Incidental Mutation 'R4545:Zfp819'
| ID |
333717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp819
|
| Ensembl Gene |
ENSMUSG00000055102 |
| Gene Name |
zinc finger protein 819 |
| Synonyms |
4933405K07Rik, 4930427I11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43256593-43267709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 43267209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 488
(R488L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032661]
[ENSMUST00000116324]
[ENSMUST00000120935]
|
| AlphaFold |
Q80V81 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032661
AA Change: R564L
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: R564L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
27 |
85 |
1.69e-21 |
SMART |
|
ZnF_C2H2
|
300 |
327 |
5.4e1 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
3.74e-5 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
552 |
574 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
580 |
602 |
3.11e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116324
AA Change: R564L
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: R564L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
27 |
85 |
1.69e-21 |
SMART |
|
ZnF_C2H2
|
300 |
327 |
5.4e1 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
3.74e-5 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
552 |
574 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
580 |
602 |
3.11e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120935
AA Change: R488L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: R488L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
224 |
251 |
5.4e1 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
3.74e-5 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
420 |
442 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
448 |
470 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
476 |
498 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
504 |
526 |
3.11e-2 |
SMART |
|
| 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 |
| Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
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 Zfp819 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Zfp819
|
APN |
7 |
43,261,403 (GRCm39) |
splice site |
probably benign |
|
|
IGL01732:Zfp819
|
APN |
7 |
43,265,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02139:Zfp819
|
APN |
7 |
43,261,534 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02276:Zfp819
|
APN |
7 |
43,261,428 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0306:Zfp819
|
UTSW |
7 |
43,266,621 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0620:Zfp819
|
UTSW |
7 |
43,265,868 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1301:Zfp819
|
UTSW |
7 |
43,266,524 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1314:Zfp819
|
UTSW |
7 |
43,266,480 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1980:Zfp819
|
UTSW |
7 |
43,265,885 (GRCm39) |
missense |
probably benign |
|
|
R4993:Zfp819
|
UTSW |
7 |
43,266,720 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5053:Zfp819
|
UTSW |
7 |
43,266,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6080:Zfp819
|
UTSW |
7 |
43,266,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7289:Zfp819
|
UTSW |
7 |
43,266,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Zfp819
|
UTSW |
7 |
43,262,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7608:Zfp819
|
UTSW |
7 |
43,266,357 (GRCm39) |
missense |
probably benign |
|
|
R7813:Zfp819
|
UTSW |
7 |
43,266,191 (GRCm39) |
missense |
probably benign |
|
|
R7863:Zfp819
|
UTSW |
7 |
43,267,316 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8026:Zfp819
|
UTSW |
7 |
43,267,319 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8080:Zfp819
|
UTSW |
7 |
43,267,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Zfp819
|
UTSW |
7 |
43,266,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Zfp819
|
UTSW |
7 |
43,266,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9199:Zfp819
|
UTSW |
7 |
43,267,203 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9792:Zfp819
|
UTSW |
7 |
43,261,519 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Zfp819
|
UTSW |
7 |
43,267,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCGGGAAATTGTTTGTC -3'
(R):5'- ACGTATGAGCAAACAACTGC -3'
Sequencing Primer
(F):5'- GAAGCCTTATGAATGCCCTGACTG -3'
(R):5'- GTATGAGCAAACAACTGCACACAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation