Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02707:Ube2j1'

304401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube2j1

Ensembl Gene

ENSMUSG00000028277

Gene Name

ubiquitin-conjugating enzyme E2J 1

Synonyms

0710008M05Rik, Ncube, 1110030I22Rik, Ubc6p

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02707

Quality Score

Status

Chromosome

Chromosomal Location

33031416-33052363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33038206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 38 (L38P)

Ref Sequence

ENSEMBL: ENSMUSP00000118333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029944] [ENSMUST00000124992]

AlphaFold

Q9JJZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000029944

SMART Domains

Protein: ENSMUSP00000029944
Gene: ENSMUSG00000028277

Domain	Start	End	E-Value	Type
PDB:2F4W\|B	1	78	5e-17	PDB
Blast:UBCc	1	116	4e-72	BLAST
SCOP:d1c4zd_	2	50	1e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124992
AA Change: L38P

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118333
Gene: ENSMUSG00000028277
AA Change: L38P

Domain	Start	End	E-Value	Type
UBCc	13	160	4.49e-30	SMART
low complexity region	249	269	N/A	INTRINSIC
transmembrane domain	286	308	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000135924
AA Change: L21P

SMART Domains

Protein: ENSMUSP00000115757
Gene: ENSMUSG00000028277
AA Change: L21P

Domain	Start	End	E-Value	Type
UBCc	1	144	8.08e-23	SMART
low complexity region	193	213	N/A	INTRINSIC
transmembrane domain	230	252	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, decreased body size, and male infertility associated with defective spermiogenesis, teratozoospermia, and asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,928 (GRCm39)	T149A	probably benign	Het
4932414N04Rik	A	C	2: 68,561,474 (GRCm39)	Q267P	possibly damaging	Het
Actr5	T	C	2: 158,478,617 (GRCm39)	V489A	probably benign	Het
Adam26b	T	C	8: 43,972,895 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,290,567 (GRCm39)	N509S	probably benign	Het
Arhgap22	C	T	14: 33,085,229 (GRCm39)		probably benign	Het
Arhgap9	C	A	10: 127,165,476 (GRCm39)	H628Q	probably damaging	Het
Asap1	A	T	15: 64,001,123 (GRCm39)	I486N	probably damaging	Het
Asb15	A	T	6: 24,558,787 (GRCm39)		probably benign	Het
Avil	A	G	10: 126,842,431 (GRCm39)	D70G	probably damaging	Het
Cct6b	T	C	11: 82,645,780 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,464,180 (GRCm39)	I717K	probably damaging	Het
Chd4	G	T	6: 125,085,730 (GRCm39)	A875S	probably damaging	Het
Col4a4	A	T	1: 82,471,237 (GRCm39)	M706K	unknown	Het
Cr1l	T	C	1: 194,806,019 (GRCm39)	T155A	probably benign	Het
Ctnna3	A	G	10: 63,339,844 (GRCm39)	N10S	probably benign	Het
Cubn	A	G	2: 13,450,843 (GRCm39)	V854A	probably damaging	Het
Dgkh	T	C	14: 78,823,091 (GRCm39)	T845A	possibly damaging	Het
F10	G	A	8: 13,098,252 (GRCm39)	A152T	probably damaging	Het
Gabrg3	C	A	7: 56,632,439 (GRCm39)	E170*	probably null	Het
Heatr5a	A	G	12: 51,968,149 (GRCm39)	V829A	probably benign	Het
Htt	T	A	5: 34,987,225 (GRCm39)		probably null	Het
Icam4	T	C	9: 20,941,770 (GRCm39)	Y257H	possibly damaging	Het
Jph1	A	G	1: 17,074,675 (GRCm39)	S448P	probably benign	Het
Kansl1l	G	A	1: 66,812,604 (GRCm39)	L125F	probably damaging	Het
Kifc1	A	T	17: 34,100,467 (GRCm39)	C46*	probably null	Het
Lce3b	A	G	3: 92,841,193 (GRCm39)	D96G	unknown	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mctp2	A	G	7: 71,909,089 (GRCm39)	Y75H	possibly damaging	Het
Mesp2	A	G	7: 79,461,274 (GRCm39)	I200V	probably benign	Het
Msr1	T	C	8: 40,085,870 (GRCm39)		probably benign	Het
Mtfr2	C	T	10: 20,224,084 (GRCm39)	T6I	probably benign	Het
Myo5b	T	C	18: 74,828,438 (GRCm39)		probably benign	Het
Myoc	T	A	1: 162,467,029 (GRCm39)	I66N	probably benign	Het
Or10d1b	T	C	9: 39,613,937 (GRCm39)	I43V	probably damaging	Het
Or4a70	A	T	2: 89,324,171 (GRCm39)	Y162N	probably damaging	Het
Or51k1	A	C	7: 103,661,609 (GRCm39)	L100W	probably damaging	Het
Or52n20	T	C	7: 104,320,136 (GRCm39)	C76R	probably damaging	Het
Or52n2b	A	G	7: 104,565,859 (GRCm39)	C215R	probably damaging	Het
Or7a39	T	C	10: 78,715,759 (GRCm39)	L251S	probably damaging	Het
Per2	T	C	1: 91,378,450 (GRCm39)	D33G	possibly damaging	Het
Pknox1	A	G	17: 31,821,793 (GRCm39)	I295V	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rhot2	A	G	17: 26,063,270 (GRCm39)	S19P	probably damaging	Het
Rps6kb1	C	A	11: 86,426,236 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,275,648 (GRCm39)	T194I	probably benign	Het
Smarcad1	T	A	6: 65,029,790 (GRCm39)		probably benign	Het
Stxbp4	A	G	11: 90,428,759 (GRCm39)	S449P	probably benign	Het
Thrb	A	C	14: 18,026,721 (GRCm38)	I275L	probably benign	Het
Tjp1	T	A	7: 64,979,431 (GRCm39)	K365*	probably null	Het
Tjp1	T	A	7: 64,979,430 (GRCm39)	K365I	possibly damaging	Het
Tm4sf4	C	A	3: 57,333,939 (GRCm39)	C75*	probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Txndc16	T	C	14: 45,399,730 (GRCm39)	T408A	probably benign	Het
Urb2	T	C	8: 124,757,425 (GRCm39)	I1044T	probably benign	Het

Other mutations in Ube2j1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01539:Ube2j1	APN	4	33,043,993 (GRCm39)	splice site	probably benign
IGL01800:Ube2j1	APN	4	33,045,115 (GRCm39)	missense	probably benign	0.00
IGL03368:Ube2j1	APN	4	33,038,317 (GRCm39)	missense	probably damaging	1.00
R0314:Ube2j1	UTSW	4	33,043,991 (GRCm39)	splice site	probably benign
R1575:Ube2j1	UTSW	4	33,045,116 (GRCm39)	missense	probably benign	0.23
R1714:Ube2j1	UTSW	4	33,049,886 (GRCm39)	missense	probably damaging	1.00
R2044:Ube2j1	UTSW	4	33,049,696 (GRCm39)	missense	probably benign	0.16
R2267:Ube2j1	UTSW	4	33,049,943 (GRCm39)	missense	possibly damaging	0.51
R2850:Ube2j1	UTSW	4	33,049,696 (GRCm39)	missense	probably benign	0.16
R3737:Ube2j1	UTSW	4	33,036,723 (GRCm39)	missense	probably benign	0.06
R3738:Ube2j1	UTSW	4	33,036,723 (GRCm39)	missense	probably benign	0.06
R4354:Ube2j1	UTSW	4	33,049,682 (GRCm39)	missense	probably benign	0.05
R5527:Ube2j1	UTSW	4	33,045,164 (GRCm39)	missense	probably benign	0.00
R5554:Ube2j1	UTSW	4	33,040,745 (GRCm39)	missense	probably damaging	1.00
R6663:Ube2j1	UTSW	4	33,045,198 (GRCm39)	missense	probably damaging	0.99
R8122:Ube2j1	UTSW	4	33,045,145 (GRCm39)	missense	probably benign	0.00
R9158:Ube2j1	UTSW	4	33,036,711 (GRCm39)	missense	probably benign	0.05
R9168:Ube2j1	UTSW	4	33,045,111 (GRCm39)	missense	probably benign
R9255:Ube2j1	UTSW	4	33,036,759 (GRCm39)	missense	probably benign	0.09
R9503:Ube2j1	UTSW	4	33,049,781 (GRCm39)	nonsense	probably null
R9542:Ube2j1	UTSW	4	33,040,793 (GRCm39)	nonsense	probably null
X0024:Ube2j1	UTSW	4	33,049,928 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16