Incidental Mutation 'R6080:Zfp819'
| ID |
482884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp819
|
| Ensembl Gene |
ENSMUSG00000055102 |
| Gene Name |
zinc finger protein 819 |
| Synonyms |
4933405K07Rik, 4930427I11Rik |
| MMRRC Submission |
044239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43256593-43267709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43266120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 201
(H201R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032661]
[ENSMUST00000116324]
[ENSMUST00000120935]
[ENSMUST00000127765]
|
| AlphaFold |
Q80V81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032661
AA Change: H201R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: H201R
| 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: ENSMUST00000116324
AA Change: H201R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: H201R
| 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
AA Change: H125R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: H125R
| 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 |
probably benign
Transcript: ENSMUST00000127765
|
| SMART Domains |
Protein: ENSMUSP00000116658
Gene: ENSMUSG00000055102
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
27 |
85 |
1.69e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,906,462 (GRCm39) |
M44I |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 90,802,211 (GRCm39) |
S1209* |
probably null |
Het |
| Atp9b |
A |
G |
18: 80,782,023 (GRCm39) |
V1039A |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,099,271 (GRCm39) |
S278P |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,992,876 (GRCm39) |
K246R |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,881,197 (GRCm39) |
D330E |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,882,961 (GRCm39) |
M2940L |
possibly damaging |
Het |
| Gm14326 |
T |
A |
2: 177,578,339 (GRCm39) |
T68S |
probably benign |
Het |
| Gm4922 |
A |
C |
10: 18,660,500 (GRCm39) |
I74S |
probably damaging |
Het |
| Ints14 |
G |
A |
9: 64,874,044 (GRCm39) |
V99I |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,332,345 (GRCm39) |
S1681P |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,678,316 (GRCm39) |
E513G |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,305,035 (GRCm39) |
N252I |
probably damaging |
Het |
| Naga |
A |
G |
15: 82,219,048 (GRCm39) |
V233A |
probably benign |
Het |
| Npc1 |
C |
T |
18: 12,352,408 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,814,050 (GRCm39) |
Y123S |
probably damaging |
Het |
| Or52n4 |
T |
C |
7: 104,294,517 (GRCm39) |
I19V |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,771,116 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i2 |
C |
A |
19: 13,816,464 (GRCm39) |
L24F |
possibly damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Plag1 |
T |
C |
4: 3,903,815 (GRCm39) |
T459A |
probably benign |
Het |
| Rnase9 |
T |
C |
14: 51,276,727 (GRCm39) |
T84A |
probably benign |
Het |
| Rps6kb2 |
T |
A |
19: 4,208,671 (GRCm39) |
I282F |
probably benign |
Het |
| Smg5 |
A |
G |
3: 88,258,816 (GRCm39) |
T596A |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,218,524 (GRCm39) |
V256A |
possibly damaging |
Het |
| Vgll4 |
T |
C |
6: 114,898,299 (GRCm39) |
I21V |
probably benign |
Het |
| Vipas39 |
T |
A |
12: 87,288,727 (GRCm39) |
H426L |
probably damaging |
Het |
| Vmn1r224 |
A |
G |
17: 20,639,818 (GRCm39) |
T132A |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,143,283 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,043 (GRCm39) |
N663K |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,674,090 (GRCm39) |
H281Q |
probably benign |
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 |
|
|
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 |
|
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'- TCCATTATCGAGGAACCGTGG -3'
(R):5'- GCATAAATGGTTGCTGAGGG -3'
Sequencing Primer
(F):5'- GGTGGTGACCCTAAAACTTCAGATC -3'
(R):5'- GCTGGGAACACTTGCACATTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation