Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Ube2j1'

221604

Institutional Source

Beutler Lab

Gene Symbol

Ube2j1

Ensembl Gene

ENSMUSG00000028277

Gene Name

ubiquitin-conjugating enzyme E2J 1

Synonyms

1110030I22Rik, Ubc6p, Ncube, 0710008M05Rik

MMRRC Submission

040051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33031416-33052363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33049696 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 231 (N231K)

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

noncoding transcript
Transcript: ENSMUST00000121630

Predicted Effect

probably benign
Transcript: ENSMUST00000124992
AA Change: N231K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118333
Gene: ENSMUSG00000028277
AA Change: N231K

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: N174K

SMART Domains

Protein: ENSMUSP00000115757
Gene: ENSMUSG00000028277
AA Change: N174K

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

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,094		probably benign	Het
Abhd15	A	G	11: 77,518,338	T293A	probably benign	Het
Aldh1l1	C	T	6: 90,562,665	P192L	probably benign	Het
Aldoart1	T	G	4: 72,852,542	I10L	probably benign	Het
Ankhd1	G	A	18: 36,645,113	G1653D	probably benign	Het
Ankk1	A	C	9: 49,419,364		probably null	Het
Astn1	A	G	1: 158,600,502	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,939,915	R52L	possibly damaging	Het
Ccdc151	T	G	9: 21,991,858	T419P	possibly damaging	Het
Ccdc33	G	A	9: 58,031,112	P859S	possibly damaging	Het
Ccny	A	G	18: 9,449,644	S10P	probably damaging	Het
Cdc6	C	A	11: 98,910,461	F179L	probably benign	Het
Cdc7	T	A	5: 106,983,132	V491E	probably benign	Het
Cdh23	G	T	10: 60,596,730	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,037,755	H299R	probably benign	Het
Ciart	A	T	3: 95,878,701	M354K	probably benign	Het
Clasrp	G	T	7: 19,586,715		probably benign	Het
Col4a3	G	A	1: 82,696,319	G1132E	unknown	Het
Crebbp	G	A	16: 4,084,823	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,550,405	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492	R27M	probably null	Het
Ddhd2	A	G	8: 25,752,165	F116L	probably damaging	Het
Dgkd	G	A	1: 87,927,691	R685K	probably benign	Het
Dnah2	A	G	11: 69,524,240	S223P	probably benign	Het
Exph5	A	T	9: 53,372,679	R353S	possibly damaging	Het
F11	C	A	8: 45,252,118	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,459,397	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,587,207	I50T	probably damaging	Het
Fam20c	T	C	5: 138,756,227		probably null	Het
Fam234b	A	G	6: 135,226,914	T405A	probably benign	Het
Fbxo18	C	A	2: 11,762,970	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,762,313	Q132*	probably null	Het
Foxo6	T	C	4: 120,286,969	D95G	probably benign	Het
Ggt5	T	C	10: 75,604,087	F174S	probably damaging	Het
Gm7104	G	A	12: 88,285,781		noncoding transcript	Het
Gpr155	A	G	2: 73,373,633	L279P	probably damaging	Het
H2-T23	A	G	17: 36,032,191	L98P	probably damaging	Het
Heatr5a	A	G	12: 51,955,403	V250A	probably benign	Het
Heyl	A	T	4: 123,241,363	I50F	probably damaging	Het
Hist4h4	G	C	6: 136,804,103	R93G	possibly damaging	Het
Ifitm10	A	T	7: 142,356,034	S179R	probably damaging	Het
Isg15	A	T	4: 156,199,792	I93N	probably benign	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itga10	G	A	3: 96,657,690	V985I	probably benign	Het
Kcnt2	T	C	1: 140,375,154	I144T	probably benign	Het
Klk1	A	C	7: 44,229,034	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,933,442	R654L	probably damaging	Het
Lmod1	A	T	1: 135,364,387	M327L	probably benign	Het
Lonrf2	T	C	1: 38,807,050	E347G	probably benign	Het
Ltbp1	A	G	17: 75,276,432	Y409C	probably damaging	Het
Mecom	A	T	3: 29,980,592	Y312N	probably damaging	Het
Mrgprb3	C	T	7: 48,643,734	C23Y	possibly damaging	Het
Mut	A	G	17: 40,941,451	T295A	probably benign	Het
Nadk	C	A	4: 155,585,441	L194I	probably damaging	Het
Naxd	A	G	8: 11,509,510	I182V	probably benign	Het
Nbeal1	T	A	1: 60,319,687	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,529,521	R81L	possibly damaging	Het
Olfr1297	T	A	2: 111,621,814	R87W	probably benign	Het
Olfr1411	G	T	1: 92,596,969	R150L	probably benign	Het
Olfr957	A	T	9: 39,511,378	M114K	probably damaging	Het
Pcdh18	A	G	3: 49,754,940	V642A	probably benign	Het
Pdzk1	G	A	3: 96,855,848		probably benign	Het
Per3	C	T	4: 151,033,938	V233I	probably benign	Het
Pisd	G	A	5: 32,764,796	P267S	possibly damaging	Het
Prm1	T	A	16: 10,796,493		probably benign	Het
Ptprj	A	G	2: 90,463,095	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,673,367		probably benign	Het
Raver2	T	A	4: 101,102,812	V163D	probably damaging	Het
Rbm14	A	T	19: 4,803,877	I159N	possibly damaging	Het
Rfx6	G	A	10: 51,718,126	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,272,863		probably benign	Het
Rpl28-ps4	T	A	6: 117,213,895		noncoding transcript	Het
Rsph10b	A	G	5: 143,967,250		probably null	Het
Rspo4	A	G	2: 151,873,093	K217E	unknown	Het
Scgb2b27	G	A	7: 34,013,285	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,111,435		probably benign	Het
Sec31b	T	C	19: 44,536,156	N101D	probably benign	Het
Sema6a	A	T	18: 47,306,429	C9*	probably null	Het
Sept5	A	C	16: 18,623,012	L331R	probably benign	Het
Slc16a11	C	A	11: 70,215,651	Y238*	probably null	Het
Slc25a12	T	C	2: 71,312,548	T210A	probably benign	Het
Slc35f1	A	T	10: 53,089,347	Y286F	probably damaging	Het
Szt2	A	T	4: 118,376,448	L2225*	probably null	Het
Thap12	T	C	7: 98,716,620	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,367,724	W237R	probably damaging	Het
Tyk2	T	C	9: 21,120,341	D451G	probably damaging	Het
Vmn1r225	A	T	17: 20,502,590	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 13,131,821	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,537,841	V821A	probably damaging	Het
Zfp689	C	A	7: 127,444,826	G211C	probably damaging	Het
Zfp827	A	G	8: 79,076,236	D479G	probably benign	Het
Zfp995	A	C	17: 21,880,594	F220V	probably damaging	Het

Other mutations in Ube2j1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01539:Ube2j1	APN	4	33043993	splice site	probably benign
IGL01800:Ube2j1	APN	4	33045115	missense	probably benign	0.00
IGL02707:Ube2j1	APN	4	33038206	missense	possibly damaging	0.95
IGL03368:Ube2j1	APN	4	33038317	missense	probably damaging	1.00
R0314:Ube2j1	UTSW	4	33043991	splice site	probably benign
R1575:Ube2j1	UTSW	4	33045116	missense	probably benign	0.23
R1714:Ube2j1	UTSW	4	33049886	missense	probably damaging	1.00
R2267:Ube2j1	UTSW	4	33049943	missense	possibly damaging	0.51
R2850:Ube2j1	UTSW	4	33049696	missense	probably benign	0.16
R3737:Ube2j1	UTSW	4	33036723	missense	probably benign	0.06
R3738:Ube2j1	UTSW	4	33036723	missense	probably benign	0.06
R4354:Ube2j1	UTSW	4	33049682	missense	probably benign	0.05
R5527:Ube2j1	UTSW	4	33045164	missense	probably benign	0.00
R5554:Ube2j1	UTSW	4	33040745	missense	probably damaging	1.00
R6663:Ube2j1	UTSW	4	33045198	missense	probably damaging	0.99
R8122:Ube2j1	UTSW	4	33045145	missense	probably benign	0.00
R9158:Ube2j1	UTSW	4	33036711	missense	probably benign	0.05
R9168:Ube2j1	UTSW	4	33045111	missense	probably benign
R9255:Ube2j1	UTSW	4	33036759	missense	probably benign	0.09
R9503:Ube2j1	UTSW	4	33049781	nonsense	probably null
R9542:Ube2j1	UTSW	4	33040793	nonsense	probably null
X0024:Ube2j1	UTSW	4	33049928	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTCACAGAGCTCAGGATAAG -3'
(R):5'- GTCAGGATGATGATCAGCATGG -3'

Sequencing Primer
(F):5'- GCTCAGGATAAGCTGGGTTTC -3'
(R):5'- TGATGATCAGCATGGCGGACC -3'

Posted On

2014-08-25