Incidental Mutation 'R2289:Zfp870'
ID |
244234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp870
|
Ensembl Gene |
ENSMUSG00000095325 |
Gene Name |
zinc finger protein 870 |
Synonyms |
|
MMRRC Submission |
040288-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R2289 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
33098193-33110616 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33102334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 333
(S333T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178401]
[ENSMUST00000228075]
|
AlphaFold |
Q6NZJ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000178401
AA Change: S332T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000136197 Gene: ENSMUSG00000095325 AA Change: S332T
Domain | Start | End | E-Value | Type |
KRAB
|
3 |
60 |
1.01e-19 |
SMART |
ZnF_C2H2
|
193 |
215 |
4.5e1 |
SMART |
ZnF_C2H2
|
221 |
241 |
6.4e0 |
SMART |
ZnF_C2H2
|
277 |
299 |
2.24e-3 |
SMART |
ZnF_C2H2
|
305 |
327 |
9.58e-3 |
SMART |
ZnF_C2H2
|
333 |
355 |
2.86e-1 |
SMART |
ZnF_C2H2
|
361 |
383 |
6.42e-4 |
SMART |
ZnF_C2H2
|
389 |
411 |
1.18e-2 |
SMART |
ZnF_C2H2
|
417 |
439 |
3.89e-3 |
SMART |
ZnF_C2H2
|
445 |
467 |
5.5e-3 |
SMART |
ZnF_C2H2
|
473 |
495 |
4.47e-3 |
SMART |
ZnF_C2H2
|
501 |
523 |
5.9e-3 |
SMART |
ZnF_C2H2
|
529 |
551 |
3.11e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228075
AA Change: S333T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228410
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp12a |
G |
A |
14: 56,610,719 (GRCm39) |
V288I |
possibly damaging |
Het |
Cntn6 |
C |
T |
6: 104,545,989 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
T |
A |
9: 57,520,941 (GRCm39) |
E220V |
possibly damaging |
Het |
Cracdl |
T |
C |
1: 37,651,342 (GRCm39) |
K1175R |
possibly damaging |
Het |
Dcaf10 |
T |
A |
4: 45,359,816 (GRCm39) |
W244R |
probably damaging |
Het |
Dixdc1 |
A |
G |
9: 50,595,172 (GRCm39) |
|
probably null |
Het |
Dlg4 |
T |
A |
11: 69,917,752 (GRCm39) |
Y12N |
probably damaging |
Het |
Fsd1l |
T |
A |
4: 53,696,931 (GRCm39) |
Y442N |
possibly damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hcrt |
C |
A |
11: 100,652,745 (GRCm39) |
A90S |
probably damaging |
Het |
Itga6 |
T |
A |
2: 71,648,873 (GRCm39) |
V119D |
probably damaging |
Het |
Klrh1 |
T |
C |
6: 129,745,140 (GRCm39) |
N152S |
probably null |
Het |
Lmtk2 |
T |
A |
5: 144,112,924 (GRCm39) |
S1215T |
possibly damaging |
Het |
Loxl2 |
G |
A |
14: 69,930,524 (GRCm39) |
E763K |
probably benign |
Het |
Mcrip1 |
T |
C |
11: 120,435,530 (GRCm39) |
E35G |
probably damaging |
Het |
Nle1 |
T |
A |
11: 82,793,879 (GRCm39) |
I386F |
probably benign |
Het |
Nqo1 |
T |
C |
8: 108,119,630 (GRCm39) |
I8V |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Pax8 |
T |
C |
2: 24,330,752 (GRCm39) |
D227G |
probably benign |
Het |
Phf14 |
T |
C |
6: 12,047,845 (GRCm39) |
C885R |
probably damaging |
Het |
Rhobtb3 |
A |
C |
13: 76,059,046 (GRCm39) |
C251G |
probably damaging |
Het |
Samd13 |
C |
T |
3: 146,368,446 (GRCm39) |
A49T |
probably damaging |
Het |
Snrpa1 |
T |
A |
7: 65,713,586 (GRCm39) |
V101E |
probably benign |
Het |
Styx |
A |
G |
14: 45,592,404 (GRCm39) |
E20G |
possibly damaging |
Het |
Thoc1 |
T |
C |
18: 9,984,488 (GRCm39) |
Y325H |
probably damaging |
Het |
Tmem163 |
T |
A |
1: 127,423,477 (GRCm39) |
T262S |
possibly damaging |
Het |
Tsr1 |
T |
G |
11: 74,790,111 (GRCm39) |
L102R |
probably damaging |
Het |
Vash1 |
G |
C |
12: 86,726,952 (GRCm39) |
R64P |
probably damaging |
Het |
Vps13b |
A |
C |
15: 35,572,251 (GRCm39) |
D956A |
probably damaging |
Het |
Vrk1 |
G |
A |
12: 106,024,120 (GRCm39) |
G199S |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zranb1 |
T |
C |
7: 132,551,768 (GRCm39) |
Y140H |
probably damaging |
Het |
Zscan4b |
A |
G |
7: 10,635,789 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zfp870 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01304:Zfp870
|
APN |
17 |
33,101,980 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1591:Zfp870
|
UTSW |
17 |
33,102,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R1892:Zfp870
|
UTSW |
17 |
33,102,863 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1941:Zfp870
|
UTSW |
17 |
33,101,778 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1997:Zfp870
|
UTSW |
17 |
33,103,027 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4240:Zfp870
|
UTSW |
17 |
33,104,710 (GRCm39) |
missense |
probably benign |
0.00 |
R4860:Zfp870
|
UTSW |
17 |
33,102,314 (GRCm39) |
nonsense |
probably null |
|
R4860:Zfp870
|
UTSW |
17 |
33,102,314 (GRCm39) |
nonsense |
probably null |
|
R5306:Zfp870
|
UTSW |
17 |
33,102,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R6425:Zfp870
|
UTSW |
17 |
33,102,045 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6736:Zfp870
|
UTSW |
17 |
33,102,570 (GRCm39) |
missense |
probably benign |
|
R7054:Zfp870
|
UTSW |
17 |
33,102,456 (GRCm39) |
missense |
probably damaging |
0.97 |
R7291:Zfp870
|
UTSW |
17 |
33,102,828 (GRCm39) |
missense |
probably damaging |
0.97 |
R7466:Zfp870
|
UTSW |
17 |
33,102,736 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7681:Zfp870
|
UTSW |
17 |
33,101,664 (GRCm39) |
missense |
probably benign |
|
R8230:Zfp870
|
UTSW |
17 |
33,102,663 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8346:Zfp870
|
UTSW |
17 |
33,102,843 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8673:Zfp870
|
UTSW |
17 |
33,101,904 (GRCm39) |
missense |
probably damaging |
0.97 |
R8695:Zfp870
|
UTSW |
17 |
33,102,679 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8736:Zfp870
|
UTSW |
17 |
33,104,966 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9057:Zfp870
|
UTSW |
17 |
33,102,793 (GRCm39) |
missense |
probably benign |
0.27 |
|
Predicted Primers |
PCR Primer
(F):5'- TTACACACATAGGGCTTCTGACC -3'
(R):5'- CTCGTTCTGCTTGCCTTAGAAG -3'
Sequencing Primer
(F):5'- ACCAGTGTGAATTCGCTCATG -3'
(R):5'- CGTTCTGCTTGCCTTAGAAGAAGAAC -3'
|
Posted On |
2014-10-30 |