Incidental Mutation 'R4239:Uba7'
ID 321271
Institutional Source Beutler Lab
Gene Symbol Uba7
Ensembl Gene ENSMUSG00000032596
Gene Name ubiquitin-like modifier activating enzyme 7
Synonyms Ube1l, 1300004C08Rik
MMRRC Submission 041056-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R4239 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 107852766-107861255 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 107854001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035216] [ENSMUST00000035216] [ENSMUST00000035216] [ENSMUST00000035216] [ENSMUST00000049348] [ENSMUST00000177392] [ENSMUST00000177392] [ENSMUST00000177392] [ENSMUST00000177392]
AlphaFold Q9DBK7
Predicted Effect probably null
Transcript: ENSMUST00000035216
SMART Domains Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596

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 null
Transcript: ENSMUST00000035216
SMART Domains Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596

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 null
Transcript: ENSMUST00000035216
SMART Domains Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596

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 null
Transcript: ENSMUST00000035216
SMART Domains Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596

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: ENSMUST00000049348
SMART Domains Protein: ENSMUSP00000040001
Gene: ENSMUSG00000032586

DomainStartEndE-ValueType
RING 7 49 6.68e-6 SMART
coiled coil region 70 278 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000075082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176478
Predicted Effect probably benign
Transcript: ENSMUST00000177039
Predicted Effect probably benign
Transcript: ENSMUST00000177039
Predicted Effect probably benign
Transcript: ENSMUST00000177039
Predicted Effect probably benign
Transcript: ENSMUST00000177039
Predicted Effect probably benign
Transcript: ENSMUST00000177392
SMART Domains Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596

DomainStartEndE-ValueType
Pfam:ThiF 22 153 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177392
SMART Domains Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596

DomainStartEndE-ValueType
Pfam:ThiF 22 153 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177392
SMART Domains Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596

DomainStartEndE-ValueType
Pfam:ThiF 22 153 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177392
SMART Domains Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596

DomainStartEndE-ValueType
Pfam:ThiF 22 153 1.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177096
Meta Mutation Damage Score 0.9502 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (55/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
Alpk2 T A 18: 65,433,212 (GRCm39) I1765F probably damaging Het
Ano5 T A 7: 51,237,414 (GRCm39) I696N probably damaging Het
Areg A T 5: 91,291,375 (GRCm39) N106I probably damaging Het
Atad2b A G 12: 5,035,710 (GRCm39) N759D probably benign Het
B4galnt4 T C 7: 140,641,239 (GRCm39) L18P probably damaging Het
Boc T C 16: 44,312,247 (GRCm39) D605G probably damaging Het
Cfap46 G T 7: 139,246,203 (GRCm39) Q387K possibly damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Clip2 A G 5: 134,564,051 (GRCm39) probably benign Het
Cog4 T C 8: 111,585,244 (GRCm39) I303T probably damaging Het
Col18a1 C T 10: 76,932,001 (GRCm39) V363I unknown Het
Crip3 A T 17: 46,742,156 (GRCm39) K184* probably null Het
Ddi1 A G 9: 6,265,799 (GRCm39) M190T probably benign Het
Dnah3 G A 7: 119,628,248 (GRCm39) Q1459* probably null Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Ehhadh T G 16: 21,581,438 (GRCm39) D518A probably damaging Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fbxl3 G A 14: 103,326,854 (GRCm39) S176L probably damaging Het
Gm1979 T C 5: 26,206,119 (GRCm39) T154A probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Gtf2h1 C T 7: 46,454,489 (GRCm39) A157V probably benign Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ifi214 A T 1: 173,352,509 (GRCm39) S307T possibly damaging Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Large2 A G 2: 92,196,950 (GRCm39) probably benign Het
Myo5c T C 9: 75,191,224 (GRCm39) I1086T probably benign Het
Nes C A 3: 87,886,666 (GRCm39) P1598T probably damaging Het
Or13a25 A G 7: 140,247,496 (GRCm39) N99D probably benign Het
Or51f1d T C 7: 102,701,003 (GRCm39) V166A probably benign Het
Or5g25 T A 2: 85,478,647 (GRCm39) Q6L probably damaging Het
Otud7a A G 7: 63,300,702 (GRCm39) D47G probably damaging Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Plcb1 A T 2: 135,186,078 (GRCm39) I682F probably damaging Het
Plcz1 T A 6: 139,986,344 (GRCm39) probably null Het
Prl7a1 T A 13: 27,821,549 (GRCm39) Q129L possibly damaging Het
Prrt4 T C 6: 29,170,163 (GRCm39) Y763C probably damaging Het
Psma7 T C 2: 179,681,304 (GRCm39) probably benign Het
Serpinb6b G C 13: 33,156,246 (GRCm39) C112S probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Slc35f5 G A 1: 125,500,211 (GRCm39) A242T possibly damaging Het
Speer4b T C 5: 27,706,311 (GRCm39) R19G probably benign Het
Trank1 A G 9: 111,196,103 (GRCm39) I1376V probably benign Het
Trbv12-2 A G 6: 41,095,831 (GRCm39) N12D probably benign Het
Upf3a A G 8: 13,846,591 (GRCm39) R324G probably benign Het
Usp46 T G 5: 74,192,928 (GRCm39) probably benign Het
Vmn2r14 T G 5: 109,364,277 (GRCm39) probably null Het
Wbp2 G A 11: 115,971,373 (GRCm39) probably benign Het
Wdpcp T A 11: 21,645,269 (GRCm39) N232K probably damaging Het
Wdpcp T A 11: 21,645,271 (GRCm39) M233K probably benign Het
Zfp157 A G 5: 138,445,803 (GRCm39) I53V 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
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
R5157:Uba7 UTSW 9 107,857,246 (GRCm39) missense probably benign 0.04
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'- ACCTGCTTTAGTGCACCCTG -3'
(R):5'- TGTCTGAGAAAATCACCAAGTCCC -3'

Sequencing Primer
(F):5'- AAGTCTCCACAGCTTTCCTATAATTC -3'
(R):5'- TCCCCATCGTGGAAGGAATGTC -3'
Posted On 2015-06-12