Incidental Mutation 'IGL00234:Zfp82'
| ID |
2353 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp82
|
| Ensembl Gene |
ENSMUSG00000098022 |
| Gene Name |
zinc finger protein 82 |
| Synonyms |
KRAB16 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
IGL00234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29755459-29772248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29765755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 16
(S16L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138469
(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: S16L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079647
Gene: ENSMUSG00000098022
AA Change: S16L
| 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: S16L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138217
Gene: ENSMUSG00000098022
AA Change: S16L
| 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 damaging
Transcript: ENSMUST00000183190
AA Change: S16L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138469
Gene: ENSMUSG00000098022
AA Change: S16L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
8.68e-33 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
T |
C |
17: 34,000,242 (GRCm39) |
N42S |
probably damaging |
Het |
| Apoc4 |
A |
T |
7: 19,412,665 (GRCm39) |
S27T |
probably benign |
Het |
| Atp13a3 |
T |
A |
16: 30,170,097 (GRCm39) |
Q363L |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,667,295 (GRCm39) |
Y417H |
probably benign |
Het |
| Cry1 |
A |
G |
10: 84,982,698 (GRCm39) |
S243P |
probably benign |
Het |
| Epb41l2 |
A |
G |
10: 25,377,734 (GRCm39) |
T116A |
probably damaging |
Het |
| Foxb1 |
A |
G |
9: 69,667,480 (GRCm39) |
S17P |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,764,967 (GRCm39) |
L148H |
probably damaging |
Het |
| Hnrnpk |
T |
C |
13: 58,543,111 (GRCm39) |
|
probably benign |
Het |
| Icam5 |
G |
A |
9: 20,948,091 (GRCm39) |
|
probably null |
Het |
| Lats1 |
A |
G |
10: 7,567,330 (GRCm39) |
I34V |
probably damaging |
Het |
| Lipc |
A |
T |
9: 70,727,719 (GRCm39) |
Y43N |
possibly damaging |
Het |
| Maml3 |
A |
G |
3: 51,598,125 (GRCm39) |
I207T |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,346,810 (GRCm39) |
S761R |
probably damaging |
Het |
| Nubp1 |
G |
A |
16: 10,240,703 (GRCm39) |
G280S |
probably damaging |
Het |
| Or4d2 |
T |
G |
11: 87,784,191 (GRCm39) |
R186S |
possibly damaging |
Het |
| Pabpc4 |
A |
G |
4: 123,180,497 (GRCm39) |
N73S |
probably damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,577,568 (GRCm39) |
C163Y |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,145,708 (GRCm39) |
|
probably null |
Het |
| Psmd7 |
A |
G |
8: 108,312,342 (GRCm39) |
V85A |
probably damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,279,759 (GRCm39) |
V490A |
possibly damaging |
Het |
| Sh3tc1 |
A |
C |
5: 35,868,301 (GRCm39) |
S388A |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,221,677 (GRCm39) |
F2805L |
probably damaging |
Het |
| Yars2 |
T |
C |
16: 16,121,185 (GRCm39) |
L113P |
probably damaging |
Het |
|
| Other mutations in Zfp82 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2011-12-09 |
Incidental Mutation