Incidental Mutation 'R1314:Zfp819'
| ID |
157504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp819
|
| Ensembl Gene |
ENSMUSG00000055102 |
| Gene Name |
zinc finger protein 819 |
| Synonyms |
4933405K07Rik, 4930427I11Rik |
| MMRRC Submission |
039380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R1314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43256593-43267709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43266480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 321
(T321I)
|
| 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: T321I
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: T321I
| 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: T321I
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: T321I
| 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: T245I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: T245I
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,379,072 (GRCm39) |
L659P |
probably damaging |
Het |
| Cachd1 |
G |
T |
4: 100,832,114 (GRCm39) |
G759C |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,034,418 (GRCm39) |
V95E |
probably damaging |
Het |
| Elp1 |
T |
A |
4: 56,786,647 (GRCm39) |
H432L |
probably benign |
Het |
| Filip1 |
T |
A |
9: 79,727,848 (GRCm39) |
H257L |
probably damaging |
Het |
| Gfi1 |
A |
T |
5: 107,869,740 (GRCm39) |
|
probably null |
Het |
| Golim4 |
T |
C |
3: 75,793,595 (GRCm39) |
E579G |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,592,481 (GRCm39) |
W140R |
probably damaging |
Het |
| Nutm1 |
A |
G |
2: 112,080,154 (GRCm39) |
I587T |
probably benign |
Het |
| Or4c10b |
A |
G |
2: 89,711,221 (GRCm39) |
E17G |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,786,343 (GRCm39) |
S201P |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,482,091 (GRCm39) |
A378V |
possibly damaging |
Het |
| Rarb |
A |
G |
14: 16,508,932 (GRCm38) |
|
probably null |
Het |
| Rfc2 |
T |
A |
5: 134,620,054 (GRCm39) |
N167K |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,623,145 (GRCm39) |
T749A |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tectb |
A |
G |
19: 55,172,417 (GRCm39) |
N155D |
probably damaging |
Het |
| Tnpo1 |
G |
A |
13: 98,997,230 (GRCm39) |
P400S |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,665,397 (GRCm39) |
T367A |
probably benign |
Het |
| Vmn2r39 |
A |
T |
7: 9,017,981 (GRCm39) |
M785K |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACTCTTTCTCAGGACAAGCCAG -3'
(R):5'- GATGCATAGACAAACAATTTCCCGCAG -3'
Sequencing Primer
(F):5'- TCTCAGGACAAGCCAGTTGAATATAC -3'
(R):5'- cacagtcagaacacacataagg -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation