Incidental Mutation 'R1054:Zfp282'
| ID |
94178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp282
|
| Ensembl Gene |
ENSMUSG00000025821 |
| Gene Name |
zinc finger protein 282 |
| Synonyms |
HUB1 |
| MMRRC Submission |
039144-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R1054 (G1)
|
| Quality Score |
177 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
47854138-47885419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47881533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 407
(S407T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061890]
|
| AlphaFold |
E9PVC2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061890
AA Change: S407T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000053643
Gene: ENSMUSG00000025821
AA Change: S407T
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,635,759 (GRCm39) |
T159A |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,822,226 (GRCm39) |
Y763C |
probably damaging |
Het |
| Arv1 |
T |
A |
8: 125,458,611 (GRCm39) |
F245Y |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,225,318 (GRCm39) |
I113T |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,279,787 (GRCm39) |
M932K |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,591,076 (GRCm39) |
F442L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,175,534 (GRCm39) |
D105N |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,202,151 (GRCm39) |
I444F |
probably damaging |
Het |
| Dhx32 |
T |
A |
7: 133,327,001 (GRCm39) |
K360M |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,799,602 (GRCm39) |
C669S |
possibly damaging |
Het |
| Dusp8 |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
7: 141,635,804 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
G |
A |
7: 108,537,024 (GRCm39) |
|
probably null |
Het |
| Elmod1 |
T |
C |
9: 53,820,058 (GRCm39) |
D310G |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,625,373 (GRCm39) |
*2272Q |
probably null |
Het |
| Gnat1 |
A |
G |
9: 107,554,638 (GRCm39) |
S76P |
probably damaging |
Het |
| Gtf2f2 |
T |
C |
14: 76,232,885 (GRCm39) |
T94A |
probably benign |
Het |
| Hacd4 |
A |
T |
4: 88,341,264 (GRCm39) |
W152R |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,110,512 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,639,793 (GRCm39) |
I753T |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,156,072 (GRCm39) |
H1162Y |
probably damaging |
Het |
| Med25 |
C |
T |
7: 44,529,804 (GRCm39) |
A485T |
probably benign |
Het |
| Mup5 |
A |
T |
4: 61,750,871 (GRCm39) |
S145R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,987 (GRCm39) |
V105A |
probably damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,492 (GRCm39) |
|
probably null |
Het |
| Or52h1 |
A |
G |
7: 103,829,498 (GRCm39) |
I39T |
probably benign |
Het |
| Or6p1 |
A |
G |
1: 174,258,419 (GRCm39) |
T142A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,664,635 (GRCm39) |
R79G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Pop1 |
T |
C |
15: 34,509,955 (GRCm39) |
V353A |
probably benign |
Het |
| Pou3f2 |
A |
G |
4: 22,487,536 (GRCm39) |
V199A |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,766,361 (GRCm39) |
E15G |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,349,313 (GRCm39) |
N43K |
probably damaging |
Het |
| Qrsl1 |
C |
T |
10: 43,758,077 (GRCm39) |
D339N |
probably damaging |
Het |
| Rpl13-ps3 |
C |
A |
14: 59,131,394 (GRCm39) |
|
noncoding transcript |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sdr16c6 |
A |
G |
4: 4,069,908 (GRCm39) |
V144A |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,865,332 (GRCm39) |
H827N |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,856,432 (GRCm39) |
V690A |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,954,530 (GRCm39) |
H535Q |
probably benign |
Het |
| Timmdc1 |
A |
G |
16: 38,342,790 (GRCm39) |
V36A |
probably benign |
Het |
| Tmem74b |
C |
T |
2: 151,548,339 (GRCm39) |
A22V |
probably benign |
Het |
| Txnrd3 |
T |
A |
6: 89,627,543 (GRCm39) |
Y65* |
probably null |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,624 (GRCm39) |
S133R |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,567,190 (GRCm39) |
C311Y |
probably damaging |
Het |
| Wipf2 |
G |
A |
11: 98,787,141 (GRCm39) |
R390H |
possibly 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 |
|
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 |
|
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'- CCCAAATCACAGGGCATTGGTGAG -3'
(R):5'- TTGCCGCATTCCAGGCAAGAGTAG -3'
Sequencing Primer
(F):5'- GTGAGCGGTTAGGCTCATC -3'
(R):5'- CTACCCGCACCAGTgcc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation