Incidental Mutation 'R5305:Sgta'
Institutional Source Beutler Lab
Gene Symbol Sgta
Ensembl Gene ENSMUSG00000004937
Gene Namesmall glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha
SynonymsD10Ertd190e, 5330427H01Rik, Sgt
MMRRC Submission 042888-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5305 (G1)
Quality Score225
Status Validated
Chromosomal Location81044075-81060181 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 81046247 bp
Amino Acid Change Glutamine to Leucine at position 298 (Q298L)
Ref Sequence ENSEMBL: ENSMUSP00000151949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005067] [ENSMUST00000218208] [ENSMUST00000219401] [ENSMUST00000220317]
Predicted Effect probably damaging
Transcript: ENSMUST00000005067
AA Change: Q299L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005067
Gene: ENSMUSG00000004937
AA Change: Q299L

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: Q298L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219297
Predicted Effect probably benign
Transcript: ENSMUST00000219401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220202
Predicted Effect probably benign
Transcript: ENSMUST00000220317
Meta Mutation Damage Score 0.2725 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (67/68)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G A 15: 82,059,219 V11M possibly damaging Het
Acot8 A G 2: 164,795,765 V179A probably benign Het
Actb A G 5: 142,904,230 I194T probably benign Het
Ap1g2 A G 14: 55,099,076 V787A probably benign Het
Areg G T 5: 91,144,449 A203S probably damaging Het
Asb13 A T 13: 3,643,479 D79V probably damaging Het
Atad2b C T 12: 4,965,855 T527I probably damaging Het
Auts2 T G 5: 131,443,794 probably benign Het
Ceacam3 T A 7: 17,151,576 S35T probably damaging Het
Crebzf T C 7: 90,444,134 probably benign Het
Cttnbp2 G T 6: 18,381,098 N1366K probably benign Het
Cubn C A 2: 13,388,939 C1417F probably damaging Het
Dot1l C T 10: 80,790,793 P162S probably benign Het
Epc1 G A 18: 6,490,690 probably benign Het
Eps8l1 A G 7: 4,477,896 S613G possibly damaging Het
Erich6 T G 3: 58,625,116 I357L probably benign Het
Foxj3 T A 4: 119,619,958 S288T possibly damaging Het
Gls2 T G 10: 128,204,709 Y326* probably null Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gm7535 T C 17: 17,911,799 probably benign Het
Gxylt2 T G 6: 100,787,218 L288R probably damaging Het
Kdm4a T C 4: 118,160,501 Y456C probably damaging Het
Mgat4c T A 10: 102,389,279 F451L possibly damaging Het
Mrpl20 G A 4: 155,803,705 R17H probably damaging Het
Mtf2 A G 5: 108,104,499 T465A possibly damaging Het
Mycbp2 A C 14: 103,346,321 L66R probably benign Het
Nos1ap T A 1: 170,349,399 K145M probably damaging Het
Nr2e1 A T 10: 42,571,487 Y176* probably null Het
Obscn T C 11: 59,012,715 T7628A possibly damaging Het
Olfr1353 A T 10: 78,970,556 K302N possibly damaging Het
Pitx2 T G 3: 129,215,840 V129G probably damaging Het
Polr2e A G 10: 80,038,063 probably benign Het
Ppard A G 17: 28,298,858 D300G probably damaging Het
Ppp1r27 A G 11: 120,550,917 V46A probably benign Het
Prex2 T A 1: 11,107,678 V332E probably damaging Het
Prss30 T G 17: 23,972,776 Y257S probably benign Het
Ptprd T C 4: 75,982,626 E1082G probably damaging Het
Rab3c T A 13: 110,181,077 R89S probably damaging Het
Rimbp2 A G 5: 128,797,381 V389A possibly damaging Het
Rims1 T A 1: 22,596,542 R119S probably damaging Het
Sema3b T C 9: 107,603,337 H137R probably null Het
Sf3b4 G C 3: 96,173,642 A89P probably damaging Het
Spag9 C A 11: 94,069,012 D342E probably damaging Het
Sry T A Y: 2,662,982 D226V unknown Het
Sv2a A G 3: 96,185,458 E158G possibly damaging Het
Sytl2 A G 7: 90,381,863 probably benign Het
Thbs3 T A 3: 89,217,976 probably benign Het
Top3a A T 11: 60,762,539 N56K possibly damaging Het
Ttc37 G A 13: 76,147,767 E1050K possibly damaging Het
Tyk2 T C 9: 21,109,381 D918G probably damaging Het
Uqcrh A G 4: 116,067,284 probably benign Het
Vmn1r61 A G 7: 5,610,815 S167P probably damaging Het
Wdr25 C A 12: 109,026,440 H74N probably damaging Het
Zfp458 T C 13: 67,256,318 N686D probably benign Het
Zfp574 T A 7: 25,081,090 H512Q probably damaging Het
Zfp976 A T 7: 42,613,478 Y312N probably benign Het
Zscan4c G A 7: 11,009,535 V354I probably benign Het
Other mutations in Sgta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02946:Sgta APN 10 81049778 splice site probably benign
R0194:Sgta UTSW 10 81051059 missense probably benign 0.00
R0595:Sgta UTSW 10 81048908 missense probably damaging 1.00
R1742:Sgta UTSW 10 81046277 missense probably damaging 1.00
R1858:Sgta UTSW 10 81048861 missense possibly damaging 0.50
R2015:Sgta UTSW 10 81051296 missense probably damaging 1.00
R2406:Sgta UTSW 10 81051247 missense possibly damaging 0.74
R5724:Sgta UTSW 10 81047688 splice site probably null
Z1176:Sgta UTSW 10 81046280 missense possibly damaging 0.55
Z1177:Sgta UTSW 10 81051084 missense possibly damaging 0.54
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-07-22