Incidental Mutation 'R9513:Setbp1'
ID 718340
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 # R9513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 78793595-79152606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78899781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1295 (F1295L)
Ref Sequence ENSEMBL: ENSMUSP00000025430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025430]
AlphaFold Q9Z180
Predicted Effect probably damaging
Transcript: ENSMUST00000025430
AA Change: F1295L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: F1295L

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
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Accsl T C 2: 93,699,498 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,530,472 (GRCm39) K5867N possibly damaging Het
Adh1 T A 3: 137,988,571 (GRCm39) Y181* probably null Het
Agbl2 T C 2: 90,631,458 (GRCm39) V272A possibly damaging Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Amotl1 A T 9: 14,526,063 (GRCm39) S6T probably benign Het
Bicd1 T A 6: 149,414,391 (GRCm39) V368E probably damaging Het
Brinp2 G A 1: 158,074,273 (GRCm39) T616I probably damaging Het
C1rl T A 6: 124,485,802 (GRCm39) V391E probably damaging Het
Cacna1e T A 1: 154,318,033 (GRCm39) I1450F probably damaging Het
Camk2a A G 18: 61,088,607 (GRCm39) probably null Het
Ccdc125 A G 13: 100,826,875 (GRCm39) E244G probably benign Het
Cdh23 C T 10: 60,166,995 (GRCm39) A1884T probably damaging Het
Clcn1 T C 6: 42,282,462 (GRCm39) I510T probably damaging Het
Copb1 A T 7: 113,831,432 (GRCm39) V572D probably benign Het
Ctf1 AGCAAC A 7: 127,316,180 (GRCm39) probably null Het
Dnhd1 T A 7: 105,354,179 (GRCm39) L3053Q probably damaging Het
Ephb4 T A 5: 137,361,564 (GRCm39) H531Q possibly damaging Het
Fgl2 T A 5: 21,580,790 (GRCm39) C377* probably null Het
Frmd4a T C 2: 4,608,711 (GRCm39) F860L probably damaging Het
Gbp9 T C 5: 105,229,091 (GRCm39) N519D probably benign Het
Gm1110 A G 9: 26,795,083 (GRCm39) S468P possibly damaging Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gnas T C 2: 174,185,089 (GRCm39) Y916H probably damaging Het
Hectd1 T C 12: 51,816,079 (GRCm39) D1336G possibly damaging Het
Herc2 G T 7: 55,762,848 (GRCm39) G859V probably damaging Het
Hydin G A 8: 111,322,114 (GRCm39) D4589N probably damaging Het
Itfg1 A T 8: 86,490,875 (GRCm39) N351K possibly damaging Het
Kcnd3 G A 3: 105,572,863 (GRCm39) probably null Het
Krt77 A T 15: 101,769,779 (GRCm39) Y364N probably damaging Het
Lcn4 C T 2: 26,560,613 (GRCm39) probably null Het
Lrrn1 T A 6: 107,545,505 (GRCm39) H434Q probably benign Het
Lrrtm2 A G 18: 35,346,687 (GRCm39) I205T probably damaging Het
Mepce G C 5: 137,783,759 (GRCm39) P189R probably damaging Het
Mfap1a T C 2: 121,330,084 (GRCm39) K221E probably benign Het
Myo7a A G 7: 97,746,818 (GRCm39) probably null Het
Ncbp3 T C 11: 72,938,727 (GRCm39) M1T probably null Het
Nck1 A T 9: 100,379,369 (GRCm39) M294K probably benign Het
Nr2f2 A T 7: 70,010,056 (GRCm39) W8R probably damaging Het
Or12e10 T A 2: 87,640,187 (GRCm39) S8T possibly damaging Het
Or1e20-ps1 T A 11: 73,324,818 (GRCm39) Q78L unknown Het
Or4c12b A T 2: 89,647,553 (GRCm39) R288S probably damaging Het
Or6ae1 T A 7: 139,742,822 (GRCm39) I14F possibly damaging Het
Or7e169 A G 9: 19,757,816 (GRCm39) L33P possibly damaging Het
Or8g18 T C 9: 39,149,625 (GRCm39) T32A probably benign Het
Or8j3c A T 2: 86,253,707 (GRCm39) F104L probably damaging Het
Pcdha1 A G 18: 37,065,286 (GRCm39) K650R probably benign Het
Pgm1 T A 4: 99,841,242 (GRCm39) I532N probably damaging Het
Pik3c2a T A 7: 115,939,321 (GRCm39) K1672N probably benign Het
Pou3f1 G A 4: 124,552,835 (GRCm39) G446S probably benign Het
Ppm1j T C 3: 104,693,134 (GRCm39) I497T probably damaging Het
Pprc1 C T 19: 46,056,500 (GRCm39) Q1202* probably null Het
Pramel30 T A 4: 144,059,678 (GRCm39) I463N possibly damaging Het
Prdm15 T C 16: 97,607,704 (GRCm39) N713S probably damaging Het
Ptprb A G 10: 116,138,142 (GRCm39) T62A probably benign Het
Rabl2 T A 15: 89,474,631 (GRCm39) probably null Het
Ranbp3l A T 15: 9,037,176 (GRCm39) R149* probably null Het
Resf1 T A 6: 149,229,793 (GRCm39) Y946* probably null Het
Rfx4 T A 10: 84,674,050 (GRCm39) M1K probably null Het
Ripk4 G T 16: 97,547,098 (GRCm39) S388* probably null Het
Rnft1 T G 11: 86,377,065 (GRCm39) I43R possibly damaging Het
Sez6 A G 11: 77,865,409 (GRCm39) D682G probably damaging Het
Slc1a1 T C 19: 28,812,734 (GRCm39) probably null Het
Slc7a5 G T 8: 122,613,616 (GRCm39) T312K probably benign Het
Slco4c1 A T 1: 96,799,643 (GRCm39) N64K probably benign Het
Spata13 C T 14: 60,929,849 (GRCm39) T469I probably benign Het
Stxbp5 T A 10: 9,687,754 (GRCm39) N440I probably benign Het
Tas2r114 T A 6: 131,666,746 (GRCm39) Q94L probably benign Het
Tasor T A 14: 27,186,271 (GRCm39) C823* probably null Het
Tfr2 A G 5: 137,575,769 (GRCm39) D295G possibly damaging Het
Thap7 A G 16: 17,348,152 (GRCm39) Y60H probably damaging Het
Tjap1 G T 17: 46,569,733 (GRCm39) P409H probably damaging Het
Tmtc4 G A 14: 123,209,204 (GRCm39) A147V probably benign Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Tpra1 T C 6: 88,887,221 (GRCm39) V193A probably benign Het
Trafd1 T C 5: 121,516,837 (GRCm39) N122S possibly damaging Het
Vmn1r151 T A 7: 22,199,096 (GRCm39) D3V probably benign Het
Wdr20rt A G 12: 65,272,825 (GRCm39) Y96C probably damaging Het
Zfp507 A G 7: 35,475,573 (GRCm39) V880A probably benign Het
Zfp598 A G 17: 24,896,568 (GRCm39) D215G probably damaging Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P probably damaging Het
Zfp738 A T 13: 67,817,635 (GRCm39) C785* probably null Het
Zfp985 C T 4: 147,667,999 (GRCm39) T289I probably damaging Het
Zkscan6 T A 11: 65,712,795 (GRCm39) Y243N 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
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
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'- CGTGGTAAAACATGTACCCAGC -3'
(R):5'- GAACAACTTTGAGGTGGACAC -3'

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