Incidental Mutation 'R2892:Zfp82'
| ID |
260127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp82
|
| Ensembl Gene |
ENSMUSG00000098022 |
| Gene Name |
zinc finger protein 82 |
| Synonyms |
KRAB16 |
| MMRRC Submission |
040480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R2892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
29755459-29772248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29755864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 406
(T406I)
|
| 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: T436I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079647
Gene: ENSMUSG00000098022
AA Change: T436I
| 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 |
noncoding transcript
Transcript: ENSMUST00000182483
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182546
AA Change: T406I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138217
Gene: ENSMUSG00000098022
AA Change: T406I
| 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 |
noncoding transcript
Transcript: ENSMUST00000183025
|
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,751,661 (GRCm39) |
D232G |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atp6v0a4 |
T |
C |
6: 38,029,952 (GRCm39) |
E704G |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,045,104 (GRCm39) |
Y378H |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,735,770 (GRCm39) |
V574A |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,668,473 (GRCm39) |
V379A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,182 (GRCm39) |
D55G |
probably benign |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Defa30 |
A |
T |
8: 21,624,679 (GRCm39) |
M1L |
probably damaging |
Het |
| Fzd8 |
G |
T |
18: 9,214,514 (GRCm39) |
G532V |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,933,894 (GRCm39) |
F717S |
possibly damaging |
Het |
| Gckr |
T |
C |
5: 31,483,816 (GRCm39) |
V563A |
probably benign |
Het |
| Ighv1-24 |
T |
G |
12: 114,736,679 (GRCm39) |
K74Q |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
T |
G |
14: 34,118,587 (GRCm39) |
F158V |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,817,029 (GRCm39) |
V33M |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,341,648 (GRCm39) |
S136P |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,809 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Or7g27 |
A |
G |
9: 19,250,034 (GRCm39) |
T93A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,617,797 (GRCm39) |
S153P |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,170,767 (GRCm39) |
D633G |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plrg1 |
C |
A |
3: 82,978,547 (GRCm39) |
Q438K |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,493,972 (GRCm39) |
Y215H |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,073,697 (GRCm39) |
L1365P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,338,849 (GRCm39) |
T560A |
possibly damaging |
Het |
| Ttll2 |
T |
C |
17: 7,620,098 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R7627:Zfp82
|
UTSW |
7 |
29,756,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTGAGAATGTTGTCTAAAGGCC -3'
(R):5'- ATGTCGTCGACAGACTGTACG -3'
Sequencing Primer
(F):5'- CACCAGAATGGATTCTCAGATGTTGG -3'
(R):5'- CGTTTAGAGTTCGACAGCAGCTAAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation