Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03265:Dus2'

415066

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dus2

Ensembl Gene

ENSMUSG00000031901

Gene Name

dihydrouridine synthase 2

Synonyms

2310016K04Rik, Dus2l

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

105991337-106053840 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 106033791 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034375] [ENSMUST00000119736]

Predicted Effect

probably benign
Transcript: ENSMUST00000034375

SMART Domains

Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901

Domain	Start	End	E-Value	Type
Pfam:Dus	15	344	1.8e-54	PFAM
DSRM	370	435	1.03e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119736

SMART Domains

Protein: ENSMUSP00000113781
Gene: ENSMUSG00000031901

Domain	Start	End	E-Value	Type
Pfam:Dus	1	233	8.1e-38	PFAM
DSRM	257	322	1.03e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141374

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,047,991	D4777E	probably benign	Het
Abca8a	C	A	11: 110,053,103	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,637,817	M286T	probably benign	Het
Anapc1	T	C	2: 128,627,197	S1575G	probably damaging	Het
Apba2	A	G	7: 64,695,323	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,849,628	F1641S	probably benign	Het
Atad2b	T	A	12: 5,024,628	H1062Q	probably benign	Het
Bivm	A	G	1: 44,141,845	R396G	probably damaging	Het
Bmi1	T	A	2: 18,681,861	M17K	possibly damaging	Het
Bptf	T	C	11: 107,054,628	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,952,286	E944G	probably damaging	Het
Ces2a	C	T	8: 104,737,443	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,528,848	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,185,718	E91D	probably benign	Het
Epha6	T	C	16: 60,060,231		probably benign	Het
Erap1	A	T	13: 74,664,127	T354S	probably damaging	Het
Fbxo11	T	C	17: 87,992,831	H851R	probably damaging	Het
Gm20532	G	A	2: 26,632,684	C90Y	unknown	Het
Gpr21	T	C	2: 37,518,074	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,259,939		probably benign	Het
Hephl1	G	A	9: 15,060,959	T895I	probably benign	Het
Hey1	T	C	3: 8,664,914	Y161C	probably benign	Het
Kdr	A	G	5: 75,960,773	Y526H	probably damaging	Het
Lpp	A	G	16: 24,761,987	Y151C	probably damaging	Het
Macc1	A	G	12: 119,446,976	N493S	probably benign	Het
Olfr1022	T	A	2: 85,869,150	M186K	possibly damaging	Het
Olfr1101	T	A	2: 86,989,080	Y32F	probably damaging	Het
Olfr315	T	C	11: 58,778,871	V248A	probably damaging	Het
Olfr605	C	A	7: 103,442,448	R225L	probably benign	Het
Olfr786	A	T	10: 129,436,925	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,515,153	D445G	probably damaging	Het
Prkra	T	C	2: 76,640,270	N123D	probably benign	Het
Slc25a33	A	C	4: 149,762,436	L56R	probably damaging	Het
Usp36	A	G	11: 118,264,809	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,754,473	L188*	probably null	Het
Vmn2r12	A	G	5: 109,092,070	V209A	probably benign	Het
Zfp809	A	G	9: 22,243,043	Y352C	probably benign	Het

Other mutations in Dus2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Dus2	APN	8	106025901	splice site	probably null
IGL03000:Dus2	APN	8	106048684	missense	probably damaging	1.00
R0400:Dus2	UTSW	8	106048677	missense	probably benign	0.08
R0733:Dus2	UTSW	8	106046070	critical splice donor site	probably null
R1109:Dus2	UTSW	8	106053482	missense	probably benign	0.16
R1190:Dus2	UTSW	8	106044865	missense	possibly damaging	0.67
R1296:Dus2	UTSW	8	106053043	missense	possibly damaging	0.86
R1819:Dus2	UTSW	8	106051848	missense	probably damaging	1.00
R2038:Dus2	UTSW	8	106048662	missense	probably damaging	0.99
R4282:Dus2	UTSW	8	106048654	missense	probably benign	0.17
R4621:Dus2	UTSW	8	106030442	missense	probably damaging	0.98
R4903:Dus2	UTSW	8	106044805	missense	probably benign	0.00
R5922:Dus2	UTSW	8	106053405	missense	possibly damaging	0.85
R5997:Dus2	UTSW	8	106046066	missense	probably benign	0.14
R7235:Dus2	UTSW	8	106015955	missense	possibly damaging	0.83
R7387:Dus2	UTSW	8	106045987	missense	probably damaging	1.00
R7974:Dus2	UTSW	8	106036020	missense	probably benign
R8088:Dus2	UTSW	8	106030441	missense	probably benign	0.00
R8343:Dus2	UTSW	8	105996013	utr 3 prime	probably benign

Posted On

2016-08-02