Incidental Mutation 'R4545:Zfp810'
ID |
333722 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp810
|
Ensembl Gene |
ENSMUSG00000066829 |
Gene Name |
zinc finger protein 810 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R4545 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
22188044-22218944 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 22190041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 289
(T289I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086278]
[ENSMUST00000215202]
|
AlphaFold |
Q99K45 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086278
AA Change: T289I
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000083459 Gene: ENSMUSG00000066829 AA Change: T289I
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
1.09e-33 |
SMART |
ZnF_C2H2
|
126 |
148 |
2.44e2 |
SMART |
ZnF_C2H2
|
182 |
204 |
3.07e-1 |
SMART |
ZnF_C2H2
|
210 |
232 |
8.47e-4 |
SMART |
ZnF_C2H2
|
238 |
260 |
6.78e-3 |
SMART |
ZnF_C2H2
|
266 |
288 |
6.13e-1 |
SMART |
ZnF_C2H2
|
294 |
316 |
5.06e-2 |
SMART |
ZnF_C2H2
|
322 |
344 |
4.79e-3 |
SMART |
ZnF_C2H2
|
350 |
372 |
2.99e-4 |
SMART |
ZnF_C2H2
|
378 |
400 |
1.33e-1 |
SMART |
ZnF_C2H2
|
406 |
428 |
2.75e-3 |
SMART |
ZnF_C2H2
|
434 |
456 |
1.58e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214499
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215202
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
Coq8b |
G |
T |
7: 26,932,930 (GRCm39) |
C13F |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
Decr1 |
C |
A |
4: 15,930,979 (GRCm39) |
V118F |
probably damaging |
Het |
Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
Or1e30 |
T |
C |
11: 73,677,992 (GRCm39) |
V76A |
probably damaging |
Het |
Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
Zscan12 |
A |
G |
13: 21,550,875 (GRCm39) |
K165E |
possibly damaging |
Het |
|
Other mutations in Zfp810 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00484:Zfp810
|
APN |
9 |
22,189,605 (GRCm39) |
nonsense |
probably null |
|
IGL03079:Zfp810
|
APN |
9 |
22,195,423 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03402:Zfp810
|
APN |
9 |
22,190,441 (GRCm39) |
splice site |
probably null |
|
H8562:Zfp810
|
UTSW |
9 |
22,190,387 (GRCm39) |
missense |
probably benign |
0.42 |
R1116:Zfp810
|
UTSW |
9 |
22,190,381 (GRCm39) |
missense |
probably benign |
0.11 |
R1160:Zfp810
|
UTSW |
9 |
22,189,828 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1171:Zfp810
|
UTSW |
9 |
22,190,122 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1393:Zfp810
|
UTSW |
9 |
22,191,810 (GRCm39) |
missense |
probably benign |
|
R1608:Zfp810
|
UTSW |
9 |
22,190,216 (GRCm39) |
missense |
probably benign |
0.00 |
R1644:Zfp810
|
UTSW |
9 |
22,190,324 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1766:Zfp810
|
UTSW |
9 |
22,189,828 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2568:Zfp810
|
UTSW |
9 |
22,190,534 (GRCm39) |
missense |
probably benign |
0.01 |
R3684:Zfp810
|
UTSW |
9 |
22,189,531 (GRCm39) |
missense |
probably benign |
0.01 |
R4002:Zfp810
|
UTSW |
9 |
22,190,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R4134:Zfp810
|
UTSW |
9 |
22,190,369 (GRCm39) |
missense |
probably damaging |
0.97 |
R4135:Zfp810
|
UTSW |
9 |
22,190,369 (GRCm39) |
missense |
probably damaging |
0.97 |
R4334:Zfp810
|
UTSW |
9 |
22,190,080 (GRCm39) |
missense |
probably benign |
0.00 |
R5399:Zfp810
|
UTSW |
9 |
22,190,125 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5622:Zfp810
|
UTSW |
9 |
22,190,392 (GRCm39) |
missense |
probably benign |
0.00 |
R5643:Zfp810
|
UTSW |
9 |
22,194,467 (GRCm39) |
missense |
probably benign |
0.26 |
R7375:Zfp810
|
UTSW |
9 |
22,201,833 (GRCm39) |
critical splice donor site |
probably null |
|
R7441:Zfp810
|
UTSW |
9 |
22,190,568 (GRCm39) |
nonsense |
probably null |
|
R7809:Zfp810
|
UTSW |
9 |
22,190,278 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8422:Zfp810
|
UTSW |
9 |
22,194,518 (GRCm39) |
nonsense |
probably null |
|
R8526:Zfp810
|
UTSW |
9 |
22,189,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R8719:Zfp810
|
UTSW |
9 |
22,190,571 (GRCm39) |
missense |
probably benign |
0.00 |
R9177:Zfp810
|
UTSW |
9 |
22,189,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R9479:Zfp810
|
UTSW |
9 |
22,194,497 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9521:Zfp810
|
UTSW |
9 |
22,190,227 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9683:Zfp810
|
UTSW |
9 |
22,189,799 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGGACTTATTAAGTATTACCCTGCT -3'
(R):5'- TGCAAGTCTCACCTCACTGT -3'
Sequencing Primer
(F):5'- ACTCGGGACATTCATATGGC -3'
(R):5'- TCTGAGAATTCACACCGGTG -3'
|
Posted On |
2015-08-18 |