Incidental Mutation 'R4634:Zfp280b'
| ID |
349411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp280b
|
| Ensembl Gene |
ENSMUSG00000049764 |
| Gene Name |
zinc finger protein 280B |
| Synonyms |
Suhw2, D10Jhu82e |
| MMRRC Submission |
042009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R4634 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75868235-75878804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75874663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 181
(C181R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061617]
[ENSMUST00000218627]
|
| AlphaFold |
Q505F4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061617
AA Change: C181R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: C181R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
37 |
N/A |
INTRINSIC |
|
Pfam:DUF4195
|
53 |
227 |
1.3e-38 |
PFAM |
|
ZnF_C2H2
|
297 |
318 |
3.65e1 |
SMART |
|
ZnF_C2H2
|
334 |
357 |
9.46e0 |
SMART |
|
ZnF_C2H2
|
364 |
387 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
394 |
417 |
4.23e0 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
1.72e1 |
SMART |
|
ZnF_C2H2
|
451 |
474 |
2.12e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218627
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,456,278 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,443,033 (GRCm39) |
T77A |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,741,537 (GRCm39) |
M311V |
possibly damaging |
Het |
| Cand2 |
T |
A |
6: 115,774,948 (GRCm39) |
I1052N |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Ceacam16 |
T |
A |
7: 19,592,531 (GRCm39) |
M126L |
probably benign |
Het |
| Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
| Cln8 |
C |
T |
8: 14,944,842 (GRCm39) |
T52I |
probably damaging |
Het |
| Cops2 |
C |
A |
2: 125,682,400 (GRCm39) |
D194Y |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,656,483 (GRCm39) |
V71M |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,058,372 (GRCm39) |
F183S |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,643,832 (GRCm39) |
K375N |
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,185,981 (GRCm39) |
G1596C |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,546 (GRCm39) |
D390V |
possibly damaging |
Het |
| Gm42669 |
A |
T |
5: 107,656,079 (GRCm39) |
I781F |
possibly damaging |
Het |
| Gprin1 |
G |
T |
13: 54,885,871 (GRCm39) |
P801Q |
probably damaging |
Het |
| Hira |
C |
A |
16: 18,765,150 (GRCm39) |
S609R |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,033,292 (GRCm39) |
K1853N |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,437 (GRCm39) |
I4V |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,447 (GRCm39) |
Y211H |
probably damaging |
Het |
| Myd88 |
G |
A |
9: 119,167,175 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,706 (GRCm39) |
N967K |
possibly damaging |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rabepk |
A |
G |
2: 34,670,752 (GRCm39) |
M228T |
probably damaging |
Het |
| Rcn3 |
T |
A |
7: 44,738,092 (GRCm39) |
D92V |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,297 (GRCm39) |
Y250F |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,498,693 (GRCm39) |
T334A |
probably benign |
Het |
| Trip11 |
G |
T |
12: 101,803,875 (GRCm39) |
T1669K |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,570,673 (GRCm39) |
L1091P |
probably damaging |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,660 (GRCm39) |
V85A |
possibly damaging |
Het |
|
| Other mutations in Zfp280b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Zfp280b
|
APN |
10 |
75,875,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02016:Zfp280b
|
APN |
10 |
75,874,945 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02245:Zfp280b
|
APN |
10 |
75,875,197 (GRCm39) |
missense |
probably benign |
|
|
IGL03233:Zfp280b
|
APN |
10 |
75,875,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0864:Zfp280b
|
UTSW |
10 |
75,874,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1501:Zfp280b
|
UTSW |
10 |
75,875,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Zfp280b
|
UTSW |
10 |
75,875,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Zfp280b
|
UTSW |
10 |
75,874,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2024:Zfp280b
|
UTSW |
10 |
75,874,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Zfp280b
|
UTSW |
10 |
75,874,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Zfp280b
|
UTSW |
10 |
75,874,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Zfp280b
|
UTSW |
10 |
75,875,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3729:Zfp280b
|
UTSW |
10 |
75,874,936 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4812:Zfp280b
|
UTSW |
10 |
75,874,924 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4968:Zfp280b
|
UTSW |
10 |
75,875,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Zfp280b
|
UTSW |
10 |
75,875,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Zfp280b
|
UTSW |
10 |
75,875,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5503:Zfp280b
|
UTSW |
10 |
75,875,296 (GRCm39) |
splice site |
probably null |
|
|
R5552:Zfp280b
|
UTSW |
10 |
75,875,497 (GRCm39) |
nonsense |
probably null |
|
|
R6954:Zfp280b
|
UTSW |
10 |
75,875,522 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7299:Zfp280b
|
UTSW |
10 |
75,874,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7301:Zfp280b
|
UTSW |
10 |
75,874,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7485:Zfp280b
|
UTSW |
10 |
75,875,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Zfp280b
|
UTSW |
10 |
75,874,651 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9346:Zfp280b
|
UTSW |
10 |
75,875,126 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATTGAGCCTTTGTCCGAGTC -3'
(R):5'- CTTGAAAAGTCTGCTTCCGC -3'
Sequencing Primer
(F):5'- CCTTTGTCCGAGTCTGATTATAGAAG -3'
(R):5'- AATCCACTGTCCTGACGAGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation