Incidental Mutation 'IGL01875:Sumo3'
ID 178852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sumo3
Ensembl Gene ENSMUSG00000020265
Gene Name small ubiquitin-like modifier 3
Synonyms D10Ertd345e, Smt3h1, 2810014B19Rik, SMT3A
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01875
Quality Score
Status
Chromosome 10
Chromosomal Location 77441931-77454165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77449832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 57 (I57F)
Ref Sequence ENSEMBL: ENSMUSP00000097136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020501] [ENSMUST00000099538] [ENSMUST00000124024] [ENSMUST00000129492] [ENSMUST00000137841] [ENSMUST00000141228] [ENSMUST00000174113]
AlphaFold Q9Z172
Predicted Effect probably benign
Transcript: ENSMUST00000020501
AA Change: I57F

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020501
Gene: ENSMUSG00000020265
AA Change: I57F

DomainStartEndE-ValueType
UBQ 17 88 1.07e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099538
AA Change: I57F

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097136
Gene: ENSMUSG00000020265
AA Change: I57F

DomainStartEndE-ValueType
UBQ 17 88 1.07e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124024
Predicted Effect probably benign
Transcript: ENSMUST00000129492
AA Change: I60F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000134416
Gene: ENSMUSG00000020265
AA Change: I60F

DomainStartEndE-ValueType
UBQ 20 91 1.07e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137841
AA Change: I57F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133308
Gene: ENSMUSG00000020265
AA Change: I57F

DomainStartEndE-ValueType
UBQ 17 79 1.6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141228
AA Change: I57F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133466
Gene: ENSMUSG00000020265
AA Change: I57F

DomainStartEndE-ValueType
UBQ 17 90 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173691
Predicted Effect probably benign
Transcript: ENSMUST00000174113
AA Change: I57F

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000134357
Gene: ENSMUSG00000112241
AA Change: I57F

DomainStartEndE-ValueType
UBQ 17 74 4.07e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174295
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the small ubiquitin-like modifier family. The encoded protein may regulate a variety of proteins in many pathways via a post-translational modification, known as SUMOylation. This activity may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Disruption of some of these processes has been associated with cerebral ischemia, neural dysfunction, and heart disease. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile and exhibit no phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,663,682 (GRCm39) T287A probably damaging Het
Afm G T 5: 90,696,742 (GRCm39) probably benign Het
Ankrd24 A G 10: 81,465,571 (GRCm39) probably benign Het
Ankrd53 G T 6: 83,740,031 (GRCm39) E62* probably null Het
Atg4b A G 1: 93,706,032 (GRCm39) S162G probably damaging Het
B530045E10Rik A T 10: 99,258,177 (GRCm39) noncoding transcript Het
Ccng1 A G 11: 40,643,183 (GRCm39) V88A probably benign Het
Ces1e T A 8: 93,950,524 (GRCm39) M86L probably benign Het
Chrne A T 11: 70,509,498 (GRCm39) probably null Het
Ctsh T C 9: 89,946,260 (GRCm39) S109P probably damaging Het
Eif4g1 A C 16: 20,499,790 (GRCm39) I420L probably damaging Het
Ep300 T A 15: 81,524,224 (GRCm39) S1351T unknown Het
Fgfr1 A G 8: 26,063,569 (GRCm39) M732V possibly damaging Het
Gata5 T G 2: 179,969,138 (GRCm39) probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm3633 A T 14: 42,461,234 (GRCm39) M18K probably damaging Het
Gucy1b2 A G 14: 62,657,595 (GRCm39) L211P probably damaging Het
Hemgn T C 4: 46,396,994 (GRCm39) N81D possibly damaging Het
Irs2 A T 8: 11,056,221 (GRCm39) M737K probably damaging Het
Itgb7 C A 15: 102,126,430 (GRCm39) C502F probably damaging Het
Jakmip1 G T 5: 37,278,324 (GRCm39) A534S probably damaging Het
Kidins220 A G 12: 25,107,728 (GRCm39) H1636R probably benign Het
Kirrel1 T A 3: 87,003,037 (GRCm39) I119F probably damaging Het
Lrba T C 3: 86,217,354 (GRCm39) V527A probably damaging Het
Mitf A G 6: 97,994,856 (GRCm39) E409G probably benign Het
Mtrr T G 13: 68,720,728 (GRCm39) K289T probably damaging Het
Muc2 A T 7: 141,306,477 (GRCm39) I739F probably damaging Het
Ncor2 T C 5: 125,142,934 (GRCm39) T612A unknown Het
Or12e7 T A 2: 87,287,654 (GRCm39) N48K probably damaging Het
Or1x2 A T 11: 50,918,202 (GRCm39) R124S probably damaging Het
Or6c213 T A 10: 129,574,791 (GRCm39) probably benign Het
Or8b42 T A 9: 38,341,594 (GRCm39) N5K probably damaging Het
P4ha3 T A 7: 99,949,859 (GRCm39) C109S probably damaging Het
Prkd3 T C 17: 79,264,635 (GRCm39) E660G possibly damaging Het
Rbm4b G A 19: 4,812,219 (GRCm39) M209I probably benign Het
Reln T A 5: 22,109,715 (GRCm39) T3132S probably benign Het
Selenbp2 T A 3: 94,605,451 (GRCm39) D92E possibly damaging Het
Slfn8 G T 11: 82,894,905 (GRCm39) Q634K probably benign Het
Tacr1 A G 6: 82,533,997 (GRCm39) Y341C probably benign Het
Tlr4 T A 4: 66,757,726 (GRCm39) L173Q probably damaging Het
Tshz3 C T 7: 36,469,385 (GRCm39) T458M probably damaging Het
Vmn1r91 T A 7: 19,835,859 (GRCm39) C259* probably null Het
Vmn2r16 T C 5: 109,478,277 (GRCm39) F11L probably benign Het
Vmn2r28 T A 7: 5,484,302 (GRCm39) M633L probably benign Het
Vmn2r35 T C 7: 7,819,772 (GRCm39) probably benign Het
Vwc2l G T 1: 70,768,172 (GRCm39) A79S probably benign Het
Zfhx2 G A 14: 55,301,372 (GRCm39) S2204F unknown Het
Other mutations in Sumo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Sumo3 APN 10 77,449,860 (GRCm39) missense probably damaging 1.00
R6235:Sumo3 UTSW 10 77,452,071 (GRCm39) intron probably benign
R6552:Sumo3 UTSW 10 77,442,091 (GRCm39) start gained probably benign
R9716:Sumo3 UTSW 10 77,442,792 (GRCm39) missense unknown
Posted On 2014-05-07