Incidental Mutation 'R7086:Sgtb'
ID549915
Institutional Source Beutler Lab
Gene Symbol Sgtb
Ensembl Gene ENSMUSG00000042743
Gene Namesmall glutamine-rich tetratricopeptide repeat (TPR)-containing, beta
SynonymsC630001O05Rik
MMRRC Submission
Accession Numbers

NCBI RefSeq: NM_144838.1; MGI:2444615

Is this an essential gene? Possibly non essential (E-score: 0.267) question?
Stock #R7086 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location104109741-104141735 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104118416 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
Ref Sequence ENSEMBL: ENSMUSP00000041307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044385] [ENSMUST00000159574] [ENSMUST00000160322]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044385
AA Change: S65P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
AA Change: S65P

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
SMART Domains Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743

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 possibly damaging
Transcript: ENSMUST00000160322
AA Change: S65P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125569
Gene: ENSMUSG00000042743
AA Change: S65P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (60/61)
Allele List at MGI

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

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,161,319 H28R probably damaging Het
Adgre4 T C 17: 55,820,649 I563T probably benign Het
Ankub1 A T 3: 57,690,325 C75S probably damaging Het
Antxrl G A 14: 34,065,916 V299I probably benign Het
Arfgef2 T A 2: 166,876,616 C1442S probably damaging Het
Atp13a3 T C 16: 30,351,063 D399G possibly damaging Het
Cacna2d1 T A 5: 16,349,416 Y666N probably damaging Het
Cenpo C T 12: 4,215,307 E238K probably benign Het
Chrng C A 1: 87,211,013 R455S probably benign Het
Cluh T A 11: 74,667,340 H1155Q possibly damaging Het
Col16a1 G A 4: 130,052,980 probably null Het
Cpne5 G A 17: 29,159,077 P576L unknown Het
Crocc C A 4: 141,047,057 V144L possibly damaging Het
Cubn A G 2: 13,319,858 V2781A probably damaging Het
Cyp8b1 A G 9: 121,915,289 F326L probably benign Het
Dclk1 G A 3: 55,487,912 probably null Het
Dnah7c A G 1: 46,750,125 R3303G probably benign Het
Dnhd1 G T 7: 105,708,532 R3191S probably benign Het
Fgfbp3 T G 19: 36,918,703 S172R possibly damaging Het
Gpr158 G A 2: 21,826,575 V829I probably benign Het
Gtse1 A G 15: 85,875,549 D647G probably damaging Het
H2-Q7 T A 17: 35,439,485 V33E probably damaging Het
Hydin A G 8: 110,600,245 T4739A possibly damaging Het
Kcnip1 G T 11: 33,634,629 P175T probably damaging Het
Klhl10 T C 11: 100,456,942 V608A probably benign Het
Klhl2 A G 8: 64,823,012 Y80H probably damaging Het
Lnx2 A T 5: 147,020,178 probably null Het
Lst1 G A 17: 35,185,286 H59Y probably damaging Het
Maats1 A T 16: 38,306,857 F512L possibly damaging Het
Mphosph8 G C 14: 56,668,523 V58L possibly damaging Het
Mpnd C A 17: 56,009,457 S45R possibly damaging Het
Myh8 A G 11: 67,292,627 probably null Het
Odf3 A G 7: 140,849,489 H151R probably benign Het
Olfr1263 A G 2: 90,015,250 I107V probably benign Het
Olfr533 A G 7: 140,466,428 T76A possibly damaging Het
Phox2a A G 7: 101,818,511 Y5C probably damaging Het
Pkdrej A G 15: 85,820,116 S540P probably damaging Het
Plcb4 A G 2: 136,007,847 M1133V probably benign Het
Plxnc1 T C 10: 94,831,435 M1126V probably benign Het
Ppm1l A G 3: 69,317,853 Y96C probably damaging Het
Prpsap1 T C 11: 116,477,283 T234A probably benign Het
R3hcc1l T C 19: 42,581,970 V668A probably damaging Het
Rapgef2 A G 3: 79,086,046 S712P probably benign Het
Rcc2 T C 4: 140,707,969 C100R probably benign Het
Recql4 C A 15: 76,705,553 G764V unknown Het
Rlbp1 A G 7: 79,380,065 I140T possibly damaging Het
Samsn1 T C 16: 75,870,906 T261A probably benign Het
Spag9 T C 11: 94,097,864 V920A probably benign Het
Spata31 T A 13: 64,922,229 S730R probably benign Het
Spta1 C T 1: 174,199,484 A841V probably damaging Het
St5 A G 7: 109,525,574 I1083T probably damaging Het
Tnfaip1 T C 11: 78,525,439 S273G probably benign Het
Vezf1 T C 11: 88,078,538 V371A probably benign Het
Vmn1r67 G A 7: 10,447,117 V103I possibly damaging Het
Vmn2r87 G T 10: 130,497,309 T24K probably benign Het
Wdr43 G A 17: 71,616,439 G60D probably benign Het
Xkr4 G A 1: 3,216,962 T335I probably damaging Het
Zdhhc23 A T 16: 43,971,510 I300N probably damaging Het
Zfp729b T C 13: 67,592,937 K403R probably damaging Het
Other mutations in Sgtb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Sgtb APN 13 104118414 missense probably benign 0.00
IGL03225:Sgtb APN 13 104131945 missense probably damaging 1.00
P0008:Sgtb UTSW 13 104124274 missense probably damaging 1.00
R0044:Sgtb UTSW 13 104129260 missense probably benign 0.00
R1556:Sgtb UTSW 13 104139776 missense probably damaging 1.00
R2143:Sgtb UTSW 13 104124259 missense probably damaging 1.00
R6802:Sgtb UTSW 13 104132050 missense probably benign 0.04
R6887:Sgtb UTSW 13 104111151 missense probably benign 0.00
X0014:Sgtb UTSW 13 104131968 nonsense probably null
X0014:Sgtb UTSW 13 104131969 missense probably damaging 1.00
Z1088:Sgtb UTSW 13 104131939 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGCTGGACCAATTAGTTTTC -3'
(R):5'- GCTGCTAATATGACCATCTAAAGC -3'

Sequencing Primer
(F):5'- GCTGGACCAATTAGTTTTCTTTACG -3'
(R):5'- TGACCATCTAAAGCATATGCATATG -3'
Posted On2019-05-15