Incidental Mutation 'R5007:Zfp280b'
ID 390224
Institutional Source Beutler Lab
Gene Symbol Zfp280b
Ensembl Gene ENSMUSG00000049764
Gene Name zinc finger protein 280B
Synonyms Suhw2, D10Jhu82e
MMRRC Submission 042598-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R5007 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 75868235-75878804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75875048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 309 (V309D)
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: V309D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056340
Gene: ENSMUSG00000049764
AA Change: V309D

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
Meta Mutation Damage Score 0.3005 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.6%
Validation Efficiency 99% (89/90)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
Abca8b T C 11: 109,827,590 (GRCm39) T1473A probably damaging Het
Adam22 T C 5: 8,217,393 (GRCm39) Y134C probably damaging Het
Alg9 T A 9: 50,699,524 (GRCm39) M183K probably damaging Het
Ambra1 T C 2: 91,602,655 (GRCm39) I213T possibly damaging Het
Ankrd55 T A 13: 112,504,466 (GRCm39) V376D probably benign Het
Ano4 A C 10: 88,948,807 (GRCm39) V166G probably benign Het
Aox3 T A 1: 58,202,583 (GRCm39) C730S probably benign Het
Apc T A 18: 34,446,016 (GRCm39) Y953N probably damaging Het
Ass1 T C 2: 31,391,544 (GRCm39) F273S possibly damaging Het
Atg2b T C 12: 105,610,135 (GRCm39) probably null Het
B3gnt9 A G 8: 105,981,122 (GRCm39) Y89H probably damaging Het
Cd38 T G 5: 44,063,506 (GRCm39) F200V probably damaging Het
Cep170 G T 1: 176,597,380 (GRCm39) R388S probably benign Het
Col22a1 A T 15: 71,816,271 (GRCm39) D614E probably damaging Het
Crybg3 C A 16: 59,378,463 (GRCm39) probably benign Het
Ctdp1 A T 18: 80,463,695 (GRCm39) S114T probably damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dmtf1 T C 5: 9,172,439 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,362,283 (GRCm39) V3715M probably damaging Het
Dok1 A T 6: 83,009,297 (GRCm39) L185H probably damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Eif2ak1 G T 5: 143,810,698 (GRCm39) R136L probably benign Het
Eml5 A T 12: 98,797,224 (GRCm39) S1063T probably damaging Het
Fam171b T A 2: 83,685,853 (GRCm39) L179* probably null Het
Flot1 G T 17: 36,135,267 (GRCm39) probably benign Het
Fmn2 A T 1: 174,571,866 (GRCm39) H1491L probably damaging Het
Frem1 C T 4: 82,859,049 (GRCm39) probably benign Het
Gdf2 A G 14: 33,666,863 (GRCm39) D195G probably benign Het
Golga4 T G 9: 118,387,368 (GRCm39) C1497G probably benign Het
Gpaa1 T A 15: 76,215,868 (GRCm39) C33* probably null Het
Hectd1 A T 12: 51,849,443 (GRCm39) C254S possibly damaging Het
Hspa1b C T 17: 35,177,086 (GRCm39) A300T probably benign Het
Igf2bp2 A G 16: 21,898,246 (GRCm39) I233T probably damaging Het
Iqce C A 5: 140,661,003 (GRCm39) A491S possibly damaging Het
Irak3 A G 10: 119,982,334 (GRCm39) probably null Het
Kcnip1 T A 11: 33,592,495 (GRCm39) H124L probably benign Het
Klhdc10 G A 6: 30,450,640 (GRCm39) R393Q probably benign Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Map2 T C 1: 66,452,448 (GRCm39) V288A possibly damaging Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Meltf A G 16: 31,706,380 (GRCm39) D288G possibly damaging Het
Mgat4e T A 1: 134,468,890 (GRCm39) I385F probably benign Het
Mical3 A C 6: 121,015,030 (GRCm39) V211G probably damaging Het
Mlh1 A G 9: 111,100,478 (GRCm39) *39R probably null Het
Mre11a A G 9: 14,721,116 (GRCm39) D345G probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Nat1 T G 8: 67,944,077 (GRCm39) L154R probably benign Het
Nlrp4a A G 7: 26,161,905 (GRCm39) D851G probably damaging Het
Npas4 A C 19: 5,039,684 (GRCm39) V54G possibly damaging Het
Or13n4 T C 7: 106,423,364 (GRCm39) Y123C probably damaging Het
Pcbp4 G A 9: 106,339,292 (GRCm39) G100R probably damaging Het
Pcdh17 A G 14: 84,770,737 (GRCm39) T1072A probably benign Het
Pcdh18 T C 3: 49,708,906 (GRCm39) N803S probably benign Het
Ppat C T 5: 77,076,525 (GRCm39) probably benign Het
Ppm1l T A 3: 69,224,931 (GRCm39) L11Q probably damaging Het
Pram1 T A 17: 33,864,411 (GRCm39) V658E probably damaging Het
Prr12 C T 7: 44,699,225 (GRCm39) probably benign Het
Prxl2b A G 4: 154,981,531 (GRCm39) probably null Het
Ptprq A G 10: 107,444,137 (GRCm39) V1489A probably benign Het
Ryr1 T A 7: 28,768,540 (GRCm39) I2817F probably damaging Het
Sall2 A G 14: 52,551,950 (GRCm39) L413P probably damaging Het
Slc7a9 T A 7: 35,153,554 (GRCm39) M185K probably benign Het
Stag2 C T X: 41,355,130 (GRCm39) H1149Y possibly damaging Het
Timm10b T A 7: 105,290,298 (GRCm39) Y64N probably damaging Het
Tmem30c T C 16: 57,086,868 (GRCm39) T312A probably benign Het
Tmem9b G T 7: 109,344,550 (GRCm39) C17* probably null Het
Vmn2r68 C A 7: 84,881,622 (GRCm39) R486L probably benign Het
Xkr9 T A 1: 13,771,387 (GRCm39) I301N probably damaging Het
Xpo7 T C 14: 70,925,704 (GRCm39) Q446R probably damaging Het
Ythdf3 T C 3: 16,259,362 (GRCm39) V503A possibly damaging Het
Zfp53 T A 17: 21,729,772 (GRCm39) C602S probably benign Het
Zfp616 A T 11: 73,974,643 (GRCm39) N395I possibly damaging Het
Zfp644 T C 5: 106,783,867 (GRCm39) I862M probably benign Het
Zfp715 T C 7: 42,949,019 (GRCm39) T314A possibly 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
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'- CTCGTCAGGACAGTGGATTG -3'
(R):5'- TGTAAAAGGACTTGGTCGGTCTC -3'

Sequencing Primer
(F):5'- ACAGTGGATTGGCGGAAG -3'
(R):5'- TTGGTCGGTCTCAAAGGACAACTC -3'
Posted On 2016-06-06