Incidental Mutation 'IGL02206:Sae1'
ID 284482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sae1
Ensembl Gene ENSMUSG00000052833
Gene Name SUMO1 activating enzyme subunit 1
Synonyms 2400010M20Rik, SUMO-1 activating enzyme subunit 1, HSPC140, AOS1, Uble1a, 2610044L12Rik, D7Ertd177e
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL02206
Quality Score
Chromosome 7
Chromosomal Location 16054159-16121731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16064581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 306 (V306E)
Ref Sequence ENSEMBL: ENSMUSP00000147771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094815] [ENSMUST00000210999] [ENSMUST00000211741]
AlphaFold Q9R1T2
Predicted Effect possibly damaging
Transcript: ENSMUST00000094815
AA Change: V306E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092409
Gene: ENSMUSG00000052833
AA Change: V306E

low complexity region 3 21 N/A INTRINSIC
Pfam:ThiF 23 344 4.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209749
Predicted Effect possibly damaging
Transcript: ENSMUST00000210999
AA Change: V306E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211741
AA Change: V306E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,151,573 (GRCm39) K824* probably null Het
Acot12 A G 13: 91,908,106 (GRCm39) D96G probably damaging Het
Acvr2b C T 9: 119,257,064 (GRCm39) Q98* probably null Het
Aldh8a1 T C 10: 21,271,474 (GRCm39) V400A probably benign Het
Aox1 C A 1: 58,104,499 (GRCm39) H559N probably benign Het
Arhgef18 T A 8: 3,495,034 (GRCm39) I431N probably benign Het
Atad5 A G 11: 79,985,009 (GRCm39) D32G probably damaging Het
Cgas T C 9: 78,350,362 (GRCm39) probably null Het
Cmtm8 T C 9: 114,672,967 (GRCm39) H10R probably benign Het
Cnn1 T G 9: 22,015,674 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Defb23 C A 2: 152,306,455 (GRCm39) E20* probably null Het
Dennd2a A T 6: 39,500,383 (GRCm39) S61T probably damaging Het
Fam13a A T 6: 58,964,204 (GRCm39) I76K probably benign Het
Fgd5 A G 6: 91,964,239 (GRCm39) probably benign Het
Flt4 A T 11: 49,521,217 (GRCm39) R409W probably damaging Het
Gramd1b T C 9: 40,211,328 (GRCm39) T652A probably benign Het
Grik1 C T 16: 87,732,808 (GRCm39) G703D probably damaging Het
Impg2 A G 16: 56,079,960 (GRCm39) E479G possibly damaging Het
Itpr1 A G 6: 108,526,781 (GRCm39) N2743S probably damaging Het
Klc1 A G 12: 111,744,550 (GRCm39) probably benign Het
Ndufa9 G A 6: 126,821,366 (GRCm39) R75* probably null Het
Neurl4 A G 11: 69,801,166 (GRCm39) N1181S probably damaging Het
Or5an9 T C 19: 12,187,824 (GRCm39) I298T probably damaging Het
Phf1 A G 17: 27,155,843 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,376,245 (GRCm39) I969T probably benign Het
Pprc1 G A 19: 46,060,190 (GRCm39) R1538Q probably damaging Het
Rasd1 C T 11: 59,854,778 (GRCm39) G234D possibly damaging Het
Rnf152 T C 1: 105,212,549 (GRCm39) T3A probably benign Het
Rrh C T 3: 129,605,346 (GRCm39) V115I probably benign Het
Rundc3a G T 11: 102,290,460 (GRCm39) E217* probably null Het
Serpinb7 T C 1: 107,363,102 (GRCm39) S89P possibly damaging Het
Serpinb9h A G 13: 33,588,182 (GRCm39) T256A probably damaging Het
Sgo2b T A 8: 64,394,118 (GRCm39) T74S possibly damaging Het
Slc5a7 T C 17: 54,604,022 (GRCm39) D48G probably damaging Het
Stn1 T C 19: 47,504,612 (GRCm39) M177V possibly damaging Het
Tgm1 T C 14: 55,942,392 (GRCm39) E653G possibly damaging Het
Thsd4 T C 9: 60,301,398 (GRCm39) K299R probably benign Het
Ttc22 A G 4: 106,493,186 (GRCm39) T278A probably damaging Het
Ubl4b G T 3: 107,462,141 (GRCm39) Q40K possibly damaging Het
Zfp677 A G 17: 21,613,499 (GRCm39) D31G probably damaging Het
Other mutations in Sae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02672:Sae1 APN 7 16,104,273 (GRCm39) missense probably damaging 1.00
IGL02881:Sae1 APN 7 16,093,043 (GRCm39) missense probably damaging 1.00
R0255:Sae1 UTSW 7 16,104,247 (GRCm39) nonsense probably null
R0667:Sae1 UTSW 7 16,102,457 (GRCm39) missense probably damaging 1.00
R1374:Sae1 UTSW 7 16,112,333 (GRCm39) missense probably damaging 0.97
R1585:Sae1 UTSW 7 16,064,537 (GRCm39) critical splice donor site probably null
R1960:Sae1 UTSW 7 16,102,490 (GRCm39) missense possibly damaging 0.90
R2278:Sae1 UTSW 7 16,104,291 (GRCm39) missense probably damaging 1.00
R5513:Sae1 UTSW 7 16,100,781 (GRCm39) missense probably benign 0.00
R5677:Sae1 UTSW 7 16,104,387 (GRCm39) critical splice acceptor site probably null
R6694:Sae1 UTSW 7 16,102,461 (GRCm39) missense probably damaging 1.00
R6975:Sae1 UTSW 7 16,070,712 (GRCm39) missense probably damaging 0.99
R7307:Sae1 UTSW 7 16,102,469 (GRCm39) nonsense probably null
R7914:Sae1 UTSW 7 16,121,648 (GRCm39) missense unknown
R8437:Sae1 UTSW 7 16,104,279 (GRCm39) missense probably damaging 1.00
R9076:Sae1 UTSW 7 16,070,668 (GRCm39) missense probably benign
Z1177:Sae1 UTSW 7 16,061,796 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16