Incidental Mutation 'R5019:Zfp809'
| ID |
389098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp809
|
| Ensembl Gene |
ENSMUSG00000057982 |
| Gene Name |
zinc finger protein 809 |
| Synonyms |
|
| MMRRC Submission |
042610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R5019 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
22137010-22154650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22148998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 84
(D84G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072465]
[ENSMUST00000213371]
[ENSMUST00000215618]
[ENSMUST00000215902]
|
| AlphaFold |
G3X9G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072465
AA Change: D84G
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072286
Gene: ENSMUSG00000057982
AA Change: D84G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
7.56e-33 |
SMART |
|
ZnF_C2H2
|
155 |
178 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
184 |
206 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
213 |
235 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
241 |
263 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
297 |
319 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
6.32e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213350
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215583
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215618
AA Change: D84G
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215902
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
92% (35/38) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased expression of VL30-pro endogenous retroviruses (ERV) elements. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
A |
11: 110,056,760 (GRCm39) |
W20L |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,711,818 (GRCm39) |
Y81* |
probably null |
Het |
| Add3 |
A |
G |
19: 53,231,002 (GRCm39) |
E559G |
probably damaging |
Het |
| Ahcyl2 |
A |
T |
6: 29,859,738 (GRCm39) |
K6M |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 31,031,415 (GRCm39) |
N345I |
possibly damaging |
Het |
| Carm1 |
T |
C |
9: 21,490,807 (GRCm39) |
|
probably null |
Het |
| Ip6k2 |
T |
A |
9: 108,674,945 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,261,772 (GRCm39) |
L649P |
probably damaging |
Het |
| Klra5 |
T |
C |
6: 129,876,352 (GRCm39) |
T152A |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,276,468 (GRCm39) |
S24P |
possibly damaging |
Het |
| Mfap2 |
A |
T |
4: 140,742,569 (GRCm39) |
T142S |
probably damaging |
Het |
| Miga1 |
A |
C |
3: 152,028,098 (GRCm39) |
S144A |
possibly damaging |
Het |
| Nalf1 |
A |
G |
8: 9,820,240 (GRCm39) |
V260A |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,334,285 (GRCm39) |
F34I |
probably damaging |
Het |
| Or4d2b |
A |
G |
11: 87,779,801 (GRCm39) |
V307A |
probably benign |
Het |
| Pate12 |
C |
A |
9: 36,343,198 (GRCm39) |
Q7K |
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,994 (GRCm39) |
D234G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,764,381 (GRCm39) |
N4285D |
unknown |
Het |
| Pex1 |
T |
C |
5: 3,672,331 (GRCm39) |
S725P |
probably damaging |
Het |
| Pigg |
A |
G |
5: 108,480,015 (GRCm39) |
Y430C |
probably damaging |
Het |
| Plcb2 |
A |
T |
2: 118,542,617 (GRCm39) |
L818Q |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,755,965 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,785,845 (GRCm39) |
V97A |
probably damaging |
Het |
| Tfap2b |
T |
C |
1: 19,296,666 (GRCm39) |
V185A |
probably benign |
Het |
| Trim27 |
T |
C |
13: 21,374,134 (GRCm39) |
F294L |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
T |
A |
5: 111,249,930 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,992,126 (GRCm39) |
T88A |
probably benign |
Het |
| Xkr6 |
T |
G |
14: 64,056,515 (GRCm39) |
I142S |
unknown |
Het |
| Zfp618 |
T |
C |
4: 63,021,789 (GRCm39) |
Y252H |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
|
| Other mutations in Zfp809 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02967:Zfp809
|
APN |
9 |
22,146,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Zfp809
|
APN |
9 |
22,149,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03177:Zfp809
|
APN |
9 |
22,146,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03250:Zfp809
|
APN |
9 |
22,149,931 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03265:Zfp809
|
APN |
9 |
22,154,339 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1080:Zfp809
|
UTSW |
9 |
22,146,405 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1544:Zfp809
|
UTSW |
9 |
22,146,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Zfp809
|
UTSW |
9 |
22,150,027 (GRCm39) |
nonsense |
probably null |
|
|
R2137:Zfp809
|
UTSW |
9 |
22,146,434 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2314:Zfp809
|
UTSW |
9 |
22,149,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2356:Zfp809
|
UTSW |
9 |
22,154,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5735:Zfp809
|
UTSW |
9 |
22,150,227 (GRCm39) |
nonsense |
probably null |
|
|
R6483:Zfp809
|
UTSW |
9 |
22,147,540 (GRCm39) |
missense |
probably benign |
|
|
R7106:Zfp809
|
UTSW |
9 |
22,147,520 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8969:Zfp809
|
UTSW |
9 |
22,137,130 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9364:Zfp809
|
UTSW |
9 |
22,150,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9600:Zfp809
|
UTSW |
9 |
22,150,384 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9666:Zfp809
|
UTSW |
9 |
22,149,863 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9700:Zfp809
|
UTSW |
9 |
22,154,470 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTTACCATAGGCCAGTAAG -3'
(R):5'- TTCGGCCAGGGTTAAACATGAG -3'
Sequencing Primer
(F):5'- AGTCCTTCACTGAGGGCTGTAAC -3'
(R):5'- CCAGGGTTAAACATGAGAAAGTTTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation