Incidental Mutation 'R6577:Zfp820'
| ID |
523568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp820
|
| Ensembl Gene |
ENSMUSG00000069743 |
| Gene Name |
zinc finger protein 820 |
| Synonyms |
2610036F08Rik |
| MMRRC Submission |
044701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R6577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
22035857-22064740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22038384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 315
(I315V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084141]
|
| AlphaFold |
A0A3B2W7H5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084141
AA Change: I315V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000081158
Gene: ENSMUSG00000069743
AA Change: I315V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
8.77e-20 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
4.61e-5 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
5.29e-5 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
1.42e-5 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
491 |
513 |
1.13e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
T |
C |
2: 94,252,726 (GRCm39) |
Y348C |
probably benign |
Het |
| Ark2n |
T |
C |
18: 77,740,855 (GRCm39) |
T285A |
probably benign |
Het |
| Arl14 |
A |
G |
3: 69,130,405 (GRCm39) |
E184G |
probably benign |
Het |
| Asap3 |
T |
C |
4: 135,965,541 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,893,311 (GRCm39) |
V36E |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,298,659 (GRCm39) |
S100N |
probably benign |
Het |
| Cd27 |
T |
C |
6: 125,213,756 (GRCm39) |
T34A |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,061,436 (GRCm39) |
S274P |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,147,206 (GRCm39) |
T484I |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracd |
A |
T |
5: 77,013,947 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,183,449 (GRCm39) |
S304P |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,867,962 (GRCm39) |
V299M |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,384,861 (GRCm39) |
D850G |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,691,130 (GRCm39) |
N291S |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,922,138 (GRCm39) |
I563V |
probably benign |
Het |
| Hells |
C |
T |
19: 38,919,909 (GRCm39) |
Q20* |
probably null |
Het |
| Hid1 |
G |
C |
11: 115,245,462 (GRCm39) |
P448A |
possibly damaging |
Het |
| Igkv8-24 |
C |
T |
6: 70,193,947 (GRCm39) |
R87H |
possibly damaging |
Het |
| Irf6 |
A |
G |
1: 192,851,662 (GRCm39) |
S418G |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,301,420 (GRCm39) |
C424S |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,927,370 (GRCm39) |
|
probably null |
Het |
| Myo1a |
A |
T |
10: 127,551,189 (GRCm39) |
I678F |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,778,053 (GRCm39) |
|
probably null |
Het |
| Papolg |
GGACTTGGGATACTTACGCTTTG |
GG |
11: 23,829,857 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,901,153 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,108,867 (GRCm39) |
T623A |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,823,107 (GRCm39) |
N251D |
probably damaging |
Het |
| Skap1 |
T |
C |
11: 96,416,870 (GRCm39) |
Y52H |
probably damaging |
Het |
| Srp68 |
G |
A |
11: 116,156,290 (GRCm39) |
R113W |
probably damaging |
Het |
| Srsf12 |
T |
C |
4: 33,209,196 (GRCm39) |
|
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,526 (GRCm39) |
M312T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,262 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,710 (GRCm39) |
F304V |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,499,057 (GRCm39) |
L9F |
probably damaging |
Het |
| Tns3 |
G |
T |
11: 8,499,058 (GRCm39) |
D8E |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,829,473 (GRCm39) |
A765T |
probably damaging |
Het |
| Tut7 |
C |
T |
13: 59,955,975 (GRCm39) |
C45Y |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,465 (GRCm39) |
I276V |
probably benign |
Homo |
| Upb1 |
T |
G |
10: 75,248,723 (GRCm39) |
L81R |
probably damaging |
Het |
| Uros |
C |
A |
7: 133,302,569 (GRCm39) |
C73F |
probably damaging |
Het |
|
| Other mutations in Zfp820 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Zfp820
|
APN |
17 |
22,038,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00954:Zfp820
|
APN |
17 |
22,038,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01088:Zfp820
|
APN |
17 |
22,040,162 (GRCm39) |
nonsense |
probably null |
|
|
IGL03067:Zfp820
|
APN |
17 |
22,038,801 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0158:Zfp820
|
UTSW |
17 |
22,038,800 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0617:Zfp820
|
UTSW |
17 |
22,038,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0658:Zfp820
|
UTSW |
17 |
22,037,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0696:Zfp820
|
UTSW |
17 |
22,039,041 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0791:Zfp820
|
UTSW |
17 |
22,038,509 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0792:Zfp820
|
UTSW |
17 |
22,038,509 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0882:Zfp820
|
UTSW |
17 |
22,042,817 (GRCm39) |
splice site |
probably benign |
|
|
R1421:Zfp820
|
UTSW |
17 |
22,038,861 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1573:Zfp820
|
UTSW |
17 |
22,037,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1928:Zfp820
|
UTSW |
17 |
22,038,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3889:Zfp820
|
UTSW |
17 |
22,037,877 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4782:Zfp820
|
UTSW |
17 |
22,037,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4799:Zfp820
|
UTSW |
17 |
22,037,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4807:Zfp820
|
UTSW |
17 |
22,042,853 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4913:Zfp820
|
UTSW |
17 |
22,038,200 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5100:Zfp820
|
UTSW |
17 |
22,040,054 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5766:Zfp820
|
UTSW |
17 |
22,038,983 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5772:Zfp820
|
UTSW |
17 |
22,037,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Zfp820
|
UTSW |
17 |
22,038,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Zfp820
|
UTSW |
17 |
22,038,246 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7570:Zfp820
|
UTSW |
17 |
22,037,994 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7794:Zfp820
|
UTSW |
17 |
22,039,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8545:Zfp820
|
UTSW |
17 |
22,038,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Zfp820
|
UTSW |
17 |
22,037,876 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9072:Zfp820
|
UTSW |
17 |
22,039,031 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9073:Zfp820
|
UTSW |
17 |
22,039,031 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9325:Zfp820
|
UTSW |
17 |
22,038,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9421:Zfp820
|
UTSW |
17 |
22,038,336 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9480:Zfp820
|
UTSW |
17 |
22,037,994 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9592:Zfp820
|
UTSW |
17 |
22,038,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9600:Zfp820
|
UTSW |
17 |
22,038,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Zfp820
|
UTSW |
17 |
22,038,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACATTCACTACATTCGTAAGGTT -3'
(R):5'- TAGTGAATGTGACAAATGCTTTACCC -3'
Sequencing Primer
(F):5'- GTAAGGTTTCTCTCCTGTATGAATTC -3'
(R):5'- GTGAATGTGACAAAGGCTTTACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation