Mutagenetix > Incidental Mutation

Incidental Mutation 'R5672:Ube2ql1'

442690

Institutional Source

Beutler Lab

Gene Symbol

Ube2ql1

Ensembl Gene

ENSMUSG00000052981

Gene Name

ubiquitin-conjugating enzyme E2Q family-like 1

Synonyms

3110006E14Rik

MMRRC Submission

043174-MU

Accession Numbers

Essential gene?

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

Stock #

R5672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69850951-69888008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69887446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 5 (L5H)

Ref Sequence

ENSEMBL: ENSMUSP00000070906 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000065118
AA Change: L5H

SMART Domains

Protein: ENSMUSP00000070906
Gene: ENSMUSG00000052981
AA Change: L5H

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,383 (GRCm39)	N181S	possibly damaging	Het
Abcf3	A	T	16: 20,368,002 (GRCm39)	Q74L	probably benign	Het
Ankrd13c	T	C	3: 157,666,664 (GRCm39)		probably null	Het
Bub1	A	G	2: 127,646,800 (GRCm39)	F827L	possibly damaging	Het
Cfap68	T	C	9: 50,675,227 (GRCm39)	T67A	probably benign	Het
Cyp2c55	A	G	19: 39,023,990 (GRCm39)	I355V	probably benign	Het
Dido1	A	G	2: 180,313,696 (GRCm39)	S319P	probably damaging	Het
Efna5	A	T	17: 63,188,025 (GRCm39)	V34D	probably damaging	Het
Fam131a	G	T	16: 20,518,389 (GRCm39)	E88D	probably damaging	Het
Fsip2	A	T	2: 82,817,838 (GRCm39)	R4524*	probably null	Het
Gm6899	C	T	11: 26,543,484 (GRCm39)		probably benign	Het
Iqcg	C	T	16: 32,839,878 (GRCm39)	R356Q	probably damaging	Het
Itgae	T	A	11: 73,036,377 (GRCm39)	I1105N	possibly damaging	Het
Klb	T	C	5: 65,537,292 (GRCm39)	I874T	possibly damaging	Het
Klc3	T	C	7: 19,130,256 (GRCm39)	Y307C	probably damaging	Het
Lrp1b	T	A	2: 41,231,771 (GRCm39)	H378L	probably benign	Het
Mxd4	G	A	5: 34,335,044 (GRCm39)	R114C	probably damaging	Het
Nrdc	A	T	4: 108,895,242 (GRCm39)	R241*	probably null	Het
Ofcc1	G	A	13: 40,433,905 (GRCm39)	H67Y	probably damaging	Het
Or10ak9	A	G	4: 118,726,379 (GRCm39)	T134A	possibly damaging	Het
Or5p5	A	G	7: 107,413,844 (GRCm39)	T18A	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Pard3b	G	T	1: 62,049,625 (GRCm39)	A128S	probably benign	Het
Plat	T	C	8: 23,263,664 (GRCm39)	Y188H	probably benign	Het
Pop1	A	G	15: 34,530,325 (GRCm39)	K908E	possibly damaging	Het
Pten	A	G	19: 32,735,866 (GRCm39)	I8V	probably benign	Het
Pwwp2a	C	T	11: 43,596,968 (GRCm39)	A436V	probably damaging	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sdk1	T	C	5: 142,173,900 (GRCm39)	C2023R	possibly damaging	Het
Serpina1d	A	C	12: 103,730,101 (GRCm39)	D360E	possibly damaging	Het
Serpinb9b	A	G	13: 33,223,582 (GRCm39)	D258G	probably benign	Het
Smgc	G	A	15: 91,726,108 (GRCm39)	S18N	possibly damaging	Het
Snx27	A	T	3: 94,410,157 (GRCm39)		probably null	Het
Spem1	T	G	11: 69,712,263 (GRCm39)	K134Q	probably damaging	Het
Srgap3	T	A	6: 112,752,522 (GRCm39)	M321L	probably benign	Het
Tanc1	T	C	2: 59,602,697 (GRCm39)	C163R	possibly damaging	Het
Ubn2	T	C	6: 38,438,462 (GRCm39)	I225T	probably damaging	Het
Vmn1r181	A	C	7: 23,683,741 (GRCm39)	T69P	probably damaging	Het
Vmn2r110	A	G	17: 20,816,494 (GRCm39)	F10L	probably benign	Het
Yeats2	T	C	16: 19,980,779 (GRCm39)	M236T	probably 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
R0378:Ube2ql1	UTSW	13	69,887,017 (GRCm39)	missense	possibly damaging	0.94
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
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'- TCCTGGAGCTCCTTCATGAG -3'
(R):5'- GTCATATGACAGCGGCGACAAG -3'

Sequencing Primer
(F):5'- CACCTGTGTGCAGTGCTG -3'
(R):5'- CCACTAAGCGGTCGTCT -3'

Posted On

2016-11-09