Mutagenetix > Incidental Mutations

Incidental Mutation 'R6133:Urb2'

487240

Institutional Source

Beutler Lab

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

MMRRC Submission

044280-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R6133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124021508-124048505 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 124028561 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 336 (Q336*)

Ref Sequence

ENSEMBL: ENSMUSP00000133547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034457] [ENSMUST00000127664] [ENSMUST00000173168]

Predicted Effect

probably null
Transcript: ENSMUST00000034457
AA Change: Q336*

SMART Domains

Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: Q336*

Domain	Start	End	E-Value	Type
low complexity region	489	503	N/A	INTRINSIC
low complexity region	541	546	N/A	INTRINSIC
low complexity region	576	590	N/A	INTRINSIC
low complexity region	887	900	N/A	INTRINSIC
low complexity region	1073	1092	N/A	INTRINSIC
low complexity region	1172	1188	N/A	INTRINSIC
low complexity region	1273	1279	N/A	INTRINSIC
Pfam:Urb2	1319	1515	2.7e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000173168
AA Change: Q336*

SMART Domains

Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: Q336*

Domain	Start	End	E-Value	Type
low complexity region	489	503	N/A	INTRINSIC
low complexity region	541	546	N/A	INTRINSIC
low complexity region	576	590	N/A	INTRINSIC
low complexity region	887	900	N/A	INTRINSIC
low complexity region	1073	1092	N/A	INTRINSIC
low complexity region	1172	1188	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212460

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	A	G	8: 88,325,439	T912A	possibly damaging	Het
Akap12	G	T	10: 4,355,178	G663C	probably benign	Het
Akap2	C	T	4: 57,855,516	Q525*	probably null	Het
Ankhd1	T	C	18: 36,625,126	S958P	possibly damaging	Het
Cmtm2a	T	C	8: 104,292,730	I76V	probably benign	Het
Cpxm2	G	A	7: 132,128,453	P146S	probably damaging	Het
Cubn	A	G	2: 13,308,618	V3047A	probably benign	Het
Dgkd	T	A	1: 87,938,240	V198E	possibly damaging	Het
Dnah3	A	T	7: 120,086,246	M181K	probably benign	Het
Dnah7a	T	C	1: 53,419,655	T3775A	probably benign	Het
Dsg2	A	G	18: 20,590,089	I391V	probably benign	Het
Ebi3	T	A	17: 55,954,311	V69E	probably benign	Het
Fn1	T	C	1: 71,597,727	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915	H1245Q	probably benign	Het
Gm7145	T	A	1: 117,985,888	C167S	probably damaging	Het
Hydin	C	T	8: 110,601,276	T4805I	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnma1	C	T	14: 24,003,868	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,843,788	D621G	probably benign	Het
Lrrc15	C	T	16: 30,274,236	G95D	probably benign	Het
Mex3d	A	G	10: 80,386,786	L212P	probably damaging	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Naip1	A	G	13: 100,444,643	V32A	probably benign	Het
Nsl1	T	C	1: 191,071,206	L158P	probably damaging	Het
Olfr638	A	T	7: 104,003,325	T17S	possibly damaging	Het
Olfr771	G	A	10: 129,160,883	L34F	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pcdh15	A	T	10: 74,645,973		probably null	Het
Pramef20	T	C	4: 144,377,777	R53G	possibly damaging	Het
Ptpn1	T	C	2: 167,967,796	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,339,768	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,743,104	V1433I	probably benign	Het
Ssrp1	T	G	2: 85,045,339		probably benign	Het
Suco	T	A	1: 161,835,183	K560*	probably null	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Tmem30c	T	C	16: 57,277,737	Y107C	probably damaging	Het
Topbp1	T	A	9: 103,311,764		probably null	Het
Trpm5	A	T	7: 143,088,951	D86E	probably damaging	Het
Vmn2r43	A	G	7: 8,244,971	F731S	probably damaging	Het
Xkr9	A	G	1: 13,684,135	T118A	probably benign	Het
Zcchc2	A	C	1: 106,019,879	K117N	probably damaging	Het
Zfp52	T	C	17: 21,560,471	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,018,701	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,958,119	R148L	possibly damaging	Het

Other mutations in Urb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Urb2	APN	8	124028694	missense	probably damaging	1.00
IGL00705:Urb2	APN	8	124036637	missense	probably benign	0.00
IGL02090:Urb2	APN	8	124028237	missense	probably benign	0.28
IGL02707:Urb2	APN	8	124030686	missense	probably benign	0.04
IGL03103:Urb2	APN	8	124029752	missense	probably benign	0.17
IGL03402:Urb2	APN	8	124029849	missense	possibly damaging	0.92
R0037:Urb2	UTSW	8	124047195	missense	probably damaging	1.00
R0113:Urb2	UTSW	8	124030926	missense	probably benign	0.00
R0883:Urb2	UTSW	8	124030970	nonsense	probably null
R1015:Urb2	UTSW	8	124029434	missense	probably damaging	1.00
R1265:Urb2	UTSW	8	124025153	missense	probably damaging	1.00
R1463:Urb2	UTSW	8	124030908	missense	probably benign	0.04
R1497:Urb2	UTSW	8	124028077	missense	probably damaging	1.00
R1556:Urb2	UTSW	8	124030617	missense	probably damaging	1.00
R1622:Urb2	UTSW	8	124029624	missense	probably benign
R1914:Urb2	UTSW	8	124029798	missense	possibly damaging	0.81
R1915:Urb2	UTSW	8	124029798	missense	possibly damaging	0.81
R2172:Urb2	UTSW	8	124031102	missense	probably damaging	1.00
R2240:Urb2	UTSW	8	124030139	missense	probably benign	0.02
R2424:Urb2	UTSW	8	124030426	missense	probably benign	0.02
R4085:Urb2	UTSW	8	124030941	missense	probably benign	0.02
R4119:Urb2	UTSW	8	124047240	missense	probably benign	0.00
R4732:Urb2	UTSW	8	124028897	missense	probably damaging	1.00
R4733:Urb2	UTSW	8	124028897	missense	probably damaging	1.00
R4865:Urb2	UTSW	8	124029635	nonsense	probably null
R5005:Urb2	UTSW	8	124031181	missense	probably damaging	0.97
R5381:Urb2	UTSW	8	124029912	missense	probably benign	0.02
R5704:Urb2	UTSW	8	124038182	missense	probably damaging	0.97
R5891:Urb2	UTSW	8	124030856	missense	possibly damaging	0.64
R5958:Urb2	UTSW	8	124029659	missense	probably benign	0.01
R5966:Urb2	UTSW	8	124028088	missense	probably benign	0.00
R6136:Urb2	UTSW	8	124030092	missense	probably benign
R6341:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6343:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6344:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6417:Urb2	UTSW	8	124047199	missense	probably damaging	1.00
R6420:Urb2	UTSW	8	124047199	missense	probably damaging	1.00
R6585:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6586:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6587:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6588:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R7061:Urb2	UTSW	8	124028297	missense	probably benign
R7090:Urb2	UTSW	8	124030599	missense	probably benign
R7371:Urb2	UTSW	8	124028269	missense	probably benign	0.00
R7467:Urb2	UTSW	8	124028511	missense	probably benign
R7542:Urb2	UTSW	8	124028588	missense	probably benign
R7545:Urb2	UTSW	8	124029752	missense	probably benign	0.00
R7686:Urb2	UTSW	8	124045172	missense	probably benign	0.01
R8046:Urb2	UTSW	8	124028032	missense	possibly damaging	0.92
R8101:Urb2	UTSW	8	124028040	missense	probably benign	0.01
R8404:Urb2	UTSW	8	124025203	missense	probably damaging	1.00
X0020:Urb2	UTSW	8	124030983	missense	possibly damaging	0.91
X0027:Urb2	UTSW	8	124028814	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTGATTGCAAGACTGGTAG -3'
(R):5'- TCTTGAGGCAGCGAAACCAAG -3'

Sequencing Primer
(F):5'- AGAGCCTGGCTATGTCAGATC -3'
(R):5'- ATGGTTGATCAGCACCTCAG -3'

Posted On

2017-10-10