp51
|
| Ensembl Gene |
ENSMUSG00000023892 |
| Gene Name |
zinc finger protein 51 |
| Synonyms |
zfec12, Zfp-51 |
| MMRRC Submission |
040373-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R2407 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21670636-21685849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21684093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 236
(H236L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039577]
|
| AlphaFold |
Q3U4L8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039577
AA Change: H236L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045684
Gene: ENSMUSG00000023892
AA Change: H236L
| 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: 98.4%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
T |
6: 65,930,212 (GRCm39) |
N149I |
probably benign |
Het |
| Agxt |
G |
T |
1: 93,063,502 (GRCm39) |
A135S |
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,159,880 (GRCm39) |
I40F |
probably damaging |
Het |
| Ang |
T |
A |
14: 51,339,103 (GRCm39) |
C81* |
probably null |
Het |
| Apc |
G |
T |
18: 34,447,315 (GRCm39) |
V1370F |
possibly damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,553,614 (GRCm39) |
T127A |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,489 (GRCm39) |
L168P |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,428,032 (GRCm39) |
M510L |
probably benign |
Het |
| Epb42 |
C |
A |
2: 120,855,233 (GRCm39) |
V451F |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,039,441 (GRCm39) |
L2017Q |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,225,424 (GRCm39) |
|
probably null |
Het |
| Kif13a |
G |
A |
13: 46,930,573 (GRCm39) |
P164S |
probably damaging |
Het |
| Kirrel1 |
T |
A |
3: 86,992,150 (GRCm39) |
I593F |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,257,183 (GRCm39) |
I265N |
possibly damaging |
Het |
| Mctp2 |
A |
T |
7: 71,850,155 (GRCm39) |
D507E |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,641,215 (GRCm39) |
|
probably null |
Het |
| Myo3b |
T |
C |
2: 70,085,597 (GRCm39) |
Y750H |
probably damaging |
Het |
| Nrp1 |
T |
C |
8: 129,158,426 (GRCm39) |
S238P |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,890,964 (GRCm39) |
E41G |
probably benign |
Het |
| Pclo |
G |
T |
5: 14,728,946 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,373,247 (GRCm39) |
D2296G |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,166,510 (GRCm39) |
C473R |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,508,502 (GRCm39) |
M808K |
probably damaging |
Het |
| Sec24b |
A |
C |
3: 129,795,965 (GRCm39) |
S651A |
probably benign |
Het |
| Slc17a3 |
G |
A |
13: 24,036,418 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
A |
G |
2: 62,143,687 (GRCm39) |
H1074R |
probably benign |
Het |
| Spata31d1b |
A |
G |
13: 59,864,660 (GRCm39) |
K603E |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,721,919 (GRCm39) |
M1087K |
possibly damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,117,523 (GRCm39) |
K409* |
probably null |
Het |
| Tacc2 |
G |
A |
7: 130,223,770 (GRCm39) |
V152I |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,527,536 (GRCm39) |
M65V |
probably benign |
Het |
| Tmem131l |
G |
T |
3: 83,829,355 (GRCm39) |
Q1100K |
probably benign |
Het |
| Togaram1 |
T |
C |
12: 65,014,444 (GRCm39) |
M565T |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,449 (GRCm39) |
Y340H |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,893,794 (GRCm39) |
M643L |
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 |
|
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'- GTCAGGATCAAAGACTCTACAACG -3'
(R):5'- GTCCTGAAATTGGGATAATGGGC -3'
Sequencing Primer
(F):5'- GGATCAAAGACTCTACAACGCAAAAC -3'
(R):5'- GGCAAAGGATTTGTCACATTCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation