Incidental Mutation 'IGL02519:Setd2'
ID 296899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Setd2
Ensembl Gene ENSMUSG00000044791
Gene Name SET domain containing 2
Synonyms KMT3A, 4921524K10Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # IGL02519
Quality Score
Status
Chromosome 9
Chromosomal Location 110361665-110447701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110382184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1464 (S1464P)
Ref Sequence ENSEMBL: ENSMUSP00000116313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000153838]
AlphaFold E9Q5F9
Predicted Effect probably damaging
Transcript: ENSMUST00000153838
AA Change: S1464P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: S1464P

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: S1180P
Predicted Effect unknown
Transcript: ENSMUST00000198823
AA Change: S71P
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A T 2: 26,868,687 (GRCm39) I224F probably damaging Het
Adamts17 A G 7: 66,774,721 (GRCm39) T947A possibly damaging Het
Ankfn1 T C 11: 89,296,504 (GRCm39) E75G probably benign Het
Arfgef1 G T 1: 10,279,893 (GRCm39) H225N probably benign Het
Arsi A G 18: 61,050,139 (GRCm39) S341G probably damaging Het
Aspm T A 1: 139,389,665 (GRCm39) probably benign Het
Bltp1 A G 3: 36,949,464 (GRCm39) E370G probably damaging Het
Cacna1i C T 15: 80,246,075 (GRCm39) R490* probably null Het
Cd33 C T 7: 43,178,153 (GRCm39) probably benign Het
Clmn T C 12: 104,758,112 (GRCm39) I135V probably damaging Het
Crebbp A T 16: 3,919,457 (GRCm39) N795K possibly damaging Het
Dhps A G 8: 85,799,928 (GRCm39) D126G probably damaging Het
Dlg2 G T 7: 91,589,323 (GRCm39) V196L possibly damaging Het
Dsg1c T A 18: 20,416,790 (GRCm39) I897N probably damaging Het
Dzip3 A G 16: 48,748,759 (GRCm39) L1059S probably damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Fgf17 A G 14: 70,875,968 (GRCm39) I88T probably damaging Het
G3bp2 A G 5: 92,214,383 (GRCm39) V137A possibly damaging Het
Gnal G A 18: 67,221,836 (GRCm39) E80K unknown Het
Hectd1 T G 12: 51,815,894 (GRCm39) S1393R probably damaging Het
Igsf6 T C 7: 120,667,496 (GRCm39) I173M possibly damaging Het
Il2ra A C 2: 11,687,901 (GRCm39) E227A possibly damaging Het
Iqcf6 C T 9: 106,504,479 (GRCm39) R48C probably damaging Het
Kdm3a G T 6: 71,588,570 (GRCm39) Q480K probably benign Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Magea6 T C X: 153,707,741 (GRCm39) D105G probably benign Het
Nop53 C A 7: 15,673,197 (GRCm39) probably benign Het
Or14a260 A T 7: 85,984,789 (GRCm39) F272I probably benign Het
Or1j10 T C 2: 36,267,325 (GRCm39) L179P possibly damaging Het
Pgghg A G 7: 140,524,894 (GRCm39) T352A possibly damaging Het
Sspo C A 6: 48,461,762 (GRCm39) T3609N probably damaging Het
Sulf1 T A 1: 12,908,587 (GRCm39) Y533* probably null Het
Thsd7b A G 1: 129,540,932 (GRCm39) S346G probably benign Het
Tmem161b T A 13: 84,442,863 (GRCm39) L261Q probably damaging Het
Tmem63b T A 17: 45,976,134 (GRCm39) T493S possibly damaging Het
Tmprss11d A T 5: 86,454,164 (GRCm39) C214S probably damaging Het
Trim16 A T 11: 62,724,905 (GRCm39) E144V possibly damaging Het
Unc13d T C 11: 115,961,359 (GRCm39) Y356C probably damaging Het
Urgcp A T 11: 5,667,745 (GRCm39) F198I probably benign Het
Vmn2r111 T C 17: 22,767,320 (GRCm39) I726V possibly damaging Het
Zzz3 A T 3: 152,133,027 (GRCm39) E28D 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
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
R1709:Setd2 UTSW 9 110,378,925 (GRCm39) missense probably benign 0.00
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
Posted On 2015-04-16