Mutagenetix > Incidental Mutation

Incidental Mutation 'R6585:Urb2'

524346

Institutional Source

Beutler Lab

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

MMRRC Submission

044709-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R6585 (G1)

Quality Score

225.009

Status

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: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,885,534 (GRCm39)	C108Y	probably damaging	Het
Adam1b	G	T	5: 121,639,250 (GRCm39)	D598E	probably benign	Het
Agr2	G	A	12: 36,045,625 (GRCm39)	R37Q	probably benign	Het
Ascc3	A	G	10: 50,718,273 (GRCm39)	K1989E	probably benign	Het
Chd1l	A	G	3: 97,505,088 (GRCm39)	F160L	probably damaging	Het
Ciita	T	A	16: 10,329,609 (GRCm39)	V628E	probably benign	Het
Defa38	A	G	8: 21,585,248 (GRCm39)	C65R	possibly damaging	Het
Dis3l2	T	A	1: 86,673,216 (GRCm39)	I69N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Elp2	T	C	18: 24,758,606 (GRCm39)	L503S	probably damaging	Het
Fcgbp	A	T	7: 27,813,404 (GRCm39)	Q2313L	possibly damaging	Het
Gpr155	A	T	2: 73,179,989 (GRCm39)	I157N	probably damaging	Het
H2bc18	A	T	3: 96,177,413 (GRCm39)	T116S	probably benign	Het
Kcnj1	T	C	9: 32,308,557 (GRCm39)	V307A	probably benign	Het
Lama3	G	A	18: 12,552,314 (GRCm39)		probably null	Het
Lrp6	A	T	6: 134,484,521 (GRCm39)	Y367*	probably null	Het
Ms4a14	T	A	19: 11,281,009 (GRCm39)	Q516H	unknown	Het
Nprl3	C	T	11: 32,184,812 (GRCm39)	R399Q	probably benign	Het
Or13c3	A	T	4: 52,856,192 (GRCm39)	M107K	possibly damaging	Het
Or5ae1	A	T	7: 84,565,670 (GRCm39)	I228F	probably damaging	Het
Park7	G	T	4: 150,989,721 (GRCm39)	Q80K	probably benign	Het
Pramel15	C	A	4: 144,103,600 (GRCm39)	L175F	possibly damaging	Het
Pramel52-ps	C	T	5: 94,529,415 (GRCm39)	P62S	probably benign	Het
Ptgs2	T	C	1: 149,979,738 (GRCm39)	V281A	possibly damaging	Het
Rprd1a	T	C	18: 24,639,720 (GRCm39)		probably null	Het
Speer4f2	A	G	5: 17,579,420 (GRCm39)	E73G	probably damaging	Het
Spta1	T	C	1: 174,006,251 (GRCm39)	W138R	probably damaging	Het
U2surp	T	C	9: 95,354,124 (GRCm39)	E838G	probably damaging	Het
Usp19	G	T	9: 108,376,926 (GRCm39)	L1165F	probably damaging	Het
Zfp27	G	A	7: 29,595,818 (GRCm39)	T49I	possibly 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
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
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'- TGCAGCACAGAATCAGCTCAG -3'

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

Posted On

2018-06-22