Incidental Mutation 'R2117:Setd2'
ID 231093
Institutional Source Beutler Lab
Gene Symbol Setd2
Ensembl Gene ENSMUSG00000044791
Gene Name SET domain containing 2
Synonyms 4921524K10Rik, KMT3A
MMRRC Submission 040121-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R2117 (G1)
Quality Score 217
Status Not validated
Chromosome 9
Chromosomal Location 110532597-110618633 bp(+) (GRCm38)
Type of Mutation frame shift
DNA Base Change (assembly) TTGGGA to T at 110604144 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000153838] [ENSMUST00000197399]
AlphaFold E9Q5F9
Predicted Effect probably null
Transcript: ENSMUST00000153838
SMART Domains Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
low complexity region 156 176 N/A INTRINSIC
low complexity region 185 207 N/A INTRINSIC
low complexity region 297 313 N/A INTRINSIC
low complexity region 392 419 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
low complexity region 867 883 N/A INTRINSIC
low complexity region 1015 1039 N/A INTRINSIC
low complexity region 1066 1077 N/A INTRINSIC
low complexity region 1384 1395 N/A INTRINSIC
AWS 1468 1523 8.39e-30 SMART
SET 1524 1647 3.07e-41 SMART
PostSET 1648 1664 1.27e-5 SMART
Blast:SET 1689 1714 2e-6 BLAST
low complexity region 1884 1909 N/A INTRINSIC
low complexity region 1956 1967 N/A INTRINSIC
coiled coil region 2090 2113 N/A INTRINSIC
low complexity region 2189 2211 N/A INTRINSIC
low complexity region 2248 2265 N/A INTRINSIC
WW 2363 2395 2.1e-11 SMART
Pfam:SRI 2440 2530 6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196814
Predicted Effect probably null
Transcript: ENSMUST00000197399
SMART Domains Protein: ENSMUSP00000142572
Gene: ENSMUSG00000044791

DomainStartEndE-ValueType
WW 7 39 2.1e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198697
Predicted Effect probably null
Transcript: ENSMUST00000200460
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired embryonic vascular remodeling in the embryo proper, yolk sac, and placenta that leads to death around E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,492,537 (GRCm38) C3357S probably benign Het
Ago1 T A 4: 126,463,857 (GRCm38) probably null Het
Akap10 A T 11: 61,890,303 (GRCm38) D562E possibly damaging Het
Akr1b7 G A 6: 34,418,994 (GRCm38) A144T possibly damaging Het
Ankle1 A G 8: 71,407,918 (GRCm38) T340A probably benign Het
Arf5 C T 6: 28,424,784 (GRCm38) Q71* probably null Het
Arl15 C T 13: 113,967,660 (GRCm38) S111F probably damaging Het
Asph G A 4: 9,517,671 (GRCm38) Q468* probably null Het
Bcam G T 7: 19,758,427 (GRCm38) A581E possibly damaging Het
Blvra G T 2: 127,086,069 (GRCm38) E80* probably null Het
Ccr6 T C 17: 8,256,082 (GRCm38) F40L possibly damaging Het
Cfap161 A T 7: 83,775,976 (GRCm38) N302K possibly damaging Het
Ckmt2 T A 13: 91,855,845 (GRCm38) I345F probably benign Het
Cpsf6 A G 10: 117,366,120 (GRCm38) probably benign Het
Ctnna1 A G 18: 35,152,625 (GRCm38) N8S possibly damaging Het
Cyp2d11 A G 15: 82,391,753 (GRCm38) L209P probably damaging Het
Dab2 T C 15: 6,435,615 (GRCm38) V628A probably damaging Het
Dcstamp C T 15: 39,755,175 (GRCm38) Q327* probably null Het
Defb38 A T 8: 19,023,467 (GRCm38) Y63* probably null Het
Dlg5 A T 14: 24,177,758 (GRCm38) L365* probably null Het
Dnai7 C T 6: 145,205,241 (GRCm38) probably null Het
Dnmt3l C A 10: 78,063,296 (GRCm38) L110I probably damaging Het
Exoc3l2 G T 7: 19,494,982 (GRCm38) L108F possibly damaging Het
Exoc4 T A 6: 33,347,825 (GRCm38) N351K possibly damaging Het
Fam83h C A 15: 76,004,733 (GRCm38) E252* probably null Het
Fancm A G 12: 65,077,174 (GRCm38) D202G probably damaging Het
Fat1 T A 8: 45,037,463 (GRCm38) V3804E probably benign Het
Fbxw28 T C 9: 109,330,917 (GRCm38) T190A probably benign Het
Fer1l4 T C 2: 156,039,118 (GRCm38) T843A probably benign Het
Fnip1 A T 11: 54,500,624 (GRCm38) H461L probably damaging Het
Gcn1 A T 5: 115,598,825 (GRCm38) M1276L probably benign Het
Gemin4 A G 11: 76,211,001 (GRCm38) V978A possibly damaging Het
Gm7247 A T 14: 51,365,335 (GRCm38) I43F probably damaging Het
Gm9978 C T 10: 78,486,897 (GRCm38) noncoding transcript Het
Gpr4 T C 7: 19,223,145 (GRCm38) S331P probably damaging Het
Hspa1a T A 17: 34,970,479 (GRCm38) N483Y probably damaging Het
Ift74 A G 4: 94,627,259 (GRCm38) T138A probably benign Het
Ints14 T G 9: 64,979,795 (GRCm38) L336R probably damaging Het
Irak1 G T X: 74,022,612 (GRCm38) P197Q possibly damaging Het
Kif4 A G X: 100,665,717 (GRCm38) S315G probably benign Het
L3mbtl1 T A 2: 162,960,070 (GRCm38) probably null Het
Lamb3 A G 1: 193,334,181 (GRCm38) R657G probably benign Het
Ldc1 C A 4: 130,215,363 (GRCm38) V295L possibly damaging Het
Lrp2 A C 2: 69,483,385 (GRCm38) V2334G probably benign Het
Lrwd1 T A 5: 136,130,478 (GRCm38) Y431F probably damaging Het
Map3k21 A T 8: 125,924,042 (GRCm38) H261L probably benign Het
Meis1 G T 11: 18,881,679 (GRCm38) P453Q probably damaging Het
Mettl16 G T 11: 74,802,929 (GRCm38) M255I probably benign Het
Mllt10 A G 2: 18,162,569 (GRCm38) N435S probably benign Het
Mta2 T C 19: 8,943,516 (GRCm38) I27T probably damaging Het
Nav2 A G 7: 49,464,580 (GRCm38) I771V probably benign Het
Nisch A T 14: 31,177,285 (GRCm38) probably benign Het
Npc1 G A 18: 12,196,556 (GRCm38) P990L probably damaging Het
Nrxn1 A T 17: 90,704,277 (GRCm38) I308K probably damaging Het
Or13l2 C A 3: 97,410,449 (GRCm38) C244F probably damaging Het
Or1ad6 A T 11: 50,969,320 (GRCm38) I101F probably damaging Het
Or5h17 T C 16: 59,000,420 (GRCm38) L245P possibly damaging Het
Otogl T C 10: 107,858,918 (GRCm38) D823G probably benign Het
P2rx7 A G 5: 122,681,266 (GRCm38) T584A probably benign Het
Pals1 T C 12: 78,809,922 (GRCm38) F180L possibly damaging Het
Pank1 T A 19: 34,841,086 (GRCm38) I18F probably damaging Het
Pgap3 A G 11: 98,391,107 (GRCm38) L126P probably damaging Het
Pgap6 C T 17: 26,117,884 (GRCm38) L259F possibly damaging Het
Phka1 C T X: 102,610,201 (GRCm38) R290H probably damaging Het
Pkd2 G A 5: 104,483,176 (GRCm38) E489K probably damaging Het
Prdm16 T A 4: 154,347,925 (GRCm38) S296C probably null Het
Prex2 T A 1: 11,186,713 (GRCm38) N1216K probably damaging Het
Prmt7 A G 8: 106,227,298 (GRCm38) T124A probably damaging Het
Ptpra G T 2: 130,539,735 (GRCm38) R372L probably damaging Het
Ptpro T A 6: 137,443,594 (GRCm38) V1007D probably damaging Het
Rap2b G T 3: 61,365,091 (GRCm38) G12V probably damaging Het
Rapgef5 T A 12: 117,714,064 (GRCm38) probably null Het
Rassf4 A G 6: 116,645,127 (GRCm38) F168S possibly damaging Het
Rtf1 T A 2: 119,705,518 (GRCm38) H184Q probably benign Het
Sacs A G 14: 61,213,771 (GRCm38) K4422R probably benign Het
Sec11c A T 18: 65,800,649 (GRCm38) T9S probably benign Het
Sema3d C T 5: 12,563,273 (GRCm38) T439I probably benign Het
Sephs1 A G 2: 4,899,540 (GRCm38) N243S probably benign Het
Setx A G 2: 29,130,301 (GRCm38) D100G probably benign Het
Slc22a7 C A 17: 46,433,972 (GRCm38) V383L possibly damaging Het
Slc25a40 T C 5: 8,430,417 (GRCm38) C56R probably damaging Het
Stk38l T A 6: 146,768,846 (GRCm38) L229I probably damaging Het
Sult2a5 T C 7: 13,625,434 (GRCm38) S112P probably damaging Het
Syt4 A G 18: 31,440,467 (GRCm38) Y332H probably damaging Het
Tcof1 T C 18: 60,832,785 (GRCm38) E415G possibly damaging Het
Tenm2 A G 11: 36,024,854 (GRCm38) L1951P probably damaging Het
Tlr9 A G 9: 106,225,337 (GRCm38) N609S probably damaging Het
Tmem120a A T 5: 135,736,123 (GRCm38) S266T possibly damaging Het
Tmem132b A G 5: 125,622,551 (GRCm38) E92G probably damaging Het
Tnfrsf18 T A 4: 156,028,516 (GRCm38) V196E probably damaging Het
Trpc1 A T 9: 95,717,584 (GRCm38) L474H probably damaging Het
Trpm6 T C 19: 18,829,952 (GRCm38) V1020A probably damaging Het
Usp20 T A 2: 31,016,305 (GRCm38) C562S probably damaging Het
Usp47 T A 7: 112,067,236 (GRCm38) probably null Het
Vgll1 A C X: 57,092,430 (GRCm38) K53T probably damaging Het
Vmn1r26 T C 6: 58,008,350 (GRCm38) N285D possibly damaging Het
Zfp445 T A 9: 122,853,437 (GRCm38) K480* probably null Het
Zfp786 A G 6: 47,826,997 (GRCm38) V37A probably damaging Het
Zfp821 A G 8: 109,721,219 (GRCm38) E64G probably damaging Het
Zfp994 T A 17: 22,200,981 (GRCm38) D329V probably damaging Het
Zkscan8 T C 13: 21,520,318 (GRCm38) S484G probably damaging Het
Other mutations in Setd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Setd2 APN 9 110,551,136 (GRCm38) missense possibly damaging 0.94
IGL01023:Setd2 APN 9 110,547,513 (GRCm38) nonsense probably null
IGL01063:Setd2 APN 9 110,573,673 (GRCm38) missense probably damaging 1.00
IGL01745:Setd2 APN 9 110,594,711 (GRCm38) missense probably damaging 0.99
IGL01911:Setd2 APN 9 110,617,431 (GRCm38) splice site probably null
IGL01955:Setd2 APN 9 110,549,318 (GRCm38) missense probably benign 0.38
IGL02023:Setd2 APN 9 110,594,636 (GRCm38) missense probably benign 0.06
IGL02080:Setd2 APN 9 110,547,450 (GRCm38) splice site probably null
IGL02412:Setd2 APN 9 110,550,774 (GRCm38) missense probably benign 0.00
IGL02519:Setd2 APN 9 110,553,116 (GRCm38) missense probably damaging 0.97
IGL02631:Setd2 APN 9 110,550,576 (GRCm38) missense possibly damaging 0.80
IGL02754:Setd2 APN 9 110,550,056 (GRCm38) missense possibly damaging 0.77
IGL02828:Setd2 APN 9 110,561,214 (GRCm38) missense probably benign 0.31
IGL03033:Setd2 APN 9 110,551,275 (GRCm38) missense possibly damaging 0.96
IGL03140:Setd2 APN 9 110,614,952 (GRCm38) critical splice donor site probably null
IGL03378:Setd2 APN 9 110,553,152 (GRCm38) missense unknown
American_samoa UTSW 9 110,567,758 (GRCm38) nonsense probably null
slingshot UTSW 9 110,549,507 (GRCm38) missense probably benign 0.00
P0028:Setd2 UTSW 9 110,573,954 (GRCm38) missense probably benign 0.00
PIT4544001:Setd2 UTSW 9 110,551,164 (GRCm38) missense probably damaging 1.00
R0058:Setd2 UTSW 9 110,594,426 (GRCm38) missense probably damaging 0.98
R0058:Setd2 UTSW 9 110,594,426 (GRCm38) missense probably damaging 0.98
R0167:Setd2 UTSW 9 110,573,782 (GRCm38) missense probably damaging 1.00
R0408:Setd2 UTSW 9 110,594,242 (GRCm38) missense probably damaging 1.00
R0452:Setd2 UTSW 9 110,553,100 (GRCm38) splice site probably null
R0541:Setd2 UTSW 9 110,573,673 (GRCm38) missense probably damaging 1.00
R0947:Setd2 UTSW 9 110,548,511 (GRCm38) missense possibly damaging 0.87
R1249:Setd2 UTSW 9 110,573,880 (GRCm38) missense probably damaging 0.99
R1294:Setd2 UTSW 9 110,549,507 (GRCm38) missense probably benign 0.00
R1518:Setd2 UTSW 9 110,602,238 (GRCm38) missense probably damaging 0.98
R1585:Setd2 UTSW 9 110,551,396 (GRCm38) missense unknown
R1647:Setd2 UTSW 9 110,549,864 (GRCm38) missense probably benign 0.12
R1649:Setd2 UTSW 9 110,549,864 (GRCm38) missense probably benign 0.12
R1651:Setd2 UTSW 9 110,549,864 (GRCm38) missense probably benign 0.12
R1652:Setd2 UTSW 9 110,549,864 (GRCm38) missense probably benign 0.12
R1673:Setd2 UTSW 9 110,604,180 (GRCm38) missense probably damaging 0.97
R1703:Setd2 UTSW 9 110,549,864 (GRCm38) missense probably benign 0.12
R1706:Setd2 UTSW 9 110,549,864 (GRCm38) missense probably benign 0.12
R1709:Setd2 UTSW 9 110,549,857 (GRCm38) missense probably benign 0.00
R1752:Setd2 UTSW 9 110,594,605 (GRCm38) missense probably damaging 1.00
R1796:Setd2 UTSW 9 110,617,816 (GRCm38) critical splice acceptor site probably null
R1796:Setd2 UTSW 9 110,550,345 (GRCm38) missense probably benign 0.01
R1812:Setd2 UTSW 9 110,550,102 (GRCm38) missense probably damaging 0.99
R1884:Setd2 UTSW 9 110,556,418 (GRCm38) critical splice donor site probably null
R2024:Setd2 UTSW 9 110,549,133 (GRCm38) missense possibly damaging 0.65
R2051:Setd2 UTSW 9 110,550,890 (GRCm38) missense probably benign
R2120:Setd2 UTSW 9 110,549,864 (GRCm38) missense probably benign 0.12
R2124:Setd2 UTSW 9 110,549,864 (GRCm38) missense probably benign 0.12
R2172:Setd2 UTSW 9 110,549,844 (GRCm38) missense probably benign 0.10
R2179:Setd2 UTSW 9 110,594,688 (GRCm38) nonsense probably null
R2262:Setd2 UTSW 9 110,561,243 (GRCm38) intron probably benign
R2411:Setd2 UTSW 9 110,550,429 (GRCm38) missense possibly damaging 0.46
R2413:Setd2 UTSW 9 110,547,504 (GRCm38) missense probably damaging 1.00
R2419:Setd2 UTSW 9 110,548,997 (GRCm38) missense possibly damaging 0.48
R2424:Setd2 UTSW 9 110,617,522 (GRCm38) missense probably benign 0.37
R3757:Setd2 UTSW 9 110,573,685 (GRCm38) missense probably damaging 0.99
R3765:Setd2 UTSW 9 110,594,246 (GRCm38) missense probably damaging 1.00
R3796:Setd2 UTSW 9 110,549,571 (GRCm38) missense probably benign 0.00
R3797:Setd2 UTSW 9 110,549,571 (GRCm38) missense probably benign 0.00
R3799:Setd2 UTSW 9 110,549,571 (GRCm38) missense probably benign 0.00
R3899:Setd2 UTSW 9 110,592,518 (GRCm38) missense probably damaging 1.00
R3900:Setd2 UTSW 9 110,592,518 (GRCm38) missense probably damaging 1.00
R3913:Setd2 UTSW 9 110,551,046 (GRCm38) missense probably damaging 0.99
R4010:Setd2 UTSW 9 110,599,195 (GRCm38) missense probably null 1.00
R4580:Setd2 UTSW 9 110,574,243 (GRCm38) missense probably benign 0.06
R4614:Setd2 UTSW 9 110,569,813 (GRCm38) critical splice donor site probably null
R4651:Setd2 UTSW 9 110,594,132 (GRCm38) missense possibly damaging 0.53
R4652:Setd2 UTSW 9 110,594,132 (GRCm38) missense possibly damaging 0.53
R4855:Setd2 UTSW 9 110,571,954 (GRCm38) missense probably benign 0.02
R4970:Setd2 UTSW 9 110,548,158 (GRCm38) missense probably benign 0.28
R5112:Setd2 UTSW 9 110,548,158 (GRCm38) missense probably benign 0.28
R5123:Setd2 UTSW 9 110,617,527 (GRCm38) missense possibly damaging 0.76
R5140:Setd2 UTSW 9 110,551,129 (GRCm38) missense probably benign 0.00
R5202:Setd2 UTSW 9 110,551,230 (GRCm38) missense probably damaging 1.00
R5290:Setd2 UTSW 9 110,617,831 (GRCm38) missense probably damaging 1.00
R5560:Setd2 UTSW 9 110,549,839 (GRCm38) nonsense probably null
R5604:Setd2 UTSW 9 110,604,216 (GRCm38) missense probably damaging 0.99
R5678:Setd2 UTSW 9 110,602,186 (GRCm38) missense probably damaging 0.99
R5708:Setd2 UTSW 9 110,548,823 (GRCm38) missense possibly damaging 0.59
R5763:Setd2 UTSW 9 110,556,275 (GRCm38) splice site probably null
R5814:Setd2 UTSW 9 110,567,758 (GRCm38) nonsense probably null
R5924:Setd2 UTSW 9 110,574,044 (GRCm38) missense probably benign 0.23
R6244:Setd2 UTSW 9 110,548,665 (GRCm38) missense probably damaging 1.00
R6313:Setd2 UTSW 9 110,556,366 (GRCm38) missense unknown
R6431:Setd2 UTSW 9 110,550,385 (GRCm38) missense possibly damaging 0.65
R6526:Setd2 UTSW 9 110,532,717 (GRCm38) missense probably benign 0.33
R6579:Setd2 UTSW 9 110,549,778 (GRCm38) missense possibly damaging 0.87
R6996:Setd2 UTSW 9 110,550,572 (GRCm38) missense probably damaging 0.99
R7012:Setd2 UTSW 9 110,547,683 (GRCm38) missense probably damaging 0.97
R7105:Setd2 UTSW 9 110,548,260 (GRCm38) missense probably damaging 1.00
R7134:Setd2 UTSW 9 110,548,797 (GRCm38) missense possibly damaging 0.87
R7222:Setd2 UTSW 9 110,551,462 (GRCm38) missense
R7359:Setd2 UTSW 9 110,562,944 (GRCm38) missense
R7492:Setd2 UTSW 9 110,594,632 (GRCm38) missense
R7643:Setd2 UTSW 9 110,567,840 (GRCm38) splice site probably null
R7869:Setd2 UTSW 9 110,550,014 (GRCm38) nonsense probably null
R7903:Setd2 UTSW 9 110,617,837 (GRCm38) missense
R8004:Setd2 UTSW 9 110,592,545 (GRCm38) missense
R8017:Setd2 UTSW 9 110,602,187 (GRCm38) missense
R8019:Setd2 UTSW 9 110,602,187 (GRCm38) missense
R8366:Setd2 UTSW 9 110,548,748 (GRCm38) missense probably damaging 1.00
R8460:Setd2 UTSW 9 110,594,270 (GRCm38) missense
R8498:Setd2 UTSW 9 110,549,921 (GRCm38) missense probably damaging 0.99
R8725:Setd2 UTSW 9 110,573,844 (GRCm38) missense
R8870:Setd2 UTSW 9 110,594,253 (GRCm38) missense
R8878:Setd2 UTSW 9 110,592,399 (GRCm38) missense probably benign
R9132:Setd2 UTSW 9 110,545,317 (GRCm38) critical splice donor site probably null
R9159:Setd2 UTSW 9 110,545,317 (GRCm38) critical splice donor site probably null
R9198:Setd2 UTSW 9 110,549,100 (GRCm38) missense possibly damaging 0.77
R9277:Setd2 UTSW 9 110,550,551 (GRCm38) missense probably damaging 1.00
R9326:Setd2 UTSW 9 110,549,603 (GRCm38) missense probably benign 0.00
R9558:Setd2 UTSW 9 110,547,560 (GRCm38) missense probably damaging 0.99
R9664:Setd2 UTSW 9 110,548,502 (GRCm38) missense probably damaging 1.00
R9673:Setd2 UTSW 9 110,549,070 (GRCm38) missense probably damaging 1.00
RF009:Setd2 UTSW 9 110,550,711 (GRCm38) missense probably damaging 1.00
Z1176:Setd2 UTSW 9 110,547,275 (GRCm38) missense probably damaging 0.99
Z1176:Setd2 UTSW 9 110,532,726 (GRCm38) missense possibly damaging 0.85
Z1176:Setd2 UTSW 9 110,547,579 (GRCm38) missense probably damaging 0.97
Z1177:Setd2 UTSW 9 110,547,476 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTGCTGAGGAGAAGCTATCAG -3'
(R):5'- CTGGTATGTTTCCTGCATATATGTC -3'

Sequencing Primer
(F):5'- CAGGGCTGTCTGTTACTTT -3'
(R):5'- AGGCAGTTGTAACCTGTCAC -3'
Posted On 2014-09-18