Incidental Mutation 'IGL02276:Zfp819'
| ID |
287339 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp819
|
| Ensembl Gene |
ENSMUSG00000055102 |
| Gene Name |
zinc finger protein 819 |
| Synonyms |
4933405K07Rik, 4930427I11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43256593-43267709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43261428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 32
(V32I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032661]
[ENSMUST00000116324]
[ENSMUST00000120935]
[ENSMUST00000127765]
|
| AlphaFold |
Q80V81 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032661
AA Change: V32I
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: V32I
| 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: V32I
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: V32I
| 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 benign
Transcript: ENSMUST00000120935
|
| SMART Domains |
Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127765
AA Change: V32I
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116658
Gene: ENSMUSG00000055102
AA Change: V32I
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
27 |
85 |
1.69e-21 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,386,697 (GRCm39) |
V1140A |
probably damaging |
Het |
| Ccdc88b |
A |
G |
19: 6,833,475 (GRCm39) |
|
probably null |
Het |
| Cep135 |
A |
G |
5: 76,782,093 (GRCm39) |
N904S |
probably benign |
Het |
| Dnajc12 |
G |
A |
10: 63,244,037 (GRCm39) |
R109Q |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,187,295 (GRCm39) |
|
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,124,566 (GRCm39) |
N380K |
probably benign |
Het |
| Dusp11 |
A |
T |
6: 85,935,599 (GRCm39) |
D91E |
probably damaging |
Het |
| Fkbp15 |
C |
A |
4: 62,254,703 (GRCm39) |
E266* |
probably null |
Het |
| Gm10337 |
A |
G |
15: 102,412,169 (GRCm39) |
V324A |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,517,295 (GRCm39) |
D46V |
possibly damaging |
Het |
| Hdac9 |
G |
A |
12: 34,481,925 (GRCm39) |
T181I |
probably damaging |
Het |
| Iigp1c |
A |
T |
18: 60,379,151 (GRCm39) |
I229F |
probably damaging |
Het |
| Large1 |
T |
A |
8: 73,544,721 (GRCm39) |
M686L |
probably benign |
Het |
| Lca5 |
C |
A |
9: 83,280,638 (GRCm39) |
L387F |
possibly damaging |
Het |
| Mtmr9 |
A |
T |
14: 63,767,725 (GRCm39) |
W295R |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
| Or5ac15 |
A |
C |
16: 58,940,378 (GRCm39) |
D18E |
probably benign |
Het |
| Phf20l1 |
T |
A |
15: 66,487,259 (GRCm39) |
|
probably null |
Het |
| Plce1 |
A |
G |
19: 38,513,201 (GRCm39) |
S167G |
probably benign |
Het |
| Plekha6 |
C |
A |
1: 133,221,599 (GRCm39) |
D934E |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,695,306 (GRCm39) |
S2G |
possibly damaging |
Het |
| Ptpn6 |
A |
C |
6: 124,705,828 (GRCm39) |
D105E |
probably null |
Het |
| Rtp1 |
T |
C |
16: 23,250,063 (GRCm39) |
S143P |
probably benign |
Het |
| Rttn |
A |
C |
18: 89,066,578 (GRCm39) |
Q1208P |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,438,686 (GRCm39) |
V183D |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,210,712 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,280,734 (GRCm39) |
E271D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,226 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
G |
A |
3: 64,313,877 (GRCm39) |
T279I |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,980 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
R4545:Zfp819
|
UTSW |
7 |
43,267,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation