Mutagenetix > Incidental Mutation

Incidental Mutation 'P0028:Setd2'

17808

Institutional Source

Beutler Lab

Gene Symbol

Setd2

Ensembl Gene

ENSMUSG00000044791

Gene Name

SET domain containing 2

Synonyms

KMT3A, 4921524K10Rik

MMRRC Submission

038281-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

P0028 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

110361665-110447701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110403022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1888 (T1888A)

Ref Sequence

ENSEMBL: ENSMUSP00000116313 (fasta)

Gene Model

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

AlphaFold

E9Q5F9

Predicted Effect

probably benign
Transcript: ENSMUST00000153838
AA Change: T1888A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: T1888A

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

unknown
Transcript: ENSMUST00000197655
AA Change: T24A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198587

Predicted Effect

unknown
Transcript: ENSMUST00000200460
AA Change: T111A

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 85.4%
3x: 79.0%
10x: 59.9%
20x: 38.6%

Validation Efficiency

78% (43/55)

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap17	G	A	7: 122,885,900 (GRCm39)		probably benign	Het
Arhgef10	C	T	8: 14,978,925 (GRCm39)	T64M	possibly damaging	Het
Cc2d2a	A	G	5: 43,841,541 (GRCm39)	R186G	probably benign	Het
Celsr1	G	A	15: 85,806,436 (GRCm39)	R974W	probably damaging	Het
Cutc	A	G	19: 43,753,408 (GRCm39)	R184G	possibly damaging	Het
Ddx24	T	C	12: 103,374,634 (GRCm39)	N850S	probably benign	Het
Dock1	T	G	7: 134,601,053 (GRCm39)		probably benign	Het
Dusp12	A	T	1: 170,707,386 (GRCm39)	L234*	probably null	Het
Fam171b	T	A	2: 83,683,783 (GRCm39)	V100E	probably damaging	Het
Mical3	A	T	6: 121,001,650 (GRCm39)	M614K	probably benign	Het
Myh6	C	T	14: 55,201,094 (GRCm39)	V123I	probably benign	Het
Nbeal1	A	G	1: 60,331,096 (GRCm39)	Y2235C	probably damaging	Het
Prickle1	A	G	15: 93,398,783 (GRCm39)	S682P	probably damaging	Het
Raf1	G	A	6: 115,608,166 (GRCm39)		probably benign	Het
Rb1	C	A	14: 73,502,068 (GRCm39)	R439L	probably damaging	Het
Rcsd1	G	A	1: 165,483,566 (GRCm39)	R142W	probably damaging	Het
Rtp1	G	C	16: 23,248,116 (GRCm39)	W63S	probably damaging	Het
Srp68	C	A	11: 116,151,746 (GRCm39)	Q283H	probably damaging	Het
Unc13b	T	A	4: 43,256,225 (GRCm39)	C3927S	probably damaging	Het
Zfp831	A	G	2: 174,487,139 (GRCm39)	K605E	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
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
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

Posted On

2013-02-25