Mutagenetix > Incidental Mutation

Incidental Mutation 'R9174:Urb2'

696582

Institutional Source

Beutler Lab

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

MMRRC Submission

068977-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R9174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124748247-124775244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124767987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1411 (D1411G)

Ref Sequence

ENSEMBL: ENSMUSP00000034457 (fasta)

Gene Model

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

AlphaFold

E9Q7L1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034457
AA Change: D1411G

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: D1411G

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

SMART Domains

Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap1	A	G	11: 88,725,991 (GRCm39)	Y737H	probably damaging	Het
Arap2	A	T	5: 62,855,606 (GRCm39)	V610E	probably damaging	Het
Arf1	G	A	11: 59,103,433 (GRCm39)	T158I	probably damaging	Het
Atat1	T	C	17: 36,220,032 (GRCm39)	K90R	probably benign	Het
Cfap70	C	A	14: 20,493,706 (GRCm39)	G132W	probably damaging	Het
Cpne9	T	A	6: 113,279,032 (GRCm39)	D475E	probably damaging	Het
Dapp1	T	C	3: 137,638,916 (GRCm39)	D270G	probably benign	Het
Dnajc21	A	T	15: 10,462,076 (GRCm39)	Y108*	probably null	Het
Etv4	A	G	11: 101,662,705 (GRCm39)		probably null	Het
Fes	C	A	7: 80,030,631 (GRCm39)	V555F	probably damaging	Het
Gm14496	A	C	2: 181,642,797 (GRCm39)	I823L	possibly damaging	Het
H2-M9	A	C	17: 36,953,181 (GRCm39)	L42R	probably damaging	Het
Ifitm2	A	T	7: 140,535,013 (GRCm39)	I107N	probably damaging	Het
Impg1	T	C	9: 80,252,750 (GRCm39)	T477A	probably damaging	Het
Inca1	G	A	11: 70,580,732 (GRCm39)	P78S	possibly damaging	Het
Khk	A	G	5: 31,085,819 (GRCm39)	E126G	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Mars1	A	T	10: 127,135,237 (GRCm39)	I618N	probably damaging	Het
Mgl2	C	A	11: 70,026,606 (GRCm39)	F110L	probably benign	Het
Mon1b	A	G	8: 114,365,689 (GRCm39)	D339G	probably damaging	Het
Pfdn2	G	C	1: 171,184,164 (GRCm39)	E48Q	probably damaging	Het
Pilra	A	G	5: 137,833,898 (GRCm39)	I56T	probably damaging	Het
Ptpru	A	T	4: 131,535,746 (GRCm39)	N410K	probably damaging	Het
Sema3c	T	C	5: 17,868,039 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,295,893 (GRCm39)	E1052G	probably benign	Het
Stau1	A	G	2: 166,791,269 (GRCm39)	C495R	probably damaging	Het
Ubap1l	T	A	9: 65,284,289 (GRCm39)	H339Q	probably benign	Het
Ush2a	T	A	1: 188,460,416 (GRCm39)	I2559N	probably damaging	Het
Vipas39	A	T	12: 87,305,885 (GRCm39)	S103T	possibly damaging	Het
Vrk1	G	A	12: 106,002,811 (GRCm39)	R3H	probably benign	Het
Wdr46	G	T	17: 34,167,668 (GRCm39)	R493L	possibly damaging	Het
Zbtb8a	T	C	4: 129,254,125 (GRCm39)	D123G	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
R6588: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
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'- GTCACTTTAGGGAAAGATGTGC -3'
(R):5'- CACCTTAGTTCGGTGGTTTTAC -3'

Sequencing Primer
(F):5'- CCTCTTTTGTGTCTGCCAGGTAAG -3'
(R):5'- GGATGACTGTGAGCATCAACTTC -3'

Posted On

2022-02-07