Mutagenetix > Incidental Mutation

Incidental Mutation 'R9113:Dus2'

692363

Institutional Source

Beutler Lab

Gene Symbol

Dus2

Ensembl Gene

ENSMUSG00000031901

Gene Name

dihydrouridine synthase 2

Synonyms

Dus2l, 2310016K04Rik

MMRRC Submission

068920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R9113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106738110-106780472 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 106775333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 287 (Q287*)

Ref Sequence

ENSEMBL: ENSMUSP00000034375 (fasta)

Gene Model

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

AlphaFold

Q9D7B1

PDB Structure

Solution structure of the dsRBD from hypothetical protein BAB26260 [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000034375
AA Change: Q287*

SMART Domains

Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901
AA Change: Q287*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,591,656 (GRCm39)	I791F	probably damaging	Het
Adamts15	A	G	9: 30,822,498 (GRCm39)	M389T	probably damaging	Het
Adgrb2	G	A	4: 129,910,877 (GRCm39)	V1065M	probably damaging	Het
Agbl1	C	A	7: 76,239,225 (GRCm39)	A827E	unknown	Het
Alox5ap	T	C	5: 149,216,015 (GRCm39)	F67S	probably damaging	Het
Ankrd11	T	C	8: 123,614,072 (GRCm39)	N2566S	possibly damaging	Het
Arhgap10	T	C	8: 77,985,701 (GRCm39)	D722G	probably damaging	Het
Atp5mf	A	G	5: 145,128,315 (GRCm39)	L4P	probably benign	Het
Bean1	T	C	8: 104,940,557 (GRCm39)	V130A	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdhr2	A	G	13: 54,882,700 (GRCm39)	D1222G	probably benign	Het
Chrm4	T	A	2: 91,758,075 (GRCm39)	V161E	probably benign	Het
Ckap5	T	C	2: 91,426,144 (GRCm39)	S1335P	probably damaging	Het
Col11a1	T	A	3: 113,888,192 (GRCm39)	Y267*	probably null	Het
Col14a1	T	C	15: 55,201,825 (GRCm39)	Y38H	unknown	Het
Coro2a	C	T	4: 46,563,047 (GRCm39)	G36S		Het
Ctsc	A	T	7: 87,959,104 (GRCm39)	K461N	possibly damaging	Het
Dcaf1	A	G	9: 106,712,831 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,880,713 (GRCm39)	I2628T	probably damaging	Het
Dnajb5	T	C	4: 42,953,233 (GRCm39)	I20T	probably damaging	Het
Fbxl17	A	G	17: 63,532,085 (GRCm39)	V586A	probably benign	Het
Glg1	A	T	8: 111,887,452 (GRCm39)		probably benign	Het
Gm4924	G	A	10: 82,214,113 (GRCm39)	C637Y	unknown	Het
Gorasp1	A	G	9: 119,757,442 (GRCm39)	F310S	probably damaging	Het
Gsta5	A	T	9: 78,212,667 (GRCm39)	I213F	probably benign	Het
Igfn1	G	A	1: 135,883,328 (GRCm39)	T2726I	probably damaging	Het
Inppl1	G	T	7: 101,475,231 (GRCm39)	P940Q	probably benign	Het
Klk1b22	G	A	7: 43,765,692 (GRCm39)	V183M	possibly damaging	Het
Krt12	A	G	11: 99,309,378 (GRCm39)	M294T	probably damaging	Het
Krtap6-2	GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA	GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA	16: 89,216,613 (GRCm39)		probably benign	Het
Lep	T	C	6: 29,071,093 (GRCm39)	L139P	probably damaging	Het
Ltn1	T	C	16: 87,224,532 (GRCm39)	D64G	probably damaging	Het
Lyzl1	C	T	18: 4,168,604 (GRCm39)	A28V	probably null	Het
Mcam	T	C	9: 44,051,693 (GRCm39)	V483A	probably benign	Het
Mia2	C	T	12: 59,217,053 (GRCm39)		probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Pde10a	A	G	17: 9,197,782 (GRCm39)	T742A	probably benign	Het
Rapgef4	A	G	2: 71,861,493 (GRCm39)	Y61C	probably benign	Het
Ryr2	A	T	13: 11,618,741 (GRCm39)		probably benign	Het
Setbp1	G	T	18: 78,900,948 (GRCm39)	H906Q	probably damaging	Het
Slc12a4	A	G	8: 106,670,984 (GRCm39)	V1032A	probably benign	Het
Slc6a15	T	C	10: 103,236,140 (GRCm39)	M285T	probably damaging	Het
Spata31h1	G	A	10: 82,131,352 (GRCm39)	Q553*	probably null	Het
Steap2	A	G	5: 5,727,475 (GRCm39)	Y287H	probably damaging	Het
Tas2r135	T	G	6: 42,383,315 (GRCm39)	F285V	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,618,538 (GRCm39)	T16249A	probably benign	Het
Usp8	A	G	2: 126,579,343 (GRCm39)	T299A	probably benign	Het
Vmn2r101	A	G	17: 19,811,288 (GRCm39)	I457M	possibly damaging	Het
Vps41	A	G	13: 19,023,883 (GRCm39)	E437G	probably benign	Het
Zfp638	A	T	6: 83,953,894 (GRCm39)	E1333V	probably damaging	Het

Other mutations in Dus2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Dus2	APN	8	106,752,533 (GRCm39)	splice site	probably null
IGL03000:Dus2	APN	8	106,775,316 (GRCm39)	missense	probably damaging	1.00
IGL03265:Dus2	APN	8	106,760,423 (GRCm39)	splice site	probably benign
R0400:Dus2	UTSW	8	106,775,309 (GRCm39)	missense	probably benign	0.08
R0733:Dus2	UTSW	8	106,772,702 (GRCm39)	critical splice donor site	probably null
R1109:Dus2	UTSW	8	106,780,114 (GRCm39)	missense	probably benign	0.16
R1190:Dus2	UTSW	8	106,771,497 (GRCm39)	missense	possibly damaging	0.67
R1296:Dus2	UTSW	8	106,779,675 (GRCm39)	missense	possibly damaging	0.86
R1819:Dus2	UTSW	8	106,778,480 (GRCm39)	missense	probably damaging	1.00
R2038:Dus2	UTSW	8	106,775,294 (GRCm39)	missense	probably damaging	0.99
R4282:Dus2	UTSW	8	106,775,286 (GRCm39)	missense	probably benign	0.17
R4621:Dus2	UTSW	8	106,757,074 (GRCm39)	missense	probably damaging	0.98
R4903:Dus2	UTSW	8	106,771,437 (GRCm39)	missense	probably benign	0.00
R5922:Dus2	UTSW	8	106,780,037 (GRCm39)	missense	possibly damaging	0.85
R5997:Dus2	UTSW	8	106,772,698 (GRCm39)	missense	probably benign	0.14
R7235:Dus2	UTSW	8	106,742,587 (GRCm39)	missense	possibly damaging	0.83
R7387:Dus2	UTSW	8	106,772,619 (GRCm39)	missense	probably damaging	1.00
R7974:Dus2	UTSW	8	106,762,652 (GRCm39)	missense	probably benign
R8088:Dus2	UTSW	8	106,757,073 (GRCm39)	missense	probably benign	0.00
R8343:Dus2	UTSW	8	106,722,645 (GRCm39)	utr 3 prime	probably benign
R9086:Dus2	UTSW	8	106,742,573 (GRCm39)	nonsense	probably null
R9383:Dus2	UTSW	8	106,776,950 (GRCm39)	missense	probably benign	0.02
R9480:Dus2	UTSW	8	106,757,052 (GRCm39)	nonsense	probably null
R9569:Dus2	UTSW	8	106,771,507 (GRCm39)	missense	probably damaging	0.99
R9766:Dus2	UTSW	8	106,772,568 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCAGGGTGGAGGCAGTTC -3'
(R):5'- CTCTCTTCTACAAAGCAGAGCC -3'

Sequencing Primer
(F):5'- CAGTTCTTATATGGGGGCAGGTCC -3'
(R):5'- TCTTCTACAAAGCAGAGCCATACTAC -3'

Posted On

2021-12-30