Incidental Mutation 'R5806:Setbp1'
ID 448550
Institutional Source Beutler Lab
Gene Symbol Setbp1
Ensembl Gene ENSMUSG00000024548
Gene Name SET binding protein 1
Synonyms Seb
MMRRC Submission 043392-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.625) question?
Stock # R5806 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 78793595-79152606 bp(-) (GRCm39)
Type of Mutation splice site (2 bp from exon)
DNA Base Change (assembly) A to G at 78899697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000025430]
AlphaFold Q9Z180
Predicted Effect probably null
Transcript: ENSMUST00000025430
SMART Domains Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548

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
Predicted Effect probably null
Transcript: ENSMUST00000161465
SMART Domains Protein: ENSMUSP00000124497
Gene: ENSMUSG00000024548

DomainStartEndE-ValueType
low complexity region 46 55 N/A INTRINSIC
low complexity region 202 212 N/A INTRINSIC
low complexity region 268 298 N/A INTRINSIC
low complexity region 325 333 N/A INTRINSIC
AT_hook 575 587 4.64e-1 SMART
low complexity region 612 618 N/A INTRINSIC
low complexity region 641 664 N/A INTRINSIC
low complexity region 925 934 N/A INTRINSIC
AT_hook 1007 1019 1.89e-1 SMART
low complexity region 1133 1150 N/A INTRINSIC
low complexity region 1363 1384 N/A INTRINSIC
AT_hook 1440 1452 7.27e-1 SMART
low complexity region 1509 1533 N/A INTRINSIC
low complexity region 1545 1561 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,388,731 (GRCm39) M216T probably benign Het
Abhd4 A G 14: 54,499,147 (GRCm39) N36D probably benign Het
Ankra2 T C 13: 98,405,005 (GRCm39) probably null Het
Btd A G 14: 31,389,469 (GRCm39) T397A probably benign Het
Ccbe1 T A 18: 66,209,426 (GRCm39) K205* probably null Het
Clspn A G 4: 126,479,899 (GRCm39) K1081E probably damaging Het
Cmya5 A G 13: 93,230,445 (GRCm39) S1548P possibly damaging Het
Coq8b T A 7: 26,950,050 (GRCm39) Y376* probably null Het
Cpxm1 C A 2: 130,239,393 (GRCm39) A12S probably damaging Het
Cttn T C 7: 144,015,005 (GRCm39) T68A probably damaging Het
Cyp2a12 T A 7: 26,728,504 (GRCm39) probably null Het
Ddx46 A G 13: 55,811,150 (GRCm39) Q582R possibly damaging Het
Ddx55 A G 5: 124,697,262 (GRCm39) E208G probably damaging Het
Dnaaf4 T C 9: 72,869,336 (GRCm39) L182P probably benign Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Ep400 A T 5: 110,903,420 (GRCm39) L393* probably null Het
Ern1 G C 11: 106,289,531 (GRCm39) S924C probably damaging Het
Fanci T C 7: 79,098,596 (GRCm39) I1249T probably damaging Het
Fgfbp3 T G 19: 36,895,949 (GRCm39) D223A probably damaging Het
Frmd6 T C 12: 70,936,794 (GRCm39) L313P probably damaging Het
Galnt17 A G 5: 130,906,657 (GRCm39) Y504H probably damaging Het
Gjb5 A G 4: 127,249,718 (GRCm39) I142T probably benign Het
Gvin1 T C 7: 105,757,413 (GRCm39) D2352G probably benign Het
H2-M2 G A 17: 37,792,617 (GRCm39) T218I probably damaging Het
Hal A G 10: 93,326,846 (GRCm39) T161A probably damaging Het
Helb G A 10: 119,928,424 (GRCm39) R806C probably damaging Het
Ift80 T A 3: 68,857,809 (GRCm39) I279F probably benign Het
Itln1 A T 1: 171,358,720 (GRCm39) I149N possibly damaging Het
Kcnt2 A C 1: 140,437,234 (GRCm39) T556P probably damaging Het
Klk1b22 A T 7: 43,765,301 (GRCm39) E84D possibly damaging Het
Krt78 A G 15: 101,858,937 (GRCm39) L305P probably damaging Het
Lzts2 T C 19: 45,014,806 (GRCm39) probably benign Het
Macf1 A G 4: 123,265,680 (GRCm39) L6843P probably damaging Het
Magi2 C A 5: 20,856,202 (GRCm39) H841Q probably benign Het
Mdm1 A T 10: 118,002,563 (GRCm39) H628L probably benign Het
Med23 A G 10: 24,783,119 (GRCm39) D734G probably damaging Het
Mfsd13a T C 19: 46,354,849 (GRCm39) W9R probably benign Het
Mki67 T C 7: 135,306,334 (GRCm39) H576R probably damaging Het
Muc5b A G 7: 141,416,572 (GRCm39) T3173A possibly damaging Het
Mx1 A T 16: 97,255,351 (GRCm39) V234E possibly damaging Het
Myh2 T C 11: 67,072,141 (GRCm39) L623P probably damaging Het
Naip1 C T 13: 100,581,243 (GRCm39) M1I probably null Het
Ncapd2 A T 6: 125,158,117 (GRCm39) V337E probably damaging Het
Nit2 G A 16: 56,982,056 (GRCm39) T64M possibly damaging Het
Or1e34 A T 11: 73,778,373 (GRCm39) M275K probably damaging Het
Or4c103 T C 2: 88,513,495 (GRCm39) N194D probably damaging Het
Or6e1 A T 14: 54,520,264 (GRCm39) F29L probably benign Het
Otub2 A G 12: 103,369,656 (GRCm39) E245G probably benign Het
Pde8b T C 13: 95,178,548 (GRCm39) K524R probably damaging Het
Pih1d2 C T 9: 50,529,750 (GRCm39) probably benign Het
Pik3cg T A 12: 32,254,952 (GRCm39) D345V possibly damaging Het
Plekhg4 A T 8: 106,105,542 (GRCm39) Q669L possibly damaging Het
Prlr A T 15: 10,319,290 (GRCm39) Y73F probably damaging Het
Ptk6 T C 2: 180,841,523 (GRCm39) I129V possibly damaging Het
Ranbp3 A T 17: 57,017,717 (GRCm39) T458S probably benign Het
Ren1 T A 1: 133,283,249 (GRCm39) Y128* probably null Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rnf222 T C 11: 68,783,789 (GRCm39) S119P possibly damaging Het
Rrbp1 T A 2: 143,805,251 (GRCm39) E1007V probably benign Het
Septin11 G A 5: 93,315,437 (GRCm39) E389K probably benign Het
Slc25a54 T C 3: 108,987,894 (GRCm39) S12P probably benign Het
Slc26a5 A C 5: 22,028,561 (GRCm39) F336V probably damaging Het
Slc5a6 T C 5: 31,198,114 (GRCm39) T254A probably damaging Het
Smcr8 G T 11: 60,671,208 (GRCm39) probably null Het
Srcap A T 7: 127,158,335 (GRCm39) probably benign Het
Srrt A T 5: 137,296,179 (GRCm39) I509N probably damaging Het
Tcf25 T A 8: 124,108,243 (GRCm39) H99Q probably benign Het
Tmem40 A G 6: 115,713,373 (GRCm39) V76A probably benign Het
Tnni3k A T 3: 154,533,248 (GRCm39) S740T possibly damaging Het
Top3a A G 11: 60,667,746 (GRCm39) probably null Het
Tpd52l2 C A 2: 181,144,680 (GRCm39) T109K probably damaging Het
Tsnaxip1 C A 8: 106,564,128 (GRCm39) D109E possibly damaging Het
Uty G T Y: 1,170,921 (GRCm39) D313E probably damaging Het
Zfp143 A T 7: 109,685,442 (GRCm39) K423* probably null Het
Zfp407 C T 18: 84,576,739 (GRCm39) G1458D probably damaging 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
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
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'- GCATTGGCTTTGTGGAACAG -3'
(R):5'- AAAAGGTACTCTGGCAGCGG -3'

Sequencing Primer
(F):5'- CAGAAAGACAGGCAAATCATGTAAAC -3'
(R):5'- TACTCTGGCAGCGGTGGAG -3'
Posted On 2016-12-15