Incidental Mutation 'R0595:Sgta'
ID 55074
Institutional Source Beutler Lab
Gene Symbol Sgta
Ensembl Gene ENSMUSG00000004937
Gene Name small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha
Synonyms 5330427H01Rik, Sgt, D10Ertd190e
MMRRC Submission 038785-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0595 (G1)
Quality Score 219
Status Validated
Chromosome 10
Chromosomal Location 80879909-80896015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80884742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 189 (D189G)
Ref Sequence ENSEMBL: ENSMUSP00000151345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005067] [ENSMUST00000218208] [ENSMUST00000219401] [ENSMUST00000220317]
AlphaFold Q8BJU0
Predicted Effect probably damaging
Transcript: ENSMUST00000005067
AA Change: D190G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005067
Gene: ENSMUSG00000004937
AA Change: D190G

DomainStartEndE-ValueType
Pfam:SGTA_dimer 3 64 2.5e-23 PFAM
TPR 92 125 1.49e-3 SMART
TPR 126 159 1.27e-6 SMART
TPR 160 193 1.06e-8 SMART
Blast:STI1 218 264 5e-16 BLAST
low complexity region 276 288 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000218208
AA Change: D189G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219297
Predicted Effect probably damaging
Transcript: ENSMUST00000219401
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220202
Predicted Effect probably benign
Transcript: ENSMUST00000220317
Meta Mutation Damage Score 0.8635 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased neonatal death, subfertility, decreased body size, increased brain, intestine and heart weight, decreased serum insulin-like growth factor I level, large penis, and increased testis descent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,790,417 (GRCm39) D1093E probably damaging Het
Aldh2 G T 5: 121,711,563 (GRCm39) A276D probably damaging Het
Aldh2 C T 5: 121,711,564 (GRCm39) A276T probably damaging Het
Aldh7a1 C T 18: 56,679,965 (GRCm39) probably benign Het
Ano1 C T 7: 144,143,890 (GRCm39) R964H possibly damaging Het
Apob G A 12: 8,058,369 (GRCm39) V2251I probably benign Het
Atp6v1e1 A G 6: 120,778,091 (GRCm39) V148A probably benign Het
Bbs9 T A 9: 22,408,111 (GRCm39) H73Q probably benign Het
Brca1 A G 11: 101,415,713 (GRCm39) V807A probably benign Het
Cacna1b C T 2: 24,540,001 (GRCm39) probably benign Het
Cadps2 A T 6: 23,321,703 (GRCm39) probably null Het
Cep152 T C 2: 125,436,983 (GRCm39) Q519R probably damaging Het
Cep295 A C 9: 15,243,487 (GRCm39) Y1608* probably null Het
Cfap54 T C 10: 92,720,598 (GRCm39) I2619V unknown Het
Dnajb9 A G 12: 44,255,067 (GRCm39) V7A probably benign Het
Ep400 T C 5: 110,851,408 (GRCm39) K1358R unknown Het
Fbxw7 C A 3: 84,884,674 (GRCm39) probably null Het
Fsip2 T C 2: 82,777,296 (GRCm39) Y108H probably damaging Het
Ggt6 T A 11: 72,328,493 (GRCm39) L331Q probably damaging Het
Ifitm1 T A 7: 140,548,242 (GRCm39) I25N possibly damaging Het
Krt75 C T 15: 101,476,789 (GRCm39) E367K probably damaging Het
Lifr A G 15: 7,206,950 (GRCm39) Y487C probably damaging Het
Map3k6 G T 4: 132,968,574 (GRCm39) G59W probably damaging Het
Mme A G 3: 63,235,602 (GRCm39) T129A probably benign Het
Mmp10 G A 9: 7,508,199 (GRCm39) E442K probably benign Het
Myh13 T C 11: 67,235,672 (GRCm39) S646P probably benign Het
Nbea A T 3: 55,535,917 (GRCm39) I2889N probably benign Het
Nlrp4d T A 7: 10,114,972 (GRCm39) K581N probably benign Het
Nr3c2 C T 8: 77,636,233 (GRCm39) P445S possibly damaging Het
Or5p63 A T 7: 107,810,868 (GRCm39) N289K probably damaging Het
Pck1 T A 2: 172,998,822 (GRCm39) V360E probably damaging Het
Plekha7 T C 7: 115,744,203 (GRCm39) D766G probably damaging Het
Prag1 A G 8: 36,614,156 (GRCm39) N1236S probably damaging Het
Prkdc A C 16: 15,625,952 (GRCm39) Q3326P probably damaging Het
Prrc2b T C 2: 32,073,189 (GRCm39) M57T probably damaging Het
Rb1 A T 14: 73,511,120 (GRCm39) F330I probably damaging Het
Rufy4 A G 1: 74,180,089 (GRCm39) E448G possibly damaging Het
Scn10a T A 9: 119,495,129 (GRCm39) M371L probably benign Het
Spata31d1b A G 13: 59,864,091 (GRCm39) H413R probably benign Het
Stau2 T C 1: 16,510,674 (GRCm39) T95A probably damaging Het
Supt4a C T 11: 87,633,982 (GRCm39) probably null Het
Tanc2 A G 11: 105,605,003 (GRCm39) probably null Het
Tap2 T A 17: 34,431,328 (GRCm39) V422D probably damaging Het
Tas2r138 A G 6: 40,589,799 (GRCm39) L149P probably damaging Het
Tex15 T C 8: 34,062,645 (GRCm39) S692P probably damaging Het
Tgm2 C T 2: 157,984,962 (GRCm39) R48H probably damaging Het
Ticrr T A 7: 79,345,311 (GRCm39) F1725L possibly damaging Het
Tnpo2 T A 8: 85,778,670 (GRCm39) C672* probably null Het
Xkr9 A G 1: 13,771,008 (GRCm39) I175V probably benign Het
Zfp428 T A 7: 24,214,803 (GRCm39) S140T probably benign Het
Other mutations in Sgta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02946:Sgta APN 10 80,885,612 (GRCm39) splice site probably benign
R0194:Sgta UTSW 10 80,886,893 (GRCm39) missense probably benign 0.00
R1742:Sgta UTSW 10 80,882,111 (GRCm39) missense probably damaging 1.00
R1858:Sgta UTSW 10 80,884,695 (GRCm39) missense possibly damaging 0.50
R2015:Sgta UTSW 10 80,887,130 (GRCm39) missense probably damaging 1.00
R2406:Sgta UTSW 10 80,887,081 (GRCm39) missense possibly damaging 0.74
R5305:Sgta UTSW 10 80,882,081 (GRCm39) missense probably damaging 0.99
R5724:Sgta UTSW 10 80,883,522 (GRCm39) splice site probably null
R9746:Sgta UTSW 10 80,887,118 (GRCm39) missense possibly damaging 0.52
Z1176:Sgta UTSW 10 80,882,114 (GRCm39) missense possibly damaging 0.55
Z1177:Sgta UTSW 10 80,886,918 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- AGCATTAGCCTCTGAGCGTCATCC -3'
(R):5'- GATCTATTGTGGGCCACACTGTGTC -3'

Sequencing Primer
(F):5'- TCCTGAGAAATGGGCTCACAG -3'
(R):5'- ACTGTGTCCTCAGACCTGTG -3'
Posted On 2013-07-11