Mutagenetix > Incidental Mutation

Incidental Mutation 'R0378:Ube2ql1'

36486

Institutional Source

Beutler Lab

Gene Symbol

Ube2ql1

Ensembl Gene

ENSMUSG00000052981

Gene Name

ubiquitin-conjugating enzyme E2Q family-like 1

Synonyms

3110006E14Rik

MMRRC Submission

038584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R0378 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

69850951-69888008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69887017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 148 (Q148L)

Ref Sequence

ENSEMBL: ENSMUSP00000070906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065118]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065118
AA Change: Q148L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070906
Gene: ENSMUSG00000052981
AA Change: Q148L

Domain	Start	End	E-Value	Type
low complexity region	23	33	N/A	INTRINSIC
low complexity region	41	78	N/A	INTRINSIC
low complexity region	89	131	N/A	INTRINSIC
UBCc	141	293	6.83e-12	SMART

Meta Mutation Damage Score

0.1374

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,469,749 (GRCm39)	R651L	probably damaging	Het
Amd1	T	C	10: 40,165,380 (GRCm39)	D317G	possibly damaging	Het
Artn	A	G	4: 117,784,815 (GRCm39)		probably benign	Het
Bub1b	T	A	2: 118,471,604 (GRCm39)	V988E	probably benign	Het
Cyp2c65	G	T	19: 39,061,662 (GRCm39)	C216F	probably benign	Het
Cyp3a11	T	C	5: 145,805,417 (GRCm39)	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,923,652 (GRCm39)	K330N	probably damaging	Het
Duox2	C	A	2: 122,115,064 (GRCm39)	V1138L	probably benign	Het
Erc2	A	G	14: 27,733,651 (GRCm39)	D567G	probably damaging	Het
Eri2	A	G	7: 119,393,139 (GRCm39)		probably null	Het
Foxa3	A	G	7: 18,757,294 (GRCm39)	Y17H	probably damaging	Het
Fto	T	C	8: 92,200,940 (GRCm39)	S324P	probably damaging	Het
Get3	A	T	8: 85,751,893 (GRCm39)	M1K	probably null	Het
Gls2	T	G	10: 128,043,180 (GRCm39)	L457R	probably benign	Het
Gstcd	A	T	3: 132,692,169 (GRCm39)	L582H	probably damaging	Het
Gtf3c1	G	A	7: 125,246,786 (GRCm39)	R1508*	probably null	Het
Kif21a	T	C	15: 90,853,977 (GRCm39)		probably null	Het
Klra5	A	T	6: 129,883,577 (GRCm39)	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,290,404 (GRCm39)	D456G	probably damaging	Het
Mau2	A	G	8: 70,483,305 (GRCm39)	S186P	probably damaging	Het
Msr1	T	C	8: 40,042,423 (GRCm39)	D384G	possibly damaging	Het
Ncf4	T	C	15: 78,137,503 (GRCm39)	V93A	probably damaging	Het
Oas1f	T	G	5: 120,994,489 (GRCm39)	C337G	probably damaging	Het
Or10al3	A	G	17: 38,011,932 (GRCm39)	M124V	probably damaging	Het
Or5p58	A	T	7: 107,694,429 (GRCm39)	F116Y	probably benign	Het
Or6c33	T	A	10: 129,853,872 (GRCm39)	L214H	probably damaging	Het
Pwwp3a	C	A	10: 80,074,713 (GRCm39)		probably null	Het
Rasl10b	T	C	11: 83,309,519 (GRCm39)	S159P	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Smg8	C	A	11: 86,971,249 (GRCm39)	D841Y	probably damaging	Het
Sox7	T	C	14: 64,181,398 (GRCm39)	V65A	probably damaging	Het
Sp140	C	T	1: 85,547,772 (GRCm39)		probably benign	Het
Srsf10	A	G	4: 135,590,501 (GRCm39)	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcerg1l	A	G	7: 137,878,384 (GRCm39)	V326A	probably benign	Het
Tcl1b5	T	A	12: 105,145,326 (GRCm39)	W97R	probably damaging	Het
Tmem108	T	C	9: 103,376,856 (GRCm39)	R198G	possibly damaging	Het
Vmn1r5	A	T	6: 56,962,570 (GRCm39)	I82L	probably benign	Het
Wdr6	A	T	9: 108,453,063 (GRCm39)	S273R	probably damaging	Het
Ylpm1	C	T	12: 85,043,850 (GRCm39)		probably benign	Het
Zfp90	G	A	8: 107,152,138 (GRCm39)	R617Q	possibly damaging	Het

Other mutations in Ube2ql1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0153:Ube2ql1	UTSW	13	69,886,711 (GRCm39)	missense	possibly damaging	0.95
R0546:Ube2ql1	UTSW	13	69,887,419 (GRCm39)	missense	unknown
R2141:Ube2ql1	UTSW	13	69,886,783 (GRCm39)	missense	probably damaging	1.00
R3795:Ube2ql1	UTSW	13	69,852,231 (GRCm39)	missense	possibly damaging	0.58
R4588:Ube2ql1	UTSW	13	69,887,276 (GRCm39)	missense	unknown
R4908:Ube2ql1	UTSW	13	69,852,289 (GRCm39)	missense	probably damaging	1.00
R5672:Ube2ql1	UTSW	13	69,887,446 (GRCm39)	missense	unknown
R5941:Ube2ql1	UTSW	13	69,887,459 (GRCm39)	start codon destroyed	probably null
R7028:Ube2ql1	UTSW	13	69,886,873 (GRCm39)	missense	probably damaging	1.00
R7618:Ube2ql1	UTSW	13	69,887,066 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCAGGATGAACTCTGTGTTGGTCTC -3'
(R):5'- TCCGTAAAATCGGGCTCATTCGC -3'

Sequencing Primer
(F):5'- CCTTCATGTCCTGCCACAG -3'
(R):5'- gccacaagcagcagcag -3'

Posted On

2013-05-09