Incidental Mutation 'IGL03121:Ube2q2'
ID409990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2q2
Ensembl Gene ENSMUSG00000032307
Gene Nameubiquitin-conjugating enzyme E2Q family member 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.369) question?
Stock #IGL03121
Quality Score
Status
Chromosome9
Chromosomal Location55148854-55207529 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 55195039 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059555] [ENSMUST00000121677] [ENSMUST00000122441]
Predicted Effect probably benign
Transcript: ENSMUST00000059555
SMART Domains Protein: ENSMUSP00000059798
Gene: ENSMUSG00000032307

DomainStartEndE-ValueType
RWD 8 127 4.77e-1 SMART
low complexity region 138 155 N/A INTRINSIC
Blast:UBCc 156 199 1e-19 BLAST
UBCc 210 371 5.51e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121677
SMART Domains Protein: ENSMUSP00000113336
Gene: ENSMUSG00000032307

DomainStartEndE-ValueType
Pfam:RWD 1 122 3e-7 PFAM
UBCc 175 336 5.51e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122441
SMART Domains Protein: ENSMUSP00000112745
Gene: ENSMUSG00000032307

DomainStartEndE-ValueType
low complexity region 15 32 N/A INTRINSIC
Blast:UBCc 33 76 2e-20 BLAST
UBCc 87 248 5.51e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148468
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B09Rik A G 9: 14,761,650 S4P possibly damaging Het
A2m A G 6: 121,641,306 N186S probably benign Het
Ago1 T C 4: 126,460,003 K261R probably benign Het
Alas1 G A 9: 106,246,914 P15L probably damaging Het
Aox2 G A 1: 58,358,954 V1285M probably damaging Het
Brd8 A T 18: 34,606,687 F678I probably damaging Het
Col27a1 T A 4: 63,225,209 M378K probably benign Het
Dpy19l4 C A 4: 11,303,334 V196F probably damaging Het
Dst G T 1: 34,217,803 probably benign Het
Gm3106 T C 5: 94,221,053 V469A possibly damaging Het
Hsd17b1 T A 11: 101,080,044 Y275* probably null Het
Kdm3b A G 18: 34,795,709 E171G probably damaging Het
Klc1 T C 12: 111,781,642 probably benign Het
Mlkl G A 8: 111,314,980 R443W probably damaging Het
Mov10 A T 3: 104,801,002 V477E probably benign Het
Nacad A G 11: 6,600,933 S753P probably damaging Het
Ncapd2 A C 6: 125,173,612 M842R probably benign Het
Nkd2 C A 13: 73,821,379 A311S probably benign Het
Nrg1 A G 8: 31,824,580 probably benign Het
Olfr1310 A G 2: 112,008,608 Y193H probably benign Het
Olfr780 A G 10: 129,322,168 I182V probably benign Het
Pde6h A G 6: 136,959,282 S8G probably null Het
Pik3c2b A G 1: 133,079,745 K616E probably benign Het
Pnpt1 A T 11: 29,132,845 R54S probably benign Het
Rttn A G 18: 88,975,751 D184G probably damaging Het
Skint5 T A 4: 113,717,087 I756F unknown Het
Slc24a2 T C 4: 87,226,906 T304A probably benign Het
Spata5 T C 3: 37,464,651 I778T probably damaging Het
Stk3 A T 15: 35,099,426 probably benign Het
Trim69 A G 2: 122,167,647 I33M probably benign Het
Vmn1r67 T A 7: 10,447,467 N158K probably benign Het
Wipi2 G A 5: 142,663,102 E252K probably benign Het
Other mutations in Ube2q2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02037:Ube2q2 APN 9 55168218 missense probably damaging 0.98
IGL02380:Ube2q2 APN 9 55163012 missense probably benign 0.01
IGL02523:Ube2q2 APN 9 55191879 missense probably damaging 0.99
R0239:Ube2q2 UTSW 9 55163007 missense probably damaging 0.99
R0239:Ube2q2 UTSW 9 55163007 missense probably damaging 0.99
R1180:Ube2q2 UTSW 9 55195416 splice site probably benign
R2185:Ube2q2 UTSW 9 55195082 splice site probably null
R2570:Ube2q2 UTSW 9 55191856 missense probably benign 0.44
R4513:Ube2q2 UTSW 9 55149800 missense probably benign 0.38
R5099:Ube2q2 UTSW 9 55206023 unclassified probably benign
R5541:Ube2q2 UTSW 9 55191879 missense possibly damaging 0.68
R6189:Ube2q2 UTSW 9 55162983 missense probably benign 0.00
R7382:Ube2q2 UTSW 9 55163014 missense probably damaging 1.00
R8427:Ube2q2 UTSW 9 55184966 critical splice donor site probably null
R8782:Ube2q2 UTSW 9 55163070 critical splice donor site probably null
R8844:Ube2q2 UTSW 9 55195473 missense
Z1176:Ube2q2 UTSW 9 55180574 missense possibly damaging 0.95
Posted On2016-08-02