Incidental Mutation 'IGL02946:Sgta'
ID364759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgta
Ensembl Gene ENSMUSG00000004937
Gene Namesmall glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha
SynonymsD10Ertd190e, 5330427H01Rik, Sgt
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02946
Quality Score
Status
Chromosome10
Chromosomal Location81044075-81060181 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 81049778 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005067] [ENSMUST00000218208] [ENSMUST00000219401] [ENSMUST00000220317]
Predicted Effect probably benign
Transcript: ENSMUST00000005067
SMART Domains Protein: ENSMUSP00000005067
Gene: ENSMUSG00000004937

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 benign
Transcript: ENSMUST00000218208
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
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 110,028,215 probably benign Het
Actr3b T C 5: 25,848,483 I270T possibly damaging Het
Adgrf2 T C 17: 42,710,493 Y480C probably damaging Het
Arhgap27 T C 11: 103,338,348 T514A probably damaging Het
BC031181 C T 18: 75,008,665 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ccm2 G A 11: 6,596,195 R335H probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Crabp1 T C 9: 54,764,948 F16S possibly damaging Het
Crmp1 C T 5: 37,284,080 A502V probably damaging Het
Ehhadh A T 16: 21,762,922 V440D probably damaging Het
Fam129a A T 1: 151,649,425 I194F probably damaging Het
Galnt3 T A 2: 66,095,218 I392L probably damaging Het
Gm12689 T A 4: 99,296,253 N114K unknown Het
Hspa2 A G 12: 76,405,173 T214A probably damaging Het
Itga7 T C 10: 128,934,083 I32T probably benign Het
Itgal A G 7: 127,314,368 S682G probably damaging Het
Kctd1 C T 18: 14,973,979 probably null Het
Lrp1b T A 2: 41,312,559 D439V probably damaging Het
Mdn1 A G 4: 32,734,366 K3258E probably damaging Het
Mgat4c T C 10: 102,389,253 S443P probably benign Het
Mylk G A 16: 34,921,788 G890E probably benign Het
Mylk2 T A 2: 152,919,210 L446* probably null Het
Olfr1395 T G 11: 49,148,892 F212V probably damaging Het
Pi4k2b T C 5: 52,753,207 F278L probably damaging Het
Pitpnm3 A G 11: 72,092,552 S84P probably benign Het
Plxna2 T C 1: 194,749,309 probably benign Het
Prr5l C A 2: 101,772,184 probably null Het
Ptprs T C 17: 56,424,032 T719A probably benign Het
Rasa3 T C 8: 13,598,280 H128R probably benign Het
Rhox13 A G X: 38,129,775 K205E probably damaging Het
Rif1 C A 2: 52,110,125 S1197* probably null Het
Slc25a5 T A X: 36,797,853 M239K probably damaging Het
Stil T A 4: 115,029,913 H734Q probably benign Het
Stk32b T C 5: 37,531,539 probably benign Het
Ubr4 T G 4: 139,425,295 F1999C probably damaging Het
Wfdc2 A C 2: 164,564,089 T86P probably benign Het
Zfp407 T C 18: 84,560,709 S760G probably damaging Het
Zfp668 A T 7: 127,866,518 L498Q possibly damaging Het
Other mutations in Sgta
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5305:Sgta UTSW 10 81046247 missense probably damaging 0.99
R5724:Sgta UTSW 10 81047688 splice site probably null
Posted On2015-12-18