Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Ubl5'

460721

Institutional Source

Beutler Lab

Gene Symbol

Ubl5

Ensembl Gene

ENSMUSG00000084786

Gene Name

ubiquitin-like 5

Synonyms

BEACON, 1110030M22Rik

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20642878-20647140 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 20646534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124812 (fasta)

Gene Model

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

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

SMART Domains

Protein: ENSMUSP00000123971
Gene: ENSMUSG00000084786

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: ENSMUST00000153154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155280

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160124

SMART Domains

Protein: ENSMUSP00000125364
Gene: ENSMUSG00000084786

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

SMART Domains

Protein: ENSMUSP00000124672
Gene: ENSMUSG00000084786

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

unknown
Transcript: ENSMUST00000161882
AA Change: D73N

SMART Domains

Protein: ENSMUSP00000125540
Gene: ENSMUSG00000084786
AA Change: D73N

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

noncoding transcript
Transcript: ENSMUST00000161595

Predicted Effect

probably benign
Transcript: ENSMUST00000160874

Predicted Effect

probably benign
Transcript: ENSMUST00000161486

SMART Domains

Protein: ENSMUSP00000124506
Gene: ENSMUSG00000084786

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: ENSMUST00000162303

SMART Domains

Protein: ENSMUSP00000124812
Gene: ENSMUSG00000084786

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

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 benign
Transcript: ENSMUST00000161887

SMART Domains

Protein: ENSMUSP00000123843
Gene: ENSMUSG00000084786

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,306,822 (GRCm38)	I206N	probably damaging	Het
Aadac	T	A	3: 60,039,827 (GRCm38)	D315E	probably damaging	Het
Abcc8	A	G	7: 46,123,906 (GRCm38)	F800L	probably benign	Het
Adamts16	C	A	13: 70,728,910 (GRCm38)	C1204F	probably damaging	Het
Adcy7	A	G	8: 88,312,228 (GRCm38)	T291A	possibly damaging	Het
AI182371	G	T	2: 35,086,122 (GRCm38)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,801,784 (GRCm38)		probably benign	Het
Ak5	T	C	3: 152,615,952 (GRCm38)	D266G	probably damaging	Het
Ank1	A	T	8: 23,140,204 (GRCm38)	E93D	probably damaging	Het
Bop1	T	C	15: 76,455,917 (GRCm38)	D153G	probably damaging	Het
Bub1	G	T	2: 127,819,222 (GRCm38)	N316K	probably benign	Het
Capn1	T	C	19: 5,997,797 (GRCm38)	N412S	probably benign	Het
Cdca4	A	G	12: 112,821,719 (GRCm38)	S130P	probably benign	Het
Cdh23	A	T	10: 60,428,379 (GRCm38)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,749,642 (GRCm38)		probably benign	Het
Csmd2	C	T	4: 128,197,385 (GRCm38)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,997,371 (GRCm38)		probably benign	Het
Dnpep	C	T	1: 75,311,991 (GRCm38)		probably null	Het
Dop1b	A	T	16: 93,801,581 (GRCm38)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,820,920 (GRCm38)	D444N	probably damaging	Het
Emc9	C	T	14: 55,582,112 (GRCm38)		probably null	Het
Ero1b	T	A	13: 12,600,318 (GRCm38)	I346N	probably damaging	Het
Etv3	A	G	3: 87,535,543 (GRCm38)	T145A	probably benign	Het
Fam170a	T	A	18: 50,282,254 (GRCm38)		probably null	Het
Fap	A	T	2: 62,544,356 (GRCm38)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,045,337 (GRCm38)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,826,383 (GRCm38)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,896,503 (GRCm38)	H127L	unknown	Het
Gm8186	G	T	17: 26,099,156 (GRCm38)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,852,097 (GRCm38)	L370V	probably benign	Het
Hectd1	A	T	12: 51,798,754 (GRCm38)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,044,278 (GRCm38)		probably benign	Het
Ift140	A	G	17: 25,092,371 (GRCm38)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,849,578 (GRCm38)		probably null	Het
Itga4	C	T	2: 79,322,656 (GRCm38)	H896Y	probably benign	Het
Itga7	T	C	10: 128,942,981 (GRCm38)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,117,893 (GRCm38)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,235,577 (GRCm38)		probably null	Het
Klk15	A	G	7: 43,938,759 (GRCm38)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,464,706 (GRCm38)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,927,293 (GRCm38)		probably benign	Het
Laptm4b	A	G	15: 34,258,684 (GRCm38)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,434,097 (GRCm38)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,381,503 (GRCm38)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,612,050 (GRCm38)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,228,791 (GRCm38)		probably benign	Het
Nup133	A	G	8: 123,916,299 (GRCm38)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,805,983 (GRCm38)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,993,957 (GRCm38)	H188R	probably benign	Het
Or6n1	T	C	1: 174,089,219 (GRCm38)	Y60H	probably benign	Het
Or8k24	A	T	2: 86,385,874 (GRCm38)	S181R	probably damaging	Het
Osbp	C	T	19: 11,973,876 (GRCm38)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,066,150 (GRCm38)	D559E	probably benign	Het
Phldb2	G	T	16: 45,825,188 (GRCm38)	D343E	probably damaging	Het
Phrf1	T	A	7: 141,260,540 (GRCm38)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,930,651 (GRCm38)		probably null	Het
Plekhf1	A	T	7: 38,222,170 (GRCm38)		probably null	Het
Rars1	T	C	11: 35,828,648 (GRCm38)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,682,808 (GRCm38)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,615,682 (GRCm38)		probably null	Het
Scaf1	A	G	7: 45,013,592 (GRCm38)		probably benign	Het
Serpinb11	A	T	1: 107,372,189 (GRCm38)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,379,103 (GRCm38)	N174S	probably damaging	Het
Slc9a5	T	C	8: 105,357,175 (GRCm38)		probably null	Het
Slfn1	C	A	11: 83,121,176 (GRCm38)	N39K	possibly damaging	Het
Snx20	G	A	8: 88,627,295 (GRCm38)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,754,319 (GRCm38)	Y298H	probably damaging	Het
Stk32c	C	T	7: 139,120,674 (GRCm38)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm38)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,830,632 (GRCm38)	F50I	probably damaging	Het
Ubqln5	T	G	7: 104,128,574 (GRCm38)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,037,085 (GRCm38)	D22G	probably benign	Het
Vars1	A	G	17: 35,012,376 (GRCm38)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 19,812,453 (GRCm38)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,871 (GRCm38)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,391,066 (GRCm38)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,806,428 (GRCm38)		probably benign	Het
Zbtb2	A	T	10: 4,368,592 (GRCm38)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,239,988 (GRCm38)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,007,149 (GRCm38)		probably null	Het
Zfp629	G	A	7: 127,610,370 (GRCm38)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,541,173 (GRCm38)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,629,072 (GRCm38)	Y366N	probably benign	Het
Zp3	C	T	5: 135,988,523 (GRCm38)	T396I	probably benign	Het

Other mutations in Ubl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02252:Ubl5	APN	9	20,645,627 (GRCm38)	nonsense	probably null
R2307:Ubl5	UTSW	9	20,646,580 (GRCm38)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAACCTGAGGATGAGCATTTAAG -3'
(R):5'- TCTCACACAAGTATGACAGCAG -3'

Sequencing Primer
(F):5'- AAGAAAATGTATTGTTGTGTGTGTG -3'
(R):5'- CATCTACACCAGTGTCAGATGAGG -3'

Posted On

2017-02-28