Incidental Mutation 'R8354:Setbp1'
ID 660637
Institutional Source Beutler Lab
Gene Symbol Setbp1
Ensembl Gene ENSMUSG00000024548
Gene Name SET binding protein 1
Synonyms Seb
MMRRC Submission 067806-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.625) question?
Stock # R8354 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 78793595-79152606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78900598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1023 (V1023E)
Ref Sequence ENSEMBL: ENSMUSP00000025430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025430]
AlphaFold Q9Z180
Predicted Effect probably damaging
Transcript: ENSMUST00000025430
AA Change: V1023E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: V1023E

DomainStartEndE-ValueType
low complexity region 155 165 N/A INTRINSIC
low complexity region 221 251 N/A INTRINSIC
low complexity region 278 286 N/A INTRINSIC
AT_hook 528 540 4.64e-1 SMART
low complexity region 565 571 N/A INTRINSIC
low complexity region 594 617 N/A INTRINSIC
low complexity region 878 887 N/A INTRINSIC
AT_hook 960 972 1.89e-1 SMART
low complexity region 1086 1103 N/A INTRINSIC
low complexity region 1316 1337 N/A INTRINSIC
AT_hook 1393 1405 7.27e-1 SMART
low complexity region 1462 1486 N/A INTRINSIC
low complexity region 1498 1514 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,676,297 (GRCm39) S353R probably damaging Het
Ap1ar T C 3: 127,606,428 (GRCm39) probably null Het
Asxl1 C A 2: 153,235,345 (GRCm39) N213K probably benign Het
Cacna1e A G 1: 154,274,314 (GRCm39) V2197A probably damaging Het
Cacna2d2 G A 9: 107,401,334 (GRCm39) E706K possibly damaging Het
Cfap46 C T 7: 139,233,414 (GRCm39) V296I probably benign Het
Cldn5 A G 16: 18,596,043 (GRCm39) T100A probably benign Het
Ctnna1 C A 18: 35,385,776 (GRCm39) N802K possibly damaging Het
Dennd2b G A 7: 109,124,755 (GRCm39) R675* probably null Het
Dip2c A G 13: 9,671,918 (GRCm39) T968A probably benign Het
Dnaaf5 ACCCAGCACCTGGAGATCGTCC ACC 5: 139,147,614 (GRCm39) probably null Het
Dnah8 A T 17: 30,862,234 (GRCm39) D203V probably benign Het
Dnajc13 A G 9: 104,094,927 (GRCm39) M585T probably damaging Het
Donson G T 16: 91,480,685 (GRCm39) T262K possibly damaging Het
E2f3 T A 13: 30,169,787 (GRCm39) probably benign Het
Fam110c A G 12: 31,125,178 (GRCm39) E380G possibly damaging Het
Gbp9 T G 5: 105,242,027 (GRCm39) T177P probably damaging Het
Gins3 C T 8: 96,364,646 (GRCm39) A132V probably benign Het
Glra3 T A 8: 56,578,345 (GRCm39) Y467* probably null Het
Gm7138 A G 10: 77,612,444 (GRCm39) probably benign Het
Golim4 T C 3: 75,802,308 (GRCm39) E328G probably damaging Het
Habp2 T A 19: 56,301,388 (GRCm39) C270* probably null Het
Hecw2 A G 1: 53,964,467 (GRCm39) probably null Het
Hmcn1 A T 1: 150,634,142 (GRCm39) Y815N possibly damaging Het
Igfn1 A T 1: 135,887,619 (GRCm39) C2482S possibly damaging Het
Igkv4-71 A G 6: 69,220,260 (GRCm39) V57A probably damaging Het
Itpkb G A 1: 180,160,908 (GRCm39) E345K possibly damaging Het
Itpr3 G A 17: 27,334,893 (GRCm39) V2136M possibly damaging Het
Kcnh3 A G 15: 99,127,211 (GRCm39) T336A probably damaging Het
Kdm4d T C 9: 14,375,235 (GRCm39) T208A possibly damaging Het
Kntc1 T C 5: 123,916,330 (GRCm39) F721S probably damaging Het
Krt10 A G 11: 99,280,086 (GRCm39) probably benign Het
Lgals3bp T A 11: 118,289,367 (GRCm39) N28I probably damaging Het
Matn2 T C 15: 34,378,843 (GRCm39) L293P probably damaging Het
Mical3 T C 6: 120,950,381 (GRCm39) E1010G probably damaging Het
Mpp4 C A 1: 59,169,224 (GRCm39) R380L probably damaging Het
Msh5 A G 17: 35,250,742 (GRCm39) F469L possibly damaging Het
Ncam2 A G 16: 81,309,847 (GRCm39) T446A probably benign Het
Neurl4 A G 11: 69,800,062 (GRCm39) D1050G probably damaging Het
Olfml2b T C 1: 170,509,793 (GRCm39) Y714H possibly damaging Het
Or5d43 T C 2: 88,105,036 (GRCm39) D119G probably damaging Het
Or8c17 T C 9: 38,180,513 (GRCm39) S235P probably benign Het
Pcnx2 T C 8: 126,488,357 (GRCm39) E1729G probably damaging Het
Peg10 GCACATCAGGATCC GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC 6: 4,756,452 (GRCm39) probably benign Het
Pex1 T A 5: 3,681,707 (GRCm39) L1051Q probably damaging Het
Prkag2 T A 5: 25,074,137 (GRCm39) R283* probably null Het
Prrc1 T A 18: 57,504,503 (GRCm39) M238K probably damaging Het
Ptprj T C 2: 90,300,061 (GRCm39) T247A probably benign Het
Ptprz1 A G 6: 22,999,614 (GRCm39) Y568C probably damaging Het
Rab36 G A 10: 74,884,291 (GRCm39) A114T probably damaging Het
Rfx7 T C 9: 72,526,731 (GRCm39) V1307A probably benign Het
Scaf1 A C 7: 44,657,251 (GRCm39) probably benign Het
Sema4g A T 19: 44,986,866 (GRCm39) T440S probably benign Het
Slc46a2 T C 4: 59,913,931 (GRCm39) I331V possibly damaging Het
Slc4a7 C T 14: 14,786,313 (GRCm38) R1000C probably damaging Het
Sorcs2 T C 5: 36,222,753 (GRCm39) H162R probably benign Het
Spata31f1e T A 4: 42,793,223 (GRCm39) H303L probably benign Het
Strip2 G A 6: 29,920,531 (GRCm39) probably null Het
Stx2 T A 5: 129,071,932 (GRCm39) I42L probably benign Het
Tas2r124 A T 6: 132,732,410 (GRCm39) T240S probably benign Het
Tgfbrap1 A T 1: 43,115,070 (GRCm39) V10D probably damaging Het
Tmem41a T A 16: 21,766,181 (GRCm39) Y19F probably benign Het
Tmprss5 A G 9: 49,018,439 (GRCm39) T74A possibly damaging Het
Trim16 G T 11: 62,727,587 (GRCm39) R216L probably benign Het
Trmt10c T C 16: 55,854,870 (GRCm39) K255R probably benign Het
Trpm2 A T 10: 77,769,483 (GRCm39) V747E probably damaging Het
Ube2v2 T C 16: 15,399,005 (GRCm39) D28G possibly damaging Het
Uty G A Y: 1,157,928 (GRCm39) T705I possibly damaging Het
Vmn2r80 A T 10: 78,984,710 (GRCm39) I21F probably benign Het
Wdr11 T C 7: 129,204,723 (GRCm39) L176S probably damaging Het
Zfp992 A G 4: 146,551,319 (GRCm39) T347A probably benign Het
Other mutations in Setbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Setbp1 APN 18 78,798,894 (GRCm39) nonsense probably null 0.00
IGL00668:Setbp1 APN 18 78,900,985 (GRCm39) missense probably damaging 1.00
IGL01628:Setbp1 APN 18 78,899,992 (GRCm39) missense probably damaging 1.00
IGL02084:Setbp1 APN 18 78,900,625 (GRCm39) missense probably damaging 1.00
IGL02405:Setbp1 APN 18 78,900,514 (GRCm39) missense probably damaging 1.00
IGL02427:Setbp1 APN 18 78,900,688 (GRCm39) missense probably damaging 1.00
IGL02612:Setbp1 APN 18 78,798,925 (GRCm39) missense probably damaging 1.00
IGL02725:Setbp1 APN 18 78,900,589 (GRCm39) nonsense probably null
IGL03005:Setbp1 APN 18 78,902,340 (GRCm39) missense possibly damaging 0.75
IGL03123:Setbp1 APN 18 78,900,224 (GRCm39) missense probably damaging 1.00
R1083:Setbp1 UTSW 18 78,900,841 (GRCm39) missense probably damaging 1.00
R1110:Setbp1 UTSW 18 78,901,075 (GRCm39) missense probably damaging 1.00
R1167:Setbp1 UTSW 18 78,900,451 (GRCm39) missense possibly damaging 0.85
R1221:Setbp1 UTSW 18 78,899,798 (GRCm39) missense probably damaging 1.00
R1225:Setbp1 UTSW 18 78,901,423 (GRCm39) missense probably damaging 0.99
R1327:Setbp1 UTSW 18 78,826,573 (GRCm39) missense probably benign 0.00
R1481:Setbp1 UTSW 18 78,826,516 (GRCm39) missense probably benign 0.01
R1482:Setbp1 UTSW 18 79,130,050 (GRCm39) missense probably damaging 1.00
R1496:Setbp1 UTSW 18 78,903,127 (GRCm39) missense probably damaging 1.00
R1550:Setbp1 UTSW 18 78,901,807 (GRCm39) missense probably damaging 1.00
R1708:Setbp1 UTSW 18 78,901,682 (GRCm39) missense probably damaging 0.99
R1751:Setbp1 UTSW 18 78,900,613 (GRCm39) missense probably damaging 1.00
R1922:Setbp1 UTSW 18 78,901,577 (GRCm39) missense possibly damaging 0.75
R1986:Setbp1 UTSW 18 78,901,759 (GRCm39) missense probably damaging 0.99
R2090:Setbp1 UTSW 18 78,899,935 (GRCm39) missense probably benign 0.00
R2851:Setbp1 UTSW 18 78,967,211 (GRCm39) missense probably benign 0.11
R2853:Setbp1 UTSW 18 78,967,211 (GRCm39) missense probably benign 0.11
R2941:Setbp1 UTSW 18 78,901,412 (GRCm39) missense probably damaging 1.00
R3151:Setbp1 UTSW 18 78,900,650 (GRCm39) missense probably damaging 1.00
R3156:Setbp1 UTSW 18 78,902,518 (GRCm39) missense probably benign 0.00
R3807:Setbp1 UTSW 18 78,826,537 (GRCm39) missense probably benign 0.01
R4133:Setbp1 UTSW 18 78,900,206 (GRCm39) missense probably benign 0.05
R4287:Setbp1 UTSW 18 78,902,276 (GRCm39) missense probably benign 0.03
R4345:Setbp1 UTSW 18 79,129,794 (GRCm39) missense probably damaging 0.99
R4374:Setbp1 UTSW 18 78,903,137 (GRCm39) missense probably damaging 0.97
R4377:Setbp1 UTSW 18 78,903,137 (GRCm39) missense probably damaging 0.97
R4378:Setbp1 UTSW 18 78,899,833 (GRCm39) missense possibly damaging 0.95
R4379:Setbp1 UTSW 18 79,129,896 (GRCm39) missense probably damaging 1.00
R4585:Setbp1 UTSW 18 79,130,164 (GRCm39) missense probably benign 0.00
R4595:Setbp1 UTSW 18 78,900,731 (GRCm39) missense probably benign 0.00
R4817:Setbp1 UTSW 18 78,902,015 (GRCm39) missense probably damaging 1.00
R4971:Setbp1 UTSW 18 78,901,382 (GRCm39) missense probably benign 0.07
R4976:Setbp1 UTSW 18 79,129,927 (GRCm39) missense probably damaging 1.00
R5017:Setbp1 UTSW 18 78,899,809 (GRCm39) missense possibly damaging 0.81
R5066:Setbp1 UTSW 18 78,900,514 (GRCm39) missense probably damaging 1.00
R5133:Setbp1 UTSW 18 78,900,697 (GRCm39) missense probably damaging 1.00
R5151:Setbp1 UTSW 18 78,901,214 (GRCm39) missense probably damaging 1.00
R5237:Setbp1 UTSW 18 78,900,190 (GRCm39) missense possibly damaging 0.92
R5480:Setbp1 UTSW 18 78,901,278 (GRCm39) missense probably damaging 0.99
R5507:Setbp1 UTSW 18 79,129,927 (GRCm39) missense probably damaging 1.00
R5529:Setbp1 UTSW 18 79,129,867 (GRCm39) missense probably damaging 0.99
R5622:Setbp1 UTSW 18 78,900,700 (GRCm39) missense probably damaging 1.00
R5722:Setbp1 UTSW 18 78,899,860 (GRCm39) missense possibly damaging 0.95
R5806:Setbp1 UTSW 18 78,899,697 (GRCm39) splice site probably null
R5940:Setbp1 UTSW 18 78,798,703 (GRCm39) missense probably damaging 1.00
R6025:Setbp1 UTSW 18 78,902,455 (GRCm39) missense probably damaging 0.98
R6030:Setbp1 UTSW 18 78,900,926 (GRCm39) missense probably benign 0.02
R6030:Setbp1 UTSW 18 78,900,926 (GRCm39) missense probably benign 0.02
R6250:Setbp1 UTSW 18 78,901,217 (GRCm39) missense probably benign 0.00
R6256:Setbp1 UTSW 18 78,900,472 (GRCm39) missense probably damaging 1.00
R6332:Setbp1 UTSW 18 78,826,584 (GRCm39) missense probably benign 0.21
R6522:Setbp1 UTSW 18 78,900,605 (GRCm39) missense probably damaging 0.98
R6873:Setbp1 UTSW 18 78,902,774 (GRCm39) missense probably benign 0.00
R6886:Setbp1 UTSW 18 78,900,715 (GRCm39) missense probably damaging 1.00
R6986:Setbp1 UTSW 18 78,901,054 (GRCm39) missense probably damaging 1.00
R7042:Setbp1 UTSW 18 79,130,070 (GRCm39) missense probably damaging 1.00
R7131:Setbp1 UTSW 18 79,130,175 (GRCm39) missense probably benign 0.08
R7134:Setbp1 UTSW 18 78,902,734 (GRCm39) missense possibly damaging 0.86
R7215:Setbp1 UTSW 18 78,900,052 (GRCm39) missense probably damaging 0.97
R7219:Setbp1 UTSW 18 78,798,960 (GRCm39) missense probably damaging 1.00
R7378:Setbp1 UTSW 18 78,900,701 (GRCm39) missense probably damaging 1.00
R7461:Setbp1 UTSW 18 78,899,707 (GRCm39) missense probably benign 0.06
R7589:Setbp1 UTSW 18 78,899,707 (GRCm39) missense probably benign 0.01
R7840:Setbp1 UTSW 18 78,826,639 (GRCm39) missense probably benign 0.03
R7849:Setbp1 UTSW 18 78,900,068 (GRCm39) missense probably benign 0.00
R8147:Setbp1 UTSW 18 78,900,015 (GRCm39) missense probably damaging 1.00
R8446:Setbp1 UTSW 18 78,900,971 (GRCm39) missense probably damaging 1.00
R8524:Setbp1 UTSW 18 78,901,969 (GRCm39) missense probably damaging 1.00
R8534:Setbp1 UTSW 18 78,826,542 (GRCm39) missense possibly damaging 0.86
R8694:Setbp1 UTSW 18 78,901,516 (GRCm39) missense probably damaging 1.00
R8931:Setbp1 UTSW 18 78,899,723 (GRCm39) missense probably benign 0.00
R8983:Setbp1 UTSW 18 78,902,459 (GRCm39) missense probably benign 0.37
R9062:Setbp1 UTSW 18 78,900,266 (GRCm39) missense probably benign 0.01
R9113:Setbp1 UTSW 18 78,900,948 (GRCm39) missense probably damaging 0.99
R9364:Setbp1 UTSW 18 78,826,599 (GRCm39) missense probably benign 0.00
R9513:Setbp1 UTSW 18 78,899,781 (GRCm39) missense probably damaging 1.00
R9517:Setbp1 UTSW 18 78,901,322 (GRCm39) missense probably damaging 0.99
R9549:Setbp1 UTSW 18 78,902,629 (GRCm39) missense probably benign 0.07
R9554:Setbp1 UTSW 18 78,826,599 (GRCm39) missense probably benign 0.00
R9680:Setbp1 UTSW 18 78,902,498 (GRCm39) missense probably benign
R9711:Setbp1 UTSW 18 78,900,142 (GRCm39) missense probably benign 0.30
Z1088:Setbp1 UTSW 18 78,902,809 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACTGTCGGCCTCATGAAAG -3'
(R):5'- GCTGGAAGAACTCATCACCAAG -3'

Sequencing Primer
(F):5'- CTCATGAAAGGGGATGCTGCTC -3'
(R):5'- CGGGGCTACACTTTCTACCATGAG -3'
Posted On 2021-01-18