Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Setd2'

436537

Institutional Source

Beutler Lab

Gene Symbol

Setd2

Ensembl Gene

ENSMUSG00000044791

Gene Name

SET domain containing 2

Synonyms

KMT3A, 4921524K10Rik

MMRRC Submission

043117-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R5560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110361665-110447701 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 110378907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 623 (Y623*)

Gene Model

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

AlphaFold

E9Q5F9

Predicted Effect

probably null
Transcript: ENSMUST00000153838
AA Change: Y907*

SMART Domains

Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: Y907*

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 null
Transcript: ENSMUST00000196814
AA Change: Y623*

Predicted Effect

probably benign
Transcript: ENSMUST00000198823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199595

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,353,778 (GRCm39)	W188R	possibly damaging	Het
Agrn	T	C	4: 156,262,954 (GRCm39)	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,520,024 (GRCm39)	S570P	probably benign	Het
Ano9	C	G	7: 140,690,395 (GRCm39)	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,541,744 (GRCm39)	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,751,319 (GRCm39)	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,220,224 (GRCm39)	D40E	possibly damaging	Het
Capn12	A	G	7: 28,582,285 (GRCm39)	D133G	probably benign	Het
Ccna1	A	T	3: 54,955,990 (GRCm39)	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,632,239 (GRCm39)	Y250N	probably damaging	Het
Cep112	A	C	11: 108,328,061 (GRCm39)	K98Q	probably damaging	Het
Chst13	T	C	6: 90,295,251 (GRCm39)	D54G	probably damaging	Het
Clstn2	G	T	9: 97,351,872 (GRCm39)	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,073,261 (GRCm39)	L581M	probably damaging	Het
Cog3	T	A	14: 75,966,833 (GRCm39)	M446L	probably damaging	Het
Dennd2c	T	A	3: 103,068,871 (GRCm39)	I756K	probably damaging	Het
Dennd3	T	G	15: 73,404,744 (GRCm39)	L273R	probably damaging	Het
Dhx34	C	A	7: 15,952,466 (GRCm39)	R53L	probably benign	Het
Dnah9	G	A	11: 65,772,566 (GRCm39)	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dusp6	A	G	10: 99,102,103 (GRCm39)	Y217C	probably damaging	Het
Dync2i1	T	C	12: 116,181,733 (GRCm39)	S769G	probably damaging	Het
Dyrk1b	G	A	7: 27,883,678 (GRCm39)	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,505,645 (GRCm39)	C1009S	probably benign	Het
Frmpd1	A	T	4: 45,243,697 (GRCm39)	T57S	probably damaging	Het
Gask1a	T	C	9: 121,807,289 (GRCm39)	F478L	possibly damaging	Het
Gjc2	A	G	11: 59,068,185 (GRCm39)	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,842,149 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,831,101 (GRCm39)	I734V	possibly damaging	Het
H1f2	A	G	13: 23,923,390 (GRCm39)	S187G	probably benign	Het
Herc1	A	T	9: 66,358,401 (GRCm39)	H2494L	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs1	A	G	13: 120,161,351 (GRCm39)		probably null	Het
Invs	A	T	4: 48,416,084 (GRCm39)	T655S	probably benign	Het
Ipo9	G	A	1: 135,329,983 (GRCm39)	L486F	probably damaging	Het
Katnip	T	C	7: 125,453,733 (GRCm39)	V1150A	probably benign	Het
Kcnj6	A	T	16: 94,633,824 (GRCm39)	L96M	probably benign	Het
Lfng	A	G	5: 140,600,022 (GRCm39)	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,235,953 (GRCm39)	L139P	probably damaging	Het
Madd	C	A	2: 90,993,890 (GRCm39)	V923L	probably damaging	Het
Mical1	A	T	10: 41,354,961 (GRCm39)	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,199,590 (GRCm39)	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,023,105 (GRCm39)	K6R	probably benign	Het
Mug1	T	A	6: 121,838,032 (GRCm39)	C421S	probably damaging	Het
Myo18b	A	G	5: 113,016,161 (GRCm39)	I696T	probably damaging	Het
Naf1	T	C	8: 67,336,197 (GRCm39)	Y375H	probably damaging	Het
Nsf	T	A	11: 103,754,081 (GRCm39)	E485V	possibly damaging	Het
Nup188	A	G	2: 30,199,897 (GRCm39)	D307G	probably damaging	Het
Ocel1	C	A	8: 71,825,122 (GRCm39)	P108T	probably damaging	Het
Oip5	A	G	2: 119,443,540 (GRCm39)	S177P	probably damaging	Het
Omg	A	G	11: 79,392,584 (GRCm39)	W425R	possibly damaging	Het
Or1ad8	A	C	11: 50,898,350 (GRCm39)	I184L	possibly damaging	Het
Or1l4	A	G	2: 37,091,942 (GRCm39)	I230V	probably benign	Het
Or5an10	G	A	19: 12,276,008 (GRCm39)	Q163*	probably null	Het
Or8g26	A	C	9: 39,095,480 (GRCm39)	E2A	probably benign	Het
Pikfyve	A	G	1: 65,292,566 (GRCm39)	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,522,172 (GRCm39)	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,528,480 (GRCm39)	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,483,070 (GRCm39)	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,438,486 (GRCm39)	P91S	probably damaging	Het
Rnf10	A	G	5: 115,388,057 (GRCm39)	F367S	probably damaging	Het
Rnft1	A	T	11: 86,384,022 (GRCm39)	R307S	probably benign	Het
Ryr3	A	T	2: 112,585,222 (GRCm39)	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,426,137 (GRCm39)	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,389,352 (GRCm39)	A123E	probably damaging	Het
Slc49a3	A	T	5: 108,596,729 (GRCm39)	M1K	probably null	Het
Spmap2l	A	G	5: 77,164,333 (GRCm39)	D112G	possibly damaging	Het
Tbl2	C	T	5: 135,186,445 (GRCm39)	Q216*	probably null	Het
Tnc	A	G	4: 63,926,946 (GRCm39)	I860T	probably damaging	Het
Trafd1	T	C	5: 121,511,366 (GRCm39)	K484R	possibly damaging	Het
Trank1	T	C	9: 111,219,635 (GRCm39)	V2124A	probably damaging	Het
Trpm4	A	T	7: 44,959,756 (GRCm39)	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,252,688 (GRCm39)	T451A	probably benign	Het
Uba6	A	T	5: 86,279,119 (GRCm39)	C668S	probably damaging	Het
Ubxn11	T	C	4: 133,853,935 (GRCm39)	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,877,723 (GRCm39)	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,401,150 (GRCm39)	I90L	probably damaging	Het
Zfp330	T	C	8: 83,491,585 (GRCm39)	E196G	probably benign	Het
Zfp746	A	G	6: 48,059,108 (GRCm39)	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,420,694 (GRCm39)	E85G	possibly 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
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'- TAATAGGGAGCCGACAGACC -3'
(R):5'- GTTCCTCATCTAAGGGGATTTCTGG -3'

Sequencing Primer
(F):5'- AGCAGAGCATTGGTAGCACTAGTTC -3'
(R):5'- CATCTAAGGGGATTTCTGGTCTTCC -3'

Posted On

2016-10-24