Incidental Mutation 'R1080:Zfp809'
| ID |
85828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp809
|
| Ensembl Gene |
ENSMUSG00000057982 |
| Gene Name |
zinc finger protein 809 |
| Synonyms |
|
| MMRRC Submission |
039166-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R1080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
22137010-22154650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 22146405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 31
(D31E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072465]
[ENSMUST00000213371]
[ENSMUST00000215618]
[ENSMUST00000215902]
|
| AlphaFold |
G3X9G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072465
AA Change: D31E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072286
Gene: ENSMUSG00000057982
AA Change: D31E
| 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
AA Change: D31E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215583
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215618
AA Change: D31E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215902
AA Change: D31E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
| Akp3 |
T |
A |
1: 87,054,723 (GRCm39) |
F353I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
| Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
| Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
| Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Klhdc8b |
T |
C |
9: 108,326,837 (GRCm39) |
N175S |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
| Mnat1 |
T |
C |
12: 73,319,292 (GRCm39) |
F305S |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,572,741 (GRCm39) |
V5A |
probably benign |
Het |
| Nkd1 |
T |
A |
8: 89,318,647 (GRCm39) |
M428K |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
| Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
| Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
| Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,924,186 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTAGTAacacacacacacacacaca -3'
(R):5'- TCGGTCAGGACGAATCTACATTCTCA -3'
Sequencing Primer
(F):5'- GCCCCTTAAGCTGAAGAGAA -3'
(R):5'- ccattcctattcaaaccaccac -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation