Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03103:Urb2'

418829

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL03103

Quality Score

Status

Chromosome

Chromosomal Location

124748247-124775244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 124756491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 733 (S733A)

Ref Sequence

ENSEMBL: ENSMUSP00000034457 (fasta)

Gene Model

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

AlphaFold

E9Q7L1

Predicted Effect

probably benign
Transcript: ENSMUST00000034457
AA Change: S733A

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: S733A

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: S733A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: S733A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc27	A	T	11: 104,403,806 (GRCm39)	F652Y	probably benign	Het
Cntn5	T	C	9: 9,972,817 (GRCm39)		probably benign	Het
Ctsc	A	G	7: 87,959,013 (GRCm39)	N431S	probably benign	Het
Ddi2	A	G	4: 141,430,479 (GRCm39)	M235T	probably damaging	Het
Dgkg	G	A	16: 22,399,275 (GRCm39)	P220S	probably damaging	Het
Gpr180	A	T	14: 118,377,175 (GRCm39)	I59F	possibly damaging	Het
Haspin	A	T	11: 73,027,526 (GRCm39)	V521D	probably damaging	Het
Itprid1	A	G	6: 55,945,144 (GRCm39)	T622A	possibly damaging	Het
Kif16b	G	T	2: 142,704,408 (GRCm39)	T57N	probably damaging	Het
Lmbr1	A	G	5: 29,440,014 (GRCm39)	F422S	probably damaging	Het
Lpcat2b	A	T	5: 107,581,414 (GRCm39)	N248Y	probably damaging	Het
Lrch3	T	C	16: 32,772,507 (GRCm39)	V163A	probably damaging	Het
Lrrc49	A	G	9: 60,592,316 (GRCm39)		probably null	Het
Mon2	T	A	10: 122,866,008 (GRCm39)		probably benign	Het
Mroh4	T	C	15: 74,488,008 (GRCm39)	S374G	possibly damaging	Het
Nr1h3	T	A	2: 91,022,360 (GRCm39)	K89N	probably damaging	Het
Or4c29	A	T	2: 88,740,522 (GRCm39)	S72T	probably benign	Het
Or52w1	A	G	7: 105,017,785 (GRCm39)	D75G	probably damaging	Het
Or8b49	A	G	9: 38,505,823 (GRCm39)	Y102C	probably damaging	Het
Phldb3	C	T	7: 24,323,601 (GRCm39)	P445L	possibly damaging	Het
Pstpip1	G	T	9: 56,021,592 (GRCm39)	V39L	possibly damaging	Het
Sbf1	A	T	15: 89,178,150 (GRCm39)	L1560Q	probably damaging	Het
Sco1	C	T	11: 66,946,568 (GRCm39)	Q114*	probably null	Het
Slc29a4	A	G	5: 142,697,835 (GRCm39)	H96R	probably damaging	Het
Slitrk6	A	G	14: 110,987,373 (GRCm39)	L778P	probably benign	Het
Tas2r110	A	G	6: 132,845,443 (GRCm39)	Q158R	probably benign	Het
Tle3	A	G	9: 61,300,524 (GRCm39)	I92V	possibly damaging	Het
Ttn	T	A	2: 76,579,266 (GRCm39)	M15549L	possibly damaging	Het
Vcl	T	C	14: 21,074,348 (GRCm39)	W912R	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
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
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

Posted On

2016-08-02