Incidental Mutation 'IGL02244:Supt6'
ID 286096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Supt6
Ensembl Gene ENSMUSG00000002052
Gene Name SPT6, histone chaperone and transcription elongation factor
Synonyms SPT6, 5131400N11Rik, Supt6h
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02244
Quality Score
Status
Chromosome 11
Chromosomal Location 78097575-78136798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78123623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 49 (D49G)
Ref Sequence ENSEMBL: ENSMUSP00000002121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002121]
AlphaFold Q62383
Predicted Effect possibly damaging
Transcript: ENSMUST00000002121
AA Change: D49G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002121
Gene: ENSMUSG00000002052
AA Change: D49G

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:SPT6_acidic 37 127 8.8e-19 PFAM
low complexity region 146 164 N/A INTRINSIC
low complexity region 170 189 N/A INTRINSIC
low complexity region 192 203 N/A INTRINSIC
low complexity region 220 250 N/A INTRINSIC
low complexity region 252 267 N/A INTRINSIC
Pfam:HTH_44 305 432 1.3e-28 PFAM
low complexity region 494 509 N/A INTRINSIC
YqgFc 779 894 4.27e-21 SMART
Pfam:HHH_7 935 1038 3.1e-55 PFAM
Pfam:HHH_3 966 1036 5.2e-10 PFAM
Pfam:DLD 1051 1159 6.8e-39 PFAM
S1 1221 1282 2.8e-3 SMART
SH2 1332 1421 4.12e-11 SMART
low complexity region 1441 1454 N/A INTRINSIC
Blast:SH2 1455 1517 9e-19 BLAST
low complexity region 1586 1599 N/A INTRINSIC
low complexity region 1639 1664 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during pre-implantation development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly damaging Het
Other mutations in Supt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Supt6 APN 11 78,122,007 (GRCm39) missense possibly damaging 0.94
IGL01457:Supt6 APN 11 78,111,969 (GRCm39) missense probably damaging 1.00
IGL01608:Supt6 APN 11 78,116,309 (GRCm39) missense probably damaging 1.00
IGL01739:Supt6 APN 11 78,113,013 (GRCm39) missense probably damaging 1.00
IGL01765:Supt6 APN 11 78,112,985 (GRCm39) missense probably benign 0.09
IGL01894:Supt6 APN 11 78,113,664 (GRCm39) missense probably benign 0.00
IGL01952:Supt6 APN 11 78,116,586 (GRCm39) missense probably benign 0.01
IGL02067:Supt6 APN 11 78,121,983 (GRCm39) missense probably benign 0.01
IGL02267:Supt6 APN 11 78,117,030 (GRCm39) missense possibly damaging 0.72
IGL02379:Supt6 APN 11 78,116,195 (GRCm39) missense possibly damaging 0.75
IGL02541:Supt6 APN 11 78,117,744 (GRCm39) missense probably damaging 0.99
IGL02635:Supt6 APN 11 78,103,565 (GRCm39) missense probably damaging 1.00
IGL03347:Supt6 APN 11 78,123,011 (GRCm39) missense possibly damaging 0.71
IGL02980:Supt6 UTSW 11 78,116,548 (GRCm39) missense probably damaging 1.00
IGL02991:Supt6 UTSW 11 78,116,179 (GRCm39) missense probably damaging 1.00
R0145:Supt6 UTSW 11 78,099,062 (GRCm39) missense probably benign 0.22
R0371:Supt6 UTSW 11 78,113,983 (GRCm39) missense probably benign 0.00
R0452:Supt6 UTSW 11 78,117,829 (GRCm39) missense probably damaging 1.00
R0464:Supt6 UTSW 11 78,107,164 (GRCm39) missense probably benign 0.33
R0616:Supt6 UTSW 11 78,100,321 (GRCm39) missense probably damaging 1.00
R0653:Supt6 UTSW 11 78,116,841 (GRCm39) missense probably benign 0.01
R0788:Supt6 UTSW 11 78,098,598 (GRCm39) unclassified probably benign
R1103:Supt6 UTSW 11 78,116,299 (GRCm39) missense possibly damaging 0.59
R1282:Supt6 UTSW 11 78,119,594 (GRCm39) missense possibly damaging 0.83
R1460:Supt6 UTSW 11 78,113,024 (GRCm39) missense possibly damaging 0.93
R1508:Supt6 UTSW 11 78,107,029 (GRCm39) critical splice donor site probably null
R1850:Supt6 UTSW 11 78,110,703 (GRCm39) splice site probably benign
R1854:Supt6 UTSW 11 78,123,366 (GRCm39) missense possibly damaging 0.51
R1855:Supt6 UTSW 11 78,123,366 (GRCm39) missense possibly damaging 0.51
R2054:Supt6 UTSW 11 78,115,187 (GRCm39) splice site probably benign
R2098:Supt6 UTSW 11 78,104,087 (GRCm39) splice site probably null
R2146:Supt6 UTSW 11 78,121,758 (GRCm39) missense probably damaging 1.00
R2167:Supt6 UTSW 11 78,098,993 (GRCm39) missense possibly damaging 0.94
R4621:Supt6 UTSW 11 78,103,572 (GRCm39) missense possibly damaging 0.65
R4734:Supt6 UTSW 11 78,115,509 (GRCm39) missense probably benign 0.01
R4825:Supt6 UTSW 11 78,098,960 (GRCm39) missense possibly damaging 0.84
R5575:Supt6 UTSW 11 78,119,787 (GRCm39) missense probably damaging 1.00
R5789:Supt6 UTSW 11 78,124,412 (GRCm39) missense unknown
R5889:Supt6 UTSW 11 78,103,574 (GRCm39) missense probably damaging 0.98
R6296:Supt6 UTSW 11 78,116,885 (GRCm39) missense possibly damaging 0.48
R6297:Supt6 UTSW 11 78,116,885 (GRCm39) missense possibly damaging 0.48
R6394:Supt6 UTSW 11 78,121,891 (GRCm39) missense probably damaging 1.00
R6702:Supt6 UTSW 11 78,122,626 (GRCm39) missense possibly damaging 0.93
R6737:Supt6 UTSW 11 78,122,644 (GRCm39) missense probably damaging 0.99
R6751:Supt6 UTSW 11 78,099,775 (GRCm39) missense probably benign 0.09
R6853:Supt6 UTSW 11 78,123,656 (GRCm39) missense possibly damaging 0.85
R7213:Supt6 UTSW 11 78,122,976 (GRCm39) missense probably damaging 1.00
R7259:Supt6 UTSW 11 78,098,442 (GRCm39) missense probably damaging 0.99
R7609:Supt6 UTSW 11 78,117,777 (GRCm39) missense probably benign 0.01
R7776:Supt6 UTSW 11 78,100,355 (GRCm39) missense probably damaging 0.99
R8683:Supt6 UTSW 11 78,108,727 (GRCm39) missense probably benign 0.13
R8895:Supt6 UTSW 11 78,103,664 (GRCm39) missense probably damaging 0.98
R9097:Supt6 UTSW 11 78,113,100 (GRCm39) missense probably benign 0.00
R9175:Supt6 UTSW 11 78,112,052 (GRCm39) missense possibly damaging 0.70
R9228:Supt6 UTSW 11 78,116,612 (GRCm39) missense probably benign 0.03
R9311:Supt6 UTSW 11 78,116,284 (GRCm39) missense probably damaging 1.00
R9476:Supt6 UTSW 11 78,120,290 (GRCm39) missense probably damaging 1.00
R9510:Supt6 UTSW 11 78,120,290 (GRCm39) missense probably damaging 1.00
R9748:Supt6 UTSW 11 78,108,767 (GRCm39) missense probably damaging 0.96
X0067:Supt6 UTSW 11 78,123,501 (GRCm39) missense probably benign
Z1176:Supt6 UTSW 11 78,102,662 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16