Incidental Mutation 'R6657:Sugt1'
ID 526681
Institutional Source Beutler Lab
Gene Symbol Sugt1
Ensembl Gene ENSMUSG00000022024
Gene Name SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)
Synonyms SGT1, 2410174K12Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R6657 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 79587691-79635196 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79607261 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 139 (T139S)
Ref Sequence ENSEMBL: ENSMUSP00000052942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054908]
AlphaFold Q9CX34
Predicted Effect probably benign
Transcript: ENSMUST00000054908
AA Change: T139S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052942
Gene: ENSMUSG00000022024
AA Change: T139S

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T G 8: 105,708,818 L36R probably damaging Het
Akr1b3 C T 6: 34,310,004 V206M possibly damaging Het
Akr1b7 A C 6: 34,416,200 D106A probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 254 probably null Het
Chst5 C T 8: 111,890,274 R238Q probably benign Het
Cpxm2 T C 7: 132,049,077 Y618C probably damaging Het
Csnk1d T C 11: 120,964,994 E405G possibly damaging Het
Ctsh A T 9: 90,060,502 M37L probably benign Het
Eml5 T G 12: 98,791,405 I1843L probably damaging Het
Ep400 C A 5: 110,693,545 probably benign Het
Fbln2 A G 6: 91,259,750 N749S possibly damaging Het
Gpc5 A G 14: 115,370,198 H404R probably benign Het
Hyal6 A G 6: 24,734,758 D230G possibly damaging Het
Itga5 T C 15: 103,350,795 D735G probably damaging Het
Kansl2 T A 15: 98,524,670 Q339L possibly damaging Het
Lrp4 T A 2: 91,492,053 M1078K probably benign Het
Mmp24 A T 2: 155,798,179 Y143F probably damaging Het
Mroh7 A T 4: 106,702,500 C743* probably null Het
Myh14 T C 7: 44,637,846 N618D probably damaging Het
Myo19 A T 11: 84,897,196 M324L probably benign Het
Nectin2 T C 7: 19,738,140 N108S probably benign Het
Nrg2 A G 18: 36,196,589 I191T probably damaging Het
Odf4 T C 11: 68,926,812 N18D probably benign Het
Olfr1109 T A 2: 87,093,059 I113F probably benign Het
Pcsk2 T G 2: 143,690,366 L145V probably damaging Het
Pdzrn3 C A 6: 101,151,022 Q894H probably benign Het
Pfpl G A 19: 12,429,926 V514I probably benign Het
Plbd1 A T 6: 136,617,252 M333K probably damaging Het
Plec A T 15: 76,178,156 M2554K possibly damaging Het
Psmb5 A G 14: 54,614,383 Y115H possibly damaging Het
Rictor A G 15: 6,759,496 N198D possibly damaging Het
Rsrc2 A G 5: 123,739,567 probably benign Het
Sec16a C T 2: 26,425,864 W262* probably null Het
Sfmbt1 A G 14: 30,766,096 D8G possibly damaging Het
Sptbn5 T G 2: 120,076,400 probably benign Het
Sqor A G 2: 122,807,594 D139G possibly damaging Het
Tcp11 G A 17: 28,071,672 P159S probably damaging Het
Tmem262 A G 19: 6,080,512 T89A possibly damaging Het
Tnfaip6 C A 2: 52,043,783 T50N probably damaging Het
Ttll9 T C 2: 152,984,262 Y131H probably damaging Het
Vmn1r173 T A 7: 23,702,895 M185K probably damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Vmn2r52 G A 7: 10,159,163 T683I probably damaging Het
Vps53 A T 11: 76,134,427 I197N probably damaging Het
Washc4 T A 10: 83,558,618 F269L possibly damaging Het
Wdfy4 C T 14: 33,047,251 V2086M possibly damaging Het
Zfp592 A T 7: 81,025,486 T733S possibly damaging Het
Zfp599 A G 9: 22,250,242 F209S probably damaging Het
Other mutations in Sugt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Sugt1 APN 14 79596790 missense probably benign 0.01
IGL02071:Sugt1 APN 14 79610283 nonsense probably null
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
R6967:Sugt1 UTSW 14 79597407 missense probably benign 0.25
R7429:Sugt1 UTSW 14 79619801 critical splice donor site probably null
R7430:Sugt1 UTSW 14 79619801 critical splice donor site probably null
R9027:Sugt1 UTSW 14 79587715 start gained probably benign
R9072:Sugt1 UTSW 14 79628853 missense possibly damaging 0.64
R9073:Sugt1 UTSW 14 79628853 missense possibly damaging 0.64
R9384:Sugt1 UTSW 14 79628948 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCTCCTGCTTGGAAAAGC -3'
(R):5'- ACCAAGCTAAGCAAGTTTAGAGATG -3'

Sequencing Primer
(F):5'- CTTGGAAAAGCAGGCTGCC -3'
(R):5'- GCAAGTTTAGAGATGACATTGATGTG -3'
Posted On 2018-07-23