Incidental Mutation 'IGL01394:Zfp280b'
ID 79333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp280b
Ensembl Gene ENSMUSG00000049764
Gene Name zinc finger protein 280B
Synonyms Suhw2, D10Jhu82e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # IGL01394
Quality Score
Status
Chromosome 10
Chromosomal Location 75868235-75878804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75875497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 459 (Q459K)
Ref Sequence ENSEMBL: ENSMUSP00000056340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061617] [ENSMUST00000218627]
AlphaFold Q505F4
Predicted Effect probably damaging
Transcript: ENSMUST00000061617
AA Change: Q459K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: Q459K

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
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G A 7: 130,747,960 (GRCm39) Q11* probably null Het
Acot5 T C 12: 84,122,262 (GRCm39) I282T probably benign Het
Adcy2 A G 13: 69,130,521 (GRCm39) V122A probably damaging Het
Aldh16a1 A C 7: 44,794,937 (GRCm39) S511A probably benign Het
Arid3b T C 9: 57,702,317 (GRCm39) E480G probably damaging Het
Baz2a T C 10: 127,954,514 (GRCm39) V723A possibly damaging Het
Bmpr1b A G 3: 141,568,742 (GRCm39) probably null Het
Ccdc83 T C 7: 89,873,209 (GRCm39) E382G probably damaging Het
Cfap46 A G 7: 139,246,895 (GRCm39) Y349H probably damaging Het
Clpx T C 9: 65,217,495 (GRCm39) V21A probably damaging Het
Clstn1 A G 4: 149,719,239 (GRCm39) N356S possibly damaging Het
Ctnnd1 A G 2: 84,435,600 (GRCm39) probably benign Het
Dock1 A G 7: 134,367,945 (GRCm39) N505S probably benign Het
Eaf2 G A 16: 36,630,928 (GRCm39) P82S probably damaging Het
Fbxw26 T C 9: 109,547,057 (GRCm39) Y456C probably benign Het
Foxred2 T C 15: 77,839,820 (GRCm39) T157A probably benign Het
Fscb A T 12: 64,520,578 (GRCm39) I296K possibly damaging Het
Gad1-ps A G 10: 99,281,424 (GRCm39) noncoding transcript Het
Golgb1 A G 16: 36,751,926 (GRCm39) E3120G probably damaging Het
Ift140 A G 17: 25,313,676 (GRCm39) D1369G probably benign Het
Kcnk13 T C 12: 100,027,921 (GRCm39) V332A probably benign Het
Lama3 T A 18: 12,664,983 (GRCm39) D661E probably null Het
Lum A T 10: 97,404,834 (GRCm39) D243V probably damaging Het
Mgat4c A G 10: 102,220,975 (GRCm39) T86A possibly damaging Het
Mpdz A T 4: 81,210,728 (GRCm39) V1706D possibly damaging Het
Myrfl T C 10: 116,658,592 (GRCm39) Q455R probably benign Het
Or6k2 T C 1: 173,986,423 (GRCm39) F28S probably damaging Het
Or8c20 T A 9: 38,261,101 (GRCm39) S241T possibly damaging Het
Papolg G A 11: 23,817,235 (GRCm39) T654I probably benign Het
Pappa2 G A 1: 158,592,674 (GRCm39) probably benign Het
Plekhh2 C T 17: 84,864,858 (GRCm39) T82I probably benign Het
Prrc2a A G 17: 35,372,080 (GRCm39) V1773A probably benign Het
Psmb8 G T 17: 34,419,703 (GRCm39) V186L probably damaging Het
Rin3 T C 12: 102,339,862 (GRCm39) V604A probably damaging Het
Rtn1 T C 12: 72,355,190 (GRCm39) D252G probably benign Het
Sdk1 C T 5: 141,598,970 (GRCm39) H212Y probably benign Het
Slc5a5 G T 8: 71,342,032 (GRCm39) Y307* probably null Het
Slc9a9 T A 9: 95,005,090 (GRCm39) L499Q probably benign Het
Snx8 C A 5: 140,337,934 (GRCm39) G237V probably benign Het
Spata18 T A 5: 73,836,688 (GRCm39) probably null Het
Stard9 A G 2: 120,536,808 (GRCm39) E417G possibly damaging Het
Ubr5 T C 15: 38,009,875 (GRCm39) D1034G possibly damaging Het
Upf2 A G 2: 6,045,024 (GRCm39) probably null Het
Xrcc6 A G 15: 81,909,862 (GRCm39) K89R possibly damaging Het
Yeats2 T C 16: 19,980,782 (GRCm39) V237A probably damaging Het
Zdhhc6 A G 19: 55,298,324 (GRCm39) W178R probably benign Het
Zfp811 C A 17: 33,016,794 (GRCm39) K414N probably damaging Het
Other mutations in Zfp280b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-05