Incidental Mutation 'R5157:Uba7'
ID 396783
Institutional Source Beutler Lab
Gene Symbol Uba7
Ensembl Gene ENSMUSG00000032596
Gene Name ubiquitin-like modifier activating enzyme 7
Synonyms Ube1l, 1300004C08Rik
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5157 (G1)
Quality Score 190
Status Validated
Chromosome 9
Chromosomal Location 107852766-107861255 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107857246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 703 (V703I)
Ref Sequence ENSEMBL: ENSMUSP00000035216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035216] [ENSMUST00000048568] [ENSMUST00000175914] [ENSMUST00000177368] [ENSMUST00000177392]
AlphaFold Q9DBK7
Predicted Effect probably benign
Transcript: ENSMUST00000035216
AA Change: V703I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: V703I

DomainStartEndE-ValueType
Pfam:ThiF 6 401 1.2e-33 PFAM
Pfam:E1_FCCH 178 249 1.1e-26 PFAM
Pfam:E1_4HB 250 318 2.5e-22 PFAM
internal_repeat_1 402 510 8.05e-5 PROSPERO
Pfam:UBA_e1_thiolCys 592 808 1.3e-50 PFAM
UBA_e1_C 846 973 4.63e-65 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000048568
SMART Domains Protein: ENSMUSP00000040433
Gene: ENSMUSG00000042106

DomainStartEndE-ValueType
low complexity region 52 73 N/A INTRINSIC
Pfam:FAM212 146 201 1.7e-30 PFAM
low complexity region 228 237 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000075082
Predicted Effect probably benign
Transcript: ENSMUST00000175914
SMART Domains Protein: ENSMUSP00000134980
Gene: ENSMUSG00000042106

DomainStartEndE-ValueType
low complexity region 54 75 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177096
Predicted Effect probably benign
Transcript: ENSMUST00000177039
Predicted Effect probably benign
Transcript: ENSMUST00000177368
SMART Domains Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323

DomainStartEndE-ValueType
Blast:UBA_e1_C 1 39 1e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177494
Predicted Effect probably benign
Transcript: ENSMUST00000177392
SMART Domains Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596

DomainStartEndE-ValueType
Pfam:ThiF 22 153 1.2e-18 PFAM
Meta Mutation Damage Score 0.1975 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice lacking ISG15 conjugation but not free ISG15 are healthy and fertile and exhibit normal antiviral responses against vesicular stomatitis virus and lymphocytic choriomeningitis virus infection. Bone-derived macrophages from mutant mice display normal responses to IFN treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,096 (GRCm39) R1266C probably damaging Het
Adap2 T C 11: 80,047,772 (GRCm39) F76S probably damaging Het
Adgb T A 10: 10,274,710 (GRCm39) H747L probably damaging Het
Aox1 T A 1: 58,109,222 (GRCm39) V670D probably damaging Het
Ap4e1 A G 2: 126,903,615 (GRCm39) D839G probably benign Het
Arhgef11 T A 3: 87,635,817 (GRCm39) probably null Het
AY074887 T C 9: 54,858,102 (GRCm39) probably benign Het
Bicd1 C G 6: 149,421,912 (GRCm39) Q878E probably benign Het
Catspere1 A T 1: 177,707,348 (GRCm39) noncoding transcript Het
Cnmd T C 14: 79,894,126 (GRCm39) Q87R probably benign Het
Col24a1 G T 3: 145,051,712 (GRCm39) G661* probably null Het
Crtap G A 9: 114,213,860 (GRCm39) L232F probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Cyp2d26 T C 15: 82,675,190 (GRCm39) Q388R probably benign Het
Ddb1 A T 19: 10,599,728 (GRCm39) T646S probably benign Het
Dnah6 G T 6: 73,172,617 (GRCm39) S280R probably benign Het
Dzank1 T C 2: 144,325,332 (GRCm39) H545R probably damaging Het
Ehhadh T A 16: 21,585,261 (GRCm39) M207L probably benign Het
Elmo2 T A 2: 165,133,627 (GRCm39) probably benign Het
Golga3 G A 5: 110,350,537 (GRCm39) A731T probably benign Het
Igsf21 T C 4: 139,755,378 (GRCm39) T426A possibly damaging Het
Kcnf1 T C 12: 17,224,742 (GRCm39) E493G probably benign Het
Lmna A T 3: 88,391,414 (GRCm39) D364E probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Map3k20 A T 2: 72,268,558 (GRCm39) T522S probably benign Het
Mroh9 C A 1: 162,871,690 (GRCm39) A598S probably damaging Het
Msln T C 17: 25,971,957 (GRCm39) M87V probably benign Het
Or14c39 A G 7: 86,344,440 (GRCm39) K259E probably benign Het
Or1e26 T C 11: 73,480,549 (GRCm39) N5S probably damaging Het
Or4a27 T A 2: 88,559,892 (GRCm39) Q17L probably benign Het
Or5d16 T A 2: 87,773,232 (GRCm39) M247L probably benign Het
Pals1 T A 12: 78,867,589 (GRCm39) M324K possibly damaging Het
Plekhg5 T A 4: 152,192,322 (GRCm39) probably benign Het
Pprc1 G T 19: 46,053,197 (GRCm39) probably benign Het
Ptprm T A 17: 67,264,092 (GRCm39) K385I probably benign Het
Rfxap T A 3: 54,711,938 (GRCm39) N215I probably damaging Het
Slc16a7 A T 10: 125,069,333 (GRCm39) Y114* probably null Het
Smarcb1 G T 10: 75,747,628 (GRCm39) probably benign Het
Spef2 T A 15: 9,668,877 (GRCm39) R770* probably null Het
Stard9 A T 2: 120,528,342 (GRCm39) Y1533F probably benign Het
Tbcd A T 11: 121,500,853 (GRCm39) Y1142F probably benign Het
Trappc2b A T 11: 51,576,893 (GRCm39) S2T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Upb1 T C 10: 75,248,638 (GRCm39) S53P possibly damaging Het
Zfp672 A G 11: 58,207,677 (GRCm39) S215P possibly damaging Het
Zfp978 T A 4: 147,475,437 (GRCm39) L328H probably damaging Het
Other mutations in Uba7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Uba7 APN 9 107,856,310 (GRCm39) missense probably benign 0.31
IGL01696:Uba7 APN 9 107,854,547 (GRCm39) missense probably damaging 1.00
IGL02137:Uba7 APN 9 107,856,952 (GRCm39) splice site probably benign
IGL02272:Uba7 APN 9 107,853,352 (GRCm39) missense probably benign 0.01
IGL02287:Uba7 APN 9 107,855,426 (GRCm39) missense probably benign 0.10
IGL02430:Uba7 APN 9 107,856,667 (GRCm39) splice site probably benign
IGL02552:Uba7 APN 9 107,858,589 (GRCm39) missense probably benign 0.00
IGL02820:Uba7 APN 9 107,858,715 (GRCm39) missense probably benign 0.01
IGL03234:Uba7 APN 9 107,853,599 (GRCm39) missense probably damaging 0.97
R0013:Uba7 UTSW 9 107,855,448 (GRCm39) missense probably damaging 1.00
R0013:Uba7 UTSW 9 107,855,448 (GRCm39) missense probably damaging 1.00
R0717:Uba7 UTSW 9 107,854,416 (GRCm39) missense probably benign 0.44
R2108:Uba7 UTSW 9 107,856,487 (GRCm39) missense probably benign
R2253:Uba7 UTSW 9 107,853,563 (GRCm39) missense probably benign 0.26
R4239:Uba7 UTSW 9 107,854,001 (GRCm39) critical splice donor site probably null
R4528:Uba7 UTSW 9 107,861,102 (GRCm39) missense possibly damaging 0.79
R4735:Uba7 UTSW 9 107,854,115 (GRCm39) missense possibly damaging 0.94
R4736:Uba7 UTSW 9 107,857,364 (GRCm39) missense probably benign 0.00
R4751:Uba7 UTSW 9 107,857,004 (GRCm39) missense possibly damaging 0.66
R4937:Uba7 UTSW 9 107,856,190 (GRCm39) missense possibly damaging 0.95
R4999:Uba7 UTSW 9 107,857,038 (GRCm39) critical splice donor site probably null
R5020:Uba7 UTSW 9 107,856,113 (GRCm39) missense probably benign
R5214:Uba7 UTSW 9 107,854,713 (GRCm39) intron probably benign
R5339:Uba7 UTSW 9 107,856,065 (GRCm39) missense probably damaging 1.00
R5990:Uba7 UTSW 9 107,858,433 (GRCm39) missense probably damaging 0.96
R6092:Uba7 UTSW 9 107,860,359 (GRCm39) missense possibly damaging 0.96
R6110:Uba7 UTSW 9 107,856,138 (GRCm39) missense probably benign 0.25
R6363:Uba7 UTSW 9 107,857,382 (GRCm39) critical splice donor site probably null
R6495:Uba7 UTSW 9 107,854,213 (GRCm39) nonsense probably null
R6644:Uba7 UTSW 9 107,858,671 (GRCm39) missense possibly damaging 0.55
R7032:Uba7 UTSW 9 107,853,371 (GRCm39) missense possibly damaging 0.83
R7095:Uba7 UTSW 9 107,860,538 (GRCm39) missense probably benign 0.01
R7517:Uba7 UTSW 9 107,853,897 (GRCm39) splice site probably benign
R9083:Uba7 UTSW 9 107,855,166 (GRCm39) missense probably benign 0.00
R9227:Uba7 UTSW 9 107,853,001 (GRCm39) missense possibly damaging 0.60
R9484:Uba7 UTSW 9 107,861,037 (GRCm39) missense probably benign 0.00
X0024:Uba7 UTSW 9 107,853,144 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGAGTAGTGTCAGCAGACC -3'
(R):5'- ACAGGCTGAAGACCCATGTG -3'

Sequencing Primer
(F):5'- TCAGCAGACCTGAGTATCCTGAG -3'
(R):5'- CCATGTGGGGAAGGGGC -3'
Posted On 2016-06-21