Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02822:Ube2t'

361071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2t

Ensembl Gene

ENSMUSG00000026429

Gene Name

ubiquitin-conjugating enzyme E2T

Synonyms

2700084L22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

IGL02822

Quality Score

Status

Chromosome

Chromosomal Location

134890303-134901900 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to T at 134901688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027687] [ENSMUST00000223886]

AlphaFold

Q9CQ37

Predicted Effect

probably benign
Transcript: ENSMUST00000027687

SMART Domains

Protein: ENSMUSP00000027687
Gene: ENSMUSG00000026429

Domain	Start	End	E-Value	Type
UBCc	5	152	1.75e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139617

Predicted Effect

probably benign
Transcript: ENSMUST00000188177

Predicted Effect

probably benign
Transcript: ENSMUST00000223886

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	C	16: 88,971,683 (GRCm39)	C2R	unknown	Het
Aldh1a7	A	G	19: 20,679,630 (GRCm39)	V382A	possibly damaging	Het
Asap2	T	C	12: 21,315,911 (GRCm39)	V943A	probably damaging	Het
Bod1l	C	T	5: 41,951,688 (GRCm39)	V2908M	possibly damaging	Het
Casd1	C	T	6: 4,630,017 (GRCm39)	T471I	probably damaging	Het
Cd200l1	T	C	16: 45,262,968 (GRCm39)	Y57C	probably damaging	Het
Col20a1	T	C	2: 180,638,600 (GRCm39)	Y405H	probably damaging	Het
Elp1	A	G	4: 56,774,520 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,237,248 (GRCm39)	I117T	probably damaging	Het
Fbxw5	A	G	2: 25,393,022 (GRCm39)	N164S	probably benign	Het
Fga	A	G	3: 82,938,789 (GRCm39)	E388G	probably damaging	Het
Fgfr1	A	G	8: 26,047,818 (GRCm39)	T55A	probably benign	Het
Gdpd4	T	C	7: 97,621,131 (GRCm39)	V148A	possibly damaging	Het
Gsap	T	A	5: 21,422,442 (GRCm39)	V137D	probably damaging	Het
Hsdl2	A	G	4: 59,601,379 (GRCm39)	H117R	possibly damaging	Het
Htr4	T	A	18: 62,561,255 (GRCm39)		probably benign	Het
Ifitm1	T	C	7: 140,548,191 (GRCm39)	V8A	possibly damaging	Het
Kdelr1	A	G	7: 45,523,288 (GRCm39)		probably benign	Het
Klra6	G	T	6: 129,993,673 (GRCm39)	Y199*	probably null	Het
Matcap1	T	C	8: 106,011,330 (GRCm39)	Y268C	probably damaging	Het
Mmp21	C	T	7: 133,277,828 (GRCm39)	D333N	possibly damaging	Het
Mocs1	T	C	17: 49,746,597 (GRCm39)	F189S	probably damaging	Het
Myo18b	C	T	5: 112,923,211 (GRCm39)	A1849T	probably damaging	Het
Naca	C	A	10: 127,875,214 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,926,868 (GRCm39)	H778Q	possibly damaging	Het
Nlrp4c	C	T	7: 6,068,726 (GRCm39)	P209L	probably damaging	Het
Or10q1b	A	G	19: 13,683,019 (GRCm39)	D276G	probably benign	Het
Or14j1	T	C	17: 38,146,534 (GRCm39)	Y215H	possibly damaging	Het
Or4a81	A	G	2: 89,619,444 (GRCm39)	L84P	possibly damaging	Het
Osbpl9	A	G	4: 108,930,118 (GRCm39)	S258P	probably damaging	Het
Pclaf	A	G	9: 65,808,875 (GRCm39)	E108G	possibly damaging	Het
Pira13	T	A	7: 3,819,917 (GRCm39)	T549S	possibly damaging	Het
Pla2r1	C	A	2: 60,285,517 (GRCm39)	C699F	probably damaging	Het
Pnkp	A	G	7: 44,511,848 (GRCm39)	Y120C	probably damaging	Het
Psme4	T	A	11: 30,798,204 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,587,606 (GRCm39)	S720P	probably damaging	Het
Rasa1	T	C	13: 85,400,633 (GRCm39)	H301R	probably damaging	Het
Spg11	C	A	2: 121,905,015 (GRCm39)	W1316L	probably damaging	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	probably benign	Het

Other mutations in Ube2t

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02474:Ube2t	APN	1	134,899,079 (GRCm39)	nonsense	probably null
R0321:Ube2t	UTSW	1	134,895,538 (GRCm39)	missense	possibly damaging	0.53
R1728:Ube2t	UTSW	1	134,899,905 (GRCm39)	missense	probably benign	0.00
R1729:Ube2t	UTSW	1	134,899,905 (GRCm39)	missense	probably benign	0.00
R1730:Ube2t	UTSW	1	134,899,905 (GRCm39)	missense	probably benign	0.00
R1739:Ube2t	UTSW	1	134,899,905 (GRCm39)	missense	probably benign	0.00
R1762:Ube2t	UTSW	1	134,899,905 (GRCm39)	missense	probably benign	0.00
R1783:Ube2t	UTSW	1	134,899,905 (GRCm39)	missense	probably benign	0.00
R1784:Ube2t	UTSW	1	134,899,905 (GRCm39)	missense	probably benign	0.00
R1785:Ube2t	UTSW	1	134,899,905 (GRCm39)	missense	probably benign	0.00
R2010:Ube2t	UTSW	1	134,897,036 (GRCm39)	missense	probably benign	0.00
R6151:Ube2t	UTSW	1	134,895,698 (GRCm39)	splice site	probably null
R6950:Ube2t	UTSW	1	134,899,095 (GRCm39)	critical splice donor site	probably null
R6989:Ube2t	UTSW	1	134,897,033 (GRCm39)	missense	probably damaging	0.97
R8972:Ube2t	UTSW	1	134,899,670 (GRCm39)	missense	probably damaging	1.00
R8995:Ube2t	UTSW	1	134,899,658 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-12-18