Incidental Mutation 'R1496:Setbp1'
ID 168913
Institutional Source Beutler Lab
Gene Symbol Setbp1
Ensembl Gene ENSMUSG00000024548
Gene Name SET binding protein 1
Synonyms Seb
MMRRC Submission 039547-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.625) question?
Stock # R1496 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 78793595-79152606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 78903127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 180 (K180T)
Ref Sequence ENSEMBL: ENSMUSP00000025430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025430]
AlphaFold Q9Z180
Predicted Effect probably damaging
Transcript: ENSMUST00000025430
AA Change: K180T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: K180T

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 damaging
Transcript: ENSMUST00000161465
AA Change: K180T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124497
Gene: ENSMUSG00000024548
AA Change: K180T

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
Meta Mutation Damage Score 0.0865 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 98% (94/96)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A G 9: 46,221,552 (GRCm39) probably benign Het
4933411K16Rik T C 19: 42,041,489 (GRCm39) Y207H probably damaging Het
Abcc1 T A 16: 14,266,298 (GRCm39) L832Q probably damaging Het
Acan T A 7: 78,750,552 (GRCm39) H1774Q probably benign Het
Adss2 T C 1: 177,599,760 (GRCm39) T275A probably benign Het
Ano5 G A 7: 51,233,523 (GRCm39) R595H probably damaging Het
Araf G T X: 20,725,943 (GRCm39) R522L probably damaging Het
Arhgef28 C T 13: 98,102,054 (GRCm39) V807I possibly damaging Het
Bin1 T C 18: 32,545,757 (GRCm39) I103T probably damaging Het
C4b C T 17: 34,958,995 (GRCm39) R478Q probably benign Het
Cacna1b G A 2: 24,568,047 (GRCm39) P1015S probably benign Het
Capn1 A G 19: 6,057,528 (GRCm39) probably null Het
Cep290 A G 10: 100,374,828 (GRCm39) Q1358R probably damaging Het
Cfap126 T C 1: 170,953,386 (GRCm39) probably benign Het
Chn1 T C 2: 73,509,951 (GRCm39) probably benign Het
Cldn8 T C 16: 88,359,289 (GRCm39) E212G probably benign Het
Cpb1 T C 3: 20,317,696 (GRCm39) N249S probably damaging Het
Cxcr6 A T 9: 123,639,412 (GRCm39) I138F probably benign Het
Dab2ip G A 2: 35,608,803 (GRCm39) R579H probably damaging Het
Dcaf8 T C 1: 172,021,422 (GRCm39) M538T probably benign Het
Dhrs4 T G 14: 55,725,107 (GRCm39) L201V probably damaging Het
Dnah12 C T 14: 26,431,403 (GRCm39) A407V probably benign Het
Elavl3 T A 9: 21,937,461 (GRCm39) probably benign Het
Elp4 T C 2: 105,662,506 (GRCm39) H88R probably benign Het
Ercc3 T C 18: 32,394,350 (GRCm39) probably benign Het
Eri1 A G 8: 35,936,335 (GRCm39) S329P possibly damaging Het
Erich2 A T 2: 70,343,117 (GRCm39) probably benign Het
Esyt1 A G 10: 128,348,297 (GRCm39) S864P possibly damaging Het
Fam170b A G 14: 32,557,588 (GRCm39) E141G probably damaging Het
Fat1 A G 8: 45,486,427 (GRCm39) Y3304C probably damaging Het
Fbn1 T C 2: 125,151,415 (GRCm39) T2531A probably benign Het
Fgfr3 T C 5: 33,887,094 (GRCm39) V166A probably damaging Het
Glt8d2 T C 10: 82,495,372 (GRCm39) D194G probably damaging Het
Gpr89 A G 3: 96,812,526 (GRCm39) I5T probably benign Het
Gpx6 A T 13: 21,503,090 (GRCm39) H168L probably benign Het
Gusb T C 5: 130,027,385 (GRCm39) T307A probably benign Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Ifngr1 A G 10: 19,477,193 (GRCm39) D118G probably benign Het
Ipcef1 A T 10: 6,885,173 (GRCm39) probably null Het
Kbtbd3 A T 9: 4,330,276 (GRCm39) T217S probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Lrp1 T C 10: 127,374,880 (GRCm39) D4526G probably damaging Het
Lrp1b A T 2: 42,213,674 (GRCm39) V46D probably damaging Het
Lsm8 T A 6: 18,849,658 (GRCm39) M22K probably benign Het
Map1lc3b C T 8: 122,323,339 (GRCm39) R70C possibly damaging Het
Meiob T A 17: 25,032,026 (GRCm39) S14T possibly damaging Het
Mkx G T 18: 6,992,330 (GRCm39) Y183* probably null Het
Mrs2 T C 13: 25,189,017 (GRCm39) Y99C probably benign Het
Mycbpap T C 11: 94,396,387 (GRCm39) K151R probably benign Het
Neb T G 2: 52,218,746 (GRCm39) Q88P probably damaging Het
Noc4l T A 5: 110,797,944 (GRCm39) H319L probably damaging Het
Nt5c2 G A 19: 46,893,417 (GRCm39) T122I probably damaging Het
Nuggc A T 14: 65,861,582 (GRCm39) N476I probably damaging Het
Obscn T A 11: 58,921,862 (GRCm39) H5978L probably benign Het
Oc90 G T 15: 65,748,370 (GRCm39) A412D probably damaging Het
Or2l13b T A 16: 19,349,133 (GRCm39) D179V possibly damaging Het
Or3a4 A G 11: 73,944,650 (GRCm39) *312Q probably null Het
Or4a76 A G 2: 89,460,358 (GRCm39) S295P possibly damaging Het
Or5w18 T G 2: 87,633,212 (GRCm39) S160A probably benign Het
Or7a42 T A 10: 78,791,682 (GRCm39) S214R probably benign Het
Or8k33 A T 2: 86,384,096 (GRCm39) V124E probably damaging Het
Pdzrn3 A T 6: 101,127,930 (GRCm39) V912E probably benign Het
Phactr1 T A 13: 43,248,466 (GRCm39) Y387N probably damaging Het
Picalm T A 7: 89,779,859 (GRCm39) C27S probably benign Het
Pkd1l1 T A 11: 8,891,077 (GRCm39) I314F possibly damaging Het
Pold2 T C 11: 5,824,175 (GRCm39) E210G possibly damaging Het
Ptprz1 C T 6: 23,049,523 (GRCm39) probably benign Het
Rac1 G T 5: 143,493,093 (GRCm39) A165E probably damaging Het
Rpap3 G T 15: 97,584,364 (GRCm39) T360K possibly damaging Het
Scn9a G A 2: 66,357,232 (GRCm39) T1012I probably benign Het
Sdad1 A G 5: 92,457,682 (GRCm39) I20T possibly damaging Het
Sgpl1 T C 10: 60,938,368 (GRCm39) N475S probably damaging Het
Shroom3 T C 5: 93,090,693 (GRCm39) S1148P possibly damaging Het
Sin3a T A 9: 57,026,442 (GRCm39) H1119Q possibly damaging Het
Slc26a7 T A 4: 14,506,489 (GRCm39) Y620F probably benign Het
Slc4a1 T C 11: 102,251,997 (GRCm39) I36V probably benign Het
Smarca2 C G 19: 26,608,501 (GRCm39) P263A possibly damaging Het
Sp100 T C 1: 85,591,242 (GRCm39) probably benign Het
Spag6l A G 16: 16,598,478 (GRCm39) probably benign Het
Sptbn1 T C 11: 30,071,498 (GRCm39) N1491S probably damaging Het
Tbl1xr1 T G 3: 22,245,115 (GRCm39) V155G possibly damaging Het
Tmc1 A G 19: 20,845,719 (GRCm39) I168T probably damaging Het
Tmem87b G A 2: 128,668,313 (GRCm39) probably null Het
Tnfrsf9 T A 4: 151,017,561 (GRCm39) probably null Het
Tnni3k T C 3: 154,645,295 (GRCm39) D530G probably damaging Het
Vmn1r209 G A 13: 22,989,934 (GRCm39) S252F probably damaging Het
Zbtb3 A T 19: 8,780,714 (GRCm39) N109I probably damaging Het
Zdhhc17 T G 10: 110,782,071 (GRCm39) H541P probably damaging Het
Zfp84 A G 7: 29,476,039 (GRCm39) I244V possibly damaging Het
Zyx A G 6: 42,333,246 (GRCm39) Y393C 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
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
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'- TCTTTGCTACTGCTGGACAACTGAC -3'
(R):5'- GGGGCAGCAATTAAAGCATCCTTG -3'

Sequencing Primer
(F):5'- TTCAAGAGCTGGGACCTTGC -3'
(R):5'- CCTTGCTAATGTCCAAATTCAGTG -3'
Posted On 2014-04-13