Incidental Mutation 'R3916:Uba5'
ID 309754
Institutional Source Beutler Lab
Gene Symbol Uba5
Ensembl Gene ENSMUSG00000032557
Gene Name ubiquitin-like modifier activating enzyme 5
Synonyms Ube1dc1, 5730525G14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3916 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 104046599-104063134 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104054190 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 227 (C227S)
Ref Sequence ENSEMBL: ENSMUSP00000035166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035166] [ENSMUST00000140768] [ENSMUST00000144195]
AlphaFold Q8VE47
Predicted Effect probably damaging
Transcript: ENSMUST00000035166
AA Change: C227S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035166
Gene: ENSMUSG00000032557
AA Change: C227S

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

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

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

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T G 2: 68,731,985 (GRCm38) F319V possibly damaging Het
Acad12 A G 5: 121,599,214 (GRCm38) V498A probably damaging Het
Adam19 A G 11: 46,060,935 (GRCm38) E37G probably benign Het
Anks3 A G 16: 4,947,279 (GRCm38) Y423H probably damaging Het
Arfgef1 A T 1: 10,189,443 (GRCm38) V600D probably benign Het
Arhgef18 T C 8: 3,454,197 (GRCm38) F939L probably benign Het
Arhgef2 A G 3: 88,633,033 (GRCm38) N127S probably damaging Het
Arid1b A G 17: 5,342,653 (GRCm38) S2100G probably benign Het
Atp1b2 A G 11: 69,603,075 (GRCm38) V93A probably damaging Het
Atrnl1 T C 19: 57,935,652 (GRCm38) V1283A possibly damaging Het
Bpifb5 A C 2: 154,228,181 (GRCm38) K184Q probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cant1 A G 11: 118,408,746 (GRCm38) V259A probably damaging Het
Ccdc89 A G 7: 90,426,825 (GRCm38) D81G probably damaging Het
Cntnap4 C G 8: 112,875,533 (GRCm38) P1190A probably benign Het
Colgalt2 T A 1: 152,508,611 (GRCm38) Y567* probably null Het
Cyp4f18 A T 8: 71,996,037 (GRCm38) F256Y probably benign Het
Ddx41 G A 13: 55,534,480 (GRCm38) R205W possibly damaging Het
Dop1a G A 9: 86,521,133 (GRCm38) R1462H probably damaging Het
Dync1i2 A G 2: 71,249,372 (GRCm38) T377A probably damaging Het
F2 G A 2: 91,625,488 (GRCm38) T600M probably damaging Het
Fam91a1 C T 15: 58,430,734 (GRCm38) H308Y probably damaging Het
Fkbp2 C A 19: 6,978,557 (GRCm38) probably null Het
Gabarapl2 T A 8: 111,952,396 (GRCm38) F115L probably benign Het
Heatr3 T G 8: 88,150,371 (GRCm38) probably null Het
Ifi204 T G 1: 173,755,775 (GRCm38) K292N possibly damaging Het
Itpkc A T 7: 27,228,303 (GRCm38) I62N probably benign Het
Kcnab1 G A 3: 65,304,164 (GRCm38) probably null Het
Krt88 G A 15: 101,452,928 (GRCm38) probably null Het
Larp4 C T 15: 99,990,403 (GRCm38) T107I probably benign Het
Lmo7 T C 14: 101,929,342 (GRCm38) probably benign Het
Lrrc37a T C 11: 103,455,518 (GRCm38) Y3174C possibly damaging Het
Lyzl4 T A 9: 121,583,035 (GRCm38) D105V probably damaging Het
Mst1 A G 9: 108,084,295 (GRCm38) I575V probably benign Het
Myh7 C A 14: 54,974,046 (GRCm38) E1555D probably damaging Het
Nwd1 T A 8: 72,667,811 (GRCm38) C608* probably null Het
Obox3 C A 7: 15,627,226 (GRCm38) C38F probably benign Het
P4ha2 A G 11: 54,126,248 (GRCm38) D441G probably benign Het
Pcdhb14 A T 18: 37,448,545 (GRCm38) I235F possibly damaging Het
Rasgrf2 A G 13: 92,030,788 (GRCm38) V259A probably damaging Het
Scn1a T C 2: 66,277,613 (GRCm38) T1590A probably damaging Het
Sdk1 T A 5: 142,051,244 (GRCm38) D817E probably damaging Het
Sema3b A G 9: 107,600,458 (GRCm38) F482S probably damaging Het
Slc35a5 G C 16: 45,158,158 (GRCm38) probably benign Het
Slc6a3 A G 13: 73,562,308 (GRCm38) I346V probably benign Het
Slu7 G T 11: 43,440,684 (GRCm38) probably null Het
Spns1 A T 7: 126,371,539 (GRCm38) probably null Het
Supv3l1 T C 10: 62,449,420 (GRCm38) D89G possibly damaging Het
Taf1c G A 8: 119,600,505 (GRCm38) R412W probably damaging Het
Tctn3 T A 19: 40,607,649 (GRCm38) T305S possibly damaging Het
Tekt1 A G 11: 72,345,748 (GRCm38) I296T possibly damaging Het
Tet2 T C 3: 133,486,055 (GRCm38) K873E possibly damaging Het
Thada G A 17: 84,441,782 (GRCm38) A587V possibly damaging Het
Tmprss15 T A 16: 78,985,996 (GRCm38) N712Y probably damaging Het
Tnks A G 8: 34,853,361 (GRCm38) S719P probably damaging Het
Tnrc6a A C 7: 123,181,384 (GRCm38) Q1332H probably damaging Het
Trpv3 A G 11: 73,283,734 (GRCm38) D309G possibly damaging Het
Tti2 A G 8: 31,153,519 (GRCm38) K221E possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Unc80 T C 1: 66,677,495 (GRCm38) C2925R probably benign Het
Vmn2r83 G A 10: 79,478,910 (GRCm38) G331R probably benign Het
Xirp2 G T 2: 67,511,422 (GRCm38) V1336F probably benign Het
Zbed5 T C 5: 129,902,277 (GRCm38) Y356H possibly damaging Het
Other mutations in Uba5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02238:Uba5 APN 9 104,054,060 (GRCm38) splice site probably benign
IGL02891:Uba5 APN 9 104,054,193 (GRCm38) splice site probably benign
IGL03182:Uba5 APN 9 104,054,129 (GRCm38) missense possibly damaging 0.78
3-1:Uba5 UTSW 9 104,060,392 (GRCm38) critical splice donor site probably null
PIT4810001:Uba5 UTSW 9 104,055,197 (GRCm38) missense probably damaging 1.00
R0033:Uba5 UTSW 9 104,054,148 (GRCm38) missense probably benign 0.01
R0033:Uba5 UTSW 9 104,054,148 (GRCm38) missense probably benign 0.01
R0745:Uba5 UTSW 9 104,049,511 (GRCm38) unclassified probably benign
R1018:Uba5 UTSW 9 104,049,903 (GRCm38) missense probably benign 0.00
R1163:Uba5 UTSW 9 104,055,826 (GRCm38) missense possibly damaging 0.70
R1771:Uba5 UTSW 9 104,049,908 (GRCm38) missense probably damaging 1.00
R2164:Uba5 UTSW 9 104,060,243 (GRCm38) missense probably damaging 1.00
R5072:Uba5 UTSW 9 104,054,427 (GRCm38) missense probably damaging 1.00
R5177:Uba5 UTSW 9 104,049,298 (GRCm38) missense probably benign
R5563:Uba5 UTSW 9 104,049,247 (GRCm38) missense probably benign 0.18
R6606:Uba5 UTSW 9 104,055,221 (GRCm38) missense probably damaging 1.00
R7258:Uba5 UTSW 9 104,062,933 (GRCm38) missense unknown
R7337:Uba5 UTSW 9 104,055,255 (GRCm38) missense possibly damaging 0.72
R9546:Uba5 UTSW 9 104,054,368 (GRCm38) missense probably damaging 0.99
R9547:Uba5 UTSW 9 104,054,368 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17