Mutagenetix > Incidental Mutation

Incidental Mutation 'R3923:Ube2l6'

307012

Institutional Source

Beutler Lab

Gene Symbol

Ube2l6

Ensembl Gene

ENSMUSG00000027078

Gene Name

ubiquitin-conjugating enzyme E2L 6

Synonyms

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

MMRRC Submission

040820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R3923 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84629172-84640347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84639418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 127 (D127G)

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: D127G

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099702
Gene: ENSMUSG00000027078
AA Change: D127G

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

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,180,514 (GRCm39)	M528V	possibly damaging	Het
Ano3	T	A	2: 110,601,304 (GRCm39)	Y318F	probably damaging	Het
Asic4	T	A	1: 75,427,871 (GRCm39)	D132E	probably damaging	Het
Atp2b2	A	G	6: 113,774,069 (GRCm39)		probably null	Het
Cast	T	C	13: 74,876,532 (GRCm39)	E447G	probably damaging	Het
Ccdc110	T	C	8: 46,395,426 (GRCm39)	I439T	probably damaging	Het
Ccdc50	A	T	16: 27,263,294 (GRCm39)	R264S	probably damaging	Het
Cdhr18	T	A	14: 13,865,990 (GRCm38)	K300*	probably null	Het
Chd9	T	A	8: 91,660,147 (GRCm39)	V369E	probably benign	Het
Cnnm1	A	G	19: 43,428,884 (GRCm39)	M1V	probably null	Het
Col4a1	T	A	8: 11,251,665 (GRCm39)		probably benign	Het
Crtac1	A	G	19: 42,322,386 (GRCm39)	V118A	probably damaging	Het
Ddx59	T	A	1: 136,344,482 (GRCm39)	V51D	probably benign	Het
Dipk1c	A	T	18: 84,748,812 (GRCm39)	T137S	probably damaging	Het
Dtd2	G	C	12: 52,051,734 (GRCm39)		probably null	Het
Ehmt1	A	T	2: 24,774,347 (GRCm39)		probably null	Het
Emc1	T	A	4: 139,090,496 (GRCm39)	L412*	probably null	Het
Ep400	T	C	5: 110,904,389 (GRCm39)	N70S	possibly damaging	Het
Ercc6l2	T	C	13: 64,018,549 (GRCm39)		probably benign	Het
Fry	T	C	5: 150,336,814 (GRCm39)	V1395A	probably benign	Het
Gps1	A	G	11: 120,677,259 (GRCm39)	N186S	possibly damaging	Het
Hdgf	T	A	3: 87,821,535 (GRCm39)	D128E	probably benign	Het
Hipk3	A	G	2: 104,301,107 (GRCm39)	S362P	probably damaging	Het
Hypk	C	A	2: 121,288,683 (GRCm39)	H116Q	possibly damaging	Het
Ifna9	T	A	4: 88,510,508 (GRCm39)	T39S	possibly damaging	Het
Itgae	A	C	11: 73,006,969 (GRCm39)	D405A	probably damaging	Het
Itprid1	T	C	6: 55,945,045 (GRCm39)	S589P	probably benign	Het
Kdm5a	T	C	6: 120,358,625 (GRCm39)	S223P	probably benign	Het
Kif21a	C	T	15: 90,821,497 (GRCm39)	S1432N	possibly damaging	Het
Klhl1	A	T	14: 96,584,316 (GRCm39)	C305S	possibly damaging	Het
Lrrn2	A	G	1: 132,866,230 (GRCm39)	S432G	probably benign	Het
Mlana	T	A	19: 29,682,098 (GRCm39)	S50R	probably damaging	Het
Mycbp2	A	T	14: 103,364,149 (GRCm39)	H4383Q	probably damaging	Het
Ncor1	A	G	11: 62,216,442 (GRCm39)	S1469P	probably damaging	Het
Nol6	G	T	4: 41,121,531 (GRCm39)	F270L	probably benign	Het
Nr2c2	T	A	6: 92,137,382 (GRCm39)	M431K	probably damaging	Het
Nrap	T	C	19: 56,368,688 (GRCm39)	I243V	probably damaging	Het
Obscn	T	C	11: 58,951,754 (GRCm39)	I4297V	possibly damaging	Het
Onecut2	A	G	18: 64,474,591 (GRCm39)	K381E	probably damaging	Het
Or52n1	T	A	7: 104,383,396 (GRCm39)	E58D	probably benign	Het
Or8k23	T	C	2: 86,186,205 (GRCm39)	I174V	probably benign	Het
Palb2	A	T	7: 121,716,583 (GRCm39)		probably null	Het
Plod1	T	C	4: 148,000,280 (GRCm39)	K260E	possibly damaging	Het
Rgsl1	T	C	1: 153,679,876 (GRCm39)		probably null	Het
Rpe65	T	A	3: 159,310,037 (GRCm39)	F103L	probably benign	Het
Ryr3	C	T	2: 112,672,218 (GRCm39)	A1438T	possibly damaging	Het
Slc17a3	G	A	13: 24,042,037 (GRCm39)	V402M	possibly damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Snph	C	T	2: 151,435,431 (GRCm39)	C430Y	probably damaging	Het
Tarbp1	T	C	8: 127,167,510 (GRCm39)	I1101V	probably benign	Het
Tatdn1	G	A	15: 58,793,020 (GRCm39)	L120F	possibly damaging	Het
Trav3-3	A	G	14: 53,903,828 (GRCm39)	K49E	probably benign	Het
Trpv5	T	C	6: 41,630,183 (GRCm39)	T636A	probably benign	Het
Usp33	T	A	3: 152,080,428 (GRCm39)		probably null	Het
Usp53	A	T	3: 122,727,954 (GRCm39)	F876Y	probably benign	Het
Utrn	A	T	10: 12,615,223 (GRCm39)	I316K	probably benign	Het
Zfp106	G	T	2: 120,365,337 (GRCm39)	Q357K	probably damaging	Het
Zfp143	T	C	7: 109,673,398 (GRCm39)	V138A	probably damaging	Het
Zfp451	T	C	1: 33,818,126 (GRCm39)	R118G	probably null	Het

Other mutations in Ube2l6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Ube2l6	APN	2	84,639,382 (GRCm39)	missense	possibly damaging	0.79
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
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

Predicted Primers

PCR Primer
(F):5'- CCTCACCCGTCAAGAATGAG -3'
(R):5'- TTAGGCACAGGGTGAGCTTC -3'

Sequencing Primer
(F):5'- AGCCATCCTAAGTGATGGTATGCTC -3'
(R):5'- ACAGGGTGAGCTTCCCAAG -3'

Posted On

2015-04-17