Incidental Mutation 'R9478:Sumo1'
ID 715905
Institutional Source Beutler Lab
Gene Symbol Sumo1
Ensembl Gene ENSMUSG00000026021
Gene Name small ubiquitin-like modifier 1
Synonyms SENTRIN, Ubl1, PIC1, Smt3C
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # R9478 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 59678593-59709993 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 59694615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000088935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091374] [ENSMUST00000091374] [ENSMUST00000185265]
AlphaFold P63166
Predicted Effect probably null
Transcript: ENSMUST00000091374
SMART Domains Protein: ENSMUSP00000088935
Gene: ENSMUSG00000026021

DomainStartEndE-ValueType
UBQ 22 93 1.1e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000091374
SMART Domains Protein: ENSMUSP00000088935
Gene: ENSMUSG00000026021

DomainStartEndE-ValueType
UBQ 22 93 1.1e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185265
SMART Domains Protein: ENSMUSP00000140729
Gene: ENSMUSG00000026021

DomainStartEndE-ValueType
UBQ 1 67 1.4e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Knockout mice are viable with no testis or palate defects. Homozygotes for one gene-trap allele are viable and overtly normal, although MEFs have fewer PML nuclear bodies. Closer analysis of mice derived from another gene-trap line verified normal viability and palatogenesis in heterozygotes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,451,573 (GRCm39) I886F possibly damaging Het
3100002H09Rik A G 4: 124,504,151 (GRCm39) S134P unknown Het
Abcf2 A G 5: 24,770,940 (GRCm39) L604P possibly damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg14 G T 14: 47,783,138 (GRCm39) H373Q probably damaging Het
Atmin C T 8: 117,681,537 (GRCm39) H179Y probably damaging Het
Catsperg1 G T 7: 28,897,777 (GRCm39) P197T possibly damaging Het
Ccdc7b C T 8: 129,837,473 (GRCm39) Q155* probably null Het
Cep85l T G 10: 53,224,875 (GRCm39) E238A possibly damaging Het
Cfap119 T C 7: 127,184,087 (GRCm39) probably null Het
Cntln G A 4: 84,897,630 (GRCm39) V406I probably benign Het
Csf2rb2 C A 15: 78,168,965 (GRCm39) G730V probably benign Het
Cyp3a59 T A 5: 146,034,997 (GRCm39) L225Q probably damaging Het
Dock1 T A 7: 134,367,962 (GRCm39) F511I probably damaging Het
Dsg1b A T 18: 20,531,008 (GRCm39) Y453F Het
Dync1h1 T C 12: 110,625,137 (GRCm39) F3829L probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Esco2 C A 14: 66,068,657 (GRCm39) G218* probably null Het
Gale C T 4: 135,692,574 (GRCm39) probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Hgf A G 5: 16,766,029 (GRCm39) D55G possibly damaging Het
Il17ra A G 6: 120,451,336 (GRCm39) D170G possibly damaging Het
Inha A G 1: 75,486,562 (GRCm39) S286G probably benign Het
Kif1b C T 4: 149,345,616 (GRCm39) probably null Het
Klhl24 T G 16: 19,941,763 (GRCm39) S570R possibly damaging Het
Krt87 G A 15: 101,385,449 (GRCm39) R308W probably benign Het
Lama2 T A 10: 26,891,478 (GRCm39) E2545V probably damaging Het
Lztfl1 T C 9: 123,537,167 (GRCm39) K165E possibly damaging Het
Mab21l3 A T 3: 101,725,987 (GRCm39) D336E probably damaging Het
Matn2 T C 15: 34,345,242 (GRCm39) I83T probably damaging Het
Mfsd9 T C 1: 40,812,941 (GRCm39) D458G probably benign Het
Ncbp3 A G 11: 72,968,768 (GRCm39) D513G probably damaging Het
Neb T A 2: 52,078,788 (GRCm39) K5818N probably benign Het
Nol4 G A 18: 23,053,934 (GRCm39) P120S probably damaging Het
Oit3 C A 10: 59,274,464 (GRCm39) C112F probably damaging Het
Or11g27 A T 14: 50,771,051 (GRCm39) T61S probably benign Het
Or4b1 C A 2: 89,979,595 (GRCm39) A252S possibly damaging Het
Or5p52 G A 7: 107,502,238 (GRCm39) V105M probably damaging Het
Or6c6 T A 10: 129,186,960 (GRCm39) M176K possibly damaging Het
Pank4 G A 4: 155,064,565 (GRCm39) R708Q probably benign Het
Plch1 T A 3: 63,606,825 (GRCm39) L1026F probably benign Het
Poglut3 T C 9: 53,303,236 (GRCm39) F232L probably damaging Het
Ptpn3 A T 4: 57,197,573 (GRCm39) I772N probably damaging Het
Purb A G 11: 6,425,424 (GRCm39) F155L probably damaging Het
Rcor2 C T 19: 7,248,794 (GRCm39) R256W probably damaging Het
Rp1 A G 1: 4,417,545 (GRCm39) L1189P probably benign Het
Scn1a T C 2: 66,156,493 (GRCm39) E472G probably benign Het
Sema3e T C 5: 14,286,386 (GRCm39) Y536H probably damaging Het
Serpina3n A T 12: 104,378,672 (GRCm39) I331F possibly damaging Het
Sertad3 T C 7: 27,175,679 (GRCm39) S38P probably damaging Het
Sfrp4 G T 13: 19,807,610 (GRCm39) R3L unknown Het
Slc35a5 T C 16: 44,964,426 (GRCm39) E269G probably damaging Het
Snrnp200 G A 2: 127,076,993 (GRCm39) probably null Het
Syne2 A G 12: 76,154,387 (GRCm39) K2020E probably damaging Het
Tcp10a A T 17: 7,601,740 (GRCm39) T247S probably benign Het
Tgds T C 14: 118,352,544 (GRCm39) D290G possibly damaging Het
Trav7d-3 A T 14: 52,982,054 (GRCm39) I32F possibly damaging Het
Vps41 A G 13: 19,046,913 (GRCm39) N788D Het
Zfp521 G A 18: 13,950,372 (GRCm39) T1194I probably damaging Het
Zmynd8 C A 2: 165,649,569 (GRCm39) K841N probably damaging Het
Other mutations in Sumo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4606:Sumo1 UTSW 1 59,683,668 (GRCm39) intron probably benign
R6186:Sumo1 UTSW 1 59,683,729 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCGTGTATTTCACTAATTCTGACC -3'
(R):5'- TCTGATGCAGAGTCTGTTACC -3'

Sequencing Primer
(F):5'- GCAGGTGGATCTCTATAGTTAACC -3'
(R):5'- CAGAGTCTGTTACCTGGGGGAAC -3'
Posted On 2022-06-15