Mutagenetix > Incidental Mutations

Incidental Mutation 'R2172:Urb2'

237561

Institutional Source

Beutler Lab

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

MMRRC Submission

040174-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R2172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124021508-124048505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124031102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1183 (T1183A)

Ref Sequence

ENSEMBL: ENSMUSP00000133547 (fasta)

Gene Model

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

AlphaFold

E9Q7L1

Predicted Effect

probably benign
Transcript: ENSMUST00000034457
AA Change: T1183A

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: T1183A

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 damaging
Transcript: ENSMUST00000173168
AA Change: T1183A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: T1183A

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 37,990,560	E441V	probably damaging	Het
Arfip2	T	A	7: 105,637,988	D64V	probably damaging	Het
Atg9a	C	A	1: 75,185,685	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,590,548	I308L	probably benign	Het
Bcan	T	A	3: 87,996,581	Y199F	probably damaging	Het
Bsn	T	C	9: 108,109,992		probably benign	Het
Ccdc158	A	T	5: 92,632,508	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,124,512	Y492C	probably benign	Het
Dnah9	G	T	11: 66,072,779	H1783N	probably damaging	Het
Dpep2	A	G	8: 105,988,998	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,045,502	Y282H	probably damaging	Het
Egfr	C	T	11: 16,911,562	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,700,133	S560P	probably damaging	Het
Gm10696	T	G	3: 94,176,298	K69Q	possibly damaging	Het
Gm14295	G	A	2: 176,811,102	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,382,127	V51I	probably benign	Het
Gsap	G	A	5: 21,222,440		probably null	Het
Hecw1	T	A	13: 14,377,706	I103F	probably damaging	Het
Herc3	T	A	6: 58,887,437	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,382,816	D244E	probably benign	Het
Hydin	A	G	8: 110,582,049	E3989G	probably benign	Het
Ibsp	T	C	5: 104,310,430	Y278H	probably damaging	Het
Ift57	T	G	16: 49,759,340	N291K	probably benign	Het
Il15ra	A	G	2: 11,723,571	T149A	possibly damaging	Het
Ints5	C	T	19: 8,896,282	T535I	possibly damaging	Het
Jarid2	T	C	13: 44,902,539	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Lrrc49	A	G	9: 60,602,682	V429A	probably benign	Het
Lsm3	T	C	6: 91,522,272	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map1a	G	T	2: 121,307,932	V2726L	probably damaging	Het
Marveld3	A	C	8: 109,961,846	S88A	probably benign	Het
Mcm9	T	C	10: 53,548,574	D640G	probably damaging	Het
Mettl4	A	G	17: 94,733,163	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,378	L274*	probably null	Het
Nacc2	A	C	2: 26,060,223	D500E	probably benign	Het
Nprl3	T	A	11: 32,234,894	M372L	probably benign	Het
Olfr478	A	T	7: 108,031,467	I292N	probably damaging	Het
Otud7b	T	G	3: 96,153,520		probably null	Het
Pcx	G	A	19: 4,620,881	R1070H	probably benign	Het
Ptprq	C	T	10: 107,590,994	W1560*	probably null	Het
Puf60	A	T	15: 76,070,464	I520N	probably damaging	Het
Qars	C	T	9: 108,509,200	R143C	probably damaging	Het
Rfx3	G	A	19: 27,815,494	Q322*	probably null	Het
Samd14	G	T	11: 95,014,391	V10L	probably benign	Het
Setd2	G	A	9: 110,549,844	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,296,664	S117P	probably benign	Het
Sharpin	C	A	15: 76,350,666		probably benign	Het
Skor1	C	A	9: 63,145,122	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,774	T375A	probably benign	Het
Sparc	G	A	11: 55,395,801	Q324*	probably null	Het
Srebf1	T	C	11: 60,206,502	T171A	probably benign	Het
Srrd	A	G	5: 112,341,122	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,196,417	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,211,456	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,217,420	S516N	probably damaging	Het
Trpa1	T	A	1: 14,881,656	T940S	probably benign	Het
Trpv4	G	A	5: 114,644,710	R64C	probably damaging	Het
Tufm	A	G	7: 126,488,847	E174G	probably benign	Het
Virma	A	T	4: 11,527,843	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,474,615	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,810,767	F277L	probably damaging	Het
Zfp683	C	T	4: 134,055,795	T190I	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
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
R6133:Urb2	UTSW	8	124028561	nonsense	probably null
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
R8879:Urb2	UTSW	8	124028403	missense	probably benign	0.27
R9141:Urb2	UTSW	8	124028546	missense	probably damaging	1.00
R9174:Urb2	UTSW	8	124041248	missense	possibly damaging	0.75
R9184:Urb2	UTSW	8	124045151	missense	probably benign	0.10
R9304:Urb2	UTSW	8	124030508	missense	probably benign
R9309:Urb2	UTSW	8	124028070	missense	probably damaging	1.00
R9328:Urb2	UTSW	8	124047295	missense	probably damaging	1.00
R9415:Urb2	UTSW	8	124029874	missense	possibly damaging	0.72
R9426:Urb2	UTSW	8	124028546	missense	probably damaging	1.00
R9429:Urb2	UTSW	8	124023487	nonsense	probably null
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'- AGTAGACATGAGCCAGCACCTC -3'
(R):5'- TGCAGCACAGAATCAGCTCAG -3'

Sequencing Primer
(F):5'- ACCTCAGGGACGGACAG -3'
(R):5'- CAGTTACTTCAGTGCCAGGAGATC -3'

Posted On

2014-10-02