Incidental Mutation 'R4630:Ube2j2'
ID 349104
Institutional Source Beutler Lab
Gene Symbol Ube2j2
Ensembl Gene ENSMUSG00000023286
Gene Name ubiquitin-conjugating enzyme E2J 2
Synonyms 2400008G19Rik, 5730472G04Rik, Ubc6, 1200007B18Rik
MMRRC Submission 041895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4630 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 156028288-156044061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 156039715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 14 (I14N)
Ref Sequence ENSEMBL: ENSMUSP00000114235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024056] [ENSMUST00000103175] [ENSMUST00000105581] [ENSMUST00000105582] [ENSMUST00000105583] [ENSMUST00000118192] [ENSMUST00000166489] [ENSMUST00000152536]
AlphaFold Q6P073
Predicted Effect probably damaging
Transcript: ENSMUST00000024056
AA Change: I78N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286
AA Change: I78N

DomainStartEndE-ValueType
UBCc 27 181 3.22e-31 SMART
low complexity region 218 234 N/A INTRINSIC
Blast:UBCc 235 270 7e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000103175
AA Change: I66N

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099464
Gene: ENSMUSG00000023286
AA Change: I66N

DomainStartEndE-ValueType
UBCc 15 169 3.22e-31 SMART
low complexity region 206 222 N/A INTRINSIC
Blast:UBCc 223 258 7e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000105581
AA Change: I66N

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101206
Gene: ENSMUSG00000023286
AA Change: I66N

DomainStartEndE-ValueType
UBCc 15 169 3.22e-31 SMART
low complexity region 206 222 N/A INTRINSIC
Blast:UBCc 223 258 7e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000105582
AA Change: I78N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101207
Gene: ENSMUSG00000023286
AA Change: I78N

DomainStartEndE-ValueType
UBCc 27 181 3.22e-31 SMART
low complexity region 218 234 N/A INTRINSIC
Blast:UBCc 235 270 7e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000105583
AA Change: I78N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101208
Gene: ENSMUSG00000023286
AA Change: I78N

DomainStartEndE-ValueType
UBCc 27 181 3.22e-31 SMART
low complexity region 218 234 N/A INTRINSIC
Blast:UBCc 235 270 7e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000118192
AA Change: I66N

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112785
Gene: ENSMUSG00000023286
AA Change: I66N

DomainStartEndE-ValueType
UBCc 15 153 5.28e-27 SMART
low complexity region 179 195 N/A INTRINSIC
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151892
Predicted Effect probably benign
Transcript: ENSMUST00000166489
AA Change: I66N

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286
AA Change: I66N

DomainStartEndE-ValueType
UBCc 15 169 3.22e-31 SMART
low complexity region 206 222 N/A INTRINSIC
Blast:UBCc 223 258 7e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000152536
AA Change: I14N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114235
Gene: ENSMUSG00000023286
AA Change: I14N

DomainStartEndE-ValueType
UBCc 2 117 5.4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124092
Meta Mutation Damage Score 0.1955 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jag1 A T 2: 136,927,899 (GRCm39) D837E probably damaging Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pacs1 C T 19: 5,206,384 (GRCm39) probably null Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Rtkn A T 6: 83,129,163 (GRCm39) K540* probably null Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tlr4 A G 4: 66,757,477 (GRCm39) E90G probably benign Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zbtb38 T G 9: 96,570,904 (GRCm39) N60T probably damaging Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp518a C T 19: 40,901,423 (GRCm39) Q451* probably null Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) probably null Het
Other mutations in Ube2j2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Ube2j2 APN 4 156,040,904 (GRCm39) missense possibly damaging 0.79
IGL00951:Ube2j2 APN 4 156,030,834 (GRCm39) intron probably benign
IGL00953:Ube2j2 APN 4 156,030,834 (GRCm39) intron probably benign
IGL01732:Ube2j2 APN 4 156,041,788 (GRCm39) missense probably damaging 1.00
IGL02709:Ube2j2 APN 4 156,041,788 (GRCm39) missense probably damaging 1.00
R1903:Ube2j2 UTSW 4 156,033,483 (GRCm39) missense probably benign 0.13
R4172:Ube2j2 UTSW 4 156,033,543 (GRCm39) missense probably damaging 1.00
R4632:Ube2j2 UTSW 4 156,039,715 (GRCm39) missense probably damaging 0.98
R4999:Ube2j2 UTSW 4 156,030,841 (GRCm39) start codon destroyed probably null
R5000:Ube2j2 UTSW 4 156,030,841 (GRCm39) start codon destroyed probably null
R5249:Ube2j2 UTSW 4 156,033,515 (GRCm39) missense possibly damaging 0.85
R7225:Ube2j2 UTSW 4 156,033,773 (GRCm39) splice site probably null
R7436:Ube2j2 UTSW 4 156,041,788 (GRCm39) missense probably damaging 1.00
R7688:Ube2j2 UTSW 4 156,040,885 (GRCm39) missense probably damaging 0.98
R7995:Ube2j2 UTSW 4 156,041,795 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGAAGTGTTGGACAGTAGTGC -3'
(R):5'- GAGCCCTGTTAGAATGGTGGAG -3'

Sequencing Primer
(F):5'- TGGACAGTAGTGCAAGCCCTG -3'
(R):5'- ACCACGCTGGATTCCATG -3'
Posted On 2015-10-08