Incidental Mutation 'R5100:Zfp820'
| ID |
388237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp820
|
| Ensembl Gene |
ENSMUSG00000069743 |
| Gene Name |
zinc finger protein 820 |
| Synonyms |
2610036F08Rik |
| MMRRC Submission |
042689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R5100 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22035857-22064740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 22040054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 52
(V52L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084141]
|
| AlphaFold |
A0A3B2W7H5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084141
AA Change: V52L
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081158
Gene: ENSMUSG00000069743
AA Change: V52L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,477 (GRCm39) |
M774K |
probably damaging |
Het |
| Adamts3 |
G |
A |
5: 89,856,502 (GRCm39) |
T357I |
probably damaging |
Het |
| Ap3m2 |
T |
A |
8: 23,279,404 (GRCm39) |
M408L |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,833,149 (GRCm39) |
N1116K |
probably benign |
Het |
| Arhgap31 |
A |
T |
16: 38,421,821 (GRCm39) |
I1415N |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,530,963 (GRCm39) |
D1374E |
possibly damaging |
Het |
| Asxl1 |
C |
G |
2: 153,239,851 (GRCm39) |
N546K |
probably damaging |
Het |
| Cobll1 |
T |
A |
2: 64,956,245 (GRCm39) |
T337S |
probably benign |
Het |
| Depdc1a |
A |
T |
3: 159,221,157 (GRCm39) |
I163L |
probably benign |
Het |
| Flrt3 |
T |
A |
2: 140,513,304 (GRCm39) |
|
probably null |
Het |
| Foxn4 |
A |
T |
5: 114,394,820 (GRCm39) |
L369H |
possibly damaging |
Het |
| Gm11992 |
T |
C |
11: 9,011,290 (GRCm39) |
S244P |
probably damaging |
Het |
| Gm14412 |
C |
T |
2: 177,006,908 (GRCm39) |
C329Y |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm5113 |
G |
A |
7: 29,878,076 (GRCm39) |
V55M |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,269,986 (GRCm39) |
I599T |
probably benign |
Het |
| H2-Q6 |
G |
C |
17: 35,644,296 (GRCm39) |
E93Q |
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,156,843 (GRCm39) |
T570A |
probably damaging |
Het |
| Hspb8 |
T |
C |
5: 116,553,468 (GRCm39) |
I143M |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,821,059 (GRCm39) |
T655A |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Lrit1 |
T |
A |
14: 36,784,171 (GRCm39) |
C500S |
possibly damaging |
Het |
| Macf1 |
A |
C |
4: 123,368,261 (GRCm39) |
C602G |
probably benign |
Het |
| Mesd |
C |
T |
7: 83,546,977 (GRCm39) |
R147C |
probably damaging |
Het |
| Mfge8 |
A |
T |
7: 78,793,048 (GRCm39) |
D139E |
probably benign |
Het |
| Ncoa3 |
G |
A |
2: 165,892,017 (GRCm39) |
R131Q |
probably damaging |
Het |
| Ncoa5 |
A |
G |
2: 164,851,309 (GRCm39) |
I188T |
probably damaging |
Het |
| Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,897 (GRCm39) |
H120R |
probably benign |
Het |
| Otos |
T |
A |
1: 92,572,107 (GRCm39) |
H73L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,492,499 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
C |
3: 30,976,348 (GRCm39) |
E740G |
possibly damaging |
Het |
| Pla2g7 |
T |
C |
17: 43,922,267 (GRCm39) |
L382P |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,969,175 (GRCm39) |
R264L |
probably benign |
Het |
| Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,814,567 (GRCm39) |
I823F |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,364,463 (GRCm39) |
R828G |
probably damaging |
Het |
| Spred2 |
T |
A |
11: 19,971,291 (GRCm39) |
C386* |
probably null |
Het |
| Terb1 |
A |
T |
8: 105,221,805 (GRCm39) |
L165* |
probably null |
Het |
| Tgm2 |
A |
T |
2: 157,969,084 (GRCm39) |
S430R |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,929,902 (GRCm39) |
I2879F |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,896,130 (GRCm39) |
V977G |
probably damaging |
Het |
| Wnt5b |
A |
C |
6: 119,417,449 (GRCm39) |
S139A |
probably benign |
Het |
| Zfyve26 |
T |
A |
12: 79,326,832 (GRCm39) |
R764* |
probably null |
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 |
|
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 |
|
R6577:Zfp820
|
UTSW |
17 |
22,038,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ACACCACTGGATCCTCTTCTAAAG -3'
(R):5'- CACAATGTGCCTCTTATTCTTTAGG -3'
Sequencing Primer
(F):5'- CCACTGGATCCTCTTCTAAAGAATGG -3'
(R):5'- ATCCAGGAAAACACTTTTGTCCAGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation