Mutagenetix > Incidental Mutation

Incidental Mutation 'R4362:Dus4l'

324957

Institutional Source

Beutler Lab

Gene Symbol

Dus4l

Ensembl Gene

ENSMUSG00000020648

Gene Name

dihydrouridine synthase 4 like

Synonyms

2700089B10Rik, 2310069P03Rik

MMRRC Submission

041671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R4362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31690049-31704825 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31698827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 59 (I59R)

Ref Sequence

ENSEMBL: ENSMUSP00000020977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020977]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020977
AA Change: I59R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020977
Gene: ENSMUSG00000020648
AA Change: I59R

Domain	Start	End	E-Value	Type
Pfam:Dus	30	312	3.3e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219098

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	C	T	7: 28,947,687 (GRCm39)		probably benign	Het
Abcc6	A	G	7: 45,648,256 (GRCm39)		probably benign	Het
Adamts13	G	A	2: 26,894,794 (GRCm39)	C1034Y	probably damaging	Het
Atp2b4	G	T	1: 133,667,669 (GRCm39)	P125Q	possibly damaging	Het
Atp8b1	C	T	18: 64,697,608 (GRCm39)	R412H	probably damaging	Het
Bicc1	ATGTG	ATG	10: 70,779,204 (GRCm39)		probably null	Het
Cap1	G	A	4: 122,756,780 (GRCm39)	P302S	probably benign	Het
Chodl	G	T	16: 78,741,546 (GRCm39)		probably null	Het
Cplane1	T	A	15: 8,300,229 (GRCm39)	S3179T	unknown	Het
Cplx2	A	T	13: 54,526,630 (GRCm39)	T13S	probably benign	Het
Dennd5a	G	A	7: 109,495,550 (GRCm39)	R1194W	probably damaging	Het
Dsc2	T	A	18: 20,183,214 (GRCm39)	D68V	probably damaging	Het
Edc3	C	T	9: 57,620,829 (GRCm39)	P50L	probably damaging	Het
Ext1	G	A	15: 52,970,987 (GRCm39)		probably benign	Het
Fam219a	C	T	4: 41,518,844 (GRCm39)		probably benign	Het
Fbxl3	A	T	14: 103,329,749 (GRCm39)	D106E	probably damaging	Het
Garem1	T	C	18: 21,369,172 (GRCm39)	N50D	possibly damaging	Het
Gins1	G	A	2: 150,751,682 (GRCm39)	R15H	probably damaging	Het
Glrx2	A	G	1: 143,617,418 (GRCm39)	K44R	possibly damaging	Het
Icam1	A	G	9: 20,937,608 (GRCm39)	D215G	possibly damaging	Het
Nedd9	A	T	13: 41,471,429 (GRCm39)	I184N	probably damaging	Het
Or10a2	T	C	7: 106,673,799 (GRCm39)	S255P	probably damaging	Het
Or1e21	T	C	11: 73,344,391 (GRCm39)	M216V	probably benign	Het
Otulinl	C	T	15: 27,664,429 (GRCm39)		probably null	Het
Rhot2	A	G	17: 26,061,065 (GRCm39)	C147R	probably damaging	Het
Saxo4	T	C	19: 10,452,385 (GRCm39)	Y375C	probably damaging	Het
Setd4	T	C	16: 93,380,574 (GRCm39)		probably null	Het
Slc6a4	A	G	11: 76,907,904 (GRCm39)	N356S	probably damaging	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tmem168	A	C	6: 13,595,072 (GRCm39)	I381S	probably benign	Het
Tnfrsf11b	T	A	15: 54,119,555 (GRCm39)	T140S	possibly damaging	Het
Ttpa	G	T	4: 20,023,827 (GRCm39)	E130*	probably null	Het
Ubr5	A	G	15: 38,078,647 (GRCm39)	V8A	probably damaging	Het
Vmn2r18	C	T	5: 151,496,368 (GRCm39)	C450Y	probably damaging	Het
Vmn2r32	A	T	7: 7,482,857 (GRCm39)	L39*	probably null	Het

Other mutations in Dus4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Dus4l	APN	12	31,691,668 (GRCm39)	missense	probably benign	0.27
IGL01299:Dus4l	APN	12	31,690,823 (GRCm39)	missense	probably benign
IGL01443:Dus4l	APN	12	31,702,409 (GRCm39)	unclassified	probably benign
IGL01796:Dus4l	APN	12	31,692,794 (GRCm39)	missense	probably benign	0.01
IGL02234:Dus4l	APN	12	31,691,495 (GRCm39)	splice site	probably benign
IGL02385:Dus4l	APN	12	31,690,674 (GRCm39)	utr 3 prime	probably benign
R0483:Dus4l	UTSW	12	31,691,656 (GRCm39)	missense	possibly damaging	0.91
R1432:Dus4l	UTSW	12	31,698,770 (GRCm39)	missense	probably benign	0.03
R1514:Dus4l	UTSW	12	31,690,938 (GRCm39)	missense	probably damaging	1.00
R1880:Dus4l	UTSW	12	31,690,869 (GRCm39)	missense	probably benign	0.00
R5425:Dus4l	UTSW	12	31,690,807 (GRCm39)	missense	probably damaging	1.00
R5568:Dus4l	UTSW	12	31,696,712 (GRCm39)	missense	probably damaging	1.00
R7188:Dus4l	UTSW	12	31,696,714 (GRCm39)	missense	probably damaging	1.00
R8184:Dus4l	UTSW	12	31,690,817 (GRCm39)	missense	probably damaging	1.00
R8900:Dus4l	UTSW	12	31,690,692 (GRCm39)	missense	possibly damaging	0.51
R9696:Dus4l	UTSW	12	31,696,647 (GRCm39)	missense	probably damaging	0.97
R9801:Dus4l	UTSW	12	31,698,827 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCTGATGGCTTAATGAATAGCT -3'
(R):5'- TCTAACAGAGATGAGAACATAGCTTT -3'

Sequencing Primer
(F):5'- CCTCCCAATTATGTTGCAC -3'
(R):5'- TCTGGACCAGCCTGAACTATGTAG -3'

Posted On

2015-07-06