Incidental Mutation 'IGL02891:Uba5'
ID363199
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 #IGL02891
Quality Score
Status
Chromosome9
Chromosomal Location104046599-104063134 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 104054193 bp
ZygosityHeterozygous
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

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik C T 3: 108,464,392 R672Q probably benign Het
Abca17 A G 17: 24,281,366 S1284P probably damaging Het
Adgrf1 T C 17: 43,311,161 V763A probably damaging Het
Adhfe1 T A 1: 9,558,171 M256K probably benign Het
Chit1 A G 1: 134,145,310 S125G probably benign Het
Clu T A 14: 65,975,984 F273Y probably damaging Het
Dgki T C 6: 36,913,741 D869G probably benign Het
Emx1 T C 6: 85,204,085 probably benign Het
Ercc2 T G 7: 19,393,286 F316C probably damaging Het
Fam81a A G 9: 70,110,276 L129P probably damaging Het
Fat4 T A 3: 38,951,273 N1940K probably damaging Het
Fbxl13 G A 5: 21,522,100 probably benign Het
Kcnt2 T A 1: 140,574,806 D879E probably damaging Het
Kti12 T G 4: 108,848,533 S215A probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Ntn5 G T 7: 45,686,224 L26F probably damaging Het
Nwd2 A G 5: 63,725,227 N74S possibly damaging Het
Olfr109 T A 17: 37,466,944 V246E probably damaging Het
Olfr709-ps1 A G 7: 106,927,081 V126A probably damaging Het
Phactr4 T C 4: 132,387,023 D20G probably damaging Het
Ptpn23 G A 9: 110,388,020 Q923* probably null Het
Rfx6 T A 10: 51,723,846 S333T possibly damaging Het
Skint10 T A 4: 112,728,826 I198F probably benign Het
Spata5 T A 3: 37,426,192 V130D probably damaging Het
Taf3 G A 2: 9,921,227 P647L probably damaging Het
Tbcb T C 7: 30,233,434 probably benign Het
Tmem63c T C 12: 87,071,268 F216L probably benign Het
Ttc30b C T 2: 75,937,060 V450M possibly damaging Het
Usp34 C A 11: 23,487,166 Q217K probably benign Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r99 G A 17: 19,378,690 W212* probably null Het
Zfp687 G T 3: 95,011,946 P172T probably damaging Het
Other mutations in Uba5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02238:Uba5 APN 9 104054060 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 On2015-12-18