Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Setd2'

505460

Institutional Source

Beutler Lab

Gene Symbol

Setd2

Ensembl Gene

ENSMUSG00000044791

Gene Name

SET domain containing 2

Synonyms

4921524K10Rik, KMT3A

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110532597-110618633 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110548665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 516 (R516K)

Ref Sequence

ENSEMBL: ENSMUSP00000116313 (fasta)

Gene Model

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

AlphaFold

E9Q5F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000153838
AA Change: R516K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: R516K

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

unknown
Transcript: ENSMUST00000196814
AA Change: R232K

Predicted Effect

probably benign
Transcript: ENSMUST00000198823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199595

Meta Mutation Damage Score

0.1115

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,956,999 (GRCm38)	V1782A	probably benign	Het
6430550D23Rik	T	C	2: 156,003,230 (GRCm38)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,197,533 (GRCm38)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,106,931 (GRCm38)	T211I	probably damaging	Het
Adss	C	T	1: 177,776,829 (GRCm38)	E153K	probably benign	Het
Ago4	C	A	4: 126,511,487 (GRCm38)	G431V	possibly damaging	Het
Araf	G	T	X: 20,860,100 (GRCm38)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,726,561 (GRCm38)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,689,352 (GRCm38)		probably null	Het
Brap	C	A	5: 121,665,309 (GRCm38)	D173E	probably benign	Het
Brca2	G	T	5: 150,566,978 (GRCm38)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,996,251 (GRCm38)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,940,718 (GRCm38)	S170P	probably benign	Het
Celsr2	T	C	3: 108,393,128 (GRCm38)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,046,385 (GRCm38)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,579,410 (GRCm38)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 120,051,694 (GRCm38)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 32,906,317 (GRCm38)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,615,276 (GRCm38)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,625,923 (GRCm38)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,621,566 (GRCm38)		probably null	Het
Dpp6	A	G	5: 27,049,628 (GRCm38)	T14A	probably damaging	Het
Echs1	C	A	7: 140,113,069 (GRCm38)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,530,307 (GRCm38)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,140,397 (GRCm38)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,316,912 (GRCm38)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,206,079 (GRCm38)	K211N	probably benign	Het
Fchsd2	A	G	7: 101,259,776 (GRCm38)		probably null	Het
Fen1	A	G	19: 10,200,687 (GRCm38)	V131A	probably damaging	Het
Fetub	C	T	16: 22,932,331 (GRCm38)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,657,240 (GRCm38)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,619,306 (GRCm38)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,933,548 (GRCm38)	F379L	probably damaging	Het
Gcnt2	A	C	13: 40,861,241 (GRCm38)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,986,140 (GRCm38)	C251S	probably damaging	Het
Gpam	G	A	19: 55,070,985 (GRCm38)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,327,566 (GRCm38)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,145,601 (GRCm38)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,182,226 (GRCm38)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,645,523 (GRCm38)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,793,005 (GRCm38)	I66N	probably damaging	Het
Klk1b27	A	T	7: 44,054,550 (GRCm38)	H39L	probably benign	Het
Kmo	C	T	1: 175,659,695 (GRCm38)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,235,058 (GRCm38)		probably null	Het
Magi3	G	C	3: 104,015,697 (GRCm38)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,389,244 (GRCm38)	G81C	probably damaging	Het
Med15	G	A	16: 17,652,745 (GRCm38)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,256,754 (GRCm38)	V1453A	probably benign	Het
Myh13	A	G	11: 67,362,501 (GRCm38)	M1488V	probably benign	Het
Naip2	A	T	13: 100,152,137 (GRCm38)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,702,855 (GRCm38)	M181K	probably damaging	Het
Npepps	A	T	11: 97,213,790 (GRCm38)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,770,537 (GRCm38)	F301S	probably damaging	Het
Nynrin	G	A	14: 55,868,028 (GRCm38)	V832I	probably damaging	Het
Olfr1046	T	A	2: 86,217,222 (GRCm38)	T163S	possibly damaging	Het
Olfr1508	T	A	14: 52,463,895 (GRCm38)	Y38F	probably damaging	Het
Olfr320	A	T	11: 58,684,004 (GRCm38)	T44S	possibly damaging	Het
Olfr342	T	A	2: 36,528,341 (GRCm38)	C310S	probably benign	Het
Olfr61	C	A	7: 140,638,433 (GRCm38)	S244Y	probably damaging	Het
Phrf1	T	A	7: 141,237,673 (GRCm38)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,230,558 (GRCm38)		probably null	Het
Polr2a	G	A	11: 69,744,226 (GRCm38)	T569M	probably damaging	Het
Prr29	A	G	11: 106,376,632 (GRCm38)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908 (GRCm38)		probably benign	Homo
Sc5d	T	C	9: 42,255,421 (GRCm38)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,764,828 (GRCm38)		probably null	Het
Serpinb11	T	A	1: 107,372,242 (GRCm38)	I106N	probably damaging	Het
Sirt2	G	T	7: 28,787,797 (GRCm38)	C291F	probably damaging	Het
Stac3	T	C	10: 127,508,175 (GRCm38)	V314A	probably damaging	Het
Stat6	C	T	10: 127,657,712 (GRCm38)		probably null	Het
Strn3	A	G	12: 51,610,107 (GRCm38)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,634,214 (GRCm38)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,650,179 (GRCm38)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,487,610 (GRCm38)	T129K	probably damaging	Het
Triml1	G	T	8: 43,138,756 (GRCm38)	Y188*	probably null	Het
Trpc7	A	G	13: 56,773,892 (GRCm38)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,870,044 (GRCm38)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,239,272 (GRCm38)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,672,902 (GRCm38)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,584,651 (GRCm38)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,086,662 (GRCm38)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,783,161 (GRCm38)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,814,971 (GRCm38)	Y426H	probably benign	Het

Other mutations in Setd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R2117:Setd2	UTSW	9	110,604,144 (GRCm38)	frame shift	probably null
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
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'- GAGAGCTCAGACTCTGAAGATG -3'
(R):5'- CTTTTGAACAAGGAGTCTGCAAAC -3'

Sequencing Primer
(F):5'- GCTCAGACTCTGAAGATGAGTATAAG -3'
(R):5'- TTGAACAAGGAGTCTGCAAACTAAAC -3'

Posted On

2018-02-28