Incidental Mutation 'R0864:Zfp280b'
| ID |
82259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp280b
|
| Ensembl Gene |
ENSMUSG00000049764 |
| Gene Name |
zinc finger protein 280B |
| Synonyms |
Suhw2, D10Jhu82e |
| MMRRC Submission |
039038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R0864 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75868235-75878804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75874139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 6
(T6M)
|
| 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: T6M
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: T6M
| 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 |
unknown
Transcript: ENSMUST00000218627
AA Change: T6M
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 93.8%
|
| Validation Efficiency |
93% (39/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,784,798 (GRCm39) |
|
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,200 (GRCm39) |
Y66C |
probably damaging |
Het |
| Apol7e |
T |
A |
15: 77,601,993 (GRCm39) |
V197E |
probably damaging |
Het |
| Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,756,274 (GRCm39) |
T192I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
G |
A |
2: 104,060,773 (GRCm39) |
P1374S |
possibly damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,808,426 (GRCm39) |
I41V |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
| Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,649,587 (GRCm39) |
V1097A |
probably benign |
Het |
| Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
A |
G |
11: 94,918,759 (GRCm39) |
Y339H |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,283,221 (GRCm39) |
|
probably null |
Het |
| Rbbp4 |
G |
T |
4: 129,214,344 (GRCm39) |
|
probably benign |
Het |
| Rbbp8 |
G |
A |
18: 11,865,241 (GRCm39) |
|
probably benign |
Het |
| Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
| Supt4a |
T |
A |
11: 87,633,913 (GRCm39) |
S88T |
probably benign |
Het |
| Tmem245 |
G |
T |
4: 56,890,837 (GRCm39) |
H321Q |
probably damaging |
Het |
| Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
| Vmn1r36 |
T |
C |
6: 66,693,840 (GRCm39) |
T12A |
probably null |
Het |
| Ywhae |
T |
G |
11: 75,650,256 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
A |
7: 16,154,104 (GRCm39) |
S131T |
probably 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 |
|
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 |
|
R4634:Zfp280b
|
UTSW |
10 |
75,874,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCATCTATCTCAAAGGCTGCTTGGC -3'
(R):5'- TTTTAACCGTGAACCTGGGGTGAC -3'
Sequencing Primer
(F):5'- ACAGCTTGTCGATGCACC -3'
(R):5'- AACCTGGGGTGACTCTGTTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation