Incidental Mutation 'R9108:Uba6'
ID 692068
Institutional Source Beutler Lab
Gene Symbol Uba6
Ensembl Gene ENSMUSG00000035898
Gene Name ubiquitin-like modifier activating enzyme 6
Synonyms Ube1l2, 5730469D23Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9108 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 86258579-86320602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86282934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 581 (C581S)
Ref Sequence ENSEMBL: ENSMUSP00000035328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039373] [ENSMUST00000113373]
AlphaFold Q8C7R4
Predicted Effect possibly damaging
Transcript: ENSMUST00000039373
AA Change: C581S

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: C581S

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 possibly damaging
Transcript: ENSMUST00000113373
AA Change: C550S

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: C550S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G A 18: 6,638,794 (GRCm39) V398M probably benign Het
4930568D16Rik G A 2: 35,244,942 (GRCm39) P137S probably damaging Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Abcg8 A C 17: 85,000,243 (GRCm39) I268L probably benign Het
Acvrl1 A G 15: 101,039,038 (GRCm39) Q445R probably damaging Het
Adam17 T C 12: 21,380,132 (GRCm39) N625D probably benign Het
Adamts9 C T 6: 92,857,721 (GRCm39) V856M probably damaging Het
Adar T C 3: 89,643,474 (GRCm39) C452R probably damaging Het
Adgra3 G T 5: 50,136,295 (GRCm39) A730D probably damaging Het
Adnp2 C T 18: 80,185,925 (GRCm39) R16Q probably damaging Het
Aox1 T C 1: 58,321,851 (GRCm39) C48R probably damaging Het
Cabin1 T C 10: 75,492,973 (GRCm39) E1774G possibly damaging Het
Capsl A T 15: 9,465,910 (GRCm39) I199F possibly damaging Het
Ccdc191 T A 16: 43,718,512 (GRCm39) D36E possibly damaging Het
Cep170 T A 1: 176,616,051 (GRCm39) K86* probably null Het
Cnnm1 T C 19: 43,464,649 (GRCm39) F736S possibly damaging Het
Col11a2 T A 17: 34,276,634 (GRCm39) V532E probably benign Het
Dnmt3l T C 10: 77,892,756 (GRCm39) probably null Het
Dync1h1 T A 12: 110,622,706 (GRCm39) probably benign Het
Dzank1 C A 2: 144,364,391 (GRCm39) V69L probably benign Het
Epor T G 9: 21,870,875 (GRCm39) E335A probably damaging Het
Fbxo46 A T 7: 18,870,308 (GRCm39) Y309F probably damaging Het
Fra10ac1 A T 19: 38,202,779 (GRCm39) probably benign Het
Gid8 G T 2: 180,352,132 (GRCm39) probably benign Het
Gm57858 T G 3: 36,080,036 (GRCm39) *240C probably null Het
Gnptab C T 10: 88,269,400 (GRCm39) S701L Het
Ifnl3 T C 7: 28,223,704 (GRCm39) L180P probably benign Het
Ikzf2 T A 1: 69,577,956 (GRCm39) I518F probably damaging Het
Ildr1 A G 16: 36,535,919 (GRCm39) T145A probably benign Het
Kiss1r A T 10: 79,754,336 (GRCm39) probably benign Het
Lhpp A G 7: 132,252,018 (GRCm39) D219G probably damaging Het
Lrp1 A T 10: 127,390,206 (GRCm39) M3071K probably damaging Het
Map6 T C 7: 98,986,103 (GRCm39) L872P probably damaging Het
Mgst2 T A 3: 51,589,233 (GRCm39) L82Q probably damaging Het
Mier2 A T 10: 79,377,756 (GRCm39) V399E probably benign Het
Nms T C 1: 38,985,147 (GRCm39) V91A possibly damaging Het
Nt5dc2 T A 14: 30,857,016 (GRCm39) Y145* probably null Het
Olfml2a A T 2: 38,831,753 (GRCm39) M111L probably benign Het
Or5p63 T C 7: 107,810,846 (GRCm39) N297D probably damaging Het
Or5p75-ps1 T A 7: 108,107,779 (GRCm39) L172Q unknown Het
Plod3 T C 5: 137,018,017 (GRCm39) I221T probably damaging Het
Polm T C 11: 5,779,872 (GRCm39) Q342R probably benign Het
Ppp2r5c A T 12: 110,521,303 (GRCm39) L275F probably damaging Het
Prdm12 C T 2: 31,533,929 (GRCm39) T182M possibly damaging Het
Rasgrp2 G A 19: 6,458,890 (GRCm39) V440M probably damaging Het
Rnf111 C T 9: 70,336,846 (GRCm39) G947D probably damaging Het
Runx3 A T 4: 134,882,692 (GRCm39) M143L probably damaging Het
Samd9l T C 6: 3,373,104 (GRCm39) S1386G possibly damaging Het
Saxo2 C T 7: 82,284,082 (GRCm39) V259I probably benign Het
Shroom3 T C 5: 93,087,975 (GRCm39) S242P probably damaging Het
Slc35e1 G A 8: 73,246,030 (GRCm39) P134L Het
Spata31d1a A G 13: 59,850,982 (GRCm39) V382A probably benign Het
Tanc2 T A 11: 105,810,580 (GRCm39) probably benign Het
Tenm3 A T 8: 48,766,271 (GRCm39) probably null Het
Trip10 C T 17: 57,560,519 (GRCm39) A123V probably damaging Het
Trmt13 A G 3: 116,375,129 (GRCm39) S460P probably damaging Het
Trpd52l3 A G 19: 29,981,329 (GRCm39) N28S probably benign Het
Tubb4a A G 17: 57,388,232 (GRCm39) F265L probably benign Het
Uckl1 A G 2: 181,211,293 (GRCm39) V512A probably damaging Het
Usp34 A T 11: 23,320,528 (GRCm39) M957L Het
Vmn2r57 T C 7: 41,078,192 (GRCm39) I89V possibly damaging Het
Zfp1005 T A 2: 150,109,969 (GRCm39) C220S possibly damaging Het
Zfp322a T C 13: 23,541,437 (GRCm39) I102V probably benign Het
Zzef1 A G 11: 72,790,604 (GRCm39) D2186G probably benign 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
R5787:Uba6 UTSW 5 86,260,511 (GRCm39) makesense probably null
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
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'- GCACATATGGGTCAACCTGTCAG -3'
(R):5'- AAACTGTTACGTGGGTCATGTTC -3'

Sequencing Primer
(F):5'- GGTCAACCTGTCAGAGCTAAAGTC -3'
(R):5'- GTGGGTCATGTTCTATTCGCTACAC -3'
Posted On 2021-12-30