Incidental Mutation 'R8385:Zfp282'
| ID |
647114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp282
|
| Ensembl Gene |
ENSMUSG00000025821 |
| Gene Name |
zinc finger protein 282 |
| Synonyms |
HUB1 |
| MMRRC Submission |
067751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
47854138-47885419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47882023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 570
(Y570F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061890]
|
| AlphaFold |
E9PVC2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061890
AA Change: Y570F
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: Y570F
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brap |
C |
T |
5: 121,823,197 (GRCm39) |
T473I |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,319,687 (GRCm39) |
M1400L |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,240,621 (GRCm39) |
I127T |
possibly damaging |
Het |
| Dbt |
A |
T |
3: 116,317,039 (GRCm39) |
I72F |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,041 (GRCm39) |
H592R |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,620,891 (GRCm39) |
M541K |
probably damaging |
Het |
| Dnai7 |
C |
T |
6: 145,120,918 (GRCm39) |
E685K |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,878,090 (GRCm39) |
D327G |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,940,037 (GRCm39) |
S390G |
possibly damaging |
Het |
| Fbxo22 |
A |
G |
9: 55,121,233 (GRCm39) |
D106G |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,301,519 (GRCm39) |
T441A |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,780,347 (GRCm39) |
I192V |
probably damaging |
Het |
| Gosr1 |
T |
A |
11: 76,620,967 (GRCm39) |
T241S |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,706,527 (GRCm39) |
S792G |
probably benign |
Het |
| Itsn1 |
A |
C |
16: 91,690,699 (GRCm39) |
K1302Q |
unknown |
Het |
| Kif16b |
T |
C |
2: 142,554,258 (GRCm39) |
K847E |
probably benign |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Mark3 |
A |
G |
12: 111,621,808 (GRCm39) |
D650G |
possibly damaging |
Het |
| Mgat4f |
A |
G |
1: 134,318,376 (GRCm39) |
K383E |
probably benign |
Het |
| Mob3b |
T |
C |
4: 34,985,980 (GRCm39) |
Y186C |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,450,785 (GRCm39) |
K329E |
probably benign |
Het |
| Mta1 |
A |
T |
12: 113,095,085 (GRCm39) |
M448L |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,941,384 (GRCm39) |
N161K |
probably damaging |
Het |
| Myo10 |
T |
A |
15: 25,804,484 (GRCm39) |
I1593N |
probably damaging |
Het |
| Naca |
A |
G |
10: 127,878,307 (GRCm39) |
N1113S |
unknown |
Het |
| Or2w4 |
T |
C |
13: 21,795,522 (GRCm39) |
I206V |
probably benign |
Het |
| Or5e1 |
T |
G |
7: 108,354,511 (GRCm39) |
Y149* |
probably null |
Het |
| Pcdhga1 |
A |
T |
18: 37,795,149 (GRCm39) |
D51V |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,711,082 (GRCm39) |
E1380G |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,702 (GRCm39) |
V2130M |
possibly damaging |
Het |
| Pla2g4c |
C |
T |
7: 13,063,589 (GRCm39) |
P19S |
probably benign |
Het |
| Popdc2 |
G |
A |
16: 38,183,262 (GRCm39) |
V82I |
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,894 (GRCm39) |
R203G |
probably benign |
Het |
| Rab19 |
T |
A |
6: 39,360,892 (GRCm39) |
N13K |
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,246,817 (GRCm39) |
D48E |
probably benign |
Het |
| Rell1 |
T |
A |
5: 64,087,861 (GRCm39) |
K136* |
probably null |
Het |
| Slc38a4 |
A |
G |
15: 96,897,393 (GRCm39) |
I474T |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,254,109 (GRCm39) |
M243V |
probably benign |
Het |
| Spata31f1a |
C |
T |
4: 42,850,509 (GRCm39) |
R549H |
possibly damaging |
Het |
| Speer4c2 |
A |
T |
5: 15,857,669 (GRCm39) |
S203T |
unknown |
Het |
| Spg11 |
A |
T |
2: 121,927,802 (GRCm39) |
S661T |
probably benign |
Het |
| Thra |
C |
G |
11: 98,659,177 (GRCm39) |
S435R |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,339,274 (GRCm39) |
I61T |
probably benign |
Het |
| Ttpa |
G |
A |
4: 20,028,483 (GRCm39) |
G247S |
probably damaging |
Het |
| Usp17lb |
C |
T |
7: 104,489,830 (GRCm39) |
V366I |
possibly damaging |
Het |
| Vit |
A |
T |
17: 78,927,066 (GRCm39) |
Q337L |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,088 (GRCm39) |
Y551C |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,181,791 (GRCm39) |
L539P |
probably damaging |
Het |
| Ythdc1 |
C |
A |
5: 86,975,961 (GRCm39) |
P529T |
possibly damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,455,444 (GRCm39) |
|
probably null |
Het |
| Zfp872 |
A |
T |
9: 22,111,407 (GRCm39) |
K295N |
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 |
|
|
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'- CCCTACTCTTGCCTGGAATG -3'
(R):5'- AACCCTAGTCTCTTTCTGGTGG -3'
Sequencing Primer
(F):5'- TGGAATGCGGCAAGACCTTC -3'
(R):5'- AGTGACTCCTTGTAGCGGAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation