Incidental Mutation 'R9517:Setbp1'
ID 718685
Institutional Source Beutler Lab
Gene Symbol Setbp1
Ensembl Gene ENSMUSG00000024548
Gene Name SET binding protein 1
Synonyms Seb
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R9517 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 78793595-79152606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78901322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 782 (S782G)
Ref Sequence ENSEMBL: ENSMUSP00000025430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025430]
AlphaFold Q9Z180
Predicted Effect probably damaging
Transcript: ENSMUST00000025430
AA Change: S782G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: S782G

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,113,528 (GRCm39) V264E probably damaging Het
Abca15 A G 7: 119,987,424 (GRCm39) I1237V probably benign Het
Actn2 G T 13: 12,295,317 (GRCm39) Q552K probably damaging Het
Adnp A T 2: 168,024,866 (GRCm39) C810S possibly damaging Het
Aip A T 19: 4,168,217 (GRCm39) I50K possibly damaging Het
Arsk A G 13: 76,210,638 (GRCm39) S470P probably damaging Het
Aspm T A 1: 139,407,167 (GRCm39) I2018K probably damaging Het
Aspn G A 13: 49,705,275 (GRCm39) D46N Het
C6 G T 15: 4,827,914 (GRCm39) C761F probably damaging Het
Cdk12 A T 11: 98,109,910 (GRCm39) T644S unknown Het
Cela3a T A 4: 137,131,825 (GRCm39) I123F probably damaging Het
Chchd3 A T 6: 33,026,317 (GRCm39) S42T probably benign Het
Chst5 A G 8: 112,616,652 (GRCm39) S323P possibly damaging Het
Clec4g C A 8: 3,767,452 (GRCm39) A198S probably damaging Het
Dcbld2 T G 16: 58,253,819 (GRCm39) D185E probably benign Het
Dnah17 A G 11: 117,915,440 (GRCm39) V4393A possibly damaging Het
Dock9 T C 14: 121,829,236 (GRCm39) T1392A probably benign Het
Ell2 A G 13: 75,912,106 (GRCm39) K464R possibly damaging Het
Eme2 G A 17: 25,114,033 (GRCm39) probably benign Het
Eps8l1 T A 7: 4,480,636 (GRCm39) I530N probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbxw25 A G 9: 109,480,892 (GRCm39) Y263H Het
Frem1 T C 4: 82,901,714 (GRCm39) Y938C probably damaging Het
Gdf10 A G 14: 33,654,522 (GRCm39) D343G probably benign Het
Gm3415 C T 5: 146,493,406 (GRCm39) R84C possibly damaging Het
Hap1 A T 11: 100,240,188 (GRCm39) V536D possibly damaging Het
Icos T C 1: 61,032,894 (GRCm39) F31S probably damaging Het
Inpp5d T A 1: 87,638,853 (GRCm39) S812T probably benign Het
Kcng4 A G 8: 120,353,070 (GRCm39) V280A probably benign Het
Ldlr T C 9: 21,655,240 (GRCm39) V623A possibly damaging Het
Lipc T C 9: 70,709,560 (GRCm39) T396A probably benign Het
Lrit2 T A 14: 36,794,272 (GRCm39) C445* probably null Het
Lrrc37 G A 11: 103,433,416 (GRCm39) T3251I unknown Het
Mcc C A 18: 44,794,794 (GRCm39) G10C probably damaging Het
Mtfr1l T C 4: 134,256,515 (GRCm39) T217A probably benign Het
Mtrr A T 13: 68,728,730 (GRCm39) S23R probably benign Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myo7a A T 7: 97,721,166 (GRCm39) D1255E probably damaging Het
Nfatc1 T C 18: 80,725,406 (GRCm39) K453E probably damaging Het
Nrap A T 19: 56,360,277 (GRCm39) M466K probably benign Het
Or10j3 C A 1: 173,031,346 (GRCm39) A141D possibly damaging Het
Or11g26 C A 14: 50,752,770 (GRCm39) F36L probably benign Het
Or4c106 G A 2: 88,682,947 (GRCm39) V218I probably benign Het
Or4f54 T G 2: 111,123,033 (GRCm39) M140R possibly damaging Het
Or8b41 T A 9: 38,054,623 (GRCm39) M59K probably damaging Het
Osbpl1a A G 18: 13,042,965 (GRCm39) V192A probably benign Het
Pgd T C 4: 149,249,668 (GRCm39) T35A possibly damaging Het
Plcxd3 G T 15: 4,405,160 (GRCm39) probably benign Het
Pramel23 T A 4: 143,424,930 (GRCm39) D171V possibly damaging Het
Prmt7 A G 8: 106,953,930 (GRCm39) T124A probably damaging Het
Pzp A G 6: 128,489,117 (GRCm39) probably null Het
Rilpl2 A G 5: 124,607,788 (GRCm39) V144A probably benign Het
Rin3 T C 12: 102,334,895 (GRCm39) S269P unknown Het
Sgce A T 6: 4,694,153 (GRCm39) F268I probably damaging Het
Sox6 A G 7: 115,111,970 (GRCm39) L552S possibly damaging Het
Tent4a A G 13: 69,655,059 (GRCm39) C472R probably damaging Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r11 A G 6: 57,114,555 (GRCm39) D73G possibly damaging Het
Vmn1r39 A C 6: 66,782,258 (GRCm39) I20R possibly damaging Het
Vmn2r82 C T 10: 79,213,641 (GRCm39) R76* probably null Het
Zhx1 A T 15: 57,915,812 (GRCm39) Y811* probably null 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
R8354:Setbp1 UTSW 18 78,900,598 (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
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'- GCCAATCTCGCAAAGGTGTG -3'
(R):5'- TAATGTCAGCAAGAGAGGAACCATC -3'

Sequencing Primer
(F):5'- CAATCTCGCAAAGGTGTGATGGG -3'
(R):5'- GCCAAGGACAGAGCTTCC -3'
Posted On 2022-07-18