Incidental Mutation 'R6822:Zfp82'
| ID |
537668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp82
|
| Ensembl Gene |
ENSMUSG00000098022 |
| Gene Name |
zinc finger protein 82 |
| Synonyms |
KRAB16 |
| MMRRC Submission |
044934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R6822 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29755459-29772248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29755712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 457
(L457F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080834]
[ENSMUST00000182546]
[ENSMUST00000182746]
[ENSMUST00000182919]
[ENSMUST00000183115]
[ENSMUST00000183190]
[ENSMUST00000207072]
[ENSMUST00000207873]
|
| AlphaFold |
Q6P9Y7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080834
AA Change: L487F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079647
Gene: ENSMUSG00000098022
AA Change: L487F
| 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: L457F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138217
Gene: ENSMUSG00000098022
AA Change: L457F
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207072
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207873
|
| Meta Mutation Damage Score |
0.0768 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
94% (46/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
G |
A |
11: 102,667,501 (GRCm39) |
R687Q |
possibly damaging |
Het |
| AI987944 |
A |
G |
7: 41,024,232 (GRCm39) |
L249P |
probably damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,458,797 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
T |
C |
11: 120,178,547 (GRCm39) |
S2369P |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,887,377 (GRCm39) |
S902P |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,905,039 (GRCm39) |
K1277N |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,842,474 (GRCm39) |
E821G |
probably benign |
Het |
| Cct8l1 |
T |
C |
5: 25,722,937 (GRCm39) |
S551P |
possibly damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Cyp2c39 |
A |
T |
19: 39,525,261 (GRCm39) |
D188V |
probably damaging |
Het |
| Dclk3 |
G |
T |
9: 111,268,405 (GRCm39) |
A25S |
probably benign |
Het |
| Dpep2 |
A |
T |
8: 106,711,873 (GRCm39) |
M518K |
probably benign |
Het |
| Dst |
T |
C |
1: 34,314,755 (GRCm39) |
V6462A |
probably damaging |
Het |
| Entpd3 |
T |
C |
9: 120,391,104 (GRCm39) |
|
probably null |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,624 (GRCm39) |
V199A |
probably damaging |
Het |
| Fam193b |
A |
G |
13: 55,689,504 (GRCm39) |
|
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,806,781 (GRCm39) |
Y2250N |
probably damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| H2-Aa |
C |
T |
17: 34,506,651 (GRCm39) |
|
probably null |
Het |
| Igsf9 |
T |
A |
1: 172,324,730 (GRCm39) |
S883T |
possibly damaging |
Het |
| Kcnh7 |
T |
G |
2: 62,618,248 (GRCm39) |
I414L |
probably damaging |
Het |
| Kcnma1 |
T |
C |
14: 24,053,812 (GRCm39) |
|
probably null |
Het |
| Kcnmb1 |
T |
C |
11: 33,914,686 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,747,340 (GRCm39) |
|
probably benign |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
G |
A |
16: 21,741,013 (GRCm39) |
S780N |
probably benign |
Het |
| Nlgn1 |
T |
C |
3: 26,187,796 (GRCm39) |
T30A |
probably benign |
Het |
| Nucb1 |
A |
G |
7: 45,148,289 (GRCm39) |
F175L |
probably damaging |
Het |
| Pax6 |
T |
A |
2: 105,516,268 (GRCm39) |
V182E |
probably benign |
Het |
| Ptger1 |
A |
G |
8: 84,395,279 (GRCm39) |
D252G |
probably benign |
Het |
| Rexo4 |
T |
C |
2: 26,850,283 (GRCm39) |
D275G |
probably damaging |
Het |
| Ripk4 |
T |
C |
16: 97,547,236 (GRCm39) |
D342G |
probably damaging |
Het |
| Rpl10l |
A |
T |
12: 66,330,987 (GRCm39) |
C49S |
possibly damaging |
Het |
| Sema7a |
T |
C |
9: 57,867,619 (GRCm39) |
F457S |
probably damaging |
Het |
| Shank3 |
G |
A |
15: 89,415,830 (GRCm39) |
D155N |
probably damaging |
Het |
| Smpd3 |
G |
A |
8: 106,992,596 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,458,097 (GRCm39) |
V465A |
probably damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,115,107 (GRCm39) |
V364A |
probably damaging |
Het |
| Sos2 |
C |
T |
12: 69,697,423 (GRCm39) |
R99Q |
probably damaging |
Het |
| Spry2 |
G |
A |
14: 106,130,791 (GRCm39) |
Q132* |
probably null |
Het |
| Tbx19 |
G |
T |
1: 164,967,709 (GRCm39) |
P346Q |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,938,106 (GRCm39) |
Y981H |
probably damaging |
Het |
| Tinag |
T |
C |
9: 76,938,984 (GRCm39) |
K165E |
probably benign |
Het |
| Tubb4a |
A |
T |
17: 57,387,904 (GRCm39) |
I374N |
probably damaging |
Het |
| Umodl1 |
C |
T |
17: 31,205,528 (GRCm39) |
Q708* |
probably null |
Het |
| Vmn2r3 |
A |
T |
3: 64,194,876 (GRCm39) |
V14E |
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 |
|
|
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 |
|
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'- ATAAAACCACTTATGCCAGGTCAGTT -3'
(R):5'- CAGACTCCTCTCTCAGCTCA -3'
Sequencing Primer
(F):5'- ACCACTTATGCCAGGTCAGTTACATG -3'
(R):5'- TCACACAGCATCAGAGTGTTCATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation