Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02828:Setd2'

361277

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Setd2

Ensembl Gene

ENSMUSG00000044791

Gene Name

SET domain containing 2

Synonyms

KMT3A, 4921524K10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

IGL02828

Quality Score

Status

Chromosome

Chromosomal Location

110361665-110447701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110390282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1579 (Y1579F)

Ref Sequence

ENSEMBL: ENSMUSP00000116313 (fasta)

Gene Model

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

AlphaFold

E9Q5F9

Predicted Effect

probably benign
Transcript: ENSMUST00000153838
AA Change: Y1579F

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116313
Gene: ENSMUSG00000044791
AA Change: Y1579F

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

noncoding transcript
Transcript: ENSMUST00000195911

Predicted Effect

probably benign
Transcript: ENSMUST00000196814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198587

Predicted Effect

probably benign
Transcript: ENSMUST00000198823
AA Change: Y186F

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,871,720 (GRCm39)	T86I	probably damaging	Het
Adam28	C	T	14: 68,884,319 (GRCm39)	S93N	possibly damaging	Het
Adamts6	T	C	13: 104,433,978 (GRCm39)	Y136H	probably damaging	Het
Ahdc1	A	T	4: 132,790,232 (GRCm39)	K491I	possibly damaging	Het
Alb	C	A	5: 90,615,247 (GRCm39)	A253E	probably benign	Het
Asb18	A	G	1: 89,923,932 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,718 (GRCm39)	N1909K	possibly damaging	Het
Atosa	G	T	9: 74,913,714 (GRCm39)	A123S	probably damaging	Het
Atp12a	T	A	14: 56,613,599 (GRCm39)	V457D	possibly damaging	Het
Atxn7	G	T	14: 14,090,056 (GRCm38)	G334W	probably damaging	Het
Catsperb	T	A	12: 101,447,041 (GRCm39)	I223K	probably benign	Het
Clec2h	T	A	6: 128,652,885 (GRCm39)	H217Q	probably benign	Het
Col6a3	T	C	1: 90,724,281 (GRCm39)	E1416G	probably damaging	Het
Dcaf1	T	A	9: 106,721,501 (GRCm39)		probably benign	Het
Ddr2	C	T	1: 169,816,082 (GRCm39)	A542T	probably benign	Het
Ebf3	T	C	7: 136,909,247 (GRCm39)	N174S	probably damaging	Het
Ecpas	A	G	4: 58,875,512 (GRCm39)	S151P	possibly damaging	Het
Ephb2	A	G	4: 136,498,461 (GRCm39)	I206T	probably benign	Het
Fbxo39	T	A	11: 72,208,041 (GRCm39)	I131N	possibly damaging	Het
Fdxacb1	G	A	9: 50,682,864 (GRCm39)	V276I	possibly damaging	Het
Gpr146	A	T	5: 139,378,576 (GRCm39)	Y126F	probably damaging	Het
Hivep3	A	T	4: 119,954,929 (GRCm39)	K1082*	probably null	Het
Ifnar1	T	A	16: 91,302,304 (GRCm39)		probably null	Het
Kap	A	G	6: 133,829,057 (GRCm39)	V25A	probably benign	Het
Klhl2	C	A	8: 65,232,791 (GRCm39)	R162L	probably damaging	Het
Kmt2a	A	G	9: 44,733,244 (GRCm39)		probably benign	Het
Lrp4	A	G	2: 91,305,639 (GRCm39)	N303S	probably benign	Het
Mtpap	A	T	18: 4,386,207 (GRCm39)	N276Y	probably damaging	Het
Nlrp5	G	A	7: 23,120,885 (GRCm39)	G684S	possibly damaging	Het
Or10g3b	T	C	14: 52,586,799 (GRCm39)	R235G	probably benign	Het
Or14a256	A	T	7: 86,265,277 (GRCm39)	V192E	possibly damaging	Het
Pak2	A	T	16: 31,840,674 (GRCm39)	L469H	probably damaging	Het
Pcdhb15	T	A	18: 37,606,903 (GRCm39)	L45Q	probably damaging	Het
Pi4ka	A	T	16: 17,098,575 (GRCm39)		probably benign	Het
Picalm	A	G	7: 89,826,709 (GRCm39)	T386A	probably benign	Het
Pkd1l2	T	C	8: 117,756,298 (GRCm39)	T1645A	probably benign	Het
Plekhm2	A	T	4: 141,356,941 (GRCm39)	V754E	probably damaging	Het
Pramel25	A	T	4: 143,521,695 (GRCm39)	D437V	possibly damaging	Het
Rbl1	T	A	2: 157,041,384 (GRCm39)	E81V	probably damaging	Het
Rbp4	C	A	19: 38,106,717 (GRCm39)		probably null	Het
Rdh12	T	C	12: 79,265,459 (GRCm39)	V211A	probably damaging	Het
Ret	G	A	6: 118,153,168 (GRCm39)	A500V	probably benign	Het
Rin1	T	C	19: 5,103,118 (GRCm39)	F469S	possibly damaging	Het
Rmc1	C	A	18: 12,322,278 (GRCm39)	A577D	possibly damaging	Het
Rsc1a1	G	T	4: 141,411,479 (GRCm39)	P478T	probably damaging	Het
Sh3bp5	A	T	14: 31,156,106 (GRCm39)		probably benign	Het
Slc22a13	G	T	9: 119,024,773 (GRCm39)	L235I	probably benign	Het
Slc6a11	A	T	6: 114,111,948 (GRCm39)	T172S	possibly damaging	Het
Slitrk1	G	T	14: 109,149,048 (GRCm39)	S554R	possibly damaging	Het
Tg	G	A	15: 66,554,243 (GRCm39)	G553S	probably damaging	Het
Tmem26	G	A	10: 68,611,215 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,754,820 (GRCm39)	L1222Q	probably benign	Het
Vdac2	T	C	14: 21,893,957 (GRCm39)	V249A	probably benign	Het
Vmn1r170	T	C	7: 23,305,943 (GRCm39)	V115A	probably damaging	Het
Vmn2r105	A	G	17: 20,429,345 (GRCm39)	V577A	possibly damaging	Het
Xpo1	A	G	11: 23,232,593 (GRCm39)	E371G	probably damaging	Het
Zfp106	A	C	2: 120,362,178 (GRCm39)	H980Q	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
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
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

2015-12-18