Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02252:Ubl5'

286431

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubl5

Ensembl Gene

ENSMUSG00000084786

Gene Name

ubiquitin-like 5

Synonyms

BEACON, Ubl5a, 1110030M22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

IGL02252

Quality Score

Status

Chromosome

Chromosomal Location

20554174-20558436 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 20556923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 56 (R56*)

Ref Sequence

ENSEMBL: ENSMUSP00000124506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086458] [ENSMUST00000086459] [ENSMUST00000129414] [ENSMUST00000131128] [ENSMUST00000131343] [ENSMUST00000148631] [ENSMUST00000151861] [ENSMUST00000161486] [ENSMUST00000160124] [ENSMUST00000162303] [ENSMUST00000160682] [ENSMUST00000161882] [ENSMUST00000161887] [ENSMUST00000160874] [ENSMUST00000155301]

AlphaFold

Q9EPV8

Predicted Effect

probably benign
Transcript: ENSMUST00000086458

SMART Domains

Protein: ENSMUSP00000083649
Gene: ENSMUSG00000066892

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	50	238	4e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086459

SMART Domains

Protein: ENSMUSP00000083650
Gene: ENSMUSG00000066892

Domain	Start	End	E-Value	Type
FBOX	7	46	1.14e-8	SMART
SCOP:d1fqva2	103	291	5e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129414
AA Change: T49M

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123971
Gene: ENSMUSG00000084786
AA Change: T49M

Domain	Start	End	E-Value	Type
Pfam:Ubiquitin_2	2	71	6.3e-7	PFAM
Pfam:ubiquitin	8	73	7.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131128

SMART Domains

Protein: ENSMUSP00000115058
Gene: ENSMUSG00000066892

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	50	238	4e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131343

Predicted Effect

probably benign
Transcript: ENSMUST00000148631

SMART Domains

Protein: ENSMUSP00000119124
Gene: ENSMUSG00000066892

Domain	Start	End	E-Value	Type
FBOX	7	46	1.14e-8	SMART
SCOP:d1fqva2	103	291	5e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151861

SMART Domains

Protein: ENSMUSP00000121429
Gene: ENSMUSG00000066892

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	50	238	4e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161834

SMART Domains

Protein: ENSMUSP00000133396
Gene: ENSMUSG00000084786

Domain	Start	End	E-Value	Type
Blast:UBQ	27	58	7e-8	BLAST
PDB:1P0R\|A	27	58	3e-12	PDB
SCOP:d1j8ca_	29	54	1e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000161486
AA Change: R56*

SMART Domains

Protein: ENSMUSP00000124506
Gene: ENSMUSG00000084786
AA Change: R56*

Domain	Start	End	E-Value	Type
PDB:1UH6\|A	1	50	4e-27	PDB
Blast:UBQ	2	49	4e-21	BLAST
SCOP:d1j8ca_	12	46	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160124
AA Change: T49M

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125364
Gene: ENSMUSG00000084786
AA Change: T49M

Domain	Start	End	E-Value	Type
Pfam:Ubiquitin_2	2	71	6.3e-7	PFAM
Pfam:ubiquitin	8	73	7.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162303
AA Change: T49M

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124812
Gene: ENSMUSG00000084786
AA Change: T49M

Domain	Start	End	E-Value	Type
Pfam:Ubiquitin_2	2	71	6.3e-7	PFAM
Pfam:ubiquitin	8	73	7.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160682
AA Change: T49M

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124672
Gene: ENSMUSG00000084786
AA Change: T49M

Domain	Start	End	E-Value	Type
Pfam:Ubiquitin_2	2	71	6.3e-7	PFAM
Pfam:ubiquitin	8	73	7.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161882
AA Change: T49M

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125540
Gene: ENSMUSG00000084786
AA Change: T49M

Domain	Start	End	E-Value	Type
PDB:1UH6\|A	1	113	5e-41	PDB
Blast:UBQ	2	113	1e-30	BLAST
SCOP:d1j8ca_	12	60	3e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161887
AA Change: T49M

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123843
Gene: ENSMUSG00000084786
AA Change: T49M

Domain	Start	End	E-Value	Type
PDB:1UH6\|A	1	56	7e-36	PDB
Blast:UBQ	2	56	2e-27	BLAST
SCOP:d1j8ca_	12	56	1e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155280

Predicted Effect

probably benign
Transcript: ENSMUST00000160874

Predicted Effect

probably benign
Transcript: ENSMUST00000155301

SMART Domains

Protein: ENSMUSP00000118369
Gene: ENSMUSG00000066892

Domain	Start	End	E-Value	Type
FBOX	7	46	1.14e-8	SMART
low complexity region	65	76	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,444,678 (GRCm39)		probably benign	Het
Actl7b	A	T	4: 56,741,205 (GRCm39)	I51N	probably damaging	Het
Adamts12	A	G	15: 11,311,101 (GRCm39)	I1119M	probably benign	Het
Apol10a	T	A	15: 77,372,670 (GRCm39)	V102D	probably benign	Het
Atrx	T	C	X: 104,889,429 (GRCm39)	E1628G	possibly damaging	Het
Btnl2	C	T	17: 34,584,364 (GRCm39)	S429F	possibly damaging	Het
C4bp	C	A	1: 130,564,524 (GRCm39)	D387Y	probably damaging	Het
Ceacam23	G	T	7: 17,644,457 (GRCm39)	V525F	possibly damaging	Het
Crybg3	G	T	16: 59,372,887 (GRCm39)		probably benign	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Efcab3	C	A	11: 104,644,753 (GRCm39)	R1114S	possibly damaging	Het
Elp1	G	T	4: 56,759,813 (GRCm39)	Q1151K	probably benign	Het
Fign	A	G	2: 63,810,983 (GRCm39)	S96P	probably benign	Het
Ggt5	A	G	10: 75,438,566 (GRCm39)	I96V	possibly damaging	Het
Gm3238	A	G	10: 77,606,691 (GRCm39)		probably benign	Het
Gm4792	G	T	10: 94,131,102 (GRCm39)	P69Q	unknown	Het
Ighv1-58	A	T	12: 115,275,897 (GRCm39)	N80K	possibly damaging	Het
Irgm1	C	T	11: 48,756,981 (GRCm39)	G277S	possibly damaging	Het
Jsrp1	A	G	10: 80,644,707 (GRCm39)	V233A	probably benign	Het
Kcp	T	A	6: 29,504,548 (GRCm39)	R85W	probably damaging	Het
Kif14	T	C	1: 136,406,130 (GRCm39)	Y565H	probably damaging	Het
Klk1b4	G	A	7: 43,860,094 (GRCm39)	W69*	probably null	Het
Knl1	A	T	2: 118,903,021 (GRCm39)	Q1574L	probably damaging	Het
Lao1	A	G	4: 118,824,613 (GRCm39)	N232D	probably benign	Het
Lipn	A	G	19: 34,049,157 (GRCm39)	I108V	probably benign	Het
Lrrc49	T	A	9: 60,595,142 (GRCm39)	M1L	probably benign	Het
Matn2	G	T	15: 34,316,736 (GRCm39)	R26L	probably damaging	Het
Mmp16	G	A	4: 18,110,523 (GRCm39)	D440N	probably damaging	Het
Mn1	G	A	5: 111,569,107 (GRCm39)	A1026T	probably damaging	Het
Mrgpra1	A	T	7: 46,984,912 (GRCm39)	F256I	probably benign	Het
Msantd3	A	C	4: 48,560,869 (GRCm39)	E148D	probably benign	Het
Mylk3	G	T	8: 86,082,105 (GRCm39)	L361I	probably benign	Het
Nlrp12	A	G	7: 3,293,980 (GRCm39)	S117P	probably benign	Het
Nsmaf	T	C	4: 6,398,378 (GRCm39)	E870G	probably benign	Het
Oplah	T	C	15: 76,188,964 (GRCm39)	T320A	probably damaging	Het
Or5p50	C	A	7: 107,422,353 (GRCm39)	A108S	probably benign	Het
Or7g34	T	A	9: 19,478,267 (GRCm39)	I138F	probably damaging	Het
Pard3	T	G	8: 128,125,237 (GRCm39)	S729A	probably benign	Het
Pdzd9	T	C	7: 120,262,238 (GRCm39)	I75V	probably benign	Het
Pgf	A	G	12: 85,216,199 (GRCm39)		probably benign	Het
Phf1	T	A	17: 27,154,109 (GRCm39)	V140D	possibly damaging	Het
Pkd1l3	T	C	8: 110,357,708 (GRCm39)	S775P	possibly damaging	Het
Rhobtb1	A	T	10: 69,085,515 (GRCm39)	T85S	probably damaging	Het
Sez6	T	A	11: 77,865,339 (GRCm39)	Y659N	probably damaging	Het
Sfmbt1	T	C	14: 30,539,690 (GRCm39)	L826P	probably damaging	Het
Sftpd	T	A	14: 40,894,471 (GRCm39)	D316V	probably damaging	Het
Shc2	T	C	10: 79,462,204 (GRCm39)	D313G	probably benign	Het
Snrk	T	C	9: 121,986,326 (GRCm39)	Y232H	probably damaging	Het
Sntg1	G	T	1: 8,484,452 (GRCm39)	P456Q	probably benign	Het
Sorbs1	A	T	19: 40,302,841 (GRCm39)	N783K	probably damaging	Het
Stag3	A	T	5: 138,300,810 (GRCm39)	I923F	probably damaging	Het
Tep1	T	A	14: 51,067,712 (GRCm39)	H2168L	possibly damaging	Het
Tmem132c	A	T	5: 127,539,991 (GRCm39)	N339I	possibly damaging	Het
Trim34b	A	G	7: 103,979,139 (GRCm39)	T129A	probably damaging	Het
Ttc21a	T	C	9: 119,785,994 (GRCm39)	L664P	probably damaging	Het
Ubox5	G	A	2: 130,441,707 (GRCm39)	R327W	probably damaging	Het
Ubr5	G	T	15: 38,025,138 (GRCm39)	A546E	probably damaging	Het
Umodl1	T	C	17: 31,213,789 (GRCm39)		probably null	Het
Unc45a	T	C	7: 79,982,717 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,101 (GRCm39)	T73I	probably benign	Het
Vmn2r67	T	G	7: 84,805,008 (GRCm39)	N35H	probably benign	Het
Vmn2r74	A	G	7: 85,606,531 (GRCm39)	Y272H	probably benign	Het
Wdr43	T	A	17: 71,933,845 (GRCm39)	D147E	probably damaging	Het
Zfp352	A	T	4: 90,112,367 (GRCm39)	D169V	probably benign	Het
Zim1	A	T	7: 6,691,627 (GRCm39)	N15K	unknown	Het

Other mutations in Ubl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2307:Ubl5	UTSW	9	20,557,876 (GRCm39)	intron	probably benign
R5907:Ubl5	UTSW	9	20,557,830 (GRCm39)	intron	probably benign

Posted On

2015-04-16