Incidental Mutation 'IGL00951:Ube2j2'
ID278108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2j2
Ensembl Gene ENSMUSG00000023286
Gene Nameubiquitin-conjugating enzyme E2J 2
Synonyms1200007B18Rik, Ubc6, 5730472G04Rik, 2400008G19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00951
Quality Score
Status
Chromosome4
Chromosomal Location155943831-155959604 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 155946377 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024056] [ENSMUST00000103175] [ENSMUST00000105581] [ENSMUST00000105582] [ENSMUST00000105583] [ENSMUST00000118192] [ENSMUST00000136492] [ENSMUST00000152536] [ENSMUST00000166489]
Predicted Effect probably benign
Transcript: ENSMUST00000024056
SMART Domains Protein: ENSMUSP00000024056
Gene: ENSMUSG00000023286

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
SMART Domains Protein: ENSMUSP00000099464
Gene: ENSMUSG00000023286

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
SMART Domains Protein: ENSMUSP00000101206
Gene: ENSMUSG00000023286

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: ENSMUST00000105582
SMART Domains Protein: ENSMUSP00000101207
Gene: ENSMUSG00000023286

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: ENSMUST00000105583
SMART Domains Protein: ENSMUSP00000101208
Gene: ENSMUSG00000023286

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
SMART Domains Protein: ENSMUSP00000112785
Gene: ENSMUSG00000023286

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 probably benign
Transcript: ENSMUST00000136492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150846
Predicted Effect probably benign
Transcript: ENSMUST00000152536
SMART Domains Protein: ENSMUSP00000114235
Gene: ENSMUSG00000023286

DomainStartEndE-ValueType
UBCc 2 117 5.4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166489
SMART Domains Protein: ENSMUSP00000127712
Gene: ENSMUSG00000023286

DomainStartEndE-ValueType
UBCc 15 169 3.22e-31 SMART
low complexity region 206 222 N/A INTRINSIC
Blast:UBCc 223 258 7e-6 BLAST
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. 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 C A 9: 99,505,704 R388L probably benign Het
Bcan T C 3: 87,994,174 E407G probably damaging Het
Brms1l A G 12: 55,866,049 I276V possibly damaging Het
Brpf1 C A 6: 113,322,553 D1182E probably damaging Het
Clpb A G 7: 101,751,260 M268V probably benign Het
Cpne8 A T 15: 90,601,893 probably benign Het
Ddx25 A T 9: 35,552,835 probably null Het
Dgki A G 6: 37,000,159 M672T probably damaging Het
Fhdc1 T C 3: 84,464,313 T112A possibly damaging Het
Galnt7 A T 8: 57,583,824 M177K probably damaging Het
Gucy1a1 T C 3: 82,111,191 D113G probably benign Het
Hp T C 8: 109,577,497 D24G possibly damaging Het
Jak2 A G 19: 29,299,583 R847G probably damaging Het
Lama2 A T 10: 27,030,285 D2391E probably benign Het
Mpzl1 A G 1: 165,605,822 F87L probably damaging Het
Ms4a4d A T 19: 11,554,921 I144F probably benign Het
Olfr152 A T 2: 87,782,539 I2F probably benign Het
Olfr186 G A 16: 59,027,853 T18I probably benign Het
Olfr191 A C 16: 59,086,393 L30R possibly damaging Het
Olfr214 G A 6: 116,557,066 V214I probably benign Het
Olfr818 A G 10: 129,945,712 S2P probably damaging Het
Prr16 A G 18: 51,303,339 R297G probably damaging Het
Ralgps1 A C 2: 33,273,602 L148V probably damaging Het
Rara A G 11: 98,968,166 D150G probably benign Het
Rb1 A T 14: 73,322,072 V64D probably damaging Het
Ros1 A G 10: 52,143,252 Y742H probably damaging Het
Rpl7a A G 2: 26,912,429 D160G possibly damaging Het
Sdccag8 A G 1: 176,878,002 M461V possibly damaging Het
Tagln T A 9: 45,930,872 N141I probably benign Het
Tas2r137 A T 6: 40,491,979 R248* probably null Het
Ulk1 A G 5: 110,792,404 C384R possibly damaging Het
Ush2a A T 1: 188,263,465 E144D probably benign Het
Vkorc1l1 C T 5: 129,982,267 T144I probably benign Het
Zfp235 T C 7: 24,137,080 F17S probably damaging Het
Other mutations in Ube2j2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Ube2j2 APN 4 155956447 missense possibly damaging 0.79
IGL00953:Ube2j2 APN 4 155946377 intron probably benign
IGL01732:Ube2j2 APN 4 155957331 missense probably damaging 1.00
IGL02709:Ube2j2 APN 4 155957331 missense probably damaging 1.00
R1903:Ube2j2 UTSW 4 155949026 missense probably benign 0.13
R4172:Ube2j2 UTSW 4 155949086 missense probably damaging 1.00
R4630:Ube2j2 UTSW 4 155955258 missense probably damaging 0.98
R4632:Ube2j2 UTSW 4 155955258 missense probably damaging 0.98
R4999:Ube2j2 UTSW 4 155946384 start codon destroyed probably null
R5000:Ube2j2 UTSW 4 155946384 start codon destroyed probably null
R5249:Ube2j2 UTSW 4 155949058 missense possibly damaging 0.85
R7225:Ube2j2 UTSW 4 155949316 intron probably null
R7436:Ube2j2 UTSW 4 155957331 missense probably damaging 1.00
R7688:Ube2j2 UTSW 4 155956428 missense probably damaging 0.98
R7995:Ube2j2 UTSW 4 155957338 nonsense probably null
Posted On2015-04-16