Incidental Mutation 'IGL02238:Uba5'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uba5
Ensembl Gene ENSMUSG00000032557
Gene Nameubiquitin-like modifier activating enzyme 5
SynonymsUbe1dc1, 5730525G14Rik
Accession Numbers

Genbank: NM_025692; MGI: 1913913

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02238
Quality Score
Chromosomal Location104046599-104063134 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 104054060 bp
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000035166] [ENSMUST00000140768] [ENSMUST00000144195]
Predicted Effect probably benign
Transcript: ENSMUST00000035166
SMART Domains Protein: ENSMUSP00000035166
Gene: ENSMUSG00000032557

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 120,396,606 I1322N probably benign Het
Adamts1 A T 16: 85,795,825 M565K probably benign Het
Akr1b7 T A 6: 34,415,398 Y49N probably damaging Het
Cacna2d2 T A 9: 107,513,558 V363E probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh10 C T 15: 19,013,519 T735I probably damaging Het
Cds1 T A 5: 101,814,436 C306S possibly damaging Het
Clasp2 T C 9: 113,880,020 C644R probably damaging Het
Coil T C 11: 88,981,754 S314P probably benign Het
D630045J12Rik T A 6: 38,196,394 M280L probably benign Het
Dmxl2 C T 9: 54,445,433 V795M probably damaging Het
Dock10 A G 1: 80,533,793 V1533A probably damaging Het
Fbxo40 T C 16: 36,969,174 N525D possibly damaging Het
Fezf2 T C 14: 12,344,494 E231G probably damaging Het
Fmn1 T C 2: 113,582,125 V870A possibly damaging Het
Ifi44 A G 3: 151,732,382 *423Q probably null Het
Invs T C 4: 48,390,029 V173A probably damaging Het
Krt88 A G 15: 101,452,605 probably benign Het
Mctp2 A T 7: 72,090,205 Y812* probably null Het
Neto2 T C 8: 85,669,663 I118V probably damaging Het
Nutm2 T G 13: 50,471,039 M264R probably damaging Het
Olfr52 T C 2: 86,181,595 probably null Het
Olfr715 A G 7: 107,129,037 S119P probably damaging Het
Pcnx G A 12: 81,917,914 R285Q probably damaging Het
Pi16 G T 17: 29,326,295 K177N probably damaging Het
Pigg C T 5: 108,318,928 S225F possibly damaging Het
Prrc2b T A 2: 32,213,417 V969E probably damaging Het
Rab4b A C 7: 27,172,729 Y189D probably benign Het
Ran A G 5: 129,022,182 N143D possibly damaging Het
Rfc4 A T 16: 23,114,469 F286L probably damaging Het
Sel1l2 T C 2: 140,247,939 Y418C probably damaging Het
Slc13a1 T C 6: 24,103,483 I354V probably benign Het
Slc7a2 A T 8: 40,908,156 T386S probably benign Het
Tm2d2 G T 8: 25,022,771 V212F probably benign Het
Tmem247 A T 17: 86,918,293 N54Y probably damaging Het
Txnrd3 T A 6: 89,656,135 Y206N probably benign Het
Vmn2r54 A G 7: 12,635,983 L51P probably damaging Het
Wdr66 T C 5: 123,302,423 Y1091H probably damaging Het
Zfp735 A G 11: 73,710,493 K88E probably benign Het
Other mutations in Uba5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02891:Uba5 APN 9 104054193 splice site probably benign
IGL03182:Uba5 APN 9 104054129 missense possibly damaging 0.78
3-1:Uba5 UTSW 9 104060392 critical splice donor site probably null
PIT4810001:Uba5 UTSW 9 104055197 missense probably damaging 1.00
R0033:Uba5 UTSW 9 104054148 missense probably benign 0.01
R0033:Uba5 UTSW 9 104054148 missense probably benign 0.01
R0745:Uba5 UTSW 9 104049511 unclassified probably benign
R1018:Uba5 UTSW 9 104049903 missense probably benign 0.00
R1163:Uba5 UTSW 9 104055826 missense possibly damaging 0.70
R1771:Uba5 UTSW 9 104049908 missense probably damaging 1.00
R2164:Uba5 UTSW 9 104060243 missense probably damaging 1.00
R3916:Uba5 UTSW 9 104054190 missense probably damaging 1.00
R5072:Uba5 UTSW 9 104054427 missense probably damaging 1.00
R5177:Uba5 UTSW 9 104049298 missense probably benign
R5563:Uba5 UTSW 9 104049247 missense probably benign 0.18
R6606:Uba5 UTSW 9 104055221 missense probably damaging 1.00
R7258:Uba5 UTSW 9 104062933 missense unknown
R7337:Uba5 UTSW 9 104055255 missense possibly damaging 0.72
Posted On2015-04-16