Incidental Mutation 'R0044:Sgtb'
ID 32904
Institutional Source Beutler Lab
Gene Symbol Sgtb
Ensembl Gene ENSMUSG00000042743
Gene Name small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta
Synonyms C630001O05Rik
MMRRC Submission 038338-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.667) question?
Stock # R0044 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 13
Chromosomal Location 104246249-104278243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104265768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 93 (T93A)
Ref Sequence ENSEMBL: ENSMUSP00000124895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044385] [ENSMUST00000159574] [ENSMUST00000160322]
AlphaFold Q8VD33
Predicted Effect probably benign
Transcript: ENSMUST00000044385
AA Change: T136A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
AA Change: T136A

DomainStartEndE-ValueType
Pfam:SGTA_dimer 3 64 2.4e-19 PFAM
TPR 85 118 9.45e-6 SMART
TPR 119 152 1.01e-5 SMART
TPR 153 186 3.21e-8 SMART
Blast:STI1 213 254 5e-9 BLAST
low complexity region 266 279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159574
AA Change: T93A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743
AA Change: T93A

DomainStartEndE-ValueType
TPR 42 75 9.45e-6 SMART
TPR 76 109 1.01e-5 SMART
TPR 110 143 3.21e-8 SMART
Blast:STI1 170 207 5e-9 BLAST
low complexity region 223 236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160322
AA Change: T136A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125569
Gene: ENSMUSG00000042743
AA Change: T136A

DomainStartEndE-ValueType
PDB:4GOF|B 5 54 4e-11 PDB
Pfam:TPR_11 83 150 5e-23 PFAM
Pfam:TPR_1 85 118 1e-8 PFAM
Pfam:TPR_2 85 118 2.1e-8 PFAM
Pfam:TPR_7 92 120 1.3e-4 PFAM
Pfam:TPR_9 93 157 2.2e-5 PFAM
Pfam:TPR_17 107 140 7.2e-8 PFAM
Pfam:TPR_1 119 152 6.5e-9 PFAM
Pfam:TPR_2 119 152 3.4e-5 PFAM
Pfam:TPR_11 131 176 2.6e-8 PFAM
Pfam:TPR_1 153 176 1.1e-4 PFAM
Meta Mutation Damage Score 0.0583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 100% (77/77)
Allele List at MGI

All alleles(7) : Targeted(3) Gene trapped(4)

Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A C 9: 107,219,698 (GRCm39) R50S probably damaging Het
Actn2 G T 13: 12,290,013 (GRCm39) T176N possibly damaging Het
Adamts7 T C 9: 90,053,641 (GRCm39) V62A possibly damaging Het
Adcy2 A G 13: 68,876,018 (GRCm39) S495P possibly damaging Het
Agbl3 A T 6: 34,776,834 (GRCm39) M447L probably damaging Het
Asxl1 C T 2: 153,242,129 (GRCm39) T893I probably benign Het
Atp11b T A 3: 35,866,401 (GRCm39) I400N probably damaging Het
Bpifb2 C T 2: 153,724,599 (GRCm39) probably benign Het
Capn1 T A 19: 6,064,373 (GRCm39) Y42F probably benign Het
Cdk5rap2 A T 4: 70,279,138 (GRCm39) L190H probably damaging Het
Cfap54 T C 10: 92,871,295 (GRCm39) I594V probably null Het
Cpsf1 A G 15: 76,483,753 (GRCm39) V830A probably benign Het
Cyp2c70 T A 19: 40,153,815 (GRCm39) N258I possibly damaging Het
Dctn1 T G 6: 83,168,116 (GRCm39) Y386D probably damaging Het
Degs2 T C 12: 108,658,413 (GRCm39) N189D probably damaging Het
Dido1 C T 2: 180,303,612 (GRCm39) A1431T probably damaging Het
Diras1 G T 10: 80,857,972 (GRCm39) S93* probably null Het
E130308A19Rik T A 4: 59,690,290 (GRCm39) H41Q possibly damaging Het
Ebf2 C T 14: 67,548,417 (GRCm39) probably benign Het
Fcho2 A G 13: 98,892,052 (GRCm39) probably benign Het
Gbe1 T A 16: 70,358,020 (GRCm39) Y681* probably null Het
Gm10036 A C 18: 15,965,873 (GRCm39) K8T probably benign Het
Herc1 T A 9: 66,355,457 (GRCm39) M2236K probably benign Het
Hmcn2 A T 2: 31,302,520 (GRCm39) Y2948F probably damaging Het
Jakmip2 A T 18: 43,715,170 (GRCm39) C119S probably benign Het
Kif1b A G 4: 149,348,058 (GRCm39) probably benign Het
Kif6 T C 17: 50,139,284 (GRCm39) probably benign Het
Lpin1 A T 12: 16,618,530 (GRCm39) probably benign Het
Lrp2 T C 2: 69,357,899 (GRCm39) I377V probably benign Het
Mavs C A 2: 131,083,944 (GRCm39) T147N probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Mreg T G 1: 72,201,534 (GRCm39) T153P probably damaging Het
Naglu T C 11: 100,962,043 (GRCm39) I172T probably damaging Het
Odad4 A T 11: 100,457,827 (GRCm39) I477F probably damaging Het
Ogdhl T C 14: 32,061,285 (GRCm39) V492A possibly damaging Het
Or4a72 A G 2: 89,405,974 (GRCm39) I32T possibly damaging Het
Parvg A G 15: 84,222,083 (GRCm39) E323G probably benign Het
Pgap1 A G 1: 54,532,527 (GRCm39) L664S probably damaging Het
Pgm2l1 A G 7: 99,899,539 (GRCm39) N51S probably benign Het
Pik3r6 A G 11: 68,435,576 (GRCm39) T609A probably benign Het
Plcb4 T A 2: 135,813,776 (GRCm39) V705E probably damaging Het
Plppr5 T A 3: 117,465,538 (GRCm39) probably null Het
Prkg2 C A 5: 99,120,989 (GRCm39) D411Y probably damaging Het
Ptprd A G 4: 76,004,566 (GRCm39) V63A probably benign Het
Ptprz1 T A 6: 23,007,402 (GRCm39) I1655N probably damaging Het
Raf1 T A 6: 115,600,476 (GRCm39) D10V probably benign Het
Rexo1 T A 10: 80,380,212 (GRCm39) Q928L probably benign Het
Rpl7l1 A C 17: 47,089,456 (GRCm39) probably null Het
Rrm2b A G 15: 37,953,932 (GRCm39) S39P possibly damaging Het
Scn5a A G 9: 119,321,113 (GRCm39) probably null Het
Sigirr G T 7: 140,672,226 (GRCm39) probably null Het
Slc16a7 T C 10: 125,063,951 (GRCm39) D462G probably benign Het
Slc25a30 C T 14: 76,007,089 (GRCm39) A85T probably benign Het
Spata24 A G 18: 35,789,887 (GRCm39) S167P probably damaging Het
Spock3 C T 8: 63,597,041 (GRCm39) T115I possibly damaging Het
Srgap2 A G 1: 131,247,289 (GRCm39) I581T possibly damaging Het
Syn2 A T 6: 115,112,108 (GRCm39) M23L unknown Het
Synrg G A 11: 83,900,007 (GRCm39) V839I probably damaging Het
Tmtc1 A G 6: 148,314,327 (GRCm39) probably benign Het
Tnfaip3 C A 10: 18,887,374 (GRCm39) M50I probably damaging Het
Topbp1 T A 9: 103,202,972 (GRCm39) I721N possibly damaging Het
Ttc22 T G 4: 106,494,003 (GRCm39) V321G probably benign Het
Ubr2 A G 17: 47,303,911 (GRCm39) probably benign Het
Ubr4 T C 4: 139,164,369 (GRCm39) probably benign Het
Usp24 T C 4: 106,269,281 (GRCm39) probably benign Het
Vmn2r100 A T 17: 19,742,441 (GRCm39) I272L possibly damaging Het
Vrtn T A 12: 84,695,379 (GRCm39) L43H probably damaging Het
Wnk1 G T 6: 120,014,110 (GRCm39) R162S probably damaging Het
Xkr9 G A 1: 13,754,286 (GRCm39) W93* probably null Het
Zfp804b G T 5: 6,819,655 (GRCm39) P1136H probably damaging Het
Other mutations in Sgtb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Sgtb APN 13 104,254,922 (GRCm39) missense probably benign 0.00
IGL03225:Sgtb APN 13 104,268,453 (GRCm39) missense probably damaging 1.00
P0008:Sgtb UTSW 13 104,260,782 (GRCm39) missense probably damaging 1.00
R1556:Sgtb UTSW 13 104,276,284 (GRCm39) missense probably damaging 1.00
R2143:Sgtb UTSW 13 104,260,767 (GRCm39) missense probably damaging 1.00
R6802:Sgtb UTSW 13 104,268,558 (GRCm39) missense probably benign 0.04
R6887:Sgtb UTSW 13 104,247,659 (GRCm39) missense probably benign 0.00
R7086:Sgtb UTSW 13 104,254,924 (GRCm39) missense possibly damaging 0.68
R8263:Sgtb UTSW 13 104,268,692 (GRCm39) missense probably benign 0.00
R8881:Sgtb UTSW 13 104,258,046 (GRCm39) critical splice donor site probably null
R9314:Sgtb UTSW 13 104,254,933 (GRCm39) missense possibly damaging 0.88
R9472:Sgtb UTSW 13 104,247,681 (GRCm39) missense probably benign 0.09
X0014:Sgtb UTSW 13 104,268,477 (GRCm39) missense probably damaging 1.00
X0014:Sgtb UTSW 13 104,268,476 (GRCm39) nonsense probably null
Z1088:Sgtb UTSW 13 104,268,447 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGCTCCAAAAGTCTCCATGTTTTC -3'
(R):5'- ACACAGTTCCTTACAATGCCCAGTC -3'

Sequencing Primer
(F):5'- AAAGGGAGCCTACTTTTTCTTCCAG -3'
(R):5'- CCATGATGGACCTCAAGTGTAGTC -3'
Posted On 2013-05-09