Mutagenetix > Incidental Mutation

Incidental Mutation 'R3149:Dus1l'

264366

Institutional Source

Beutler Lab

Gene Symbol

Dus1l

Ensembl Gene

ENSMUSG00000025155

Gene Name

dihydrouridine synthase 1 like

Synonyms

1110032N12Rik

MMRRC Submission

040601-MU

Accession Numbers

Essential gene?

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

Stock #

R3149 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120680027-120687229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120683930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 173 (T173A)

Ref Sequence

ENSEMBL: ENSMUSP00000132516 (fasta)

Gene Model

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

AlphaFold

Q8C2P3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026151
AA Change: T173A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155
AA Change: T173A

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

possibly damaging
Transcript: ENSMUST00000106133
AA Change: T173A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155
AA Change: T173A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106135
AA Change: T173A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155
AA Change: T173A

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

probably benign
Transcript: ENSMUST00000143139
AA Change: T162A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000118773
Gene: ENSMUSG00000025155
AA Change: T162A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146008

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167023
AA Change: T173A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155
AA Change: T173A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156723

Predicted Effect

probably benign
Transcript: ENSMUST00000208737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142418

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153678

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	G	A	17: 57,183,348 (GRCm39)	A30T	probably benign	Het
Atox1	A	G	11: 55,341,379 (GRCm39)	L52P	possibly damaging	Het
Cel	T	C	2: 28,446,143 (GRCm39)	D576G	probably benign	Het
Csf2ra	C	A	19: 61,215,758 (GRCm39)	A16S	possibly damaging	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dzip1	T	C	14: 119,148,780 (GRCm39)	T300A	probably benign	Het
Ggta1	A	T	2: 35,292,635 (GRCm39)	I224N	probably damaging	Het
Gm5150	A	G	3: 16,060,479 (GRCm39)	L3P	probably damaging	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7137	T	C	10: 77,623,839 (GRCm39)		probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hoxa13	G	T	6: 52,237,284 (GRCm39)		probably benign	Het
Ift46	A	G	9: 44,695,045 (GRCm39)	D65G	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Mapk11	T	C	15: 89,029,653 (GRCm39)		probably null	Het
Mettl25	T	C	10: 105,662,214 (GRCm39)	D252G	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Or10ab4	C	T	7: 107,654,989 (GRCm39)	R267C	probably benign	Het
Pecam1	A	G	11: 106,575,107 (GRCm39)	V601A	possibly damaging	Het
Prkx	A	T	X: 76,814,881 (GRCm39)	F260I	probably damaging	Het
Rassf9	A	T	10: 102,380,687 (GRCm39)	D21V	possibly damaging	Het
Rmnd5a	T	A	6: 71,406,085 (GRCm39)	I68L	probably benign	Het
Rock2	T	C	12: 17,015,092 (GRCm39)	S762P	probably damaging	Het
Septin4	T	C	11: 87,458,070 (GRCm39)	V148A	possibly damaging	Het
Srgap2	T	C	1: 131,220,327 (GRCm39)	T216A	probably benign	Het
Tasor2	G	A	13: 3,624,359 (GRCm39)	P1182S	probably damaging	Het
Vmn1r86	T	A	7: 12,836,358 (GRCm39)	K123*	probably null	Het
Vmn2r68	A	C	7: 84,886,875 (GRCm39)	V13G	probably benign	Het
Vps13d	G	C	4: 144,853,147 (GRCm39)	N2322K	possibly damaging	Het
Xpo5	A	G	17: 46,553,173 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	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
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
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'- TCCCAGATAGTTATAGGCATTGG -3'
(R):5'- ACTCAGGGTTCTGCCTCTTG -3'

Sequencing Primer
(F):5'- TTGGGTAATGCTGAACAACCAC -3'
(R):5'- CCTGGGGCTCTTCCAAAG -3'

Posted On

2015-02-05