Incidental Mutation 'R1556:Sgtb'
ID170294
Institutional Source Beutler Lab
Gene Symbol Sgtb
Ensembl Gene ENSMUSG00000042743
Gene Namesmall glutamine-rich tetratricopeptide repeat (TPR)-containing, beta
SynonymsC630001O05Rik
MMRRC Submission 039595-MU
Accession Numbers

NCBI RefSeq: NM_144838.1; MGI:2444615

Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #R1556 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location104109741-104141735 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104139776 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 237 (N237K)
Ref Sequence ENSEMBL: ENSMUSP00000124895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022224] [ENSMUST00000044385] [ENSMUST00000141557] [ENSMUST00000144060] [ENSMUST00000159574] [ENSMUST00000179891]
Predicted Effect probably benign
Transcript: ENSMUST00000022224
SMART Domains Protein: ENSMUSP00000022224
Gene: ENSMUSG00000021711

DomainStartEndE-ValueType
Pfam:DUF974 65 298 1.3e-87 PFAM
low complexity region 366 388 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000044385
AA Change: N280K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
AA Change: N280K

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: ENSMUST00000141557
SMART Domains Protein: ENSMUSP00000118316
Gene: ENSMUSG00000021711

DomainStartEndE-ValueType
Pfam:DUF974 65 299 1.6e-88 PFAM
low complexity region 365 387 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144060
SMART Domains Protein: ENSMUSP00000114406
Gene: ENSMUSG00000021711

DomainStartEndE-ValueType
Pfam:DUF974 65 293 4.4e-87 PFAM
low complexity region 360 382 N/A INTRINSIC
low complexity region 399 412 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159574
AA Change: N237K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743
AA Change: N237K

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: ENSMUST00000179891
SMART Domains Protein: ENSMUSP00000136986
Gene: ENSMUSG00000021711

DomainStartEndE-ValueType
Pfam:DUF974 65 299 1e-87 PFAM
low complexity region 366 388 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,449,633 S302P probably damaging Het
Anapc1 T C 2: 128,624,899 T1626A probably benign Het
Arhgef6 T C X: 57,338,562 M5V probably benign Het
Arid5a T A 1: 36,320,164 Y520* probably null Het
Aven G A 2: 112,630,885 M215I probably damaging Het
Cabyr A G 18: 12,744,780 D58G probably damaging Het
Ccdc146 A G 5: 21,330,553 Y168H probably damaging Het
Ccnd2 A T 6: 127,130,400 S269T probably benign Het
Cd68 T A 11: 69,665,850 T44S probably damaging Het
Clstn2 A T 9: 97,456,505 I867N probably benign Het
Cmss1 C T 16: 57,316,197 R104H probably benign Het
Col6a6 A G 9: 105,709,473 V1783A possibly damaging Het
Dach2 T C X: 113,298,517 S31P probably benign Het
Dpp8 T A 9: 65,051,479 W279R probably damaging Het
Fras1 A T 5: 96,743,062 I2817F possibly damaging Het
Gabrr3 G A 16: 59,461,400 D373N probably benign Het
Gdf7 T C 12: 8,301,698 N79S unknown Het
Gpam A G 19: 55,076,331 V647A possibly damaging Het
Gpatch1 T C 7: 35,295,351 T497A probably benign Het
Grin2a A T 16: 9,707,715 F337L probably benign Het
Gtf3c3 C T 1: 54,417,778 A488T probably damaging Het
H2-Aa A T 17: 34,284,416 V69D possibly damaging Het
H2-M10.5 T C 17: 36,773,313 Y56H probably damaging Het
Kcnu1 G A 8: 25,861,191 probably null Het
Krt77 A G 15: 101,861,278 S386P probably damaging Het
L3mbtl2 T A 15: 81,682,002 M342K probably benign Het
Ldlrad1 A G 4: 107,217,813 T186A probably benign Het
Lins1 C A 7: 66,710,637 C168* probably null Het
Lrrtm3 G A 10: 64,088,149 T413M probably damaging Het
Macf1 T C 4: 123,455,020 D4038G probably damaging Het
Mark3 T G 12: 111,627,841 N308K probably damaging Het
Mdga2 T A 12: 66,550,593 Y709F possibly damaging Het
Mtus2 T A 5: 148,077,388 S330R probably benign Het
Olfr59 T A 11: 74,288,936 C97S probably damaging Het
Olfr645 T A 7: 104,084,261 H273L probably benign Het
Olfr726 G A 14: 50,084,459 A74V possibly damaging Het
Olfr809 T C 10: 129,776,373 V168A probably benign Het
Ovgp1 A G 3: 105,986,752 probably benign Het
P4ha2 A G 11: 54,125,010 T408A probably damaging Het
Pcdh8 T G 14: 79,770,403 D240A probably damaging Het
Pcyt2 T C 11: 120,612,085 probably null Het
Pecr T A 1: 72,259,383 I293L probably benign Het
Pogk A G 1: 166,398,833 V583A possibly damaging Het
Prkg1 T C 19: 30,624,743 K371R probably benign Het
Psmd2 T A 16: 20,655,585 M297K possibly damaging Het
Rgs12 A G 5: 35,039,282 R769G possibly damaging Het
Sh3bgrl2 T C 9: 83,594,698 V91A probably damaging Het
Slc4a1ap G A 5: 31,534,210 probably null Het
Slc4a7 T C 14: 14,778,872 V940A probably benign Het
Tep1 T C 14: 50,853,042 T740A probably benign Het
Tnk2 G T 16: 32,670,919 probably null Het
Trpv2 A G 11: 62,592,233 Y450C probably damaging Het
Tvp23a A T 16: 10,446,998 D16E probably damaging Het
Twnk T C 19: 45,009,411 F460L possibly damaging Het
Unc80 C T 1: 66,521,581 H823Y possibly damaging Het
Urb2 T C 8: 124,030,617 L1021P probably damaging Het
Vps13c T C 9: 67,930,711 Y1848H probably damaging Het
Vwa8 T G 14: 79,086,681 N1141K probably benign Het
Yipf3 A G 17: 46,250,867 Y200C probably damaging Het
Zbtb38 A G 9: 96,686,991 V680A probably benign Het
Zcchc6 T C 13: 59,800,240 T354A probably benign Het
Znrf3 T C 11: 5,281,347 E722G probably benign Het
Zzef1 T A 11: 72,915,233 L2665H 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
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
R7086:Sgtb UTSW 13 104118416 missense possibly damaging 0.68
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'- GCACCAGTACACACATGAGATGTACAG -3'
(R):5'- CGTGTCTTCTAAACCAGCATCGCC -3'

Sequencing Primer
(F):5'- CATGAGATGTACAGAAACGCAC -3'
(R):5'- GATCACTGCTTTCCAAAGGAGTC -3'
Posted On2014-04-13