Incidental Mutation 'IGL03250:Zfp809'
| ID |
414532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp809
|
| Ensembl Gene |
ENSMUSG00000057982 |
| Gene Name |
zinc finger protein 809 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
IGL03250
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
22137010-22154650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22149931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 143
(T143A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072465]
[ENSMUST00000213371]
[ENSMUST00000215618]
[ENSMUST00000215902]
|
| AlphaFold |
G3X9G7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072465
AA Change: T143A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072286
Gene: ENSMUSG00000057982
AA Change: T143A
| 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 |
possibly damaging
Transcript: ENSMUST00000215618
AA Change: T143A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215902
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bnipl |
C |
T |
3: 95,151,450 (GRCm39) |
|
probably benign |
Het |
| Calb2 |
G |
T |
8: 110,869,739 (GRCm39) |
L265I |
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,858 (GRCm39) |
R442C |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,940,426 (GRCm39) |
V131A |
probably benign |
Het |
| Ctnnal1 |
G |
T |
4: 56,812,356 (GRCm39) |
N723K |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,711,380 (GRCm39) |
|
probably null |
Het |
| Hdac4 |
A |
C |
1: 91,862,322 (GRCm39) |
|
probably null |
Het |
| Mms19 |
A |
T |
19: 41,942,903 (GRCm39) |
|
probably null |
Het |
| Myh7 |
A |
T |
14: 55,229,704 (GRCm39) |
M113K |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,705,556 (GRCm39) |
T127A |
possibly damaging |
Het |
| Plekhm3 |
A |
G |
1: 64,977,206 (GRCm39) |
V88A |
possibly damaging |
Het |
| S100a7l2 |
T |
C |
3: 90,997,715 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,485,846 (GRCm39) |
S80P |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
| Upk1a |
A |
T |
7: 30,306,403 (GRCm39) |
V121E |
possibly damaging |
Het |
| Vmn1r70 |
C |
T |
7: 10,368,208 (GRCm39) |
T232I |
probably damaging |
Het |
| Vmn2r4 |
G |
A |
3: 64,314,063 (GRCm39) |
T306I |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,699,124 (GRCm39) |
M2524K |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,450,396 (GRCm39) |
V1044A |
possibly damaging |
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 |
|
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 |
|
R5019:Zfp809
|
UTSW |
9 |
22,148,998 (GRCm39) |
missense |
probably benign |
0.44 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation