Incidental Mutation 'IGL02881:Sae1'
ID 362798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sae1
Ensembl Gene ENSMUSG00000052833
Gene Name SUMO1 activating enzyme subunit 1
Synonyms HSPC140, D7Ertd177e, Uble1a, 2610044L12Rik, AOS1, 2400010M20Rik, SUMO-1 activating enzyme subunit 1
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL02881
Quality Score
Chromosome 7
Chromosomal Location 16320234-16387806 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 16359118 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 221 (K221N)
Ref Sequence ENSEMBL: ENSMUSP00000147771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094815] [ENSMUST00000210999] [ENSMUST00000211741]
AlphaFold Q9R1T2
Predicted Effect probably damaging
Transcript: ENSMUST00000094815
AA Change: K221N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092409
Gene: ENSMUSG00000052833
AA Change: K221N

low complexity region 3 21 N/A INTRINSIC
Pfam:ThiF 23 344 4.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209749
Predicted Effect probably damaging
Transcript: ENSMUST00000210999
AA Change: K221N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000211741
AA Change: K221N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C A 8: 13,555,999 (GRCm38) probably benign Het
Aatf A G 11: 84,471,289 (GRCm38) probably benign Het
Asap3 A T 4: 136,239,237 (GRCm38) H542L probably benign Het
Cyp4v3 A T 8: 45,308,716 (GRCm38) L389H probably damaging Het
Dnah17 C T 11: 118,042,118 (GRCm38) E3605K probably damaging Het
Fry C T 5: 150,359,051 (GRCm38) T347M probably damaging Het
Glul C A 1: 153,907,116 (GRCm38) T191K probably benign Het
Gm6614 T C 6: 141,972,243 (GRCm38) R636G probably benign Het
Grsf1 A T 5: 88,673,830 (GRCm38) L125Q probably damaging Het
Hfm1 A G 5: 106,874,252 (GRCm38) I976T probably damaging Het
Itgb5 A G 16: 33,919,905 (GRCm38) T462A probably benign Het
Lmna G T 3: 88,502,926 (GRCm38) R60S possibly damaging Het
Mrpl10 T A 11: 97,047,073 (GRCm38) V89D probably damaging Het
Muc5b C T 7: 141,857,712 (GRCm38) T1465I unknown Het
Myh15 A C 16: 49,117,265 (GRCm38) D743A possibly damaging Het
Noxo1 C A 17: 24,699,435 (GRCm38) L190I probably damaging Het
Noxo1 T A 17: 24,699,436 (GRCm38) L190Q probably damaging Het
Nrn1 C A 13: 36,730,106 (GRCm38) probably null Het
Olfr1025-ps1 A G 2: 85,918,116 (GRCm38) S64G probably benign Het
Olfr1098 A G 2: 86,922,713 (GRCm38) V273A possibly damaging Het
Olfr1226 T A 2: 89,193,641 (GRCm38) Y131F probably damaging Het
Olfr170 A T 16: 19,606,300 (GRCm38) Y123N probably damaging Het
Pfkfb4 A G 9: 109,007,296 (GRCm38) T131A probably null Het
Phf20l1 T C 15: 66,594,980 (GRCm38) probably null Het
Pnliprp2 A G 19: 58,771,446 (GRCm38) D363G probably benign Het
Prpf6 C T 2: 181,632,071 (GRCm38) T336I probably benign Het
Rcc1 C T 4: 132,337,756 (GRCm38) R139H probably benign Het
Slc45a1 T C 4: 150,638,530 (GRCm38) K299R probably benign Het
Smad2 C A 18: 76,299,780 (GRCm38) probably null Het
Tmem117 T C 15: 94,879,425 (GRCm38) F152S probably damaging Het
Tmem232 C T 17: 65,450,370 (GRCm38) C276Y probably damaging Het
Tor1b A T 2: 30,953,853 (GRCm38) K47* probably null Het
Ttn A G 2: 76,909,803 (GRCm38) V3464A probably benign Het
Ube3b A G 5: 114,412,884 (GRCm38) T870A possibly damaging Het
Zscan25 T G 5: 145,290,486 (GRCm38) L320R probably benign Het
Other mutations in Sae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02206:Sae1 APN 7 16,330,656 (GRCm38) missense possibly damaging 0.94
IGL02672:Sae1 APN 7 16,370,348 (GRCm38) missense probably damaging 1.00
R0255:Sae1 UTSW 7 16,370,322 (GRCm38) nonsense probably null
R0667:Sae1 UTSW 7 16,368,532 (GRCm38) missense probably damaging 1.00
R1374:Sae1 UTSW 7 16,378,408 (GRCm38) missense probably damaging 0.97
R1585:Sae1 UTSW 7 16,330,612 (GRCm38) critical splice donor site probably null
R1960:Sae1 UTSW 7 16,368,565 (GRCm38) missense possibly damaging 0.90
R2278:Sae1 UTSW 7 16,370,366 (GRCm38) missense probably damaging 1.00
R5513:Sae1 UTSW 7 16,366,856 (GRCm38) missense probably benign 0.00
R5677:Sae1 UTSW 7 16,370,462 (GRCm38) critical splice acceptor site probably null
R6694:Sae1 UTSW 7 16,368,536 (GRCm38) missense probably damaging 1.00
R6975:Sae1 UTSW 7 16,336,787 (GRCm38) missense probably damaging 0.99
R7307:Sae1 UTSW 7 16,368,544 (GRCm38) nonsense probably null
R7914:Sae1 UTSW 7 16,387,723 (GRCm38) missense unknown
R8437:Sae1 UTSW 7 16,370,354 (GRCm38) missense probably damaging 1.00
R9076:Sae1 UTSW 7 16,336,743 (GRCm38) missense probably benign
Z1177:Sae1 UTSW 7 16,327,871 (GRCm38) missense probably damaging 1.00
Posted On 2015-12-18