Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Urb1'

48254

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

4921511H13Rik, 5730405K23Rik

MMRRC Submission

038710-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90751527-90810413 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 90777422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 924 (Q924*)

Ref Sequence

ENSEMBL: ENSMUSP00000114717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140920]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140158

Predicted Effect

probably null
Transcript: ENSMUST00000140920
AA Change: Q924*

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: Q924*

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Pfam:Npa1	78	396	1.5e-86	PFAM
low complexity region	751	761	N/A	INTRINSIC
low complexity region	955	966	N/A	INTRINSIC
low complexity region	1126	1137	N/A	INTRINSIC
low complexity region	1360	1375	N/A	INTRINSIC
Pfam:NopRA1	1670	1859	3.6e-60	PFAM
low complexity region	2029	2040	N/A	INTRINSIC
low complexity region	2092	2111	N/A	INTRINSIC

Meta Mutation Damage Score

0.9701

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 36,981,132		probably benign	Het
Acer1	T	C	17: 56,955,569	T194A	probably benign	Het
Adamts1	C	A	16: 85,800,353	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,199,858	V1612A	probably benign	Het
Adcyap1r1	T	A	6: 55,491,297	S373T	probably damaging	Het
Armc4	A	C	18: 7,223,621	L474R	probably damaging	Het
Asic5	A	T	3: 82,009,526	I266F	probably benign	Het
Cacna1d	A	T	14: 30,179,275	I274K	probably damaging	Het
Camsap2	G	T	1: 136,293,388	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,673,520	L24*	probably null	Het
Cerk	G	A	15: 86,156,648	T170I	probably damaging	Het
Cyp27b1	T	C	10: 127,050,116		probably null	Het
Cyp2c65	T	C	19: 39,082,348		probably benign	Het
Dennd5a	A	G	7: 109,934,761	S75P	probably damaging	Het
Dhx9	C	T	1: 153,478,916	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,778,066	D171G	probably damaging	Het
Dsg3	A	G	18: 20,529,025	N449S	probably benign	Het
Eps8l3	T	C	3: 107,883,460	S189P	probably benign	Het
Exph5	A	G	9: 53,372,762	E381G	probably benign	Het
Fam208b	T	A	13: 3,566,964	T2367S	possibly damaging	Het
Fbxo46	A	G	7: 19,136,874	M473V	possibly damaging	Het
Fgf14	G	A	14: 123,983,784	P203S	probably damaging	Het
Foxf2	C	T	13: 31,626,243	A55V	unknown	Het
Galnt5	T	G	2: 58,035,373		probably benign	Het
Glis2	T	C	16: 4,611,552	L181P	probably damaging	Het
Gm1000	T	G	12: 104,476,408		probably benign	Het
Helz2	A	G	2: 181,227,770	S2959P	probably benign	Het
Hyal6	A	G	6: 24,734,853	N262D	probably benign	Het
Lgr4	T	C	2: 110,011,320	L526P	probably damaging	Het
Mapk1	A	T	16: 17,016,046	I88F	probably benign	Het
Mpg	A	T	11: 32,231,853	H287L	probably benign	Het
Mpp4	A	T	1: 59,124,727	Y489*	probably null	Het
Mpzl1	T	C	1: 165,601,790	E224G	probably damaging	Het
Myh10	A	G	11: 68,811,599		probably null	Het
Olfr1034	T	C	2: 86,047,204	S241P	probably damaging	Het
Olfr1340	T	A	4: 118,726,634	I129K	probably damaging	Het
Paip1	T	A	13: 119,447,790	F196I	probably damaging	Het
Pde3a	A	T	6: 141,498,657	K1064*	probably null	Het
Pira2	A	T	7: 3,844,197		probably benign	Het
Pros1	A	G	16: 62,903,518	S210G	probably benign	Het
Rbm15	A	T	3: 107,331,369	L571Q	probably damaging	Het
Scn1a	T	A	2: 66,302,407	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Serpina1e	G	A	12: 103,949,227	T240I	probably benign	Het
Setx	T	G	2: 29,157,133	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,867,651	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366	V300A	probably damaging	Het
Spata46	A	G	1: 170,311,609	Y59C	probably damaging	Het
Supt3	T	C	17: 45,119,271	F404L	probably benign	Het
Tars	T	A	15: 11,394,366	K62*	probably null	Het
Tas2r139	A	C	6: 42,141,491	T186P	probably damaging	Het
Tc2n	C	T	12: 101,649,195	S457N	probably damaging	Het
Tox4	A	T	14: 52,292,628	S582C	probably benign	Het
Trappc12	T	C	12: 28,697,134		probably benign	Het
Ubqlnl	G	T	7: 104,148,638	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,392,124	T205A	probably benign	Het
Vmn1r49	A	G	6: 90,072,738	L94P	probably damaging	Het
Vmn2r120	T	C	17: 57,508,949	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,570,319		probably benign	Het

Other mutations in Urb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Urb1	APN	16	90753321	critical splice donor site	probably null
IGL00915:Urb1	APN	16	90779098	missense	possibly damaging	0.76
IGL01108:Urb1	APN	16	90792814	missense	probably damaging	1.00
IGL01122:Urb1	APN	16	90804458	missense	possibly damaging	0.81
IGL01387:Urb1	APN	16	90757761	missense	possibly damaging	0.64
IGL01484:Urb1	APN	16	90777560	missense	probably benign	0.11
IGL01606:Urb1	APN	16	90760459	missense	probably damaging	1.00
IGL01989:Urb1	APN	16	90769586	splice site	probably benign
IGL02516:Urb1	APN	16	90772695	missense	possibly damaging	0.49
IGL03018:Urb1	APN	16	90788156	missense	probably benign	0.02
IGL03165:Urb1	APN	16	90780304	missense	probably damaging	1.00
IGL03216:Urb1	APN	16	90788114	missense	probably benign	0.00
H8562:Urb1	UTSW	16	90769469	missense	probably benign	0.08
H8786:Urb1	UTSW	16	90769469	missense	probably benign	0.08
R0064:Urb1	UTSW	16	90779140	missense	probably benign
R0064:Urb1	UTSW	16	90779140	missense	probably benign
R0359:Urb1	UTSW	16	90791160	missense	probably damaging	1.00
R0386:Urb1	UTSW	16	90796399	missense	probably damaging	1.00
R0508:Urb1	UTSW	16	90783262	splice site	probably benign
R0704:Urb1	UTSW	16	90776207	missense	probably benign	0.31
R0755:Urb1	UTSW	16	90774094	missense	probably damaging	1.00
R0755:Urb1	UTSW	16	90779138	missense	probably benign
R0783:Urb1	UTSW	16	90810297	missense	possibly damaging	0.55
R0833:Urb1	UTSW	16	90795448	missense	possibly damaging	0.89
R0836:Urb1	UTSW	16	90795448	missense	possibly damaging	0.89
R0970:Urb1	UTSW	16	90769447	missense	possibly damaging	0.83
R1144:Urb1	UTSW	16	90776318	splice site	probably null
R1344:Urb1	UTSW	16	90769466	missense	probably damaging	1.00
R1418:Urb1	UTSW	16	90769466	missense	probably damaging	1.00
R1453:Urb1	UTSW	16	90796492	missense	probably damaging	1.00
R1470:Urb1	UTSW	16	90752014	missense	probably benign	0.34
R1470:Urb1	UTSW	16	90752014	missense	probably benign	0.34
R1520:Urb1	UTSW	16	90774745	missense	probably benign	0.00
R1521:Urb1	UTSW	16	90753863	missense	probably damaging	1.00
R1598:Urb1	UTSW	16	90777440	missense	possibly damaging	0.93
R1617:Urb1	UTSW	16	90760452	missense	possibly damaging	0.82
R1625:Urb1	UTSW	16	90774048	critical splice donor site	probably null
R1640:Urb1	UTSW	16	90772626	missense	probably benign	0.00
R1664:Urb1	UTSW	16	90788082	critical splice donor site	probably null
R1672:Urb1	UTSW	16	90787397	missense	probably damaging	1.00
R1694:Urb1	UTSW	16	90767040	missense	probably benign
R1856:Urb1	UTSW	16	90761695	missense	probably benign	0.00
R2001:Urb1	UTSW	16	90762344	missense	probably benign	0.30
R2196:Urb1	UTSW	16	90774256	missense	probably benign	0.01
R2850:Urb1	UTSW	16	90774256	missense	probably benign	0.01
R3009:Urb1	UTSW	16	90774798	missense	probably benign	0.09
R3104:Urb1	UTSW	16	90795443	missense	probably damaging	1.00
R3105:Urb1	UTSW	16	90795443	missense	probably damaging	1.00
R3106:Urb1	UTSW	16	90795443	missense	probably damaging	1.00
R3160:Urb1	UTSW	16	90797903	missense	probably damaging	1.00
R3162:Urb1	UTSW	16	90797903	missense	probably damaging	1.00
R3900:Urb1	UTSW	16	90783376	missense	possibly damaging	0.86
R4014:Urb1	UTSW	16	90769465	missense	probably damaging	1.00
R4036:Urb1	UTSW	16	90788086	missense	probably benign
R4332:Urb1	UTSW	16	90774537	missense	probably damaging	1.00
R4448:Urb1	UTSW	16	90769394	missense	possibly damaging	0.71
R4581:Urb1	UTSW	16	90788146	missense	probably benign	0.04
R4593:Urb1	UTSW	16	90787444	missense	probably damaging	1.00
R4610:Urb1	UTSW	16	90776271	missense	probably benign	0.43
R4659:Urb1	UTSW	16	90776129	missense	probably damaging	0.96
R4672:Urb1	UTSW	16	90772634	missense	probably benign
R4681:Urb1	UTSW	16	90804537	missense	probably damaging	0.99
R4771:Urb1	UTSW	16	90753518	missense	probably benign	0.00
R4790:Urb1	UTSW	16	90769555	nonsense	probably null
R4798:Urb1	UTSW	16	90757827	missense	probably benign	0.12
R4809:Urb1	UTSW	16	90759842	missense	possibly damaging	0.82
R4850:Urb1	UTSW	16	90795414	nonsense	probably null
R4916:Urb1	UTSW	16	90783328	missense	probably damaging	1.00
R4969:Urb1	UTSW	16	90805411	missense	probably damaging	1.00
R5032:Urb1	UTSW	16	90756171	missense	probably benign	0.00
R5111:Urb1	UTSW	16	90752017	missense	probably benign	0.00
R5122:Urb1	UTSW	16	90752095	nonsense	probably null
R5184:Urb1	UTSW	16	90783274	critical splice donor site	probably null
R5199:Urb1	UTSW	16	90792748	missense	possibly damaging	0.95
R5436:Urb1	UTSW	16	90792762	missense	probably damaging	1.00
R5767:Urb1	UTSW	16	90776163	missense	probably benign	0.00
R5812:Urb1	UTSW	16	90804537	missense	probably damaging	0.99
R5872:Urb1	UTSW	16	90772764	nonsense	probably null
R6052:Urb1	UTSW	16	90762383	missense	probably damaging	1.00
R6063:Urb1	UTSW	16	90789097	missense	probably benign	0.02
R6065:Urb1	UTSW	16	90803332	missense	probably benign	0.03
R6181:Urb1	UTSW	16	90779094	missense	probably benign	0.00
R6268:Urb1	UTSW	16	90753919	missense	probably benign	0.03
R6429:Urb1	UTSW	16	90762430	splice site	probably null
R6572:Urb1	UTSW	16	90787414	missense	probably benign	0.37
R6606:Urb1	UTSW	16	90810268	missense	probably benign	0.00
R6730:Urb1	UTSW	16	90779083	missense	possibly damaging	0.89
R6838:Urb1	UTSW	16	90782106	missense	possibly damaging	0.93
R7237:Urb1	UTSW	16	90791166	missense	probably damaging	1.00
R7238:Urb1	UTSW	16	90752115	missense	possibly damaging	0.88
R7339:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7341:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7361:Urb1	UTSW	16	90774768	missense	probably damaging	0.99
R7365:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7366:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7440:Urb1	UTSW	16	90787408	missense	probably damaging	1.00
R7530:Urb1	UTSW	16	90761634	missense	probably damaging	1.00
R7553:Urb1	UTSW	16	90792864	missense	probably damaging	1.00
R7557:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7603:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7607:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7609:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7610:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7612:Urb1	UTSW	16	90797910	missense	probably damaging	1.00
R7613:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7684:Urb1	UTSW	16	90786118	nonsense	probably null
R8029:Urb1	UTSW	16	90779152	missense	possibly damaging	0.67
R8324:Urb1	UTSW	16	90791190	missense	probably damaging	1.00
R8680:Urb1	UTSW	16	90774625	missense	probably benign	0.00
R8785:Urb1	UTSW	16	90803423	missense	probably benign	0.07
R8914:Urb1	UTSW	16	90810234	missense	probably damaging	1.00
R8959:Urb1	UTSW	16	90774117	missense	probably benign	0.26
R9005:Urb1	UTSW	16	90753790	missense	probably benign	0.01
R9126:Urb1	UTSW	16	90769402	missense	possibly damaging	0.53
R9195:Urb1	UTSW	16	90792750	missense	probably benign	0.03
R9276:Urb1	UTSW	16	90772575	splice site	probably benign
R9534:Urb1	UTSW	16	90786208	missense	possibly damaging	0.54
Z1177:Urb1	UTSW	16	90753883	missense	probably benign	0.00
Z1177:Urb1	UTSW	16	90774862	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AAGACAAGCCTGGACATGCTGC -3'
(R):5'- TTGAGTACAGTGCCACACTGCC -3'

Sequencing Primer
(F):5'- TGGACATGCTGCAATGGC -3'
(R):5'- CATGCTTAGTGTGAAATGCCC -3'

Posted On

2013-06-12