Incidental Mutation 'R2850:Ube2j1'
ID 252063
Institutional Source Beutler Lab
Gene Symbol Ube2j1
Ensembl Gene ENSMUSG00000028277
Gene Name ubiquitin-conjugating enzyme E2J 1
Synonyms 0710008M05Rik, Ncube, 1110030I22Rik, Ubc6p
MMRRC Submission 040443-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2850 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 33031416-33052363 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33049696 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Ago1 T C 4: 126,336,868 (GRCm39) probably benign Het
Ahi1 C T 10: 20,876,492 (GRCm39) T801I probably benign Het
Alms1 T C 6: 85,598,281 (GRCm39) S1505P probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Anxa6 T A 11: 54,901,852 (GRCm39) Y95F possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Clk1 A G 1: 58,451,438 (GRCm39) L457S probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Cntnap5c T A 17: 58,717,343 (GRCm39) probably benign Het
Corin A G 5: 72,462,298 (GRCm39) V837A probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Cubn G A 2: 13,327,764 (GRCm39) T2687I probably damaging Het
Cypt3 T A X: 152,342,274 (GRCm39) N168K probably damaging Het
E330020D12Rik A G 1: 153,282,336 (GRCm39) noncoding transcript Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Fbxo22 T C 9: 55,130,699 (GRCm39) F323L probably damaging Het
Fnip1 A T 11: 54,393,503 (GRCm39) E646D probably benign Het
Gid4 G A 11: 60,329,400 (GRCm39) probably null Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Gpank1 A G 17: 35,343,557 (GRCm39) S346G probably benign Het
Gtf3c6 T C 10: 40,130,254 (GRCm39) probably benign Het
Hdx T C X: 110,502,720 (GRCm39) I562V probably benign Het
Ifrd2 T C 9: 107,468,908 (GRCm39) probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Kif11 C A 19: 37,397,941 (GRCm39) D630E probably benign Het
Lpl G T 8: 69,352,164 (GRCm39) E372* probably null Het
Mrps26 T C 2: 130,406,967 (GRCm39) V198A probably benign Het
Mucl1 T C 15: 103,782,348 (GRCm39) N201S possibly damaging Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nfat5 A G 8: 108,020,492 (GRCm39) D12G probably damaging Het
Or5b102 T C 19: 13,040,934 (GRCm39) L53P probably damaging Het
Pik3r3 A G 4: 116,127,981 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,350,622 (GRCm39) V489E possibly damaging Het
Pkhd1 T C 1: 20,579,300 (GRCm39) E1802G possibly damaging Het
Plb1 T A 5: 32,450,568 (GRCm39) S370T probably benign Het
Ppat G A 5: 77,067,222 (GRCm39) T337I probably benign Het
Prkd3 A G 17: 79,262,025 (GRCm39) V763A possibly damaging Het
Prr9 A T 3: 92,030,476 (GRCm39) S55T probably benign Het
Rbpms G T 8: 34,324,405 (GRCm39) N108K possibly damaging Het
Rc3h2 A T 2: 37,267,427 (GRCm39) D972E probably benign Het
Rrbp1 C T 2: 143,791,269 (GRCm39) R1378Q probably benign Het
Slc26a7 T A 4: 14,593,806 (GRCm39) probably benign Het
Stard6 T A 18: 70,616,522 (GRCm39) H60Q probably benign Het
Sult6b2 T C 6: 142,743,613 (GRCm39) T138A probably benign Het
Th G A 7: 142,447,812 (GRCm39) Q329* probably null Het
Tmco3 A G 8: 13,345,024 (GRCm39) H268R probably benign Het
Tnn T C 1: 159,966,857 (GRCm39) D429G probably benign Het
Tnrc6a G A 7: 122,779,023 (GRCm39) G1245R probably damaging Het
Trem3 C A 17: 48,556,669 (GRCm39) L47M probably benign Het
Trpm6 T A 19: 18,769,454 (GRCm39) C307S possibly damaging Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Wdr81 A T 11: 75,341,998 (GRCm39) S1090T probably damaging Het
Ythdf3 T C 3: 16,257,982 (GRCm39) probably benign Het
Zfp280d A G 9: 72,219,371 (GRCm39) T183A probably benign Het
Zfp354c G A 11: 50,706,158 (GRCm39) Q306* probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R probably benign Het
Other mutations in Ube2j1
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02707:Ube2j1 APN 4 33,038,206 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- CTGGCTTATTCATCAGGATTGC -3'
(R):5'- TCGTCGGAATATAAGAGCCGC -3'

Sequencing Primer
(F):5'- CTTCCTAGTCTCCGAATTCAGATGG -3'
(R):5'- CCGCCAATGCTAAAGTCAGGATG -3'
Posted On 2014-12-04