Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00567:Ube2l6'

13535

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2l6

Ensembl Gene

ENSMUSG00000027078

Gene Name

ubiquitin-conjugating enzyme E2L 6

Synonyms

UBCH8, Ubce8, 2810489I21Rik, Ubcm8, RIG-B

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL00567

Quality Score

Status

Chromosome

Chromosomal Location

84629172-84640347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84639382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 115 (P115L)

Ref Sequence

ENSEMBL: ENSMUSP00000099702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028471] [ENSMUST00000102642] [ENSMUST00000150325]

AlphaFold

Q9QZU9

Predicted Effect

probably benign
Transcript: ENSMUST00000028471

SMART Domains

Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077

Domain	Start	End	E-Value	Type
low complexity region	56	72	N/A	INTRINSIC
coiled coil region	124	154	N/A	INTRINSIC
low complexity region	218	230	N/A	INTRINSIC
low complexity region	236	246	N/A	INTRINSIC
low complexity region	260	285	N/A	INTRINSIC
CH	345	444	5.55e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102642
AA Change: P115L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099702
Gene: ENSMUSG00000027078
AA Change: P115L

Domain	Start	End	E-Value	Type
UBCc	5	149	1.03e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150325

SMART Domains

Protein: ENSMUSP00000119507
Gene: ENSMUSG00000027078

Domain	Start	End	E-Value	Type
PDB:2KJH\|A	1	88	6e-18	PDB
SCOP:d1c4zd_	3	40	7e-7	SMART
Blast:UBCc	4	89	4e-26	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159150

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,990,747 (GRCm39)	N4010K	probably benign	Het
Atm	G	T	9: 53,414,416 (GRCm39)	Y891*	probably null	Het
Cfap70	C	T	14: 20,444,748 (GRCm39)	V1083I	probably benign	Het
Col5a2	T	A	1: 45,432,037 (GRCm39)		probably benign	Het
Dsg1c	T	C	18: 20,407,733 (GRCm39)	S360P	probably damaging	Het
Fam162b	C	T	10: 51,466,390 (GRCm39)	G43E	possibly damaging	Het
Gata6	A	G	18: 11,084,330 (GRCm39)	M540V	possibly damaging	Het
Gnl3l	A	T	X: 149,777,242 (GRCm39)		probably null	Het
Mark2	T	C	19: 7,318,549 (GRCm39)	E13G	possibly damaging	Het
Myo16	A	C	8: 10,512,154 (GRCm39)	I778L	probably damaging	Het
Postn	T	C	3: 54,291,944 (GRCm39)	V715A	probably benign	Het
Prl3c1	A	G	13: 27,384,695 (GRCm39)	E68G	possibly damaging	Het
Ptch1	C	A	13: 63,674,989 (GRCm39)	S741I	probably benign	Het
Rbm8a2	T	C	1: 175,806,228 (GRCm39)	E83G	possibly damaging	Het
Scyl2	C	T	10: 89,493,671 (GRCm39)		probably null	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Tgm6	A	G	2: 129,978,415 (GRCm39)	D83G	probably benign	Het
Ugt2b37	A	T	5: 87,401,933 (GRCm39)	W233R	probably damaging	Het
Ush2a	A	G	1: 188,697,114 (GRCm39)	T5191A	probably damaging	Het
Wdfy3	G	T	5: 102,059,896 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,414,539 (GRCm39)		probably benign	Het

Other mutations in Ube2l6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Ube2l6	APN	2	84,639,373 (GRCm39)	missense	probably damaging	1.00
IGL02000:Ube2l6	APN	2	84,639,506 (GRCm39)	unclassified	probably benign
IGL02931:Ube2l6	APN	2	84,633,195 (GRCm39)	missense	probably damaging	0.99
R0129:Ube2l6	UTSW	2	84,629,252 (GRCm39)	start codon destroyed	probably null	0.17
R0277:Ube2l6	UTSW	2	84,636,771 (GRCm39)	splice site	probably null
R1612:Ube2l6	UTSW	2	84,636,717 (GRCm39)	missense	probably damaging	1.00
R3923:Ube2l6	UTSW	2	84,639,418 (GRCm39)	missense	possibly damaging	0.85
R5137:Ube2l6	UTSW	2	84,633,220 (GRCm39)	critical splice donor site	probably null
R6660:Ube2l6	UTSW	2	84,636,852 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-12-06