Incidental Mutation 'IGL02954:Supt3'
ID 365036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Supt3
Ensembl Gene ENSMUSG00000038954
Gene Name SPT3, SAGA and STAGA complex component
Synonyms SPT3L, SPT3, Supt3h, 2310066G22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02954
Quality Score
Status
Chromosome 17
Chromosomal Location 45088039-45430177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45349015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 249 (D249G)
Ref Sequence ENSEMBL: ENSMUSP00000050783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050630] [ENSMUST00000127798] [ENSMUST00000129416]
AlphaFold Q8BVY4
Predicted Effect probably damaging
Transcript: ENSMUST00000050630
AA Change: D249G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050783
Gene: ENSMUSG00000038954
AA Change: D249G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:TFIID-18kDa 24 116 4.5e-38 PFAM
low complexity region 274 294 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000127798
AA Change: D249G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121148
Gene: ENSMUSG00000038954
AA Change: D249G

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:TFIID-18kDa 24 116 9.3e-39 PFAM
low complexity region 274 294 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000129416
AA Change: D242G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120197
Gene: ENSMUSG00000038954
AA Change: D242G

DomainStartEndE-ValueType
Pfam:TFIID-18kDa 17 109 1e-38 PFAM
low complexity region 267 287 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,782,341 (GRCm39) R908L probably benign Het
Abcc9 T C 6: 142,592,007 (GRCm39) N774S probably damaging Het
Alpk2 C T 18: 65,439,207 (GRCm39) V729I probably benign Het
Atf3 T C 1: 190,903,852 (GRCm39) N125D probably damaging Het
Bcat1 C T 6: 144,964,945 (GRCm39) G215D probably damaging Het
Bptf G T 11: 106,945,575 (GRCm39) Q2555K possibly damaging Het
Cthrc1 A G 15: 38,940,389 (GRCm39) probably benign Het
Cyp2c38 A G 19: 39,379,520 (GRCm39) M443T probably damaging Het
D6Wsu163e C T 6: 126,951,441 (GRCm39) probably benign Het
Dgkg T A 16: 22,441,003 (GRCm39) E3D probably benign Het
Dnah8 G T 17: 30,923,809 (GRCm39) R1259L probably benign Het
Dnah9 A G 11: 66,009,793 (GRCm39) L698P probably damaging Het
Ebag9 A C 15: 44,493,601 (GRCm39) H141P probably benign Het
Emilin2 T C 17: 71,563,526 (GRCm39) R840G probably benign Het
Faap100 A T 11: 120,262,957 (GRCm39) H800Q probably damaging Het
Fh1 A T 1: 175,437,301 (GRCm39) I266N probably damaging Het
Fkbp15 A G 4: 62,239,302 (GRCm39) probably benign Het
Gm17334 A G 11: 53,663,654 (GRCm39) probably benign Het
Gm5773 G T 3: 93,680,358 (GRCm39) W10L probably benign Het
Gng13 T C 17: 25,937,726 (GRCm39) Y18H probably damaging Het
Hivep3 T C 4: 119,990,838 (GRCm39) S2113P probably damaging Het
Ift81 A T 5: 122,748,248 (GRCm39) probably benign Het
Irak3 A C 10: 120,012,147 (GRCm39) L206V probably damaging Het
Kcng4 C T 8: 120,359,792 (GRCm39) A195T probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Nars2 T G 7: 96,689,100 (GRCm39) probably null Het
Nol8 T C 13: 49,814,648 (GRCm39) V234A probably benign Het
Or12j4 A T 7: 140,046,353 (GRCm39) K80* probably null Het
Or1o4 T A 17: 37,591,195 (GRCm39) N39Y probably damaging Het
Patz1 A G 11: 3,241,761 (GRCm39) Y383C probably damaging Het
Pdcd5 T C 7: 35,343,089 (GRCm39) Y152C probably damaging Het
Phkg1 A G 5: 129,894,910 (GRCm39) W214R probably damaging Het
Plxna1 A G 6: 89,301,649 (GRCm39) L1459P probably damaging Het
Pspc1 G A 14: 57,009,217 (GRCm39) P206S probably benign Het
St7 A T 6: 17,848,030 (GRCm39) N198I probably damaging Het
Taf1c T C 8: 120,327,225 (GRCm39) Y418C probably damaging Het
Tdrd6 A G 17: 43,938,153 (GRCm39) V965A possibly damaging Het
Ugt2b35 A G 5: 87,159,180 (GRCm39) N458S probably benign Het
Vmn1r8 A G 6: 57,013,315 (GRCm39) Y122C probably benign Het
Other mutations in Supt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01485:Supt3 APN 17 45,430,045 (GRCm39) missense possibly damaging 0.72
IGL02171:Supt3 APN 17 45,314,043 (GRCm39) missense probably damaging 1.00
IGL03115:Supt3 APN 17 45,352,114 (GRCm39) missense probably damaging 1.00
IGL03166:Supt3 APN 17 45,234,106 (GRCm39) missense probably damaging 1.00
pottery UTSW 17 45,352,116 (GRCm39) nonsense probably null
R0122:Supt3 UTSW 17 45,314,028 (GRCm39) missense probably damaging 1.00
R0245:Supt3 UTSW 17 45,347,662 (GRCm39) missense probably benign 0.12
R0517:Supt3 UTSW 17 45,430,158 (GRCm39) missense probably benign 0.18
R0539:Supt3 UTSW 17 45,314,018 (GRCm39) missense possibly damaging 0.95
R1485:Supt3 UTSW 17 45,347,607 (GRCm39) missense probably benign 0.21
R3723:Supt3 UTSW 17 45,305,274 (GRCm39) missense probably damaging 0.99
R4540:Supt3 UTSW 17 45,347,662 (GRCm39) missense probably benign 0.12
R4570:Supt3 UTSW 17 45,352,116 (GRCm39) nonsense probably null
R6429:Supt3 UTSW 17 45,430,030 (GRCm39) missense probably benign 0.04
R9064:Supt3 UTSW 17 45,305,295 (GRCm39) critical splice donor site probably null
R9314:Supt3 UTSW 17 45,352,250 (GRCm39) missense probably benign 0.08
R9638:Supt3 UTSW 17 45,234,133 (GRCm39) missense possibly damaging 0.71
Posted On 2015-12-18