Incidental Mutation 'R0033:Uba5'
ID 201270
Institutional Source Beutler Lab
Gene Symbol Uba5
Ensembl Gene ENSMUSG00000032557
Gene Name ubiquitin-like modifier activating enzyme 5
Synonyms 5730525G14Rik, Ube1dc1
MMRRC Submission 038327-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0033 (G1)
Quality Score 64
Status Validated
Chromosome 9
Chromosomal Location 103923798-103940333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103931347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 241 (T241S)
Ref Sequence ENSEMBL: ENSMUSP00000035166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035166] [ENSMUST00000140768] [ENSMUST00000144195]
AlphaFold Q8VE47
Predicted Effect probably benign
Transcript: ENSMUST00000035166
AA Change: T241S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000035166
Gene: ENSMUSG00000032557
AA Change: T241S

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
Pfam:ThiF 51 309 2.8e-48 PFAM
low complexity region 317 332 N/A INTRINSIC
low complexity region 343 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140768
SMART Domains Protein: ENSMUSP00000118734
Gene: ENSMUSG00000032557

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
Pfam:ThiF 70 101 1.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144195
SMART Domains Protein: ENSMUSP00000118535
Gene: ENSMUSG00000032557

DomainStartEndE-ValueType
Pfam:ThiF 1 119 1.9e-22 PFAM
low complexity region 220 235 N/A INTRINSIC
low complexity region 246 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147249
SMART Domains Protein: ENSMUSP00000115381
Gene: ENSMUSG00000101152

DomainStartEndE-ValueType
Pfam:TPR_12 1 48 3e-14 PFAM
Pfam:TPR_12 12 75 2.1e-14 PFAM
Pfam:TPR_10 15 56 7.8e-13 PFAM
Pfam:TPR_1 16 49 4.4e-9 PFAM
Pfam:TPR_7 18 58 7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193563
Predicted Effect probably benign
Transcript: ENSMUST00000214222
Meta Mutation Damage Score 0.1912 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 100% (81/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele die at E12.5. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,115,794 (GRCm39) F110L probably damaging Het
Agr3 C T 12: 35,978,329 (GRCm39) T14M possibly damaging Het
Ankib1 A C 5: 3,819,588 (GRCm39) D110E possibly damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
Cacna1d T A 14: 29,827,446 (GRCm39) Q993L probably damaging Het
Cdkn3 C A 14: 47,006,329 (GRCm39) Y141* probably null Het
Ceacam12 T G 7: 17,803,385 (GRCm39) probably benign Het
Celf1 T C 2: 90,831,798 (GRCm39) probably benign Het
Col6a3 A G 1: 90,729,967 (GRCm39) S1780P probably damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Ctss G A 3: 95,452,888 (GRCm39) probably benign Het
Emilin2 G T 17: 71,582,009 (GRCm39) T239K probably benign Het
Erp44 T C 4: 48,241,289 (GRCm39) probably benign Het
Fbxl4 T C 4: 22,377,017 (GRCm39) V151A probably damaging Het
Fer1l4 G A 2: 155,866,026 (GRCm39) probably benign Het
Gm43302 T C 5: 105,424,710 (GRCm39) D310G probably benign Het
Gstk1 A G 6: 42,223,737 (GRCm39) probably benign Het
Hapln1 A T 13: 89,749,932 (GRCm39) Q159L probably benign Het
Hibch A G 1: 52,944,610 (GRCm39) K296R probably null Het
Katnip T G 7: 125,360,999 (GRCm39) V103G possibly damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kdm7a A T 6: 39,142,131 (GRCm39) Y382* probably null Het
Kirrel3 A G 9: 34,912,259 (GRCm39) I208V probably benign Het
Klc4 A T 17: 46,946,359 (GRCm39) C489S probably damaging Het
Lrrc8a G T 2: 30,145,357 (GRCm39) C57F probably damaging Het
Ltbp1 A G 17: 75,583,504 (GRCm39) N435D possibly damaging Het
Macc1 T A 12: 119,410,076 (GRCm39) N281K probably benign Het
Myo16 A T 8: 10,420,955 (GRCm39) Y265F probably damaging Het
Myoc G A 1: 162,476,010 (GRCm39) G238E probably damaging Het
Nlrp12 A C 7: 3,289,037 (GRCm39) S492A probably damaging Het
Obscn A G 11: 58,885,572 (GRCm39) probably benign Het
Oplah T A 15: 76,181,334 (GRCm39) Q1202L probably benign Het
Or5p62 G T 7: 107,771,134 (GRCm39) D272E probably benign Het
Or9s23 A G 1: 92,500,982 (GRCm39) T30A probably benign Het
Ppargc1b G A 18: 61,440,765 (GRCm39) R718W probably damaging Het
Pramel19 A T 4: 101,798,881 (GRCm39) Y284F probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rnf225 T C 7: 12,662,085 (GRCm39) L88P probably damaging Het
Slc12a1 A G 2: 125,055,929 (GRCm39) D820G probably benign Het
Slc12a4 G T 8: 106,674,111 (GRCm39) probably benign Het
Slx4 C T 16: 3,805,864 (GRCm39) A72T probably benign Het
Snrnp200 T C 2: 127,079,983 (GRCm39) I1920T probably damaging Het
Stap2 C T 17: 56,306,976 (GRCm39) V234M probably damaging Het
Sv2b A G 7: 74,767,489 (GRCm39) F636L probably benign Het
Tdp1 C T 12: 99,901,311 (GRCm39) T531I probably benign Het
Thra G A 11: 98,655,178 (GRCm39) V353I probably benign Het
Tm7sf2 A G 19: 6,116,452 (GRCm39) probably benign Het
Tmx4 A T 2: 134,442,918 (GRCm39) probably null Het
Tnfrsf12a A G 17: 23,895,119 (GRCm39) probably null Het
Trav6n-5 T A 14: 53,342,368 (GRCm39) M14K probably benign Het
Ttn T A 2: 76,572,624 (GRCm39) I26090F probably damaging Het
Tut1 G T 19: 8,940,123 (GRCm39) R369L probably benign Het
Unc13d T C 11: 115,959,991 (GRCm39) T597A probably benign Het
Vmn1r58 A T 7: 5,413,387 (GRCm39) I281K probably damaging Het
Vmn1r59 A G 7: 5,457,433 (GRCm39) V109A probably benign Het
Xdh T A 17: 74,214,627 (GRCm39) M773L probably benign Het
Zfp64 A T 2: 168,767,635 (GRCm39) I659N possibly damaging Het
Other mutations in Uba5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02238:Uba5 APN 9 103,931,259 (GRCm39) splice site probably benign
IGL02891:Uba5 APN 9 103,931,392 (GRCm39) splice site probably benign
IGL03182:Uba5 APN 9 103,931,328 (GRCm39) missense possibly damaging 0.78
3-1:Uba5 UTSW 9 103,937,591 (GRCm39) critical splice donor site probably null
PIT4810001:Uba5 UTSW 9 103,932,396 (GRCm39) missense probably damaging 1.00
R0033:Uba5 UTSW 9 103,931,347 (GRCm39) missense probably benign 0.01
R0745:Uba5 UTSW 9 103,926,710 (GRCm39) unclassified probably benign
R1018:Uba5 UTSW 9 103,927,102 (GRCm39) missense probably benign 0.00
R1163:Uba5 UTSW 9 103,933,025 (GRCm39) missense possibly damaging 0.70
R1771:Uba5 UTSW 9 103,927,107 (GRCm39) missense probably damaging 1.00
R2164:Uba5 UTSW 9 103,937,442 (GRCm39) missense probably damaging 1.00
R3916:Uba5 UTSW 9 103,931,389 (GRCm39) missense probably damaging 1.00
R5072:Uba5 UTSW 9 103,931,626 (GRCm39) missense probably damaging 1.00
R5177:Uba5 UTSW 9 103,926,497 (GRCm39) missense probably benign
R5563:Uba5 UTSW 9 103,926,446 (GRCm39) missense probably benign 0.18
R6606:Uba5 UTSW 9 103,932,420 (GRCm39) missense probably damaging 1.00
R7258:Uba5 UTSW 9 103,940,132 (GRCm39) missense unknown
R7337:Uba5 UTSW 9 103,932,454 (GRCm39) missense possibly damaging 0.72
R9546:Uba5 UTSW 9 103,931,567 (GRCm39) missense probably damaging 0.99
R9547:Uba5 UTSW 9 103,931,567 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AATCTAAGCCCTGGTCTCCACCTAC -3'
(R):5'- TGTCTGCCATTCCAAGGAGCCAAG -3'

Sequencing Primer
(F):5'- GCATTCTCATAATAGAGCCTCTGG -3'
(R):5'- CCAAGGAGCCAAGGGGTG -3'
Posted On 2014-05-27