Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Dus1l'

63986

Institutional Source

Beutler Lab

Gene Symbol

Dus1l

Ensembl Gene

ENSMUSG00000025155

Gene Name

dihydrouridine synthase 1 like

Synonyms

1110032N12Rik

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R0076 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

120680027-120687229 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 120683634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026151] [ENSMUST00000100134] [ENSMUST00000106133] [ENSMUST00000106135] [ENSMUST00000116305] [ENSMUST00000129955] [ENSMUST00000167023] [ENSMUST00000143139] [ENSMUST00000208737] [ENSMUST00000153678] [ENSMUST00000172809]

AlphaFold

Q8C2P3

Predicted Effect

probably benign
Transcript: ENSMUST00000026151

SMART Domains

Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	314	5.5e-76	PFAM
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100134

SMART Domains

Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156

Domain	Start	End	E-Value	Type
Pfam:RPN7	123	305	4.9e-78	PFAM
PINT	356	439	5.77e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106133

SMART Domains

Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	314	8.5e-76	PFAM
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106135

SMART Domains

Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	314	8.5e-76	PFAM
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116305

SMART Domains

Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156

Domain	Start	End	E-Value	Type
Pfam:RPN7	123	305	1.3e-77	PFAM
PINT	356	439	5.77e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125156

Predicted Effect

probably benign
Transcript: ENSMUST00000129955

SMART Domains

Protein: ENSMUSP00000116619
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	166	5.8e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146008

Predicted Effect

probably benign
Transcript: ENSMUST00000167023

SMART Domains

Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	322	1.6e-75	PFAM
low complexity region	360	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143139

SMART Domains

Protein: ENSMUSP00000118773
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	194	1.6e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156723

Predicted Effect

probably benign
Transcript: ENSMUST00000208737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142418

Predicted Effect

probably benign
Transcript: ENSMUST00000153678

Predicted Effect

probably benign
Transcript: ENSMUST00000172809

SMART Domains

Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
low complexity region	37	49	N/A	INTRINSIC
Pfam:RPN7	162	344	8.8e-77	PFAM
PINT	395	478	5.77e-19	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	G	9: 104,201,417 (GRCm39)		probably benign	Het
Ankrd17	T	A	5: 90,392,265 (GRCm39)	K1693*	probably null	Het
Car10	G	A	11: 93,381,423 (GRCm39)	E129K	possibly damaging	Het
Ccnd1	A	C	7: 144,493,402 (GRCm39)	V10G	probably benign	Het
Cd19	T	C	7: 126,010,034 (GRCm39)	D406G	probably damaging	Het
Cfap91	G	A	16: 38,123,046 (GRCm39)	Q661*	probably null	Het
Col4a1	G	A	8: 11,268,713 (GRCm39)	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,276,578 (GRCm39)		probably null	Het
Crlf3	A	T	11: 79,947,427 (GRCm39)		probably benign	Het
Dock3	A	C	9: 106,788,685 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,898,926 (GRCm39)	E438K	probably damaging	Het
Eif3g	A	G	9: 20,809,049 (GRCm39)	F85S	probably damaging	Het
Fam234b	A	G	6: 135,204,224 (GRCm39)	M456V	probably benign	Het
Fbxo47	G	A	11: 97,748,481 (GRCm39)		probably benign	Het
Galntl5	A	G	5: 25,391,070 (GRCm39)		probably null	Het
Gm11437	T	C	11: 84,039,462 (GRCm39)	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,260,448 (GRCm39)		noncoding transcript	Het
Gmfb	C	A	14: 47,054,912 (GRCm39)	A11S	probably benign	Het
Hnrnpa3	G	T	2: 75,492,040 (GRCm39)	R52L	probably damaging	Het
Ing3	T	C	6: 21,952,170 (GRCm39)	M48T	probably benign	Het
Kmt2a	A	G	9: 44,741,356 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,383 (GRCm39)		probably null	Het
Pex3	A	G	10: 13,411,338 (GRCm39)	V180A	probably benign	Het
Pou6f1	G	A	15: 100,485,717 (GRCm39)	Q106*	probably null	Het
Ror2	T	C	13: 53,267,110 (GRCm39)	M442V	probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Sec1	A	G	7: 45,328,315 (GRCm39)	V244A	probably damaging	Het
Serac1	A	G	17: 6,115,212 (GRCm39)		probably benign	Het
Sgcz	A	G	8: 38,012,596 (GRCm39)		probably benign	Het
Slc16a7	A	T	10: 125,063,939 (GRCm39)	V466D	probably benign	Het
Tbl1xr1	T	A	3: 22,243,949 (GRCm39)	D74E	probably benign	Het
Ube3b	G	T	5: 114,546,278 (GRCm39)		probably null	Het
Ugt2b37	A	G	5: 87,402,080 (GRCm39)	S184P	probably benign	Het

Other mutations in Dus1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Dus1l	APN	11	120,684,701 (GRCm39)	missense	probably damaging	1.00
IGL01338:Dus1l	APN	11	120,683,918 (GRCm39)	missense	possibly damaging	0.95
IGL01538:Dus1l	APN	11	120,683,905 (GRCm39)	missense	probably damaging	0.98
IGL03220:Dus1l	APN	11	120,683,185 (GRCm39)	missense	probably damaging	1.00
R0076:Dus1l	UTSW	11	120,683,634 (GRCm39)	unclassified	probably benign
R0893:Dus1l	UTSW	11	120,680,262 (GRCm39)	missense	possibly damaging	0.92
R1763:Dus1l	UTSW	11	120,686,497 (GRCm39)	missense	probably benign	0.00
R3149:Dus1l	UTSW	11	120,683,930 (GRCm39)	missense	possibly damaging	0.93
R4175:Dus1l	UTSW	11	120,686,506 (GRCm39)	missense	possibly damaging	0.94
R4753:Dus1l	UTSW	11	120,682,901 (GRCm39)	missense	probably benign	0.21
R4816:Dus1l	UTSW	11	120,680,584 (GRCm39)	unclassified	probably benign
R7056:Dus1l	UTSW	11	120,682,120 (GRCm39)	missense	probably benign	0.35
R7808:Dus1l	UTSW	11	120,680,262 (GRCm39)	missense	possibly damaging	0.92
R9323:Dus1l	UTSW	11	120,684,724 (GRCm39)	missense	probably damaging	1.00
R9777:Dus1l	UTSW	11	120,683,858 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- TCTGACATTGCCTAGAGAGACCCAC -3'
(R):5'- GGTTGTTCAGCATTACCCAATGCC -3'

Sequencing Primer
(F):5'- CTAGCTATAGGGTCAGCAAGTCTG -3'
(R):5'- CCAATGCCTATAACTATCTGGGAGG -3'

Posted On

2013-08-06