Incidental Mutation 'R7627:Zfp82'
| ID |
589497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp82
|
| Ensembl Gene |
ENSMUSG00000098022 |
| Gene Name |
zinc finger protein 82 |
| Synonyms |
KRAB16 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R7627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
29755459-29772248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29756147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 312
(G312W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080834]
[ENSMUST00000182546]
[ENSMUST00000182746]
[ENSMUST00000182919]
[ENSMUST00000183115]
[ENSMUST00000183190]
|
| AlphaFold |
Q6P9Y7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080834
AA Change: G342W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079647
Gene: ENSMUSG00000098022
AA Change: G342W
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
8.68e-33 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
196 |
218 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
224 |
246 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
280 |
300 |
5.2e0 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
336 |
358 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
364 |
386 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
420 |
442 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
448 |
470 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
476 |
498 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
504 |
526 |
1.92e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182546
AA Change: G312W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138217
Gene: ENSMUSG00000098022
AA Change: G312W
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
62 |
5.01e-15 |
SMART |
|
ZnF_C2H2
|
138 |
160 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
166 |
188 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
194 |
216 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
222 |
244 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
250 |
270 |
5.2e0 |
SMART |
|
ZnF_C2H2
|
278 |
300 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
306 |
328 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
334 |
356 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
362 |
384 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
390 |
412 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
418 |
440 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.92e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182746
|
| SMART Domains |
Protein: ENSMUSP00000138567
Gene: ENSMUSG00000058447
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
56 |
1.44e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182919
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183115
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183190
|
| SMART Domains |
Protein: ENSMUSP00000138469
Gene: ENSMUSG00000098022
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
8.68e-33 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230112D13Rik |
T |
A |
14: 34,234,055 (GRCm39) |
I79L |
unknown |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Acvrl1 |
G |
A |
15: 101,033,747 (GRCm39) |
R143Q |
probably benign |
Het |
| Adam22 |
A |
G |
5: 8,417,933 (GRCm39) |
S8P |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,690 (GRCm39) |
I2054T |
possibly damaging |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
A |
5: 31,217,508 (GRCm39) |
L354Q |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,253,698 (GRCm39) |
C184S |
unknown |
Het |
| Ccl8 |
A |
G |
11: 82,006,865 (GRCm39) |
D26G |
probably benign |
Het |
| Ccsap |
T |
C |
8: 124,569,097 (GRCm39) |
Y248C |
probably damaging |
Het |
| Col5a1 |
T |
G |
2: 27,840,665 (GRCm39) |
Y271* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,519,500 (GRCm39) |
N695S |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,156,140 (GRCm39) |
C234R |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,101,111 (GRCm39) |
D2758E |
probably benign |
Het |
| Eif2ak3 |
A |
T |
6: 70,869,919 (GRCm39) |
T869S |
probably benign |
Het |
| Foxn4 |
G |
T |
5: 114,398,495 (GRCm39) |
P175H |
possibly damaging |
Het |
| Gbp5 |
T |
G |
3: 142,206,319 (GRCm39) |
M1R |
probably null |
Het |
| Glp2r |
G |
T |
11: 67,637,589 (GRCm39) |
L30I |
unknown |
Het |
| Gls |
A |
T |
1: 52,205,425 (GRCm39) |
D639E |
probably benign |
Het |
| Gm5145 |
G |
T |
17: 20,790,654 (GRCm39) |
E11* |
probably null |
Het |
| Gm9772 |
T |
A |
17: 22,226,160 (GRCm39) |
K41N |
probably damaging |
Het |
| Gnat3 |
A |
T |
5: 18,204,746 (GRCm39) |
D133V |
|
Het |
| Gse1 |
C |
A |
8: 121,299,516 (GRCm39) |
P849T |
unknown |
Het |
| H2ac15 |
C |
A |
13: 21,937,916 (GRCm39) |
V28L |
probably benign |
Het |
| Hoxb9 |
A |
G |
11: 96,165,521 (GRCm39) |
T197A |
probably damaging |
Het |
| Krt39 |
A |
G |
11: 99,405,575 (GRCm39) |
S442P |
possibly damaging |
Het |
| Leng9 |
A |
G |
7: 4,151,617 (GRCm39) |
L353P |
probably damaging |
Het |
| Mamdc2 |
A |
T |
19: 23,288,355 (GRCm39) |
M561K |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,458,225 (GRCm39) |
V395A |
probably damaging |
Het |
| Mrpl32 |
G |
A |
13: 14,787,498 (GRCm39) |
R36C |
probably benign |
Het |
| Or6b2b |
A |
T |
1: 92,419,107 (GRCm39) |
Y123* |
probably null |
Het |
| Or7e168 |
A |
G |
9: 19,719,947 (GRCm39) |
D111G |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,290,873 (GRCm39) |
D205E |
probably benign |
Het |
| Pdlim2 |
T |
C |
14: 70,408,924 (GRCm39) |
D151G |
probably benign |
Het |
| Pdxp |
T |
C |
15: 78,798,339 (GRCm39) |
V57A |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,061,594 (GRCm39) |
E2781V |
probably damaging |
Het |
| Prr7 |
GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC |
GCGCCGCCGCAC |
13: 55,620,147 (GRCm39) |
|
probably benign |
Het |
| Rnf32 |
G |
A |
5: 29,402,948 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,776,213 (GRCm39) |
V1108A |
possibly damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,686,104 (GRCm39) |
H276R |
probably benign |
Het |
| Slco1a7 |
C |
T |
6: 141,690,271 (GRCm39) |
V161I |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,032,944 (GRCm39) |
D1000E |
probably damaging |
Het |
| Sva |
C |
A |
6: 42,019,598 (GRCm39) |
Q153K |
unknown |
Het |
| Tmprss11d |
T |
C |
5: 86,457,365 (GRCm39) |
Y236C |
possibly damaging |
Het |
| Zfp160 |
T |
C |
17: 21,247,270 (GRCm39) |
S607P |
probably damaging |
Het |
|
| Other mutations in Zfp82 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Zfp82
|
APN |
7 |
29,765,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Zfp82
|
APN |
7 |
29,756,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
G1citation:Zfp82
|
UTSW |
7 |
29,755,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Zfp82
|
UTSW |
7 |
29,756,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Zfp82
|
UTSW |
7 |
29,755,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Zfp82
|
UTSW |
7 |
29,756,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Zfp82
|
UTSW |
7 |
29,755,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Zfp82
|
UTSW |
7 |
29,755,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Zfp82
|
UTSW |
7 |
29,756,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Zfp82
|
UTSW |
7 |
29,756,779 (GRCm39) |
missense |
probably benign |
|
|
R2198:Zfp82
|
UTSW |
7 |
29,756,936 (GRCm39) |
missense |
probably benign |
|
|
R2892:Zfp82
|
UTSW |
7 |
29,755,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Zfp82
|
UTSW |
7 |
29,755,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4932:Zfp82
|
UTSW |
7 |
29,756,312 (GRCm39) |
splice site |
probably null |
|
|
R5377:Zfp82
|
UTSW |
7 |
29,756,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Zfp82
|
UTSW |
7 |
29,756,549 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6822:Zfp82
|
UTSW |
7 |
29,755,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Zfp82
|
UTSW |
7 |
29,755,592 (GRCm39) |
missense |
probably benign |
|
|
R7163:Zfp82
|
UTSW |
7 |
29,761,669 (GRCm39) |
missense |
probably benign |
|
|
R7450:Zfp82
|
UTSW |
7 |
29,756,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Zfp82
|
UTSW |
7 |
29,755,597 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7631:Zfp82
|
UTSW |
7 |
29,755,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Zfp82
|
UTSW |
7 |
29,756,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Zfp82
|
UTSW |
7 |
29,761,652 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9022:Zfp82
|
UTSW |
7 |
29,761,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9659:Zfp82
|
UTSW |
7 |
29,755,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Zfp82
|
UTSW |
7 |
29,755,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Zfp82
|
UTSW |
7 |
29,756,450 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Z1186:Zfp82
|
UTSW |
7 |
29,756,260 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAGCTGAGAGAGGAGTCT -3'
(R):5'- ATACGGCCCCGAGCTCAG -3'
Sequencing Primer
(F):5'- ACCCCAATATGGATGCTCTGATG -3'
(R):5'- TCTCCATCAGAGGATCCATACTGGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation