Mutagenetix > Incidental Mutation

Incidental Mutation 'R0408:Setd2'

40111

Institutional Source

Beutler Lab

Gene Symbol

Setd2

Ensembl Gene

ENSMUSG00000044791

Gene Name

SET domain containing 2

Synonyms

KMT3A, 4921524K10Rik

MMRRC Submission

038610-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R0408 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

110361665-110447701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110423310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 344 (P344S)

Gene Model

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

AlphaFold

E9Q5F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000153838
AA Change: P2122S

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

SMART Domains

Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: P2122S

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: ENSMUST00000197655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198697

Predicted Effect

probably damaging
Transcript: ENSMUST00000200460
AA Change: P344S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,903,446 (GRCm39)	N1032K	probably damaging	Het
Abcc8	A	G	7: 45,756,457 (GRCm39)	I1416T	probably damaging	Het
Aco2	T	C	15: 81,797,319 (GRCm39)		probably null	Het
Akap13	C	T	7: 75,396,544 (GRCm39)	L2514F	probably damaging	Het
Aldh1a3	A	G	7: 66,055,798 (GRCm39)	V331A	probably damaging	Het
Arid3a	T	A	10: 79,786,667 (GRCm39)	D473E	probably benign	Het
Atg9a	A	G	1: 75,161,939 (GRCm39)	S536P	probably damaging	Het
Atxn7	A	T	14: 14,100,317 (GRCm38)	S668C	probably damaging	Het
Bcar3	A	T	3: 122,302,033 (GRCm39)	I243F	probably damaging	Het
Bend6	G	A	1: 33,901,834 (GRCm39)	P183S	probably damaging	Het
Bfsp2	A	T	9: 103,357,299 (GRCm39)	S43T	probably benign	Het
Camk4	G	A	18: 33,262,845 (GRCm39)	D136N	probably damaging	Het
Ceacam3	G	T	7: 16,885,808 (GRCm39)		probably benign	Het
Chrm3	T	C	13: 9,927,969 (GRCm39)	I356V	probably benign	Het
Clec9a	T	A	6: 129,396,532 (GRCm39)	I133N	possibly damaging	Het
Ctnnd2	T	C	15: 30,634,823 (GRCm39)	L157P	probably damaging	Het
Ddhd2	T	C	8: 26,229,614 (GRCm39)		probably null	Het
Def8	T	C	8: 124,186,656 (GRCm39)	V436A	probably damaging	Het
Dipk1c	T	A	18: 84,738,488 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,518,193 (GRCm39)	K1293R	probably benign	Het
Dync1h1	T	G	12: 110,598,126 (GRCm39)	D1772E	probably benign	Het
Ephx4	G	T	5: 107,561,387 (GRCm39)	G72C	probably damaging	Het
Fam136a	T	G	6: 86,343,707 (GRCm39)	V68G	possibly damaging	Het
Fcgrt	T	C	7: 44,751,363 (GRCm39)	E195G	probably damaging	Het
Fut9	T	A	4: 25,620,319 (GRCm39)	Q165L	possibly damaging	Het
Glb1l	T	C	1: 75,185,479 (GRCm39)	Y77C	probably damaging	Het
Gpr26	T	C	7: 131,569,249 (GRCm39)	V198A	possibly damaging	Het
Gpr26	C	A	7: 131,576,001 (GRCm39)		probably null	Het
Gsdma3	A	C	11: 98,526,164 (GRCm39)	E296A	probably benign	Het
Hyou1	G	T	9: 44,295,989 (GRCm39)	G385W	probably damaging	Het
Il17rb	T	C	14: 29,718,637 (GRCm39)	S482G	probably benign	Het
Itgb4	A	T	11: 115,898,428 (GRCm39)	R1715W	probably damaging	Het
Jak2	A	G	19: 29,263,717 (GRCm39)	S411G	probably benign	Het
Kdm3a	C	T	6: 71,588,663 (GRCm39)	D449N	probably benign	Het
Kifbp	T	C	10: 62,401,832 (GRCm39)	I23M	probably benign	Het
Klhl26	T	C	8: 70,905,130 (GRCm39)	D226G	probably damaging	Het
Klra1	T	A	6: 130,354,737 (GRCm39)	I94F	probably benign	Het
Lama3	A	G	18: 12,589,894 (GRCm39)	D808G	probably benign	Het
Lrp1b	C	T	2: 40,567,603 (GRCm39)	M272I	probably damaging	Het
Masp2	A	G	4: 148,690,496 (GRCm39)	D251G	probably benign	Het
Mob3b	T	C	4: 35,083,991 (GRCm39)	D66G	probably damaging	Het
Myo7a	T	C	7: 97,705,988 (GRCm39)	Q1863R	probably damaging	Het
Naa12	T	C	18: 80,255,029 (GRCm39)	S108P	probably damaging	Het
Or10al3	G	A	17: 38,012,190 (GRCm39)	V210I	probably benign	Het
Or4c103	A	T	2: 88,513,999 (GRCm39)	F26I	probably benign	Het
Pdgfd	T	A	9: 6,293,928 (GRCm39)	Y167*	probably null	Het
Pfas	A	G	11: 68,891,931 (GRCm39)		probably null	Het
Plin1	T	A	7: 79,372,394 (GRCm39)	T393S	probably damaging	Het
Prdm15	A	T	16: 97,636,986 (GRCm39)	N110K	possibly damaging	Het
Prune2	T	A	19: 17,099,674 (GRCm39)	V1726D	probably benign	Het
Sestd1	T	A	2: 77,022,137 (GRCm39)	D518V	probably damaging	Het
Slc22a1	A	T	17: 12,875,828 (GRCm39)	I462N	probably damaging	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d14	G	T	5: 36,728,643 (GRCm39)	T241K	possibly damaging	Het
Uaca	T	C	9: 60,779,141 (GRCm39)	L1176P	possibly damaging	Het
Ube2g1	G	C	11: 72,563,791 (GRCm39)	G52A	probably damaging	Het
Utrn	A	G	10: 12,259,934 (GRCm39)	*957R	probably null	Het
Vmn2r125	A	T	4: 156,703,153 (GRCm39)	E177V	probably damaging	Het
Vmn2r86	A	G	10: 130,282,723 (GRCm39)	F631S	probably damaging	Het
Zc3h13	T	A	14: 75,529,626 (GRCm39)	C42*	probably null	Het
Zc3h14	T	G	12: 98,730,082 (GRCm39)	V13G	probably damaging	Het
Zfat	A	T	15: 68,052,141 (GRCm39)	V551D	probably benign	Het
Zfp618	C	T	4: 63,004,809 (GRCm39)	R70W	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
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

Predicted Primers

PCR Primer
(F):5'- GCTGAGGCATCTTTCCAGCTCC -3'
(R):5'- AGCACACAGGGTCCATGCTAGG -3'

Sequencing Primer
(F):5'- TGAATTTAAGCAATCTCTGCACAACC -3'
(R):5'- CCATGCTAGGTGTGGGCAG -3'

Posted On

2013-05-23