Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02474:Ube2t'

294858

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: 0.860) question?

Stock #

IGL02474

Quality Score

Status

Chromosome

Chromosomal Location

134890303-134901900 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 134899079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 21 (K21*)

Gene Model

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

AlphaFold

Q9CQ37

Predicted Effect

probably null
Transcript: ENSMUST00000027687
AA Change: K91*

SMART Domains

Protein: ENSMUSP00000027687
Gene: ENSMUSG00000026429
AA Change: K91*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139617

Predicted Effect

probably null
Transcript: ENSMUST00000188177
AA Change: K21*

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,038,491 (GRCm39)	E283G	probably damaging	Het
Ahnak	A	G	19: 8,982,297 (GRCm39)	I1194V	probably benign	Het
Aqr	T	A	2: 113,943,127 (GRCm39)	N1149Y	probably damaging	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Cacna1s	A	C	1: 136,046,118 (GRCm39)	T1461P	probably benign	Het
Chrnb3	T	C	8: 27,883,397 (GRCm39)	S113P	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Cramp1	A	G	17: 25,204,024 (GRCm39)	V318A	probably damaging	Het
Csf2ra	A	G	19: 61,214,975 (GRCm39)	V163A	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ctnnd2	A	G	15: 30,669,708 (GRCm39)	D439G	possibly damaging	Het
Dnah11	T	A	12: 117,991,180 (GRCm39)		probably null	Het
Dyrk4	C	A	6: 126,857,194 (GRCm39)	C495F	probably damaging	Het
Gabra6	A	G	11: 42,198,244 (GRCm39)	V402A	probably benign	Het
Gba2	T	C	4: 43,568,538 (GRCm39)	M643V	possibly damaging	Het
Gbp9	A	T	5: 105,242,433 (GRCm39)		probably benign	Het
Ginm1	A	G	10: 7,653,532 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,394,217 (GRCm39)	D282E	probably damaging	Het
Gm5799	T	C	14: 43,782,086 (GRCm39)	I86T	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gng12	A	G	6: 66,992,745 (GRCm39)	K4R	probably benign	Het
Hnrnpul1	A	T	7: 25,426,182 (GRCm39)	D556E	probably benign	Het
Kat6b	T	A	14: 21,719,107 (GRCm39)	L1153Q	possibly damaging	Het
Ly75	A	T	2: 60,213,526 (GRCm39)	L17Q	probably null	Het
Mc5r	T	C	18: 68,471,910 (GRCm39)	F90L	probably damaging	Het
Or1x2	C	A	11: 50,918,192 (GRCm39)	A121D	probably damaging	Het
Or5k8	A	T	16: 58,645,019 (GRCm39)	S18T	probably benign	Het
Or6b13	T	C	7: 139,782,500 (GRCm39)	Y61C	probably damaging	Het
Or7c70	A	T	10: 78,682,897 (GRCm39)	M284K	probably damaging	Het
Or8b9	A	T	9: 37,766,656 (GRCm39)	I181L	probably benign	Het
Pi4ka	A	T	16: 17,143,293 (GRCm39)	Y6N	probably damaging	Het
Polr2g	C	A	19: 8,775,820 (GRCm39)		probably null	Het
Psme3	A	G	11: 101,208,480 (GRCm39)	Q82R	probably benign	Het
Rab11a	G	T	9: 64,633,929 (GRCm39)	T17K	possibly damaging	Het
Rbm12	A	T	2: 155,940,017 (GRCm39)	L85Q	probably damaging	Het
Skap1	A	T	11: 96,599,512 (GRCm39)	Y188F	probably damaging	Het
Tmprss6	A	T	15: 78,326,536 (GRCm39)	F34I	probably damaging	Het
Trip12	A	C	1: 84,771,854 (GRCm39)	I98S	probably benign	Het
Ttn	T	C	2: 76,708,532 (GRCm39)		probably benign	Het
Vmn1r216	T	C	13: 23,283,647 (GRCm39)	V110A	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,150 (GRCm39)	F736I	probably benign	Het
Vps13c	A	G	9: 67,845,158 (GRCm39)	T2081A	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het

Other mutations in Ube2t

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02822:Ube2t	APN	1	134,901,688 (GRCm39)	utr 3 prime	probably benign
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

2015-04-16