Mutagenetix > Incidental Mutation

Incidental Mutation 'R7643:Setd2'

628226

Institutional Source

Beutler Lab

Gene Symbol

Setd2

Ensembl Gene

ENSMUSG00000044791

Gene Name

SET domain containing 2

Synonyms

KMT3A, 4921524K10Rik

MMRRC Submission

045700-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110361665-110447701 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 110396908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000153838]

AlphaFold

E9Q5F9

Predicted Effect

probably null
Transcript: ENSMUST00000153838

SMART Domains

Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000198823

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	G	9: 15,209,156 (GRCm39)	F46S	probably damaging	Het
Acaca	T	C	11: 84,229,182 (GRCm39)	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,030,795 (GRCm39)	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,491,449 (GRCm39)	Q1050L	probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,363,911 (GRCm39)	V395A	probably benign	Het
Ap3b2	T	C	7: 81,126,820 (GRCm39)	K310R	probably benign	Het
Bnc2	T	C	4: 84,424,811 (GRCm39)	D123G	probably benign	Het
Bst1	G	A	5: 43,997,791 (GRCm39)	M263I	probably benign	Het
Ccdc7a	C	T	8: 129,616,292 (GRCm39)	G937E	probably damaging	Het
Cep290	A	G	10: 100,373,415 (GRCm39)	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,481,323 (GRCm39)	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,641,973 (GRCm39)	H1203L	probably benign	Het
Emc7	A	G	2: 112,285,624 (GRCm39)	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,388,369 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,672,924 (GRCm39)	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,107,536 (GRCm39)	V180L	probably benign	Het
Gbp2b	G	T	3: 142,309,370 (GRCm39)	Q160H	probably benign	Het
Gm19965	C	G	1: 116,749,959 (GRCm39)	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,810,114 (GRCm39)	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,538,179 (GRCm39)	Y303*	probably null	Het
Greb1	T	C	12: 16,761,997 (GRCm39)	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950 (GRCm39)	N36S	probably benign	Het
Hacd1	T	C	2: 14,049,602 (GRCm39)	I119V	probably damaging	Het
Ing5	T	A	1: 93,740,155 (GRCm39)	D101E	probably damaging	Het
Irak4	T	A	15: 94,456,709 (GRCm39)	N297K	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Klf5	A	G	14: 99,550,614 (GRCm39)	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,869,024 (GRCm39)	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,473,564 (GRCm39)		probably null	Het
Marchf4	T	G	1: 72,486,379 (GRCm39)	Q266H	probably damaging	Het
Med23	A	G	10: 24,781,863 (GRCm39)	T1056A	probably benign	Het
Megf11	T	C	9: 64,613,914 (GRCm39)	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,583,701 (GRCm39)	L85I	probably benign	Het
Nlgn2	G	T	11: 69,718,711 (GRCm39)	Q290K	probably damaging	Het
Nox4	A	T	7: 86,972,962 (GRCm39)	E323V	probably damaging	Het
Nup93	T	C	8: 95,013,247 (GRCm39)		probably null	Het
Or10d5b	T	A	9: 39,886,117 (GRCm39)	M1L	unknown	Het
Or14a257	C	T	7: 86,138,776 (GRCm39)		probably null	Het
Or51e1	C	T	7: 102,358,745 (GRCm39)	T93I	probably benign	Het
Otop3	T	C	11: 115,230,474 (GRCm39)	L117P	probably damaging	Het
Pde6c	C	A	19: 38,129,869 (GRCm39)	Q260K	probably damaging	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Qser1	A	T	2: 104,617,322 (GRCm39)	Y1163*	probably null	Het
Rbm12	A	T	2: 155,940,137 (GRCm39)	I45N	unknown	Het
Rictor	T	A	15: 6,798,750 (GRCm39)	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325 (GRCm38)	S83*	probably null	Het
Sel1l3	C	T	5: 53,280,504 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,143,319 (GRCm39)	T759A	probably benign	Het
Spon2	T	A	5: 33,374,800 (GRCm39)	E2V	probably benign	Het
Tdrd1	T	C	19: 56,826,140 (GRCm39)	S144P	probably damaging	Het
Tex15	A	C	8: 34,065,148 (GRCm39)	Y1526S	probably damaging	Het
Tex55	A	G	16: 38,648,225 (GRCm39)	Y295H	probably benign	Het
Tnfrsf21	T	C	17: 43,348,807 (GRCm39)	S140P	probably benign	Het
Trav6-2	T	A	14: 52,904,899 (GRCm39)	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,078,295 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,565,171 (GRCm39)	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,214,899 (GRCm39)	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333 (GRCm39)	S211T	probably benign	Het
Zcchc4	T	C	5: 52,965,635 (GRCm39)	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,343,215 (GRCm39)	R1811K	probably benign	Het
Zfp599	G	T	9: 22,161,188 (GRCm39)	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,043,452 (GRCm39)	M108K	probably damaging	Het

Other mutations in Setd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GTAGGCATTTCTATTAGAAGCAGG -3'
(R):5'- ACCTGCACATTTGGCAGAGC -3'

Sequencing Primer
(F):5'- AACATGTTGTCACTCTTACATGC -3'
(R):5'- AGAGCCGTGTCCATCCC -3'

Posted On

2020-02-11