Incidental Mutation 'R4478:Zfp282'
| ID |
331352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp282
|
| Ensembl Gene |
ENSMUSG00000025821 |
| Gene Name |
zinc finger protein 282 |
| Synonyms |
HUB1 |
| MMRRC Submission |
041735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
47854138-47885419 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 47867630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 269
(R269*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061890]
|
| AlphaFold |
E9PVC2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061890
AA Change: R269*
|
| SMART Domains |
Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: R269*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125957
|
| Meta Mutation Damage Score |
0.9712 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
94% (46/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,185,171 (GRCm39) |
D509G |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,610,594 (GRCm39) |
T1379I |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,209,509 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,760,659 (GRCm39) |
|
probably benign |
Het |
| Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
| Cpne5 |
T |
C |
17: 29,428,450 (GRCm39) |
T118A |
probably damaging |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dag1 |
G |
C |
9: 108,085,929 (GRCm39) |
T404R |
probably damaging |
Het |
| Dnah3 |
T |
G |
7: 119,671,086 (GRCm39) |
H599P |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fabp9 |
T |
C |
3: 10,262,166 (GRCm39) |
Y30C |
probably damaging |
Het |
| Fnbp1 |
G |
A |
2: 30,995,266 (GRCm39) |
A56V |
probably damaging |
Het |
| Hid1 |
G |
A |
11: 115,252,481 (GRCm39) |
A67V |
probably damaging |
Het |
| Il6ra |
T |
A |
3: 89,797,597 (GRCm39) |
Y90F |
probably damaging |
Het |
| Kcnk18 |
T |
C |
19: 59,223,676 (GRCm39) |
S274P |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,500,600 (GRCm39) |
D655V |
probably damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,607,391 (GRCm39) |
A585T |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Myo9b |
A |
T |
8: 71,743,725 (GRCm39) |
K262M |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10aa1 |
C |
T |
1: 173,870,182 (GRCm39) |
T222I |
probably benign |
Het |
| Or6c6b |
C |
T |
10: 129,147,645 (GRCm39) |
L90F |
possibly damaging |
Het |
| Or8h10 |
G |
T |
2: 86,808,562 (GRCm39) |
R193S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,173,068 (GRCm39) |
C1288S |
possibly damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,809,380 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,235,057 (GRCm39) |
E619K |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,812,761 (GRCm39) |
R311L |
probably damaging |
Het |
| S2bpcox16 |
T |
C |
12: 81,535,990 (GRCm39) |
|
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,424,990 (GRCm39) |
L407* |
probably null |
Het |
| Snap29 |
T |
C |
16: 17,246,019 (GRCm39) |
V213A |
probably benign |
Het |
| Spef1l |
A |
T |
7: 139,555,773 (GRCm39) |
|
probably null |
Het |
| Stard7 |
T |
A |
2: 127,126,179 (GRCm39) |
L77Q |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,678,110 (GRCm39) |
Y668H |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,364,696 (GRCm39) |
I266T |
probably damaging |
Het |
| Tmem87a |
C |
T |
2: 120,199,824 (GRCm39) |
W440* |
probably null |
Het |
| Tnr |
T |
A |
1: 159,712,326 (GRCm39) |
|
probably null |
Het |
| Ubl3 |
C |
T |
5: 148,448,787 (GRCm39) |
S18N |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,143 (GRCm39) |
E502G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,106,241 (GRCm39) |
D61E |
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp1 |
A |
G |
8: 112,397,175 (GRCm39) |
R366G |
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 |
|
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 |
|
R8543:Zfp282
|
UTSW |
6 |
47,881,561 (GRCm39) |
missense |
probably benign |
0.40 |
|
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'- ATAATGGCTGCCATGCTGTG -3'
(R):5'- GCATGTTCTGTAAGTGACCACAC -3'
Sequencing Primer
(F):5'- ACATTGGTAACTGAGAGCCCTGC -3'
(R):5'- ACAACAGCTGTGGTATAAGTGGTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation