Incidental Mutation 'R9421:Zfp820'
ID |
712352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp820
|
Ensembl Gene |
ENSMUSG00000069743 |
Gene Name |
zinc finger protein 820 |
Synonyms |
2610036F08Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R9421 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
22035857-22064740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 22038336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 331
(C331S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084141]
|
AlphaFold |
A0A3B2W7H5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084141
AA Change: C331S
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000081158 Gene: ENSMUSG00000069743 AA Change: C331S
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
T |
A |
11: 58,177,451 (GRCm39) |
N53K |
|
Het |
Alpk1 |
C |
T |
3: 127,467,069 (GRCm39) |
R1070Q |
probably damaging |
Het |
AU018091 |
T |
C |
7: 3,208,085 (GRCm39) |
I541V |
probably benign |
Het |
B3galt2 |
A |
T |
1: 143,522,364 (GRCm39) |
R167* |
probably null |
Het |
Bltp3a |
A |
T |
17: 28,095,660 (GRCm39) |
D23V |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,493,658 (GRCm39) |
L1660S |
probably damaging |
Het |
Card11 |
A |
T |
5: 140,869,462 (GRCm39) |
I778N |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Cpne3 |
A |
T |
4: 19,536,561 (GRCm39) |
M233K |
probably benign |
Het |
Cxcl13 |
T |
A |
5: 96,107,789 (GRCm39) |
W82R |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,501,509 (GRCm39) |
Y1848F |
probably damaging |
Het |
Ednra |
G |
A |
8: 78,391,681 (GRCm39) |
T403M |
probably damaging |
Het |
Fbl |
A |
G |
7: 27,875,439 (GRCm39) |
I186V |
probably benign |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Gorasp2 |
T |
C |
2: 70,509,867 (GRCm39) |
V176A |
probably damaging |
Het |
Gpr151 |
T |
C |
18: 42,712,220 (GRCm39) |
I153V |
probably benign |
Het |
Kat6a |
C |
T |
8: 23,398,322 (GRCm39) |
L297F |
probably damaging |
Het |
Kcnq4 |
T |
A |
4: 120,573,868 (GRCm39) |
I198F |
possibly damaging |
Het |
Kdm7a |
A |
G |
6: 39,129,763 (GRCm39) |
V471A |
possibly damaging |
Het |
Ltn1 |
A |
T |
16: 87,215,375 (GRCm39) |
M420K |
possibly damaging |
Het |
Lypd6b |
A |
G |
2: 49,832,552 (GRCm39) |
E39G |
probably benign |
Het |
Man2b2 |
T |
C |
5: 36,978,271 (GRCm39) |
T338A |
probably benign |
Het |
Mcm7 |
T |
C |
5: 138,165,477 (GRCm39) |
T476A |
possibly damaging |
Het |
Or1e30 |
T |
A |
11: 73,677,927 (GRCm39) |
H54Q |
probably benign |
Het |
Or2y10 |
G |
T |
11: 49,455,201 (GRCm39) |
G151V |
probably benign |
Het |
Or51h5 |
T |
A |
7: 102,577,711 (GRCm39) |
I292K |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,375,114 (GRCm39) |
F1674I |
|
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pilrb1 |
A |
G |
5: 137,853,296 (GRCm39) |
V169A |
probably benign |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Rsf1 |
GC |
GCGGCGGCGAC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
Slc49a4 |
C |
A |
16: 35,518,372 (GRCm39) |
W447L |
|
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Stxbp2 |
T |
C |
8: 3,682,264 (GRCm39) |
W27R |
|
Het |
Tle6 |
G |
A |
10: 81,429,868 (GRCm39) |
T410M |
|
Het |
Ttyh2 |
C |
G |
11: 114,587,633 (GRCm39) |
Y211* |
probably null |
Het |
Ubap2l |
T |
A |
3: 89,955,108 (GRCm39) |
Q20L |
possibly damaging |
Het |
Usp19 |
T |
C |
9: 108,376,792 (GRCm39) |
Y1122H |
probably damaging |
Het |
Zcchc2 |
G |
T |
1: 105,950,987 (GRCm39) |
V574L |
probably benign |
Het |
Zfp532 |
G |
A |
18: 65,757,308 (GRCm39) |
V414I |
probably benign |
Het |
Zfp616 |
A |
C |
11: 73,974,331 (GRCm39) |
N291T |
possibly damaging |
Het |
Zfp94 |
G |
A |
7: 24,002,978 (GRCm39) |
R155* |
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 |
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 |
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 |
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'- TTCGCAGATGAATTCTAAGATTGCC -3'
(R):5'- TTCATCAGAGAGTTCATACAGGAGAGA -3'
Sequencing Primer
(F):5'- TGCCACATTCACTACATTCGTAAGG -3'
(R):5'- TCATACAAATGCAGTGAATGTGAC -3'
|
Posted On |
2022-05-16 |