Incidental Mutation 'R1709:Setd2'
ID 190337
Institutional Source Beutler Lab
Gene Symbol Setd2
Ensembl Gene ENSMUSG00000044791
Gene Name SET domain containing 2
Synonyms KMT3A, 4921524K10Rik
MMRRC Submission 039742-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R1709 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 110361665-110447701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110378925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 913 (D913E)
Ref Sequence ENSEMBL: ENSMUSP00000116313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000153838]
AlphaFold E9Q5F9
Predicted Effect probably benign
Transcript: ENSMUST00000153838
AA Change: D913E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: D913E

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 unknown
Transcript: ENSMUST00000196814
AA Change: D629E
Predicted Effect probably benign
Transcript: ENSMUST00000198823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199595
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,566,942 (GRCm39) K152E probably benign Het
Adgrd1 T C 5: 129,256,292 (GRCm39) V641A possibly damaging Het
Adgrv1 A T 13: 81,741,179 (GRCm39) V95E probably damaging Het
Agbl5 G A 5: 31,063,585 (GRCm39) C872Y probably damaging Het
Aldh1a7 G T 19: 20,693,316 (GRCm39) T201K probably damaging Het
Aox1 C T 1: 58,116,633 (GRCm39) A788V probably benign Het
Apob T C 12: 8,059,306 (GRCm39) V2563A probably damaging Het
Atcay G A 10: 81,049,065 (GRCm39) T179I probably damaging Het
Atf5 A T 7: 44,462,707 (GRCm39) L139Q probably benign Het
Atp13a3 T C 16: 30,134,659 (GRCm39) T1205A probably benign Het
Atr C T 9: 95,753,129 (GRCm39) T656I probably benign Het
Bloc1s3 T C 7: 19,241,453 (GRCm39) E25G possibly damaging Het
Brap T C 5: 121,803,353 (GRCm39) probably null Het
C6 G T 15: 4,820,452 (GRCm39) A488S probably benign Het
Ccin T C 4: 43,984,133 (GRCm39) F180S probably damaging Het
Cd207 T C 6: 83,649,818 (GRCm39) I256V possibly damaging Het
Cdc42bpa G T 1: 179,894,789 (GRCm39) C323F probably damaging Het
Cfap57 T C 4: 118,428,901 (GRCm39) T1022A probably benign Het
Cmtr2 A T 8: 110,948,581 (GRCm39) Q297L probably benign Het
Coro7 A T 16: 4,452,305 (GRCm39) probably null Het
Cpsf2 T A 12: 101,965,801 (GRCm39) Y589N probably damaging Het
Cpxm2 T C 7: 131,661,563 (GRCm39) Y408C probably damaging Het
Crocc A G 4: 140,753,410 (GRCm39) probably null Het
Cryzl1 A C 16: 91,509,124 (GRCm39) F59C probably damaging Het
Csmd2 T C 4: 128,389,988 (GRCm39) V2241A probably damaging Het
Cxcl15 C A 5: 90,949,275 (GRCm39) H147N unknown Het
Dennd4a A G 9: 64,796,887 (GRCm39) T860A possibly damaging Het
Dnah10 C T 5: 124,837,155 (GRCm39) P966L probably damaging Het
Dpp9 T A 17: 56,501,431 (GRCm39) M594L probably benign Het
Dspp C A 5: 104,323,590 (GRCm39) N244K probably damaging Het
Efcab8 T A 2: 153,656,290 (GRCm39) probably null Het
Elapor2 C T 5: 9,490,726 (GRCm39) R579* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw17 A G 13: 50,585,693 (GRCm39) M299V probably benign Het
Fbxw7 T A 3: 84,883,659 (GRCm39) I530N probably damaging Het
Gp2 C A 7: 119,050,808 (GRCm39) D308Y probably null Het
Gpd2 G A 2: 57,247,667 (GRCm39) V537M probably damaging Het
Gpr18 T A 14: 122,149,404 (GRCm39) Y207F probably damaging Het
Grip1 A T 10: 119,733,620 (GRCm39) D20V probably damaging Het
Gzmf A C 14: 56,444,397 (GRCm39) F59V probably damaging Het
H3c1 T A 13: 23,945,964 (GRCm39) I125F probably damaging Het
Igfn1 T C 1: 135,883,311 (GRCm39) I2732V probably benign Het
Ipo8 A T 6: 148,684,226 (GRCm39) D855E probably benign Het
Klrk1 A T 6: 129,591,682 (GRCm39) probably null Het
Megf11 A G 9: 64,602,694 (GRCm39) Y876C probably damaging Het
Mettl8 G T 2: 70,812,495 (GRCm39) Q12K probably benign Het
Mrgprf T C 7: 144,861,954 (GRCm39) F172S probably benign Het
Mycbp2 G A 14: 103,461,852 (GRCm39) T1432I probably damaging Het
Nek11 A C 9: 105,225,260 (GRCm39) L84R probably damaging Het
Nlrp1b T C 11: 71,092,099 (GRCm39) E9G probably benign Het
Nrxn1 T C 17: 90,344,615 (GRCm39) I433V probably damaging Het
Nup153 A G 13: 46,847,450 (GRCm39) C660R probably damaging Het
Or1o11 T A 17: 37,757,091 (GRCm39) Y226* probably null Het
Or2a25 T C 6: 42,889,078 (GRCm39) V207A possibly damaging Het
Or4z4 G T 19: 12,076,245 (GRCm39) P253T probably damaging Het
Or5h26 T A 16: 58,988,264 (GRCm39) M81L probably benign Het
P2rx7 T A 5: 122,808,528 (GRCm39) N303K possibly damaging Het
Pank4 T C 4: 155,054,504 (GRCm39) L159P probably damaging Het
Pcdhb22 A T 18: 37,651,553 (GRCm39) H7L probably benign Het
Pdzd8 A T 19: 59,289,771 (GRCm39) I543N probably benign Het
Pramel25 T C 4: 143,520,116 (GRCm39) V120A possibly damaging Het
Prrc2b C A 2: 32,084,473 (GRCm39) R313S probably damaging Het
Rbm12b1 T C 4: 12,145,827 (GRCm39) C600R probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rfx6 T A 10: 51,554,498 (GRCm39) M113K possibly damaging Het
Rlf A T 4: 121,007,020 (GRCm39) D653E probably benign Het
Rnf130 A G 11: 49,978,213 (GRCm39) D258G possibly damaging Het
Robo2 A G 16: 73,753,411 (GRCm39) V822A possibly damaging Het
Rps6kc1 G T 1: 190,532,533 (GRCm39) Q490K possibly damaging Het
Scn9a T C 2: 66,313,850 (GRCm39) Y1945C probably damaging Het
Sfr1 G T 19: 47,723,442 (GRCm39) E315D possibly damaging Het
Smarca5 G A 8: 81,435,849 (GRCm39) R763* probably null Het
Sugct A C 13: 17,847,151 (GRCm39) I44S probably damaging Het
Syce1l A G 8: 114,380,662 (GRCm39) probably null Het
Tbc1d8b A G X: 138,634,829 (GRCm39) I654V probably benign Het
Tcf23 T A 5: 31,130,852 (GRCm39) Y163* probably null Het
Terf2ip TG T 8: 112,738,238 (GRCm39) probably null Het
Tmem158 T C 9: 123,088,950 (GRCm39) S221G possibly damaging Het
Tnrc6a A G 7: 122,769,205 (GRCm39) T332A probably benign Het
Trappc4 T C 9: 44,318,508 (GRCm39) T31A probably benign Het
Trim27 T C 13: 21,372,235 (GRCm39) probably null Het
Ttyh2 T A 11: 114,599,301 (GRCm39) L330Q probably damaging Het
Tubgcp3 A T 8: 12,689,532 (GRCm39) L578* probably null Het
Txndc11 C A 16: 10,946,565 (GRCm39) E83* probably null Het
Utp20 T C 10: 88,585,159 (GRCm39) K2635R probably benign Het
V1ra8 C T 6: 90,180,304 (GRCm39) T169I probably damaging Het
Vcl G A 14: 21,069,441 (GRCm39) V706I probably benign Het
Vmn2r106 A T 17: 20,499,373 (GRCm39) D179E probably benign Het
Vmn2r80 T C 10: 79,030,223 (GRCm39) M683T probably benign Het
Xirp2 A G 2: 67,340,215 (GRCm39) I819V probably benign Het
Zfp735 T C 11: 73,602,589 (GRCm39) F511S probably benign Het
Zfp831 T C 2: 174,487,683 (GRCm39) V786A probably benign Het
Zfp992 T A 4: 146,550,949 (GRCm39) H223Q probably benign Het
Zfyve19 A C 2: 119,041,300 (GRCm39) Q72P probably damaging Het
Other mutations in Setd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Setd2 APN 9 110,380,204 (GRCm39) missense possibly damaging 0.94
IGL01023:Setd2 APN 9 110,376,581 (GRCm39) nonsense probably null
IGL01063:Setd2 APN 9 110,402,741 (GRCm39) missense probably damaging 1.00
IGL01745:Setd2 APN 9 110,423,779 (GRCm39) missense probably damaging 0.99
IGL01911:Setd2 APN 9 110,446,499 (GRCm39) splice site probably null
IGL01955:Setd2 APN 9 110,378,386 (GRCm39) missense probably benign 0.38
IGL02023:Setd2 APN 9 110,423,704 (GRCm39) missense probably benign 0.06
IGL02080:Setd2 APN 9 110,376,518 (GRCm39) splice site probably null
IGL02412:Setd2 APN 9 110,379,842 (GRCm39) missense probably benign 0.00
IGL02519:Setd2 APN 9 110,382,184 (GRCm39) missense probably damaging 0.97
IGL02631:Setd2 APN 9 110,379,644 (GRCm39) missense possibly damaging 0.80
IGL02754:Setd2 APN 9 110,379,124 (GRCm39) missense possibly damaging 0.77
IGL02828:Setd2 APN 9 110,390,282 (GRCm39) missense probably benign 0.31
IGL03033:Setd2 APN 9 110,380,343 (GRCm39) missense possibly damaging 0.96
IGL03140:Setd2 APN 9 110,444,020 (GRCm39) critical splice donor site probably null
IGL03378:Setd2 APN 9 110,382,220 (GRCm39) missense unknown
American_samoa UTSW 9 110,396,826 (GRCm39) nonsense probably null
slingshot UTSW 9 110,378,575 (GRCm39) missense probably benign 0.00
P0028:Setd2 UTSW 9 110,403,022 (GRCm39) missense probably benign 0.00
PIT4544001:Setd2 UTSW 9 110,380,232 (GRCm39) missense probably damaging 1.00
R0058:Setd2 UTSW 9 110,423,494 (GRCm39) missense probably damaging 0.98
R0058:Setd2 UTSW 9 110,423,494 (GRCm39) missense probably damaging 0.98
R0167:Setd2 UTSW 9 110,402,850 (GRCm39) missense probably damaging 1.00
R0408:Setd2 UTSW 9 110,423,310 (GRCm39) missense probably damaging 1.00
R0452:Setd2 UTSW 9 110,382,168 (GRCm39) splice site probably null
R0541:Setd2 UTSW 9 110,402,741 (GRCm39) missense probably damaging 1.00
R0947:Setd2 UTSW 9 110,377,579 (GRCm39) missense possibly damaging 0.87
R1249:Setd2 UTSW 9 110,402,948 (GRCm39) missense probably damaging 0.99
R1294:Setd2 UTSW 9 110,378,575 (GRCm39) missense probably benign 0.00
R1518:Setd2 UTSW 9 110,431,306 (GRCm39) missense probably damaging 0.98
R1585:Setd2 UTSW 9 110,380,464 (GRCm39) missense unknown
R1647:Setd2 UTSW 9 110,378,932 (GRCm39) missense probably benign 0.12
R1649:Setd2 UTSW 9 110,378,932 (GRCm39) missense probably benign 0.12
R1651:Setd2 UTSW 9 110,378,932 (GRCm39) missense probably benign 0.12
R1652:Setd2 UTSW 9 110,378,932 (GRCm39) missense probably benign 0.12
R1673:Setd2 UTSW 9 110,433,248 (GRCm39) missense probably damaging 0.97
R1703:Setd2 UTSW 9 110,378,932 (GRCm39) missense probably benign 0.12
R1706:Setd2 UTSW 9 110,378,932 (GRCm39) missense probably benign 0.12
R1752:Setd2 UTSW 9 110,423,673 (GRCm39) missense probably damaging 1.00
R1796:Setd2 UTSW 9 110,446,884 (GRCm39) critical splice acceptor site probably null
R1796:Setd2 UTSW 9 110,379,413 (GRCm39) missense probably benign 0.01
R1812:Setd2 UTSW 9 110,379,170 (GRCm39) missense probably damaging 0.99
R1884:Setd2 UTSW 9 110,385,486 (GRCm39) critical splice donor site probably null
R2024:Setd2 UTSW 9 110,378,201 (GRCm39) missense possibly damaging 0.65
R2051:Setd2 UTSW 9 110,379,958 (GRCm39) missense probably benign
R2117:Setd2 UTSW 9 110,433,212 (GRCm39) frame shift probably null
R2120:Setd2 UTSW 9 110,378,932 (GRCm39) missense probably benign 0.12
R2124:Setd2 UTSW 9 110,378,932 (GRCm39) missense probably benign 0.12
R2172:Setd2 UTSW 9 110,378,912 (GRCm39) missense probably benign 0.10
R2179:Setd2 UTSW 9 110,423,756 (GRCm39) nonsense probably null
R2262:Setd2 UTSW 9 110,390,311 (GRCm39) intron probably benign
R2411:Setd2 UTSW 9 110,379,497 (GRCm39) missense possibly damaging 0.46
R2413:Setd2 UTSW 9 110,376,572 (GRCm39) missense probably damaging 1.00
R2419:Setd2 UTSW 9 110,378,065 (GRCm39) missense possibly damaging 0.48
R2424:Setd2 UTSW 9 110,446,590 (GRCm39) missense probably benign 0.37
R3757:Setd2 UTSW 9 110,402,753 (GRCm39) missense probably damaging 0.99
R3765:Setd2 UTSW 9 110,423,314 (GRCm39) missense probably damaging 1.00
R3796:Setd2 UTSW 9 110,378,639 (GRCm39) missense probably benign 0.00
R3797:Setd2 UTSW 9 110,378,639 (GRCm39) missense probably benign 0.00
R3799:Setd2 UTSW 9 110,378,639 (GRCm39) missense probably benign 0.00
R3899:Setd2 UTSW 9 110,421,586 (GRCm39) missense probably damaging 1.00
R3900:Setd2 UTSW 9 110,421,586 (GRCm39) missense probably damaging 1.00
R3913:Setd2 UTSW 9 110,380,114 (GRCm39) missense probably damaging 0.99
R4010:Setd2 UTSW 9 110,428,263 (GRCm39) missense probably null 1.00
R4580:Setd2 UTSW 9 110,403,311 (GRCm39) missense probably benign 0.06
R4614:Setd2 UTSW 9 110,398,881 (GRCm39) critical splice donor site probably null
R4651:Setd2 UTSW 9 110,423,200 (GRCm39) missense possibly damaging 0.53
R4652:Setd2 UTSW 9 110,423,200 (GRCm39) missense possibly damaging 0.53
R4855:Setd2 UTSW 9 110,401,022 (GRCm39) missense probably benign 0.02
R4970:Setd2 UTSW 9 110,377,226 (GRCm39) missense probably benign 0.28
R5112:Setd2 UTSW 9 110,377,226 (GRCm39) missense probably benign 0.28
R5123:Setd2 UTSW 9 110,446,595 (GRCm39) missense possibly damaging 0.76
R5140:Setd2 UTSW 9 110,380,197 (GRCm39) missense probably benign 0.00
R5202:Setd2 UTSW 9 110,380,298 (GRCm39) missense probably damaging 1.00
R5290:Setd2 UTSW 9 110,446,899 (GRCm39) missense probably damaging 1.00
R5560:Setd2 UTSW 9 110,378,907 (GRCm39) nonsense probably null
R5604:Setd2 UTSW 9 110,433,284 (GRCm39) missense probably damaging 0.99
R5678:Setd2 UTSW 9 110,431,254 (GRCm39) missense probably damaging 0.99
R5708:Setd2 UTSW 9 110,377,891 (GRCm39) missense possibly damaging 0.59
R5763:Setd2 UTSW 9 110,385,343 (GRCm39) splice site probably null
R5814:Setd2 UTSW 9 110,396,826 (GRCm39) nonsense probably null
R5924:Setd2 UTSW 9 110,403,112 (GRCm39) missense probably benign 0.23
R6244:Setd2 UTSW 9 110,377,733 (GRCm39) missense probably damaging 1.00
R6313:Setd2 UTSW 9 110,385,434 (GRCm39) missense unknown
R6431:Setd2 UTSW 9 110,379,453 (GRCm39) missense possibly damaging 0.65
R6526:Setd2 UTSW 9 110,361,785 (GRCm39) missense probably benign 0.33
R6579:Setd2 UTSW 9 110,378,846 (GRCm39) missense possibly damaging 0.87
R6996:Setd2 UTSW 9 110,379,640 (GRCm39) missense probably damaging 0.99
R7012:Setd2 UTSW 9 110,376,751 (GRCm39) missense probably damaging 0.97
R7105:Setd2 UTSW 9 110,377,328 (GRCm39) missense probably damaging 1.00
R7134:Setd2 UTSW 9 110,377,865 (GRCm39) missense possibly damaging 0.87
R7222:Setd2 UTSW 9 110,380,530 (GRCm39) missense
R7359:Setd2 UTSW 9 110,392,012 (GRCm39) missense
R7492:Setd2 UTSW 9 110,423,700 (GRCm39) missense
R7643:Setd2 UTSW 9 110,396,908 (GRCm39) splice site probably null
R7869:Setd2 UTSW 9 110,379,082 (GRCm39) nonsense probably null
R7903:Setd2 UTSW 9 110,446,905 (GRCm39) missense
R8004:Setd2 UTSW 9 110,421,613 (GRCm39) missense
R8017:Setd2 UTSW 9 110,431,255 (GRCm39) missense
R8019:Setd2 UTSW 9 110,431,255 (GRCm39) missense
R8366:Setd2 UTSW 9 110,377,816 (GRCm39) missense probably damaging 1.00
R8460:Setd2 UTSW 9 110,423,338 (GRCm39) missense
R8498:Setd2 UTSW 9 110,378,989 (GRCm39) missense probably damaging 0.99
R8725:Setd2 UTSW 9 110,402,912 (GRCm39) missense
R8870:Setd2 UTSW 9 110,423,321 (GRCm39) missense
R8878:Setd2 UTSW 9 110,421,467 (GRCm39) missense probably benign
R9132:Setd2 UTSW 9 110,374,385 (GRCm39) critical splice donor site probably null
R9159:Setd2 UTSW 9 110,374,385 (GRCm39) critical splice donor site probably null
R9198:Setd2 UTSW 9 110,378,168 (GRCm39) missense possibly damaging 0.77
R9277:Setd2 UTSW 9 110,379,619 (GRCm39) missense probably damaging 1.00
R9326:Setd2 UTSW 9 110,378,671 (GRCm39) missense probably benign 0.00
R9558:Setd2 UTSW 9 110,376,628 (GRCm39) missense probably damaging 0.99
R9664:Setd2 UTSW 9 110,377,570 (GRCm39) missense probably damaging 1.00
R9673:Setd2 UTSW 9 110,378,138 (GRCm39) missense probably damaging 1.00
RF009:Setd2 UTSW 9 110,379,779 (GRCm39) missense probably damaging 1.00
Z1176:Setd2 UTSW 9 110,376,343 (GRCm39) missense probably damaging 0.99
Z1176:Setd2 UTSW 9 110,361,794 (GRCm39) missense possibly damaging 0.85
Z1176:Setd2 UTSW 9 110,376,647 (GRCm39) missense probably damaging 0.97
Z1177:Setd2 UTSW 9 110,376,544 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGATAATAGGGAGCCGACAGACC -3'
(R):5'- TCGCTTGAACTTGCAGAAGATCCAG -3'

Sequencing Primer
(F):5'- GCATTGGTAGCACTAGTTCAGC -3'
(R):5'- CATGGACAGTAGATACAATCTCTGG -3'
Posted On 2014-05-14