Mutagenetix > Incidental Mutation

Incidental Mutation 'R7056:Dus1l'

547939

Institutional Source

Beutler Lab

Gene Symbol

Dus1l

Ensembl Gene

ENSMUSG00000025155

Gene Name

dihydrouridine synthase 1 like

Synonyms

1110032N12Rik

MMRRC Submission

045153-MU

Accession Numbers

Essential gene?

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

Stock #

R7056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120680027-120687229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120682120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 362 (E362G)

Ref Sequence

ENSEMBL: ENSMUSP00000132516 (fasta)

Gene Model

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

AlphaFold

Q8C2P3

Predicted Effect

probably benign
Transcript: ENSMUST00000026151
AA Change: E369G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155
AA Change: E369G

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
AA Change: E369G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155
AA Change: E369G

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
AA Change: E369G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155
AA Change: E369G

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

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

SMART Domains

Protein: ENSMUSP00000118773
Gene: ENSMUSG00000025155

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167023
AA Change: E362G

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155
AA Change: E362G

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000208737

Meta Mutation Damage Score

0.0861

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	A	9: 95,744,916 (GRCm39)	S78T	probably damaging	Het
B2m	T	C	2: 121,981,465 (GRCm39)	L60P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cep350	A	C	1: 155,724,373 (GRCm39)	I3075S	probably damaging	Het
Cep97	A	G	16: 55,725,935 (GRCm39)	S651P	probably damaging	Het
Chrna5	C	T	9: 54,888,985 (GRCm39)		probably benign	Het
Cog5	T	C	12: 31,715,468 (GRCm39)	V80A	possibly damaging	Het
Col9a2	G	A	4: 120,906,913 (GRCm39)		probably null	Het
Cop1	C	T	1: 159,077,647 (GRCm39)	L161F	probably damaging	Het
Cyp4f17	A	T	17: 32,746,846 (GRCm39)	M383L	possibly damaging	Het
Dennd4a	A	G	9: 64,814,205 (GRCm39)	D1474G	possibly damaging	Het
Dgkb	A	C	12: 38,150,492 (GRCm39)	S100R	probably benign	Het
Dnah17	A	G	11: 118,016,212 (GRCm39)	V309A	probably benign	Het
Dner	C	A	1: 84,558,457 (GRCm39)	R169L	possibly damaging	Het
Eed	A	T	7: 89,619,564 (GRCm39)	S168T	possibly damaging	Het
Eif3a	T	A	19: 60,751,500 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,450 (GRCm39)	S472G	probably benign	Het
Fbn2	T	A	18: 58,209,798 (GRCm39)	T1028S	probably benign	Het
Fbxw16	A	G	9: 109,265,352 (GRCm39)	V393A	possibly damaging	Het
Fig4	A	T	10: 41,096,928 (GRCm39)	L838Q	probably benign	Het
Gm13941	T	G	2: 110,927,147 (GRCm39)	S137R	unknown	Het
Gm9938	T	G	19: 23,701,981 (GRCm39)		probably benign	Het
Igsf10	T	G	3: 59,238,501 (GRCm39)	D560A	probably damaging	Het
Lrrk2	T	A	15: 91,659,198 (GRCm39)	L1870*	probably null	Het
Mep1b	T	A	18: 21,224,247 (GRCm39)	Y347N	probably damaging	Het
Mepce	T	C	5: 137,780,968 (GRCm39)	N613D	probably damaging	Het
Mgat3	T	G	15: 80,096,097 (GRCm39)	L308R	probably damaging	Het
Morc2a	A	G	11: 3,625,925 (GRCm39)	Y175C	probably damaging	Het
Necab2	A	G	8: 120,178,878 (GRCm39)	N98S	probably benign	Het
Net1	T	C	13: 3,934,845 (GRCm39)	M394V	probably benign	Het
Nfat5	G	A	8: 108,094,738 (GRCm39)	G993D	probably damaging	Het
Obscn	C	A	11: 58,887,122 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,465,904 (GRCm39)	H34R	probably damaging	Het
Or2ab1	A	G	11: 58,489,044 (GRCm39)	Y274C	probably damaging	Het
Or4f60	T	C	2: 111,902,662 (GRCm39)	N89D	probably benign	Het
Pmm2	T	A	16: 8,460,628 (GRCm39)	F27L	probably damaging	Het
Ptpdc1	C	A	13: 48,740,466 (GRCm39)	V261F	possibly damaging	Het
Pyroxd1	G	T	6: 142,304,808 (GRCm39)	R345L	probably benign	Het
Radil	A	T	5: 142,480,109 (GRCm39)	C670*	probably null	Het
Rasgrf2	C	T	13: 92,167,203 (GRCm39)	S290N	probably damaging	Het
Rbm33	T	C	5: 28,599,001 (GRCm39)		probably benign	Het
Rnf111	A	T	9: 70,360,957 (GRCm39)	S501R	possibly damaging	Het
Sel1l2	T	A	2: 140,087,334 (GRCm39)	I446F	probably benign	Het
Sh3pxd2b	T	C	11: 32,372,737 (GRCm39)	S635P	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Smg1	T	C	7: 117,745,623 (GRCm39)		probably benign	Het
Sorcs2	C	A	5: 36,225,474 (GRCm39)	D132Y	probably damaging	Het
Sox18	T	C	2: 181,313,280 (GRCm39)	D12G	probably damaging	Het
Srsf4	G	T	4: 131,628,004 (GRCm39)		probably benign	Het
Susd4	C	A	1: 182,660,721 (GRCm39)	T81N	probably benign	Het
Tmem256	G	T	11: 69,729,416 (GRCm39)		probably benign	Het
Tor4a	T	C	2: 25,084,853 (GRCm39)	H350R	probably benign	Het
Ugt2a3	T	A	5: 87,484,953 (GRCm39)	S24C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r77	C	T	7: 86,451,023 (GRCm39)	T303I	probably benign	Het
Wdr70	T	A	15: 7,913,877 (GRCm39)	I591F	possibly damaging	Het
Wdr93	T	C	7: 79,399,088 (GRCm39)	I74T	probably damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp592	T	A	7: 80,673,067 (GRCm39)	D10E	probably damaging	Het
Zfp69	A	G	4: 120,788,295 (GRCm39)	V340A	probably benign	Het
Zswim2	C	T	2: 83,751,092 (GRCm39)		probably null	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
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
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'- AGAGACATTACACTTGACGGGC -3'
(R):5'- TTGGGCAGCCAAGCATAGTTG -3'

Sequencing Primer
(F):5'- ATTACACTTGACGGGCCTGGAC -3'
(R):5'- GCTTGGTGTGAGTGGGAGAC -3'

Posted On

2019-05-13