Incidental Mutation 'R9503:Ube2j1'
ID 717698
Institutional Source Beutler Lab
Gene Symbol Ube2j1
Ensembl Gene ENSMUSG00000028277
Gene Name ubiquitin-conjugating enzyme E2J 1
Synonyms 0710008M05Rik, Ncube, 1110030I22Rik, Ubc6p
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9503 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 33031416-33052363 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 33049781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 260 (Q260*)
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 probably null
Transcript: ENSMUST00000124992
AA Change: Q260*
SMART Domains Protein: ENSMUSP00000118333
Gene: ENSMUSG00000028277
AA Change: Q260*

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 probably null
Transcript: ENSMUST00000135924
AA Change: Q203*
SMART Domains Protein: ENSMUSP00000115757
Gene: ENSMUSG00000028277
AA Change: Q203*

DomainStartEndE-ValueType
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,987,458 (GRCm39) V2914E probably damaging Het
Bcan G A 3: 87,900,748 (GRCm39) P495L probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cc2d2b C T 19: 40,804,275 (GRCm39) T934M unknown Het
Ciao1 T C 2: 127,084,916 (GRCm39) D274G probably damaging Het
Cpne9 G T 6: 113,271,732 (GRCm39) R364L possibly damaging Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Fbn2 T C 18: 58,171,313 (GRCm39) Y2150C probably damaging Het
Hdac4 A T 1: 91,929,956 (GRCm39) F177I probably damaging Het
Lama2 A G 10: 26,865,440 (GRCm39) V2906A possibly damaging Het
Mpp2 T C 11: 101,955,468 (GRCm39) D94G probably benign Het
Nudt14 A G 12: 112,898,566 (GRCm39) L178P probably damaging Het
Or14a258 C T 7: 86,035,228 (GRCm39) M213I probably benign Het
Pcnt A G 10: 76,263,882 (GRCm39) W361R possibly damaging Het
Pcnx4 G T 12: 72,588,561 (GRCm39) S123I probably damaging Het
Pnp A G 14: 51,188,423 (GRCm39) N199S probably benign Het
Prr12 G T 7: 44,693,020 (GRCm39) P1504Q unknown Het
Pus7l T A 15: 94,438,666 (GRCm39) I60L probably benign Het
Strn3 A T 12: 51,656,894 (GRCm39) F795I possibly damaging Het
Stxbp3 A G 3: 108,710,911 (GRCm39) L327P probably damaging Het
Themis2 A G 4: 132,510,657 (GRCm39) probably null Het
Unc93b1 A G 19: 3,986,373 (GRCm39) I136V possibly damaging Het
Usp9y T A Y: 1,316,045 (GRCm39) Q2030L possibly damaging 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
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
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'- AGTCTCCGAATTCAGATGGTTCTAG -3'
(R):5'- CTGAGTCACAGCTCTTAAGTCAC -3'

Sequencing Primer
(F):5'- TCAGATGGTTCTAGTTAAATTTGCC -3'
(R):5'- GAGTCACAGCTCTTAAGTCACAAACC -3'
Posted On 2022-07-18