Mutagenetix > Incidental Mutation

Incidental Mutation 'R6588:Urb2'

527422

Institutional Source

Beutler Lab

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

MMRRC Submission

044712-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R6588 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124748247-124775244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124757864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1190 (E1190D)

Ref Sequence

ENSEMBL: ENSMUSP00000133547 (fasta)

Gene Model

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

AlphaFold

E9Q7L1

Predicted Effect

probably damaging
Transcript: ENSMUST00000034457
AA Change: E1190D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: E1190D

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: E1190D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: E1190D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,340,766 (GRCm39)	S132P	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Homo
Clcn3	T	C	8: 61,367,861 (GRCm39)	I763V	probably benign	Het
Cpsf1	A	G	15: 76,481,022 (GRCm39)	Y1254H	probably damaging	Het
Erc1	C	T	6: 119,552,687 (GRCm39)	A1088T	possibly damaging	Het
Fhl4	A	G	10: 84,933,971 (GRCm39)	V270A	possibly damaging	Het
Ghr	T	C	15: 3,349,750 (GRCm39)	E476G	probably benign	Het
Ighv1-84	T	A	12: 115,944,371 (GRCm39)	Q101L	probably benign	Het
Itfg1	T	C	8: 86,462,759 (GRCm39)	I455V	probably benign	Het
Kitl	T	A	10: 99,899,954 (GRCm39)	N86K	probably damaging	Het
Kmt2c	C	T	5: 25,528,787 (GRCm39)	G1614E	probably damaging	Het
Lrrd1	A	G	5: 3,901,386 (GRCm39)	S564G	probably benign	Het
Lsm3	GATATATA	GATATATATA	6: 91,496,617 (GRCm39)		probably null	Het
Macroh2a1	C	T	13: 56,252,302 (GRCm39)	G97D	possibly damaging	Het
Mms19	C	T	19: 41,954,715 (GRCm39)	R68Q	probably damaging	Het
Or10aa1	G	T	1: 173,869,844 (GRCm39)	M109I	probably benign	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or7e173	G	T	9: 19,939,162 (GRCm39)	P24Q	probably damaging	Het
Zfp64	A	T	2: 168,768,827 (GRCm39)	C262S	probably damaging	Het

Other mutations in Urb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Urb2	APN	8	124,755,433 (GRCm39)	missense	probably damaging	1.00
IGL00705:Urb2	APN	8	124,763,376 (GRCm39)	missense	probably benign	0.00
IGL02090:Urb2	APN	8	124,754,976 (GRCm39)	missense	probably benign	0.28
IGL02707:Urb2	APN	8	124,757,425 (GRCm39)	missense	probably benign	0.04
IGL03103:Urb2	APN	8	124,756,491 (GRCm39)	missense	probably benign	0.17
IGL03402:Urb2	APN	8	124,756,588 (GRCm39)	missense	possibly damaging	0.92
R0037:Urb2	UTSW	8	124,773,934 (GRCm39)	missense	probably damaging	1.00
R0113:Urb2	UTSW	8	124,757,665 (GRCm39)	missense	probably benign	0.00
R0883:Urb2	UTSW	8	124,757,709 (GRCm39)	nonsense	probably null
R1015:Urb2	UTSW	8	124,756,173 (GRCm39)	missense	probably damaging	1.00
R1265:Urb2	UTSW	8	124,751,892 (GRCm39)	missense	probably damaging	1.00
R1463:Urb2	UTSW	8	124,757,647 (GRCm39)	missense	probably benign	0.04
R1497:Urb2	UTSW	8	124,754,816 (GRCm39)	missense	probably damaging	1.00
R1556:Urb2	UTSW	8	124,757,356 (GRCm39)	missense	probably damaging	1.00
R1622:Urb2	UTSW	8	124,756,363 (GRCm39)	missense	probably benign
R1914:Urb2	UTSW	8	124,756,537 (GRCm39)	missense	possibly damaging	0.81
R1915:Urb2	UTSW	8	124,756,537 (GRCm39)	missense	possibly damaging	0.81
R2172:Urb2	UTSW	8	124,757,841 (GRCm39)	missense	probably damaging	1.00
R2240:Urb2	UTSW	8	124,756,878 (GRCm39)	missense	probably benign	0.02
R2424:Urb2	UTSW	8	124,757,165 (GRCm39)	missense	probably benign	0.02
R4085:Urb2	UTSW	8	124,757,680 (GRCm39)	missense	probably benign	0.02
R4119:Urb2	UTSW	8	124,773,979 (GRCm39)	missense	probably benign	0.00
R4732:Urb2	UTSW	8	124,755,636 (GRCm39)	missense	probably damaging	1.00
R4733:Urb2	UTSW	8	124,755,636 (GRCm39)	missense	probably damaging	1.00
R4865:Urb2	UTSW	8	124,756,374 (GRCm39)	nonsense	probably null
R5005:Urb2	UTSW	8	124,757,920 (GRCm39)	missense	probably damaging	0.97
R5381:Urb2	UTSW	8	124,756,651 (GRCm39)	missense	probably benign	0.02
R5704:Urb2	UTSW	8	124,764,921 (GRCm39)	missense	probably damaging	0.97
R5891:Urb2	UTSW	8	124,757,595 (GRCm39)	missense	possibly damaging	0.64
R5958:Urb2	UTSW	8	124,756,398 (GRCm39)	missense	probably benign	0.01
R5966:Urb2	UTSW	8	124,754,827 (GRCm39)	missense	probably benign	0.00
R6133:Urb2	UTSW	8	124,755,300 (GRCm39)	nonsense	probably null
R6136:Urb2	UTSW	8	124,756,831 (GRCm39)	missense	probably benign
R6341:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6343:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6344:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6417:Urb2	UTSW	8	124,773,938 (GRCm39)	missense	probably damaging	1.00
R6420:Urb2	UTSW	8	124,773,938 (GRCm39)	missense	probably damaging	1.00
R6585:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6586:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6587:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R7061:Urb2	UTSW	8	124,755,036 (GRCm39)	missense	probably benign
R7090:Urb2	UTSW	8	124,757,338 (GRCm39)	missense	probably benign
R7371:Urb2	UTSW	8	124,755,008 (GRCm39)	missense	probably benign	0.00
R7467:Urb2	UTSW	8	124,755,250 (GRCm39)	missense	probably benign
R7542:Urb2	UTSW	8	124,755,327 (GRCm39)	missense	probably benign
R7545:Urb2	UTSW	8	124,756,491 (GRCm39)	missense	probably benign	0.00
R7686:Urb2	UTSW	8	124,771,911 (GRCm39)	missense	probably benign	0.01
R8046:Urb2	UTSW	8	124,754,771 (GRCm39)	missense	possibly damaging	0.92
R8101:Urb2	UTSW	8	124,754,779 (GRCm39)	missense	probably benign	0.01
R8404:Urb2	UTSW	8	124,751,942 (GRCm39)	missense	probably damaging	1.00
R8879:Urb2	UTSW	8	124,755,142 (GRCm39)	missense	probably benign	0.27
R9141:Urb2	UTSW	8	124,755,285 (GRCm39)	missense	probably damaging	1.00
R9174:Urb2	UTSW	8	124,767,987 (GRCm39)	missense	possibly damaging	0.75
R9184:Urb2	UTSW	8	124,771,890 (GRCm39)	missense	probably benign	0.10
R9270:Urb2	UTSW	8	124,750,192 (GRCm39)	unclassified	probably benign
R9304:Urb2	UTSW	8	124,757,247 (GRCm39)	missense	probably benign
R9309:Urb2	UTSW	8	124,754,809 (GRCm39)	missense	probably damaging	1.00
R9328:Urb2	UTSW	8	124,774,034 (GRCm39)	missense	probably damaging	1.00
R9415:Urb2	UTSW	8	124,756,613 (GRCm39)	missense	possibly damaging	0.72
R9426:Urb2	UTSW	8	124,755,285 (GRCm39)	missense	probably damaging	1.00
R9429:Urb2	UTSW	8	124,750,226 (GRCm39)	nonsense	probably null
R9741:Urb2	UTSW	8	124,755,751 (GRCm39)	missense	probably damaging	0.99
X0020:Urb2	UTSW	8	124,757,722 (GRCm39)	missense	possibly damaging	0.91
X0027:Urb2	UTSW	8	124,755,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCAAAATTGCTCAAGTGG -3'
(R):5'- GCAGCACAGAATCAGCTCAG -3'

Sequencing Primer
(F):5'- CCCAAAATTGCTCAAGTGGTGGATAC -3'
(R):5'- CATCAGTTACTTCAGTGCCAGGAG -3'

Posted On

2018-07-23