Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Urb2'

548270

Institutional Source

Beutler Lab

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124021508-124048505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124028297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 248 (H248Y)

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: H248Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: H248Y

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 benign
Transcript: ENSMUST00000173168
AA Change: H248Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: H248Y

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,545,065	M660T	probably benign	Het
Aard	G	A	15: 52,040,221	M13I	probably benign	Het
Abcb5	A	C	12: 118,877,774	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,569,881	V4L	probably benign	Het
Ap3b2	C	T	7: 81,461,009	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,992,316	T343S	probably benign	Het
Celsr3	T	A	9: 108,847,594	C2957*	probably null	Het
Chd6	G	A	2: 161,025,965	Q428*	probably null	Het
Col5a1	C	A	2: 28,025,678	C191*	probably null	Het
Cpox	A	G	16: 58,670,860	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,274,171	R268C	probably benign	Het
Dclk2	A	G	3: 86,831,731		probably null	Het
Dennd5a	T	C	7: 109,905,179	E909G	probably benign	Het
Depdc1a	T	A	3: 159,522,852	S414T	possibly damaging	Het
Dock5	A	G	14: 67,770,254	F1502S	probably damaging	Het
Dopey2	G	T	16: 93,762,063	A448S	probably benign	Het
Dsg1c	C	A	18: 20,277,009	N511K	probably benign	Het
Epc2	G	T	2: 49,535,322	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375	I147F	probably benign	Het
Evc	T	C	5: 37,319,102	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,475,466	R738S	probably benign	Het
Fli1	T	C	9: 32,424,222	T305A	probably damaging	Het
Gm4969	A	T	7: 19,100,128		probably benign	Het
Gm8897	T	C	5: 11,419,104	V74A	possibly damaging	Het
Grk5	A	G	19: 61,046,092	T93A	probably benign	Het
Grm2	A	T	9: 106,651,225	N153K	probably damaging	Het
Helz	A	G	11: 107,649,177	T1007A	possibly damaging	Het
Helz2	A	G	2: 181,240,514	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,666,148	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,336,126	K218E	unknown	Het
Hydin	A	T	8: 110,603,288	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,309,902		probably null	Het
Igfals	T	C	17: 24,880,307	L124P	probably damaging	Het
Il24	T	A	1: 130,883,371	H142L	possibly damaging	Het
Kcnh2	A	T	5: 24,331,922	H221Q	probably benign	Het
Man1a	A	G	10: 53,920,235	S454P	probably damaging	Het
Mfsd4b1	C	T	10: 40,003,386	V172M	possibly damaging	Het
Mical2	T	A	7: 112,346,801	I763K	probably benign	Het
Mybpc3	A	G	2: 91,125,404	I594M	possibly damaging	Het
Neo1	T	A	9: 58,990,441	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,922,867	I265M	probably benign	Het
Olfr1350	A	G	7: 6,570,783	Y264C	probably damaging	Het
Olfr669	T	C	7: 104,938,676	L50P	probably damaging	Het
Olfr877	T	A	9: 37,855,646	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,731,923	P257Q	probably benign	Het
Phactr1	A	G	13: 43,132,981	D586G	probably damaging	Het
Pkn3	T	A	2: 30,083,536		probably null	Het
Prob1	A	T	18: 35,654,500	S234T	probably benign	Het
Rab14	A	T	2: 35,183,417	L131*	probably null	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,879,283	L103P	probably damaging	Het
Rnf10	G	T	5: 115,257,090	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,989,167	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,868,064	T575I	probably benign	Het
Smo	A	G	6: 29,760,230	H776R	probably damaging	Het
Tns2	A	G	15: 102,104,479	M1V	probably null	Het
Ttn	C	A	2: 76,894,692		probably benign	Het
Ugt3a1	A	T	15: 9,306,154	M130L	probably benign	Het
Vit	A	T	17: 78,625,156	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,544,311	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,363,754	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,671,072	I876V	probably benign	Het
Zfp442	A	G	2: 150,408,017	I655T	probably benign	Het
Zfp574	T	A	7: 25,080,197	C215S	possibly damaging	Het
Zfp608	T	C	18: 54,987,997	T173A	probably benign	Het
Zfp69	A	T	4: 120,931,401	V239D	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
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
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'- AACCCTAAGCGTGTCTTTGG -3'
(R):5'- ACTGGCTTTCTTCCTGAAGG -3'

Sequencing Primer
(F):5'- GGAGATATGACTGGACACCTCTTTC -3'
(R):5'- CTTCCTGAAGGTATGCTTCCAGAAAG -3'

Posted On

2019-05-13