Incidental Mutation 'R8543:Zfp282'
| ID |
659466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp282
|
| Ensembl Gene |
ENSMUSG00000025821 |
| Gene Name |
zinc finger protein 282 |
| Synonyms |
HUB1 |
| MMRRC Submission |
068508-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R8543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
47854138-47885419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47881561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 416
(Q416R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061890]
|
| AlphaFold |
E9PVC2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061890
AA Change: Q416R
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: Q416R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
Pfam:DUF3669
|
98 |
168 |
1.8e-12 |
PFAM |
|
KRAB
|
198 |
260 |
1.04e-21 |
SMART |
|
internal_repeat_1
|
317 |
372 |
1.1e-13 |
PROSPERO |
|
low complexity region
|
387 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
499 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
514 |
536 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
570 |
592 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
598 |
620 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
626 |
648 |
1.06e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
A |
17: 43,624,097 (GRCm39) |
L839Q |
probably null |
Het |
| Ampd1 |
T |
A |
3: 102,986,486 (GRCm39) |
F55Y |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,838,266 (GRCm39) |
E891G |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,709,712 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
A |
G |
2: 118,533,604 (GRCm39) |
|
probably benign |
Het |
| Arhgap30 |
T |
C |
1: 171,232,530 (GRCm39) |
S392P |
probably damaging |
Het |
| Arhgef11 |
A |
T |
3: 87,589,181 (GRCm39) |
K16M |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,872,860 (GRCm39) |
V373A |
probably damaging |
Het |
| Blm |
A |
G |
7: 80,143,964 (GRCm39) |
M822T |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,713 (GRCm39) |
N102D |
probably benign |
Het |
| Cdk14 |
A |
T |
5: 5,430,079 (GRCm39) |
M16K |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,738,122 (GRCm39) |
Y2574H |
probably damaging |
Het |
| Coro1a |
C |
A |
7: 126,301,188 (GRCm39) |
C104F |
probably damaging |
Het |
| D130043K22Rik |
T |
A |
13: 25,073,852 (GRCm39) |
L977Q |
probably benign |
Het |
| Dcaf1 |
T |
G |
9: 106,735,277 (GRCm39) |
S742A |
probably benign |
Het |
| Dnajb11 |
A |
T |
16: 22,681,335 (GRCm39) |
I38L |
probably benign |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,031,643 (GRCm39) |
H2476P |
probably damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Gm14326 |
G |
A |
2: 177,587,452 (GRCm39) |
R515W |
probably damaging |
Het |
| Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
| Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
| Gpr182 |
T |
C |
10: 127,586,861 (GRCm39) |
H30R |
probably benign |
Het |
| Gprc5c |
T |
A |
11: 114,755,094 (GRCm39) |
V257E |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,019,341 (GRCm39) |
T982A |
probably benign |
Het |
| Ighg2b |
C |
A |
12: 113,270,552 (GRCm39) |
A193S |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,275,678 (GRCm39) |
V329E |
possibly damaging |
Het |
| Kcnj6 |
A |
T |
16: 94,563,250 (GRCm39) |
V398E |
possibly damaging |
Het |
| Lef1 |
T |
A |
3: 130,909,138 (GRCm39) |
N117K |
possibly damaging |
Het |
| Ltbp4 |
T |
C |
7: 27,024,666 (GRCm39) |
S655G |
possibly damaging |
Het |
| Magi3 |
A |
T |
3: 104,126,984 (GRCm39) |
I100N |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,126,257 (GRCm39) |
A222T |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,787,394 (GRCm39) |
E318G |
probably damaging |
Het |
| Nqo2 |
A |
T |
13: 34,169,297 (GRCm39) |
|
probably null |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,386 (GRCm39) |
M45K |
probably damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,511,229 (GRCm39) |
S324P |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rin1 |
A |
G |
19: 5,102,100 (GRCm39) |
D203G |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,340,417 (GRCm39) |
E128V |
probably damaging |
Het |
| Slc3a1 |
C |
A |
17: 85,335,925 (GRCm39) |
N22K |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tmco4 |
G |
T |
4: 138,781,251 (GRCm39) |
V472L |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,345,799 (GRCm39) |
E241G |
probably benign |
Het |
| Trim17 |
T |
A |
11: 58,862,281 (GRCm39) |
S438T |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,732,374 (GRCm39) |
R6G |
probably benign |
Het |
| Vcl |
G |
T |
14: 21,045,127 (GRCm39) |
L277F |
probably benign |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,648 (GRCm39) |
M152I |
probably benign |
Het |
| Vmn2r94 |
C |
T |
17: 18,463,984 (GRCm39) |
V769I |
possibly damaging |
Het |
| Vps13d |
G |
T |
4: 144,743,353 (GRCm39) |
S3027* |
probably null |
Het |
| Zfp668 |
A |
G |
7: 127,466,392 (GRCm39) |
L264P |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,655 (GRCm39) |
Y172H |
probably damaging |
Het |
|
| Other mutations in Zfp282 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00732:Zfp282
|
APN |
6 |
47,857,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00755:Zfp282
|
APN |
6 |
47,857,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01402:Zfp282
|
APN |
6 |
47,874,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01404:Zfp282
|
APN |
6 |
47,874,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01484:Zfp282
|
APN |
6 |
47,867,054 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01560:Zfp282
|
APN |
6 |
47,857,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02949:Zfp282
|
APN |
6 |
47,874,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Zfp282
|
UTSW |
6 |
47,881,731 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Zfp282
|
UTSW |
6 |
47,881,725 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp282
|
UTSW |
6 |
47,881,733 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp282
|
UTSW |
6 |
47,881,724 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Zfp282
|
UTSW |
6 |
47,881,724 (GRCm39) |
small insertion |
probably benign |
|
|
R0020:Zfp282
|
UTSW |
6 |
47,856,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Zfp282
|
UTSW |
6 |
47,856,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Zfp282
|
UTSW |
6 |
47,869,866 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0415:Zfp282
|
UTSW |
6 |
47,881,987 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0415:Zfp282
|
UTSW |
6 |
47,874,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0607:Zfp282
|
UTSW |
6 |
47,857,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0710:Zfp282
|
UTSW |
6 |
47,857,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0946:Zfp282
|
UTSW |
6 |
47,856,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Zfp282
|
UTSW |
6 |
47,881,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1401:Zfp282
|
UTSW |
6 |
47,867,108 (GRCm39) |
nonsense |
probably null |
|
|
R1572:Zfp282
|
UTSW |
6 |
47,869,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Zfp282
|
UTSW |
6 |
47,874,721 (GRCm39) |
splice site |
probably null |
|
|
R2971:Zfp282
|
UTSW |
6 |
47,874,866 (GRCm39) |
splice site |
probably null |
|
|
R4064:Zfp282
|
UTSW |
6 |
47,857,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4478:Zfp282
|
UTSW |
6 |
47,867,630 (GRCm39) |
nonsense |
probably null |
|
|
R4530:Zfp282
|
UTSW |
6 |
47,867,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4532:Zfp282
|
UTSW |
6 |
47,867,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5068:Zfp282
|
UTSW |
6 |
47,854,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5261:Zfp282
|
UTSW |
6 |
47,874,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Zfp282
|
UTSW |
6 |
47,882,261 (GRCm39) |
missense |
probably benign |
|
|
R5551:Zfp282
|
UTSW |
6 |
47,867,579 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6046:Zfp282
|
UTSW |
6 |
47,857,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:Zfp282
|
UTSW |
6 |
47,857,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7535:Zfp282
|
UTSW |
6 |
47,881,878 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8098:Zfp282
|
UTSW |
6 |
47,867,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8158:Zfp282
|
UTSW |
6 |
47,867,626 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8304:Zfp282
|
UTSW |
6 |
47,881,722 (GRCm39) |
small deletion |
probably benign |
|
|
R8385:Zfp282
|
UTSW |
6 |
47,882,023 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8817:Zfp282
|
UTSW |
6 |
47,881,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
S24628:Zfp282
|
UTSW |
6 |
47,881,987 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
S24628:Zfp282
|
UTSW |
6 |
47,874,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Zfp282
|
UTSW |
6 |
47,867,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCACAGGGCATTGGTGAG -3'
(R):5'- ATTCCAGGCAAGAGTAGGGC -3'
Sequencing Primer
(F):5'- CATTGGTGAGCGGTTAGGC -3'
(R):5'- GCACCAGCACCGGTACTATTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation