Mutagenetix > Incidental Mutation

Incidental Mutation 'R7359:Setd2'

571203

Institutional Source

Beutler Lab

Gene Symbol

Setd2

Ensembl Gene

ENSMUSG00000044791

Gene Name

SET domain containing 2

Synonyms

KMT3A, 4921524K10Rik

MMRRC Submission

045445-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R7359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110361665-110447701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110392012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 200 (D200V)

Gene Model

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

AlphaFold

E9Q5F9

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: D1590V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (87/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,348 (GRCm39)	V1233A	possibly damaging	Het
Abcc9	G	A	6: 142,617,408 (GRCm39)	T552I	probably damaging	Het
Adgrf4	T	C	17: 42,978,003 (GRCm39)	I447V	possibly damaging	Het
Akirin2	T	A	4: 34,565,944 (GRCm39)	D178E	probably damaging	Het
Arhgap12	T	C	18: 6,065,709 (GRCm39)	E359G	possibly damaging	Het
Arhgef5	A	C	6: 43,257,216 (GRCm39)	T1256P	probably damaging	Het
Avpr1a	A	C	10: 122,285,283 (GRCm39)	I192L	possibly damaging	Het
B4galnt4	A	G	7: 140,651,197 (GRCm39)	H926R	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc68	C	T	18: 70,089,123 (GRCm39)	A222V	probably benign	Het
Cdc23	T	C	18: 34,774,394 (GRCm39)	Y295C	probably benign	Het
Ceacam10	T	C	7: 24,480,432 (GRCm39)	Y188H	unknown	Het
Cfap57	T	A	4: 118,456,162 (GRCm39)	T511S	probably benign	Het
Cftr	T	C	6: 18,221,623 (GRCm39)	V245A	probably benign	Het
Cit	A	G	5: 116,064,633 (GRCm39)	D505G	probably damaging	Het
Cmah	T	G	13: 24,652,539 (GRCm39)	N556K	probably benign	Het
Cspg4b	T	C	13: 113,478,964 (GRCm39)	S1503P		Het
D430041D05Rik	C	A	2: 104,044,482 (GRCm39)	D839Y	probably damaging	Het
Dek	T	C	13: 47,259,065 (GRCm39)	D47G	unknown	Het
Des	C	T	1: 75,337,596 (GRCm39)	R179C	probably damaging	Het
Desi2	A	G	1: 178,015,509 (GRCm39)	N10D	probably benign	Het
Dlg5	T	C	14: 24,214,615 (GRCm39)	N679S	probably damaging	Het
Dnajc24	T	C	2: 105,832,293 (GRCm39)	Y30C	probably damaging	Het
Dock10	T	A	1: 80,687,065 (GRCm39)	H34L	probably benign	Het
Dock5	A	G	14: 68,003,337 (GRCm39)	V1586A	probably benign	Het
Dpy19l4	A	G	4: 11,273,125 (GRCm39)	V576A	probably benign	Het
Dusp6	A	G	10: 99,099,927 (GRCm39)	E125G	probably benign	Het
Dync1h1	T	C	12: 110,591,036 (GRCm39)	Y1035H	probably benign	Het
Dysf	G	A	6: 84,172,306 (GRCm39)		probably null	Het
En1	A	G	1: 120,534,817 (GRCm39)	K369E	unknown	Het
F2r	A	G	13: 95,741,194 (GRCm39)	Y114H	probably damaging	Het
Fam184a	T	C	10: 53,575,318 (GRCm39)	Y97C	probably damaging	Het
Fggy	T	C	4: 95,657,717 (GRCm39)	V286A	probably benign	Het
Flot2	T	C	11: 77,949,383 (GRCm39)	I322T	probably benign	Het
Fndc1	A	T	17: 8,032,318 (GRCm39)		probably null	Het
Frs3	A	G	17: 48,010,450 (GRCm39)	D28G	probably damaging	Het
Gimap3	C	T	6: 48,742,280 (GRCm39)	D217N	probably benign	Het
Gm128	A	G	3: 95,147,934 (GRCm39)	V120A	probably benign	Het
Gm17190	T	C	13: 96,218,970 (GRCm39)	V102A	probably damaging	Het
Gm17268	A	G	11: 81,919,057 (GRCm39)	V20A	unknown	Het
Grsf1	A	T	5: 88,813,423 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,278,395 (GRCm39)	Y1699F	probably benign	Het
Hnmt	T	A	2: 23,938,731 (GRCm39)	M36L	probably benign	Het
Hoxd1	C	A	2: 74,594,447 (GRCm39)	T234K	probably damaging	Het
Hydin	C	G	8: 111,232,733 (GRCm39)	S1679R	probably damaging	Het
Jag1	T	C	2: 136,926,226 (GRCm39)	R1059G	probably benign	Het
Kbtbd11	T	C	8: 15,078,858 (GRCm39)	W486R	probably damaging	Het
Kcnh6	A	G	11: 105,909,789 (GRCm39)	D438G	possibly damaging	Het
Lgals4	T	G	7: 28,540,724 (GRCm39)	F276V	probably benign	Het
Lrp6	G	T	6: 134,427,923 (GRCm39)	Y1556*	probably null	Het
Mpdz	G	A	4: 81,274,632 (GRCm39)	L855F	probably benign	Het
Muc16	A	T	9: 18,554,316 (GRCm39)	D3992E	unknown	Het
Npc1	T	C	18: 12,328,237 (GRCm39)	N1024S	probably benign	Het
Nsfl1c	A	G	2: 151,336,279 (GRCm39)	T18A	probably benign	Het
Or12e8	T	A	2: 87,188,555 (GRCm39)	L256I	possibly damaging	Het
Or12k5	A	T	2: 36,895,449 (GRCm39)	M59K	probably damaging	Het
Or2g7	G	A	17: 38,378,506 (GRCm39)	W148*	probably null	Het
Or8g31-ps1	T	C	9: 39,276,775 (GRCm39)	*307R	probably null	Het
Pcdh15	A	T	10: 74,420,048 (GRCm39)	K1235N	probably damaging	Het
Pcif1	A	G	2: 164,726,251 (GRCm39)	K51E	probably damaging	Het
Pde1b	G	A	15: 103,429,752 (GRCm39)	D82N	probably damaging	Het
Phf23	T	A	11: 69,889,467 (GRCm39)	V167E	possibly damaging	Het
Pik3c2g	T	C	6: 139,913,620 (GRCm39)	V1006A	unknown	Het
Pira12	T	A	7: 3,901,103 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,452,882 (GRCm39)	V3936F	probably damaging	Het
Pnpla1	T	C	17: 29,100,159 (GRCm39)	V342A	probably benign	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppl	A	G	16: 4,907,205 (GRCm39)	L1030P	possibly damaging	Het
Prelid1	A	T	13: 55,469,088 (GRCm39)		probably benign	Het
Racgap1	C	T	15: 99,529,081 (GRCm39)	S264N	probably benign	Het
Rdh13	T	C	7: 4,430,696 (GRCm39)	D289G	probably benign	Het
Rtp3	T	C	9: 110,815,364 (GRCm39)	I334V	probably benign	Het
Simc1	A	G	13: 54,651,731 (GRCm39)	S15G	unknown	Het
Sirpb1c	A	T	3: 15,887,389 (GRCm39)	M150K	probably benign	Het
Smoc1	T	A	12: 81,197,475 (GRCm39)	D202E	probably damaging	Het
Spata31d1b	A	G	13: 59,860,304 (GRCm39)	Y59C	probably damaging	Het
Stard9	A	G	2: 120,528,761 (GRCm39)	T1673A	probably damaging	Het
Tbc1d31	T	A	15: 57,779,504 (GRCm39)	H72Q	probably benign	Het
Tgfbrap1	C	A	1: 43,114,693 (GRCm39)	V136L	probably damaging	Het
Top2b	A	G	14: 16,407,376 (GRCm38)	N720S	probably null	Het
Vmn1r11	T	C	6: 57,115,184 (GRCm39)	S283P	probably damaging	Het
Vmn1r19	A	G	6: 57,382,080 (GRCm39)	H211R	probably damaging	Het
Vmn2r44	A	T	7: 8,370,538 (GRCm39)	M836K	probably benign	Het
Vmn2r61	A	C	7: 41,915,407 (GRCm39)	H118P	probably benign	Het
Vps33a	A	G	5: 123,696,696 (GRCm39)	I319T	probably benign	Het
Vwf	T	A	6: 125,543,220 (GRCm39)	S151T		Het
Zfp423	T	C	8: 88,508,871 (GRCm39)	N491S	possibly damaging	Het
Zfp626	T	C	7: 27,507,660 (GRCm39)	F23S	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
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'- GCAGTCAGCCATTTGTTACTTTG -3'
(R):5'- GTGATAATTGGGCATGCACTC -3'

Sequencing Primer
(F):5'- GTCAGCCATTTGTTACTTTGTTATAG -3'
(R):5'- GGGCATGCACTCTATTTTTAGAATTC -3'

Posted On

2019-09-13