Incidental Mutation 'R6954:Zfp280b'
ID 541378
Institutional Source Beutler Lab
Gene Symbol Zfp280b
Ensembl Gene ENSMUSG00000049764
Gene Name zinc finger protein 280B
Synonyms Suhw2, D10Jhu82e
MMRRC Submission 045066-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R6954 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75868235-75878804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75875522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 467 (M467K)
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: M467K

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: M467K

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (57/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik A T 7: 126,429,809 (GRCm39) probably null Het
Alox5 A C 6: 116,397,241 (GRCm39) Y314* probably null Het
Ap4e1 T C 2: 126,906,871 (GRCm39) S1044P probably benign Het
Ash2l A G 8: 26,312,796 (GRCm39) V391A possibly damaging Het
B4galnt4 A G 7: 140,647,145 (GRCm39) T326A probably benign Het
Ccm2 T A 11: 6,544,239 (GRCm39) I345N probably damaging Het
Cntnap3 G A 13: 64,896,373 (GRCm39) H1034Y probably benign Het
Cpsf1 A G 15: 76,483,696 (GRCm39) L849S probably damaging Het
Ctrb1 A G 8: 112,413,296 (GRCm39) S239P probably damaging Het
Dennd1b T A 1: 139,096,683 (GRCm39) probably benign Het
Dnah17 A G 11: 117,957,258 (GRCm39) I2773T probably damaging Het
Eif2b2 T A 12: 85,272,817 (GRCm39) F267L probably damaging Het
Fcrl2 A G 3: 87,170,983 (GRCm39) probably benign Het
Furin G T 7: 80,046,712 (GRCm39) D181E possibly damaging Het
Gm29106 T A 1: 118,128,317 (GRCm39) C670S probably damaging Het
Gm6309 A T 5: 146,105,300 (GRCm39) D204E possibly damaging Het
Hsf2 T A 10: 57,380,739 (GRCm39) I191N probably damaging Het
Hspa12a T C 19: 58,788,124 (GRCm39) D566G probably benign Het
Igf1 G C 10: 87,700,722 (GRCm39) V49L probably damaging Het
Igfbpl1 C T 4: 45,826,663 (GRCm39) C44Y probably damaging Het
Letm1 G A 5: 33,939,851 (GRCm39) R16C probably benign Het
Lypd8l T A 11: 58,499,314 (GRCm39) Y168F probably benign Het
Marf1 A G 16: 13,956,384 (GRCm39) V819A probably damaging Het
Mfsd4b4 A T 10: 39,767,948 (GRCm39) S428T probably benign Het
Myo1d T C 11: 80,565,783 (GRCm39) I347M probably benign Het
Myo9b A G 8: 71,743,463 (GRCm39) I175V probably damaging Het
Naip5 A T 13: 100,359,922 (GRCm39) V438E probably damaging Het
Nup205 T A 6: 35,185,044 (GRCm39) V768E possibly damaging Het
Or4k6 A T 14: 50,475,567 (GRCm39) Y258* probably null Het
Or9g4b T A 2: 85,616,726 (GRCm39) Y290* probably null Het
Pcdh15 C T 10: 74,481,821 (GRCm39) H1651Y possibly damaging Het
Pdgfra A T 5: 75,334,055 (GRCm39) Q376L possibly damaging Het
Pign T C 1: 105,481,622 (GRCm39) I791M probably benign Het
Pik3c2b T G 1: 132,994,041 (GRCm39) S2A possibly damaging Het
Pip5k1a A T 3: 94,975,558 (GRCm39) I304K probably damaging Het
Pkdrej A T 15: 85,702,054 (GRCm39) L1294* probably null Het
Pprc1 T C 19: 46,052,872 (GRCm39) S797P probably damaging Het
Prob1 A G 18: 35,787,321 (GRCm39) V311A probably benign Het
Prune2 C A 19: 16,977,385 (GRCm39) T40K probably damaging Het
Rif1 T G 2: 52,002,703 (GRCm39) D2052E probably benign Het
Sall1 A G 8: 89,759,519 (GRCm39) V195A probably damaging Het
Scfd1 T C 12: 51,474,729 (GRCm39) probably null Het
Sidt2 A T 9: 45,864,148 (GRCm39) N123K probably benign Het
Slc22a6 G A 19: 8,599,460 (GRCm39) A320T probably benign Het
Slc25a10 A G 11: 120,388,973 (GRCm39) H279R probably benign Het
Slc35b4 A G 6: 34,135,556 (GRCm39) V252A probably benign Het
Slc46a3 T C 5: 147,823,150 (GRCm39) T231A probably benign Het
Stxbp1 T A 2: 32,691,905 (GRCm39) H429L probably damaging Het
Tas2r134 C T 2: 51,517,782 (GRCm39) T87I probably benign Het
Tcstv6 A G 13: 120,307,666 (GRCm39) D20G possibly damaging Het
Tdpoz2 A T 3: 93,559,582 (GRCm39) L130H probably damaging Het
Tmem69 T C 4: 116,411,921 (GRCm39) probably null Het
Tmppe G A 9: 114,234,591 (GRCm39) V297I probably benign Het
Ung G T 5: 114,269,398 (GRCm39) A37S probably benign Het
Vdac1 T C 11: 52,277,200 (GRCm39) Y237H probably damaging Het
Vgll4 T C 6: 114,898,328 (GRCm39) Y11C probably damaging Het
Vmn1r24 A G 6: 57,933,437 (GRCm39) I27T probably benign Het
Zkscan4 A G 13: 21,668,535 (GRCm39) I329V probably damaging Het
Other mutations in Zfp280b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTAAGTACAGGTCGTCAGGC -3'
(R):5'- TTCTGTGAAAGTCTGCCTTGAG -3'

Sequencing Primer
(F):5'- TACAGGTCGTCAGGCTTCGC -3'
(R):5'- AAAGTCTGCCTTGAGGTCGG -3'
Posted On 2018-11-28