Incidental Mutation 'R9484:Uba7'
ID 716451
Institutional Source Beutler Lab
Gene Symbol Uba7
Ensembl Gene ENSMUSG00000032596
Gene Name ubiquitin-like modifier activating enzyme 7
Synonyms Ube1l, 1300004C08Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R9484 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107852766-107861255 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 107861037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 942 (H942Q)
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: H942Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
AA Change: H942Q

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 probably benign
Transcript: ENSMUST00000175914
SMART Domains Protein: ENSMUSP00000134980
Gene: ENSMUSG00000042106

DomainStartEndE-ValueType
low complexity region 54 75 N/A INTRINSIC
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 probably benign
Transcript: ENSMUST00000177392
SMART Domains Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596

DomainStartEndE-ValueType
Pfam:ThiF 22 153 1.2e-18 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.1%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,250,845 (GRCm39) C151S probably damaging Het
Actr8 T C 14: 29,708,301 (GRCm39) I193T probably benign Het
Btbd2 T C 10: 80,480,103 (GRCm39) N419S probably benign Het
Cacna2d1 T A 5: 16,561,831 (GRCm39) W821R probably damaging Het
Cadps2 T C 6: 23,626,646 (GRCm39) Y214C probably benign Het
Calu T A 6: 29,366,162 (GRCm39) L180Q probably damaging Het
Corin C T 5: 72,497,280 (GRCm39) V615I probably damaging Het
Cyp8b1 A T 9: 121,744,983 (GRCm39) D116E probably benign Het
D630036H23Rik C A 12: 36,431,711 (GRCm39) A96S unknown Het
Ddx24 A T 12: 103,377,555 (GRCm39) Y717N probably damaging Het
Dmap1 G T 4: 117,533,308 (GRCm39) Q249K probably benign Het
Dnah10 T A 5: 124,900,508 (GRCm39) W3922R probably damaging Het
Dnah14 T C 1: 181,517,773 (GRCm39) F2036L probably benign Het
Dnah14 T C 1: 181,625,311 (GRCm39) I4064T probably benign Het
Dock9 A C 14: 121,818,844 (GRCm39) V1546G probably damaging Het
Eif1ad4 A T 12: 87,862,249 (GRCm39) Q37L possibly damaging Het
Eif3a A T 19: 60,755,006 (GRCm39) S1059T unknown Het
Ep300 A G 15: 81,521,026 (GRCm39) E1262G unknown Het
Evl T A 12: 108,652,716 (GRCm39) I387N probably damaging Het
Fat2 A C 11: 55,200,752 (GRCm39) V774G probably damaging Het
Fez1 T A 9: 36,755,093 (GRCm39) Y31N probably benign Het
Fkbp10 A G 11: 100,313,960 (GRCm39) I435V probably damaging Het
Flnb A G 14: 7,929,004 (GRCm38) D1911G probably benign Het
Fnbp1 T C 2: 30,973,038 (GRCm39) Y154C probably benign Het
Fndc10 T C 4: 155,779,496 (GRCm39) I180T possibly damaging Het
Frmd4a G A 2: 4,609,026 (GRCm39) V965I possibly damaging Het
Gabrr2 A G 4: 33,071,352 (GRCm39) H64R possibly damaging Het
Glis3 T C 19: 28,508,403 (GRCm39) D527G probably damaging Het
H2-Ob T A 17: 34,459,989 (GRCm39) F33L probably damaging Het
Hbb-bh1 C T 7: 103,492,239 (GRCm39) E27K probably benign Het
Ifnb1 T A 4: 88,440,915 (GRCm39) T33S probably benign Het
Igkv4-80 T A 6: 68,993,766 (GRCm39) T42S probably damaging Het
Irs2 C T 8: 11,057,334 (GRCm39) G366D probably damaging Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Krtap5-3 T A 7: 141,756,068 (GRCm39) C302S unknown Het
Lgi1 A G 19: 38,294,757 (GRCm39) K510E probably benign Het
Lgi2 T A 5: 52,695,936 (GRCm39) D341V probably benign Het
Lin7c T C 2: 109,724,813 (GRCm39) I14T probably benign Het
Lrrc19 A T 4: 94,531,573 (GRCm39) M13K probably benign Het
Lrrc69 T C 4: 14,666,012 (GRCm39) I315M probably benign Het
Mtcl3 G A 10: 29,072,969 (GRCm39) D754N probably damaging Het
Myo5c A T 9: 75,204,770 (GRCm39) D1541V probably damaging Het
Mypn T G 10: 63,003,019 (GRCm39) M373L probably benign Het
Nckipsd C A 9: 108,689,837 (GRCm39) H333N probably damaging Het
Nrg2 A T 18: 36,157,401 (GRCm39) L428Q probably null Het
Or13a20 T C 7: 140,231,904 (GRCm39) L4S probably benign Het
Or2b28 C A 13: 21,531,587 (GRCm39) T163K probably damaging Het
Or5an11 T C 19: 12,245,735 (GRCm39) I47T possibly damaging Het
Otogl T A 10: 107,657,894 (GRCm39) probably null Het
Otogl C T 10: 107,737,156 (GRCm39) G86D probably damaging Het
Papln A T 12: 83,838,618 (GRCm39) Q1249L probably benign Het
Plxna2 G T 1: 194,327,202 (GRCm39) G379C probably damaging Het
Pofut2 T C 10: 77,095,260 (GRCm39) I35T probably benign Het
Pros1 A G 16: 62,744,887 (GRCm39) T501A possibly damaging Het
Rapgef1 T C 2: 29,625,821 (GRCm39) S1042P possibly damaging Het
Rps6kb1 C T 11: 86,408,443 (GRCm39) E185K probably damaging Het
Slc13a2 A T 11: 78,294,233 (GRCm39) L216Q probably damaging Het
Slc22a14 T C 9: 119,009,615 (GRCm39) Y160C probably damaging Het
Slc22a4 T A 11: 53,879,773 (GRCm39) I429F possibly damaging Het
Slc26a3 A G 12: 31,511,785 (GRCm39) K457E probably damaging Het
Slc47a2 T C 11: 61,227,060 (GRCm39) I169M possibly damaging Het
Slco1a1 C T 6: 141,854,672 (GRCm39) V660I probably benign Het
Smyd1 A G 6: 71,202,450 (GRCm39) Y252H probably damaging Het
Spp2 A T 1: 88,334,695 (GRCm39) probably benign Het
Stra8 T A 6: 34,911,121 (GRCm39) W250R probably damaging Het
Syne1 A C 10: 5,170,359 (GRCm39) L5183R probably damaging Het
Tdrd9 T C 12: 112,012,684 (GRCm39) S1203P probably damaging Het
Th C A 7: 142,453,620 (GRCm39) E27* probably null Het
Thada C A 17: 84,736,619 (GRCm39) L887F probably damaging Het
Timm23 T C 14: 31,902,586 (GRCm39) T186A probably benign Het
Tmem132b A T 5: 125,860,420 (GRCm39) E555V probably damaging Het
Tnik A T 3: 28,649,093 (GRCm39) Q457L unknown Het
Upf2 T C 2: 5,966,078 (GRCm39) S233P unknown Het
Urm1 T A 2: 29,732,760 (GRCm39) N72K probably damaging Het
Usp10 T C 8: 120,675,504 (GRCm39) S508P possibly damaging Het
Usp37 G A 1: 74,499,081 (GRCm39) P632S probably damaging Het
Wdr77 T A 3: 105,872,404 (GRCm39) N209K probably benign Het
Zbtb24 C T 10: 41,327,429 (GRCm39) T105M probably benign Het
Zfp341 T A 2: 154,485,763 (GRCm39) I671N probably damaging Het
Zfp414 A G 17: 33,848,984 (GRCm39) T73A probably benign Het
Zfp574 A T 7: 24,781,404 (GRCm39) I809F possibly damaging Het
Zfp62 T C 11: 49,108,108 (GRCm39) I733T probably damaging Het
Zfp719 A G 7: 43,239,581 (GRCm39) I390V possibly 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
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
X0024:Uba7 UTSW 9 107,853,144 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGCTGCTCCTAAAATAGTTTC -3'
(R):5'- TTGTGCCTTCCGTCAACAAG -3'

Sequencing Primer
(F):5'- GCTGCTCCTAAAATAGTTTCAGATG -3'
(R):5'- CTGCTGTGAGCTGAAGATGTAG -3'
Posted On 2022-07-18