Incidental Mutation 'IGL02071:Sugt1'
ID185806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sugt1
Ensembl Gene ENSMUSG00000022024
Gene NameSGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)
SynonymsSGT1, 2410174K12Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02071
Quality Score
Status
Chromosome14
Chromosomal Location79587691-79635196 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 79610283 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 191 (L191*)
Ref Sequence ENSEMBL: ENSMUSP00000052942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054908]
Predicted Effect probably null
Transcript: ENSMUST00000054908
AA Change: L191*
SMART Domains Protein: ENSMUSP00000052942
Gene: ENSMUSG00000022024
AA Change: L191*

DomainStartEndE-ValueType
Pfam:TPR_11 18 76 6.9e-14 PFAM
Pfam:TPR_9 24 53 7.1e-3 PFAM
Pfam:TPR_17 33 66 6.1e-7 PFAM
Pfam:TPR_1 45 78 1.2e-7 PFAM
Pfam:TPR_2 45 78 1.2e-6 PFAM
Pfam:TPR_8 45 78 2.3e-4 PFAM
Blast:TPR 80 112 1e-11 BLAST
Pfam:CS 143 219 5.9e-24 PFAM
Pfam:SGS 256 336 1.5e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228675
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene have been defined on several different chromosomes. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null embryos die prior to E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,582,812 R92C probably damaging Het
Adam29 C A 8: 55,871,554 V622L possibly damaging Het
Bzw2 T C 12: 36,107,503 H321R probably benign Het
C2cd2 C T 16: 97,870,232 R489Q probably damaging Het
Ccdc129 C A 6: 55,967,725 S477* probably null Het
Cdh23 G A 10: 60,523,560 T253I possibly damaging Het
Col4a3 T G 1: 82,660,887 probably null Het
D630039A03Rik T C 4: 57,910,309 T168A possibly damaging Het
Dnajc19 A G 3: 34,078,765 L97P possibly damaging Het
Dpep2 A T 8: 105,985,144 H550Q probably benign Het
Dvl2 C A 11: 70,004,800 probably null Het
Fam234b A G 6: 135,227,151 probably null Het
Fxyd5 A G 7: 31,040,188 V32A possibly damaging Het
Mak16 A T 8: 31,160,529 S251T probably benign Het
Med10 T C 13: 69,815,628 V116A probably benign Het
Mycbp2 G A 14: 103,154,907 R50* probably null Het
Nckap5 G A 1: 125,981,568 P272L probably damaging Het
Nf1 T A 11: 79,444,121 V933E possibly damaging Het
Nrxn2 T A 19: 6,481,753 V749E probably damaging Het
Olfr1042 C A 2: 86,159,875 R165L probably benign Het
Olfr78 A C 7: 102,742,148 V285G probably damaging Het
Osbpl9 T C 4: 109,071,979 Y417C probably damaging Het
Otop1 G A 5: 38,287,983 A162T probably damaging Het
Patl1 C A 19: 11,939,690 P634T probably damaging Het
Ppl A T 16: 5,113,072 S28T probably benign Het
Prkar2b C T 12: 31,963,017 G367R probably damaging Het
Rbl2 G A 8: 91,102,198 V576I probably damaging Het
Rgl3 C T 9: 21,988,263 A53T probably benign Het
Rp1 T A 1: 4,345,310 I1860F possibly damaging Het
Sbno2 A T 10: 80,060,641 D877E probably damaging Het
Sectm1b C T 11: 121,055,935 V45I probably damaging Het
Sfmbt2 G A 2: 10,577,952 V741I probably benign Het
Tcf21 A T 10: 22,817,810 V156E possibly damaging Het
Tep1 T A 14: 50,834,049 R2046S possibly damaging Het
Tmem181a T C 17: 6,297,256 F241S probably damaging Het
Traf6 G A 2: 101,696,793 C296Y probably benign Het
Trim40 A G 17: 36,889,178 S3P probably benign Het
Ttll2 A T 17: 7,351,731 Y266N probably damaging Het
Vps54 A G 11: 21,275,071 N177S probably null Het
Other mutations in Sugt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Sugt1 APN 14 79596790 missense probably benign 0.01
IGL02417:Sugt1 APN 14 79610258 missense probably benign 0.00
IGL03205:Sugt1 APN 14 79596801 missense probably damaging 1.00
R0680:Sugt1 UTSW 14 79610311 missense possibly damaging 0.86
R1506:Sugt1 UTSW 14 79624925 missense probably benign 0.21
R1636:Sugt1 UTSW 14 79587982 missense probably benign
R1863:Sugt1 UTSW 14 79608994 missense probably damaging 1.00
R5253:Sugt1 UTSW 14 79602901 critical splice donor site probably null
R5870:Sugt1 UTSW 14 79609011 missense probably benign 0.11
R6370:Sugt1 UTSW 14 79610334 missense probably benign 0.14
R6657:Sugt1 UTSW 14 79607261 missense probably benign
R6967:Sugt1 UTSW 14 79597407 missense probably benign 0.25
Posted On2014-05-07