Incidental Mutation 'R4274:Zfp82'
| ID |
324704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp82
|
| Ensembl Gene |
ENSMUSG00000098022 |
| Gene Name |
zinc finger protein 82 |
| Synonyms |
KRAB16 |
| MMRRC Submission |
041077-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R4274 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29755459-29772248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29755792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 430
(R430H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080834]
[ENSMUST00000182546]
[ENSMUST00000182746]
[ENSMUST00000182919]
[ENSMUST00000183115]
[ENSMUST00000207072]
[ENSMUST00000207873]
[ENSMUST00000183190]
|
| AlphaFold |
Q6P9Y7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080834
AA Change: R460H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079647
Gene: ENSMUSG00000098022
AA Change: R460H
| 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: R430H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138217
Gene: ENSMUSG00000098022
AA Change: R430H
| 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: ENSMUST00000207072
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207873
|
| 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 |
|
| Meta Mutation Damage Score |
0.3647 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,980,930 (GRCm39) |
Y36C |
probably damaging |
Het |
| Abcc4 |
T |
C |
14: 118,867,034 (GRCm39) |
R228G |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,932 (GRCm39) |
S528T |
probably benign |
Het |
| Adamts6 |
T |
A |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
| Ano8 |
G |
T |
8: 71,931,385 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,690,608 (GRCm39) |
Q48P |
probably benign |
Het |
| Atp13a1 |
T |
G |
8: 70,257,942 (GRCm39) |
L899R |
probably benign |
Het |
| Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,828,820 (GRCm39) |
*295R |
probably null |
Het |
| Dhx9 |
A |
G |
1: 153,344,672 (GRCm39) |
I505T |
probably damaging |
Het |
| Dnajc17 |
A |
T |
2: 119,016,866 (GRCm39) |
S37T |
probably benign |
Het |
| Dot1l |
T |
A |
10: 80,619,822 (GRCm39) |
|
probably null |
Het |
| Dph7 |
A |
G |
2: 24,853,512 (GRCm39) |
N109S |
possibly damaging |
Het |
| Ednra |
C |
T |
8: 78,446,931 (GRCm39) |
G49D |
probably benign |
Het |
| Fam83g |
T |
C |
11: 61,592,554 (GRCm39) |
M259T |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,862,464 (GRCm39) |
D1736E |
probably damaging |
Het |
| Fetub |
T |
C |
16: 22,754,429 (GRCm39) |
I212T |
probably damaging |
Het |
| Foxc2 |
C |
A |
8: 121,844,439 (GRCm39) |
S362R |
probably benign |
Het |
| Gm8444 |
A |
G |
15: 81,727,734 (GRCm39) |
|
probably benign |
Het |
| Gpank1 |
G |
A |
17: 35,343,245 (GRCm39) |
E242K |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,522,896 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,819 (GRCm39) |
W3R |
probably damaging |
Het |
| Kcnq1 |
T |
C |
7: 142,738,179 (GRCm39) |
I209T |
probably damaging |
Het |
| Me3 |
A |
T |
7: 89,455,934 (GRCm39) |
E262V |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 82,009,064 (GRCm39) |
R1233Q |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,574 (GRCm39) |
|
noncoding transcript |
Het |
| Or4k37 |
A |
T |
2: 111,159,160 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or5p6 |
C |
A |
7: 107,630,751 (GRCm39) |
K266N |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,623,364 (GRCm39) |
D70E |
probably damaging |
Het |
| Ostm1 |
T |
C |
10: 42,574,230 (GRCm39) |
F153L |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,751 (GRCm39) |
T532I |
possibly damaging |
Het |
| Prpf40a |
G |
A |
2: 53,036,184 (GRCm39) |
H624Y |
probably damaging |
Het |
| Rtn2 |
T |
C |
7: 19,021,249 (GRCm39) |
S210P |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,927,734 (GRCm39) |
Q24R |
probably benign |
Het |
| Smurf1 |
T |
C |
5: 144,833,585 (GRCm39) |
|
probably benign |
Het |
| Ssr1 |
G |
A |
13: 38,169,266 (GRCm39) |
L225F |
possibly damaging |
Het |
| Tlr6 |
A |
G |
5: 65,110,981 (GRCm39) |
I642T |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,729,405 (GRCm39) |
K1674R |
unknown |
Het |
| Tns1 |
T |
A |
1: 73,967,257 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Trim56 |
T |
A |
5: 137,142,541 (GRCm39) |
E325V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,606,318 (GRCm39) |
T18164A |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Vmn2r125 |
T |
C |
4: 156,702,382 (GRCm39) |
I56T |
probably benign |
Het |
| Xkr5 |
T |
A |
8: 18,984,183 (GRCm39) |
H453L |
probably benign |
Het |
| Zcchc7 |
C |
T |
4: 44,931,335 (GRCm39) |
H496Y |
possibly damaging |
Het |
| Zscan22 |
T |
C |
7: 12,640,251 (GRCm39) |
V6A |
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 |
|
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'- GGTGAGAATGTTGTCTAAAGGCC -3'
(R):5'- GTCGACAGACTGTACGAGTG -3'
Sequencing Primer
(F):5'- ATGTTGTCTAAAGGCCTTCTTACAC -3'
(R):5'- CGTTTAGAGTTCGACAGCAGCTAAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation