Incidental Mutation 'R1393:Zfp810'
| ID |
162699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp810
|
| Ensembl Gene |
ENSMUSG00000066829 |
| Gene Name |
zinc finger protein 810 |
| Synonyms |
|
| MMRRC Submission |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
22188044-22218944 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22191810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 90
(D90G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086278]
[ENSMUST00000215202]
|
| AlphaFold |
Q99K45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086278
AA Change: D90G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083459
Gene: ENSMUSG00000066829
AA Change: D90G
| 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
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
| Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R4545:Zfp810
|
UTSW |
9 |
22,190,041 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- CAGAGTTATTTCCCCAGATGCCTCG -3'
(R):5'- AGCTGTCAGTGTGCAGTGTAATTCC -3'
Sequencing Primer
(F):5'- GACTTGACTGCTCAGTCTGATATTC -3'
(R):5'- CCAATTCATTGAAGACTAGGATGTGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation