Incidental Mutation 'IGL02131:Uba6'
ID281192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uba6
Ensembl Gene ENSMUSG00000035898
Gene Nameubiquitin-like modifier activating enzyme 6
SynonymsUbe1l2, 5730469D23Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02131
Quality Score
Status
Chromosome5
Chromosomal Location86109287-86172803 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 86150077 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 246 (T246K)
Ref Sequence ENSEMBL: ENSMUSP00000109000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039373] [ENSMUST00000113373]
Predicted Effect probably benign
Transcript: ENSMUST00000039373
AA Change: T277K

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: T277K

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Pfam:ThiF 44 431 8.9e-29 PFAM
Pfam:E1_FCCH 224 293 1.7e-28 PFAM
Pfam:E1_4HB 294 362 9.8e-21 PFAM
internal_repeat_1 443 588 1.25e-6 PROSPERO
Pfam:UBA_e1_thiolCys 631 884 3.7e-80 PFAM
UBA_e1_C 921 1043 1.04e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113373
AA Change: T246K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: T246K

DomainStartEndE-ValueType
Pfam:ThiF 29 167 1.8e-16 PFAM
Pfam:ThiF 428 573 8.5e-34 PFAM
Pfam:UBA_e1_thiolCys 575 619 2.3e-22 PFAM
Pfam:UBACT 817 885 2.9e-28 PFAM
UBA_e1_C 890 1012 1.04e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147734
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice homozygous for a conditional allele activated in neurons exhibit decreased weight, postnatal and premature lethality and altered social behavior and neuronal development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T A 17: 79,627,655 probably benign Het
Adamts19 A G 18: 59,052,660 Y1202C probably damaging Het
Adgrf1 T A 17: 43,303,747 F241I probably damaging Het
Ankrd11 A T 8: 122,894,410 I901N probably damaging Het
Anxa8 A T 14: 34,090,631 D46V possibly damaging Het
Ap4e1 A G 2: 127,061,929 Y917C probably benign Het
Arhgap40 G A 2: 158,531,939 probably null Het
Dnah17 A G 11: 118,072,908 V2513A probably damaging Het
Dnhd1 T C 7: 105,720,802 L4478P probably damaging Het
Dtx3 T C 10: 127,193,279 D30G probably damaging Het
Fat2 A G 11: 55,309,042 Y1069H probably damaging Het
Fbxo21 T A 5: 118,002,090 N538K possibly damaging Het
Frem1 T C 4: 82,924,854 T1748A probably benign Het
Kcnh6 T C 11: 106,020,175 Y466H probably damaging Het
Kif2c G A 4: 117,177,953 S41L possibly damaging Het
Kir3dl2 T A X: 136,457,713 H52L possibly damaging Het
Mageb18 A G X: 92,120,049 C196R possibly damaging Het
Mrpl9 T A 3: 94,444,713 probably null Het
Nt5c1b A G 12: 10,375,491 I345V possibly damaging Het
Olfr137 T A 17: 38,304,648 H271L probably benign Het
Olfr251 A G 9: 38,377,907 T9A probably benign Het
Olfr517 T C 7: 108,868,208 *315W probably null Het
Parp8 T C 13: 116,910,873 N221S probably benign Het
Plbd1 T C 6: 136,661,683 probably benign Het
Recql5 C A 11: 115,923,242 W86L probably benign Het
Rgs6 T C 12: 83,069,495 S232P probably damaging Het
Rnf182 A G 13: 43,668,342 H123R probably benign Het
Rtf2 A G 2: 172,466,292 T204A unknown Het
Sema4d T C 13: 51,702,937 probably null Het
Sept8 T C 11: 53,537,857 S408P possibly damaging Het
Serpini1 A G 3: 75,640,704 N396D probably benign Het
Slc26a2 A C 18: 61,198,812 F516V possibly damaging Het
Tcf4 A G 18: 69,564,626 probably benign Het
Trrap G T 5: 144,840,436 G3045W probably damaging Het
Tspo2 T A 17: 48,449,061 T91S possibly damaging Het
Ttn T C 2: 76,737,614 D27645G probably damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wwp2 T A 8: 107,552,318 M136K probably damaging Het
Zranb3 A T 1: 127,992,951 V412D probably damaging Het
Other mutations in Uba6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Uba6 APN 5 86119407 missense possibly damaging 0.51
IGL01294:Uba6 APN 5 86150048 missense possibly damaging 0.67
IGL01625:Uba6 APN 5 86120529 nonsense probably null
IGL01807:Uba6 APN 5 86122411 missense probably damaging 1.00
IGL01919:Uba6 APN 5 86119386 missense probably benign 0.01
IGL03107:Uba6 APN 5 86127774 splice site probably benign
R0314:Uba6 UTSW 5 86118087 missense probably damaging 0.99
R0350:Uba6 UTSW 5 86144378 missense possibly damaging 0.48
R0511:Uba6 UTSW 5 86112750 missense probably damaging 1.00
R0964:Uba6 UTSW 5 86119401 missense possibly damaging 0.47
R1086:Uba6 UTSW 5 86127719 missense probably benign 0.00
R1440:Uba6 UTSW 5 86140423 missense probably damaging 1.00
R1564:Uba6 UTSW 5 86154407 missense probably benign
R2377:Uba6 UTSW 5 86124370 missense possibly damaging 0.90
R2420:Uba6 UTSW 5 86132616 critical splice donor site probably null
R2421:Uba6 UTSW 5 86132616 critical splice donor site probably null
R2422:Uba6 UTSW 5 86132616 critical splice donor site probably null
R2924:Uba6 UTSW 5 86159271 missense probably damaging 1.00
R3723:Uba6 UTSW 5 86135047 missense probably damaging 1.00
R3724:Uba6 UTSW 5 86135047 missense probably damaging 1.00
R4429:Uba6 UTSW 5 86120547 missense probably damaging 0.99
R4590:Uba6 UTSW 5 86112744 missense probably damaging 1.00
R4831:Uba6 UTSW 5 86131338 missense probably benign
R4908:Uba6 UTSW 5 86140434 splice site silent
R5193:Uba6 UTSW 5 86124422 missense probably benign 0.12
R5505:Uba6 UTSW 5 86120546 missense probably benign 0.09
R5560:Uba6 UTSW 5 86131260 missense probably damaging 1.00
R5586:Uba6 UTSW 5 86135047 missense probably damaging 1.00
R5589:Uba6 UTSW 5 86122429 missense probably damaging 0.99
R5787:Uba6 UTSW 5 86112652 makesense probably null
R6255:Uba6 UTSW 5 86164765 missense probably benign 0.25
R6512:Uba6 UTSW 5 86124403 missense probably benign
R6772:Uba6 UTSW 5 86147073 critical splice donor site probably null
R7536:Uba6 UTSW 5 86124332 missense probably benign 0.05
R7571:Uba6 UTSW 5 86147111 missense probably benign 0.02
R7609:Uba6 UTSW 5 86147075 missense probably benign 0.17
R7768:Uba6 UTSW 5 86152920 missense probably benign 0.01
Posted On2015-04-16