Incidental Mutation 'R0667:Sae1'
ID 218545
Institutional Source Beutler Lab
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
MMRRC Submission 038852-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R0667 (G1)
Quality Score 56
Status Validated
Chromosome 7
Chromosomal Location 16054159-16121731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16102457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 172 (N172K)
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: N172K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092409
Gene: ENSMUSG00000052833
AA Change: N172K

DomainStartEndE-ValueType
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: N172K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211741
AA Change: N172K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5164 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G T 11: 110,218,637 (GRCm39) N76K probably benign Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Atad2 A G 15: 57,962,115 (GRCm39) S1143P probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Cand1 A G 10: 119,052,425 (GRCm39) S234P probably benign Het
Cd200 T A 16: 45,215,220 (GRCm39) I144L probably benign Het
Cep76 A T 18: 67,767,848 (GRCm39) L228Q possibly damaging Het
Col12a1 A G 9: 79,535,744 (GRCm39) L2584S probably damaging Het
Col6a3 A C 1: 90,755,823 (GRCm39) D155E probably damaging Het
Col6a4 G A 9: 105,907,158 (GRCm39) probably benign Het
Dsg2 A C 18: 20,706,556 (GRCm39) D24A possibly damaging Het
Gm5901 G A 7: 105,026,697 (GRCm39) S155N possibly damaging Het
Hkdc1 T C 10: 62,247,644 (GRCm39) probably benign Het
Kansl1 A G 11: 104,234,364 (GRCm39) V714A probably benign Het
Kcnh1 T A 1: 192,188,346 (GRCm39) S936T probably benign Het
Klhdc3 A T 17: 46,988,151 (GRCm39) F205I probably benign Het
Krt31 T A 11: 99,938,951 (GRCm39) H290L probably benign Het
Lama2 T A 10: 27,220,406 (GRCm39) probably null Het
Mep1a T G 17: 43,789,081 (GRCm39) D565A probably benign Het
Mgme1 T A 2: 144,120,907 (GRCm39) probably benign Het
Mtf2 C T 5: 108,252,369 (GRCm39) T409I probably damaging Het
Mylk3 A G 8: 86,081,794 (GRCm39) probably null Het
Myo1c A G 11: 75,559,338 (GRCm39) E650G probably damaging Het
Nipbl A C 15: 8,390,488 (GRCm39) D260E possibly damaging Het
Nufip2 T A 11: 77,582,839 (GRCm39) V251D possibly damaging Het
Or2n1e C A 17: 38,586,048 (GRCm39) P129T probably damaging Het
Or4a2 T C 2: 89,248,032 (GRCm39) I242V probably benign Het
Or7g35 T A 9: 19,496,743 (GRCm39) N303K probably benign Het
Osm G T 11: 4,189,918 (GRCm39) R234L possibly damaging Het
Pabpc1 G A 15: 36,598,275 (GRCm39) A515V probably benign Het
Piwil1 T A 5: 128,818,542 (GRCm39) probably null Het
Pld1 A G 3: 28,133,327 (GRCm39) probably null Het
Plekhg3 C T 12: 76,623,372 (GRCm39) R871C probably damaging Het
Ppfia2 A T 10: 106,749,555 (GRCm39) Y1147F probably damaging Het
Prmt3 A G 7: 49,441,743 (GRCm39) Y240C probably damaging Het
Prr36 G T 8: 4,266,311 (GRCm39) probably benign Het
Ptprd A G 4: 75,875,583 (GRCm39) I908T probably damaging Het
Satb1 T G 17: 52,089,889 (GRCm39) Q319H probably damaging Het
Scart2 C G 7: 139,841,450 (GRCm39) S251R possibly damaging Het
Scn2a A T 2: 65,582,340 (GRCm39) I1563F possibly damaging Het
Scn3a C A 2: 65,314,755 (GRCm39) R1102L probably null Het
Serpinb9b T A 13: 33,216,909 (GRCm39) L60* probably null Het
Setd1a A G 7: 127,385,765 (GRCm39) D281G probably damaging Het
Slc8a1 C A 17: 81,956,310 (GRCm39) V243F probably damaging Het
Tgfbr3 A T 5: 107,325,716 (GRCm39) H115Q probably benign Het
Tiam1 C A 16: 89,694,872 (GRCm39) S195I probably damaging Het
Tjp2 A G 19: 24,086,113 (GRCm39) V803A probably benign Het
Ttc5 T A 14: 51,003,415 (GRCm39) Q423L probably benign Het
Tyk2 A C 9: 21,020,167 (GRCm39) V997G probably damaging Het
Uhrf1 T C 17: 56,617,677 (GRCm39) V133A probably benign Het
Vmn2r107 A C 17: 20,575,916 (GRCm39) Y82S possibly damaging Het
Vmn2r93 T C 17: 18,546,503 (GRCm39) F792L probably damaging Het
Vps13c G A 9: 67,858,855 (GRCm39) W2768* probably null Het
Zfp456 A T 13: 67,514,861 (GRCm39) C282S probably benign Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly damaging Het
Zmynd15 G T 11: 70,355,944 (GRCm39) G481C probably damaging Het
Other mutations in Sae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02206:Sae1 APN 7 16,064,581 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- TTGACACCACTGCCTCCAAAGATG -3'
(R):5'- ACAGTTTGCAGCTCTTAGCAGTCAC -3'

Sequencing Primer
(F):5'- agtaggcagaggtaggtgg -3'
(R):5'- AGCTCTTAGCAGTCACTTCCTG -3'
Posted On 2014-08-18