Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00946:Dus1l'

28565

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dus1l

Ensembl Gene

ENSMUSG00000025155

Gene Name

dihydrouridine synthase 1 like

Synonyms

1110032N12Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00946

Quality Score

Status

Chromosome

Chromosomal Location

120680027-120687229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120684701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 157 (T157A)

Ref Sequence

ENSEMBL: ENSMUSP00000132516 (fasta)

Gene Model

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

AlphaFold

Q8C2P3

Predicted Effect

probably damaging
Transcript: ENSMUST00000026151
AA Change: T157A

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

SMART Domains

Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155
AA Change: T157A

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 damaging
Transcript: ENSMUST00000106133
AA Change: T157A

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

SMART Domains

Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155
AA Change: T157A

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 damaging
Transcript: ENSMUST00000106135
AA Change: T157A

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

SMART Domains

Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155
AA Change: T157A

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 damaging
Transcript: ENSMUST00000129955
AA Change: T157A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116619
Gene: ENSMUSG00000025155
AA Change: T157A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143139
AA Change: T146A

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118773
Gene: ENSMUSG00000025155
AA Change: T146A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167023
AA Change: T157A

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

SMART Domains

Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155
AA Change: T157A

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: ENSMUST00000208737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146008

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	C	4: 132,790,373 (GRCm39)	I538T	probably benign	Het
Bmp10	A	T	6: 87,411,344 (GRCm39)	Q379L	probably damaging	Het
Cacna2d4	G	A	6: 119,248,876 (GRCm39)	A446T	possibly damaging	Het
Chrdl1	G	A	X: 142,077,164 (GRCm39)		probably benign	Het
Crtc2	A	G	3: 90,168,112 (GRCm39)	H370R	probably damaging	Het
Cubn	T	C	2: 13,461,434 (GRCm39)	T698A	probably damaging	Het
Deup1	T	C	9: 15,472,534 (GRCm39)	T593A	possibly damaging	Het
Efcab6	T	C	15: 83,902,897 (GRCm39)	N151S	probably benign	Het
Eif2b5	T	A	16: 20,324,002 (GRCm39)	H448Q	probably benign	Het
Epha8	T	C	4: 136,673,121 (GRCm39)	D221G	probably damaging	Het
Eprs1	G	A	1: 185,139,898 (GRCm39)	G996S	probably benign	Het
Fn1	G	A	1: 71,684,699 (GRCm39)		probably benign	Het
Gfpt1	A	G	6: 87,027,924 (GRCm39)	Y10C	probably damaging	Het
Ghitm	C	T	14: 36,847,203 (GRCm39)	M290I	probably benign	Het
Gpd2	T	C	2: 57,158,096 (GRCm39)		probably null	Het
Htr2a	T	A	14: 74,943,582 (GRCm39)	Y387*	probably null	Het
Lrrc7	T	A	3: 157,866,993 (GRCm39)	Q916L	probably benign	Het
Mfsd9	A	C	1: 40,812,940 (GRCm39)	D458E	probably benign	Het
Nmb	T	C	7: 80,552,208 (GRCm39)	I123M	probably benign	Het
Nrap	A	T	19: 56,329,058 (GRCm39)		probably null	Het
Or10j7	A	T	1: 173,011,190 (GRCm39)	D270E	probably benign	Het
Or4d5	A	G	9: 40,012,450 (GRCm39)	I112T	probably benign	Het
Or4k49	T	A	2: 111,495,489 (GRCm39)	M306K	probably benign	Het
Pola1	T	C	X: 92,524,145 (GRCm39)	I1165M	probably benign	Het
Sdk1	G	T	5: 142,070,368 (GRCm39)		probably null	Het
Selenon	T	A	4: 134,267,037 (GRCm39)		probably benign	Het
Stk39	T	A	2: 68,144,908 (GRCm39)	T389S	possibly damaging	Het
Tmx3	A	G	18: 90,558,178 (GRCm39)	E410G	possibly damaging	Het
Utp20	A	T	10: 88,584,177 (GRCm39)	V2660E	possibly damaging	Het
Vps52	T	C	17: 34,175,932 (GRCm39)	L40P	possibly damaging	Het
Wdr25	C	T	12: 108,990,953 (GRCm39)	S380F	possibly damaging	Het
Xpo7	T	C	14: 70,909,098 (GRCm39)	T808A	probably benign	Het
Zc3h14	T	C	12: 98,726,142 (GRCm39)		probably benign	Het

Other mutations in Dus1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17