Mutagenetix > Incidental Mutation

Incidental Mutation 'R3795:Ube2ql1'

272740

Institutional Source

Beutler Lab

Gene Symbol

Ube2ql1

Ensembl Gene

ENSMUSG00000052981

Gene Name

ubiquitin-conjugating enzyme E2Q family-like 1

Synonyms

3110006E14Rik

Accession Numbers

Essential gene?

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

Stock #

R3795 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69850951-69888008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 69852231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 282 (A282E)

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: A282E

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070906
Gene: ENSMUSG00000052981
AA Change: A282E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220876

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,212 (GRCm39)	T10A	probably benign	Het
Adh1	T	A	3: 137,985,526 (GRCm39)	L18H	possibly damaging	Het
Bltp1	A	G	3: 37,084,714 (GRCm39)	T426A	probably benign	Het
Capn13	C	A	17: 73,644,387 (GRCm39)	V381L	probably benign	Het
Cfap54	T	C	10: 92,778,735 (GRCm39)		probably benign	Het
Cmas	T	A	6: 142,713,594 (GRCm39)	D206E	probably benign	Het
Cntnap1	A	G	11: 101,077,590 (GRCm39)	E1084G	probably damaging	Het
Cpz	A	G	5: 35,669,093 (GRCm39)	V346A	probably benign	Het
Dhrs3	A	G	4: 144,645,962 (GRCm39)	D116G	probably damaging	Het
Efcab3	A	G	11: 104,624,501 (GRCm39)	E844G	possibly damaging	Het
Inpp4b	T	C	8: 82,759,845 (GRCm39)	V445A	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Lhx2	T	C	2: 38,243,359 (GRCm39)	C12R	probably damaging	Het
Map3k2	T	C	18: 32,359,701 (GRCm39)	M518T	probably benign	Het
Mrc1	T	A	2: 14,293,793 (GRCm39)		probably benign	Het
Nlrp4e	T	A	7: 23,020,228 (GRCm39)	D238E	probably benign	Het
Obscn	A	G	11: 58,922,667 (GRCm39)	Y6543H	probably damaging	Het
Pigv	A	G	4: 133,392,502 (GRCm39)	S223P	possibly damaging	Het
Pkdcc	A	G	17: 83,531,382 (GRCm39)	T464A	probably damaging	Het
Polr2k	A	G	15: 36,175,193 (GRCm39)	I18V	probably damaging	Het
Psg20	A	G	7: 18,418,374 (GRCm39)	V131A	probably benign	Het
Ptpro	T	C	6: 137,357,307 (GRCm39)	F266S	probably benign	Het
S100a7l2	T	C	3: 90,995,730 (GRCm39)	I57M	possibly damaging	Het
Sdk2	G	A	11: 113,747,522 (GRCm39)	R663*	probably null	Het
Szt2	G	T	4: 118,248,927 (GRCm39)	L586I	probably damaging	Het
Tln2	T	C	9: 67,163,197 (GRCm39)	I1113V	probably damaging	Het
Vmn2r50	T	A	7: 9,771,851 (GRCm39)	M617L	probably benign	Het
Wdfy3	A	G	5: 102,085,466 (GRCm39)	V676A	probably damaging	Het
Wdr47	T	C	3: 108,532,053 (GRCm39)		probably null	Het
Zbp1	T	C	2: 173,053,972 (GRCm39)	H183R	probably benign	Het
Zfp352	C	T	4: 90,113,386 (GRCm39)	H509Y	probably damaging	Het
Zfp988	G	A	4: 147,416,040 (GRCm39)	R158Q	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
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
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'- AAGTGTGTCCTTTGCATTCAGAAC -3'
(R):5'- ACCCTTGCTTGTGGTCAAC -3'

Sequencing Primer
(F):5'- ACACAGTTCTGGCTGGAGTAG -3'
(R):5'- CTTATGGGCCTTTGGCAAA -3'

Posted On

2015-03-25