Incidental Mutation 'R5787:Uba6'
ID 448073
Institutional Source Beutler Lab
Gene Symbol Uba6
Ensembl Gene ENSMUSG00000035898
Gene Name ubiquitin-like modifier activating enzyme 6
Synonyms Ube1l2, 5730469D23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5787 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 86258579-86320602 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 86260511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 1023 (*1023Q)
Ref Sequence ENSEMBL: ENSMUSP00000109000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039373] [ENSMUST00000113373]
AlphaFold Q8C7R4
Predicted Effect probably null
Transcript: ENSMUST00000039373
AA Change: *1054Q
SMART Domains Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: *1054Q

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 null
Transcript: ENSMUST00000113373
AA Change: *1023Q
SMART Domains Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: *1023Q

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adam24 A G 8: 41,133,941 (GRCm39) N470D possibly damaging Het
Adcy8 T C 15: 64,576,067 (GRCm39) D1027G probably damaging Het
Amph A T 13: 19,132,624 (GRCm39) I8F possibly damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Atp6v0a1 A G 11: 100,909,400 (GRCm39) D43G probably benign Het
Bltp1 T C 3: 37,046,882 (GRCm39) probably null Het
Btnl10 T A 11: 58,811,169 (GRCm39) I164N probably damaging Het
Ccdc174 C T 6: 91,858,291 (GRCm39) Q71* probably null Het
Ceacam3 G A 7: 16,888,971 (GRCm39) E247K possibly damaging Het
Chrna2 A G 14: 66,386,457 (GRCm39) D201G probably benign Het
Clasp2 G A 9: 113,691,310 (GRCm39) D448N probably damaging Het
Clcn2 C A 16: 20,522,183 (GRCm39) R829L probably damaging Het
Clock A G 5: 76,384,898 (GRCm39) S440P probably damaging Het
Cntn2 T C 1: 132,450,797 (GRCm39) D29G probably damaging Het
Cpne4 A G 9: 104,899,600 (GRCm39) T428A probably benign Het
Cul3 T C 1: 80,260,438 (GRCm39) I304V probably benign Het
Cyp11a1 C A 9: 57,922,550 (GRCm39) Q77K probably benign Het
Cyp3a25 A G 5: 145,935,313 (GRCm39) V101A probably benign Het
Cyp4f15 T C 17: 32,921,782 (GRCm39) F485L probably damaging Het
Des T A 1: 75,340,290 (GRCm39) V399E probably damaging Het
Dhx58 T C 11: 100,592,145 (GRCm39) D301G possibly damaging Het
Ear6 A G 14: 52,091,855 (GRCm39) E134G probably benign Het
Eif2b3 A G 4: 116,901,637 (GRCm39) D100G probably damaging Het
Erich1 T C 8: 14,083,776 (GRCm39) probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Htr4 T C 18: 62,546,693 (GRCm39) V82A probably damaging Het
Hydin A G 8: 111,052,985 (GRCm39) D219G probably damaging Het
Ifit1 T A 19: 34,624,975 (GRCm39) V37E probably benign Het
Isg20 T A 7: 78,569,558 (GRCm39) D176E probably benign Het
Islr2 A G 9: 58,105,637 (GRCm39) V585A probably damaging Het
Kat6a A G 8: 23,422,663 (GRCm39) E991G probably damaging Het
Kcnv1 T C 15: 44,977,726 (GRCm39) Y104C probably damaging Het
Lrtm1 G C 14: 28,743,947 (GRCm39) E138D possibly damaging Het
Mllt3 A T 4: 87,759,057 (GRCm39) D330E probably damaging Het
Mpp7 T C 18: 7,461,682 (GRCm39) N64D probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Nop9 T G 14: 55,983,791 (GRCm39) C141G possibly damaging Het
Nos1ap T C 1: 170,146,141 (GRCm39) E471G probably benign Het
Npr2 A G 4: 43,633,593 (GRCm39) T246A possibly damaging Het
Or2t1 A C 14: 14,328,725 (GRCm38) M205L probably damaging Het
Or4a76 T A 2: 89,461,018 (GRCm39) I75F probably benign Het
Or6z1 A T 7: 6,504,989 (GRCm39) S79T probably damaging Het
Pdlim4 T A 11: 53,946,042 (GRCm39) D271V probably damaging Het
Pik3r6 T C 11: 68,430,753 (GRCm39) V518A possibly damaging Het
Rab5a C T 17: 53,804,650 (GRCm39) P87S probably damaging Het
Rbsn C T 6: 92,176,797 (GRCm39) V239I possibly damaging Het
Rsph14 T A 10: 74,793,460 (GRCm39) I314F possibly damaging Het
S1pr2 A T 9: 20,879,232 (GRCm39) S199T probably benign Het
Scrib A G 15: 75,931,151 (GRCm39) L902P probably damaging Het
Slc25a23 T C 17: 57,360,825 (GRCm39) T200A probably damaging Het
Slc8a1 A T 17: 81,696,166 (GRCm39) I956N probably damaging Het
Spef2 A G 15: 9,748,812 (GRCm39) V15A possibly damaging Het
Stim1 T A 7: 102,084,647 (GRCm39) V533E possibly damaging Het
Tbck A T 3: 132,443,329 (GRCm39) D585V probably damaging Het
Tpr T A 1: 150,271,037 (GRCm39) L80Q probably benign Het
Trim67 C T 8: 125,521,051 (GRCm39) R138* probably null Het
Ttn T C 2: 76,580,627 (GRCm39) N23422S probably damaging Het
Vmn1r208 T C 13: 22,956,841 (GRCm39) N219D possibly damaging Het
Vmn1r8 T A 6: 57,013,244 (GRCm39) S98R probably damaging Het
Other mutations in Uba6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Uba6 APN 5 86,267,266 (GRCm39) missense possibly damaging 0.51
IGL01294:Uba6 APN 5 86,297,907 (GRCm39) missense possibly damaging 0.67
IGL01625:Uba6 APN 5 86,268,388 (GRCm39) nonsense probably null
IGL01807:Uba6 APN 5 86,270,270 (GRCm39) missense probably damaging 1.00
IGL01919:Uba6 APN 5 86,267,245 (GRCm39) missense probably benign 0.01
IGL02131:Uba6 APN 5 86,297,936 (GRCm39) missense probably benign 0.18
IGL03107:Uba6 APN 5 86,275,633 (GRCm39) splice site probably benign
R0314:Uba6 UTSW 5 86,265,946 (GRCm39) missense probably damaging 0.99
R0350:Uba6 UTSW 5 86,292,237 (GRCm39) missense possibly damaging 0.48
R0511:Uba6 UTSW 5 86,260,609 (GRCm39) missense probably damaging 1.00
R0964:Uba6 UTSW 5 86,267,260 (GRCm39) missense possibly damaging 0.47
R1086:Uba6 UTSW 5 86,275,578 (GRCm39) missense probably benign 0.00
R1440:Uba6 UTSW 5 86,288,282 (GRCm39) missense probably damaging 1.00
R1564:Uba6 UTSW 5 86,302,266 (GRCm39) missense probably benign
R2377:Uba6 UTSW 5 86,272,229 (GRCm39) missense possibly damaging 0.90
R2420:Uba6 UTSW 5 86,280,475 (GRCm39) critical splice donor site probably null
R2421:Uba6 UTSW 5 86,280,475 (GRCm39) critical splice donor site probably null
R2422:Uba6 UTSW 5 86,280,475 (GRCm39) critical splice donor site probably null
R2924:Uba6 UTSW 5 86,307,130 (GRCm39) missense probably damaging 1.00
R3723:Uba6 UTSW 5 86,282,906 (GRCm39) missense probably damaging 1.00
R3724:Uba6 UTSW 5 86,282,906 (GRCm39) missense probably damaging 1.00
R4429:Uba6 UTSW 5 86,268,406 (GRCm39) missense probably damaging 0.99
R4590:Uba6 UTSW 5 86,260,603 (GRCm39) missense probably damaging 1.00
R4831:Uba6 UTSW 5 86,279,197 (GRCm39) missense probably benign
R4908:Uba6 UTSW 5 86,288,293 (GRCm39) splice site silent
R5193:Uba6 UTSW 5 86,272,281 (GRCm39) missense probably benign 0.12
R5505:Uba6 UTSW 5 86,268,405 (GRCm39) missense probably benign 0.09
R5560:Uba6 UTSW 5 86,279,119 (GRCm39) missense probably damaging 1.00
R5586:Uba6 UTSW 5 86,282,906 (GRCm39) missense probably damaging 1.00
R5589:Uba6 UTSW 5 86,270,288 (GRCm39) missense probably damaging 0.99
R6255:Uba6 UTSW 5 86,312,624 (GRCm39) missense probably benign 0.25
R6512:Uba6 UTSW 5 86,272,262 (GRCm39) missense probably benign
R6772:Uba6 UTSW 5 86,294,932 (GRCm39) critical splice donor site probably benign
R7536:Uba6 UTSW 5 86,272,191 (GRCm39) missense probably benign 0.05
R7571:Uba6 UTSW 5 86,294,970 (GRCm39) missense probably benign 0.02
R7609:Uba6 UTSW 5 86,294,934 (GRCm39) missense probably benign 0.17
R7768:Uba6 UTSW 5 86,300,779 (GRCm39) missense probably benign 0.01
R7839:Uba6 UTSW 5 86,270,271 (GRCm39) splice site probably null
R7866:Uba6 UTSW 5 86,320,560 (GRCm39) missense probably damaging 0.99
R7894:Uba6 UTSW 5 86,265,924 (GRCm39) nonsense probably null
R8063:Uba6 UTSW 5 86,300,544 (GRCm39) missense probably benign 0.29
R8276:Uba6 UTSW 5 86,290,509 (GRCm39) intron probably benign
R8382:Uba6 UTSW 5 86,279,196 (GRCm39) missense probably benign 0.01
R8516:Uba6 UTSW 5 86,275,607 (GRCm39) missense possibly damaging 0.78
R8673:Uba6 UTSW 5 86,284,178 (GRCm39) missense probably damaging 1.00
R8778:Uba6 UTSW 5 86,260,556 (GRCm39) missense possibly damaging 0.54
R8817:Uba6 UTSW 5 86,296,772 (GRCm39) missense probably null 0.10
R8822:Uba6 UTSW 5 86,294,932 (GRCm39) critical splice donor site probably benign
R8852:Uba6 UTSW 5 86,289,454 (GRCm39) missense possibly damaging 0.47
R8887:Uba6 UTSW 5 86,307,061 (GRCm39) critical splice donor site probably null
R9108:Uba6 UTSW 5 86,282,934 (GRCm39) missense possibly damaging 0.69
R9245:Uba6 UTSW 5 86,318,418 (GRCm39) missense probably damaging 1.00
R9511:Uba6 UTSW 5 86,288,219 (GRCm39) missense probably damaging 1.00
R9669:Uba6 UTSW 5 86,268,499 (GRCm39) missense probably benign 0.05
R9677:Uba6 UTSW 5 86,265,910 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAACAGACAAATGTGTACTATGCTTC -3'
(R):5'- TGCAAGTTCAATCTCTGACTAGTAC -3'

Sequencing Primer
(F):5'- GCTTCAAAATGGTTTGTAATTCTCC -3'
(R):5'- AGCCTTCCACTGAGAAGA -3'
Posted On 2016-12-15