Incidental Mutation 'R1922:Setbp1'
ID 213194
Institutional Source Beutler Lab
Gene Symbol Setbp1
Ensembl Gene ENSMUSG00000024548
Gene Name SET binding protein 1
Synonyms Seb
MMRRC Submission 039940-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R1922 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 78793595-79152606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78901577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 697 (E697K)
Ref Sequence ENSEMBL: ENSMUSP00000025430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025430]
AlphaFold Q9Z180
Predicted Effect possibly damaging
Transcript: ENSMUST00000025430
AA Change: E697K

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025430
Gene: ENSMUSG00000024548
AA Change: E697K

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 possibly damaging
Transcript: ENSMUST00000161465
AA Change: E697K

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124497
Gene: ENSMUSG00000024548
AA Change: E697K

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: 97.5%
  • 3x: 97.1%
  • 10x: 95.8%
  • 20x: 93.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,359,083 (GRCm39) N574K probably benign Het
Adcy9 A T 16: 4,129,521 (GRCm39) L455H probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Amy1 T A 3: 113,358,544 (GRCm39) I163F probably damaging Het
Aoc1l2 A C 6: 48,908,220 (GRCm39) I407L probably benign Het
Armc5 A G 7: 127,839,677 (GRCm39) S332G probably benign Het
Brd4 T C 17: 32,417,060 (GRCm39) probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cfap45 A G 1: 172,372,679 (GRCm39) E458G probably damaging Het
Chrna1 A G 2: 73,398,576 (GRCm39) S288P probably damaging Het
Cpe T A 8: 65,070,723 (GRCm39) D174V probably benign Het
Dclre1c T C 2: 3,441,819 (GRCm39) F235L possibly damaging Het
Ddx20 A T 3: 105,585,900 (GRCm39) V815D probably damaging Het
Dhx9 T C 1: 153,336,020 (GRCm39) probably null Het
Dmxl2 A C 9: 54,308,807 (GRCm39) H1981Q probably benign Het
Doc2a A C 7: 126,450,603 (GRCm39) D293A probably damaging Het
Eif2a C T 3: 58,455,951 (GRCm39) R317C probably damaging Het
Fancc A G 13: 63,478,381 (GRCm39) V318A possibly damaging Het
Fes A T 7: 80,033,734 (GRCm39) Y172* probably null Het
Gipc3 T A 10: 81,174,049 (GRCm39) I242F probably damaging Het
Glul G A 1: 153,783,070 (GRCm39) M214I probably benign Het
Gm14496 A G 2: 181,642,797 (GRCm39) I823V probably benign Het
Gm6665 T C 18: 31,953,318 (GRCm39) N50S probably benign Het
Gm6729 T C 10: 86,376,782 (GRCm39) noncoding transcript Het
Gpr21 T A 2: 37,408,350 (GRCm39) C299S probably damaging Het
Hapln2 T A 3: 87,930,684 (GRCm39) N196Y probably benign Het
Hsd17b12 A G 2: 93,875,737 (GRCm39) V196A probably benign Het
Kalrn A T 16: 34,212,463 (GRCm39) D28E probably benign Het
Kansl1 A T 11: 104,234,466 (GRCm39) L680Q probably damaging Het
Kcna3 T C 3: 106,945,251 (GRCm39) S505P possibly damaging Het
Klra1 A C 6: 130,349,828 (GRCm39) N203K probably benign Het
L3mbtl2 T A 15: 81,559,822 (GRCm39) I236N probably damaging Het
Mcm3ap C A 10: 76,343,195 (GRCm39) P1696T probably damaging Het
Mecom T C 3: 30,011,591 (GRCm39) D647G probably damaging Het
Mn1 A G 5: 111,566,612 (GRCm39) D194G probably damaging Het
Muc5ac A G 7: 141,347,426 (GRCm39) N407S probably benign Het
Mx2 C T 16: 97,361,551 (GRCm39) R584C probably benign Het
Myo1c A G 11: 75,559,055 (GRCm39) R597G probably benign Het
Nav3 T C 10: 109,541,467 (GRCm39) D1932G probably benign Het
Nwd2 T A 5: 63,951,585 (GRCm39) D205E probably benign Het
Obi1 T C 14: 104,716,622 (GRCm39) K584E probably benign Het
Or7a37 T A 10: 78,805,975 (GRCm39) L164* probably null Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Osmr T C 15: 6,873,848 (GRCm39) E183G possibly damaging Het
Peak1 A T 9: 56,113,971 (GRCm39) W627R probably damaging Het
Pkd1 C A 17: 24,814,131 (GRCm39) P4167Q probably damaging Het
Plekhg4 T A 8: 106,105,017 (GRCm39) L560Q probably damaging Het
Prg4 C T 1: 150,325,750 (GRCm39) W1217* probably null Het
Prkdc A G 16: 15,532,130 (GRCm39) I1465V probably benign Het
Pus1 A G 5: 110,925,505 (GRCm39) F105S probably damaging Het
Ranbp3l T C 15: 9,057,206 (GRCm39) S154P probably damaging Het
Rhbdl1 C T 17: 26,054,513 (GRCm39) G211S probably damaging Het
Rrp36 C T 17: 46,983,671 (GRCm39) R47Q possibly damaging Het
Rtp1 T A 16: 23,250,160 (GRCm39) I175N probably damaging Het
Sash1 T A 10: 8,603,672 (GRCm39) N1127Y possibly damaging Het
Slc27a3 A T 3: 90,293,624 (GRCm39) V587E probably benign Het
Slc38a2 A G 15: 96,589,043 (GRCm39) F454L possibly damaging Het
Sprn A T 7: 139,733,458 (GRCm39) probably benign Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tbc1d1 A G 5: 64,468,564 (GRCm39) E732G probably damaging Het
Tnfaip3 A G 10: 18,879,355 (GRCm39) F671S possibly damaging Het
Tor1aip2 C A 1: 155,940,540 (GRCm39) P282Q probably damaging Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Ttll2 A T 17: 7,619,789 (GRCm39) F46Y probably damaging Het
Ttn A G 2: 76,564,494 (GRCm39) S28548P probably damaging Het
Tubb5 T C 17: 36,146,190 (GRCm39) Y340C probably benign Het
Usp32 A T 11: 84,897,830 (GRCm39) C1170* probably null Het
Usp54 G T 14: 20,610,972 (GRCm39) H1281Q probably benign Het
Vgll4 C T 6: 114,898,296 (GRCm39) G22S probably benign Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Zdhhc5 A T 2: 84,523,771 (GRCm39) F225Y probably damaging Het
Zfp652 A G 11: 95,654,851 (GRCm39) E418G possibly 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
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'- TGCCATTGGACCCACCTAAC -3'
(R):5'- AACCCATGAGCGAAATGAAGTTTC -3'

Sequencing Primer
(F):5'- ACCCACCTAACTGTGTTGAGAGTG -3'
(R):5'- TTTCACAAAAAGGTTGGCAAGC -3'
Posted On 2014-07-14