Incidental Mutation 'R9638:Supt3'
ID 725850
Institutional Source Beutler Lab
Gene Symbol Supt3
Ensembl Gene ENSMUSG00000038954
Gene Name SPT3, SAGA and STAGA complex component
Synonyms SPT3L, SPT3, Supt3h, 2310066G22Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9638 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 45088039-45430177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45234133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 50 (T50A)
Ref Sequence ENSEMBL: ENSMUSP00000120197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050630] [ENSMUST00000127798] [ENSMUST00000129416]
AlphaFold Q8BVY4
Predicted Effect probably benign
Transcript: ENSMUST00000050630
AA Change: T57A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000050783
Gene: ENSMUSG00000038954
AA Change: T57A

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 benign
Transcript: ENSMUST00000127798
AA Change: T57A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121148
Gene: ENSMUSG00000038954
AA Change: T57A

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: T50A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120197
Gene: ENSMUSG00000038954
AA Change: T50A

DomainStartEndE-ValueType
Pfam:TFIID-18kDa 17 109 1e-38 PFAM
low complexity region 267 287 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T G 4: 53,092,806 (GRCm39) E326A probably damaging Het
Aldh1a1 T A 19: 20,614,100 (GRCm39) N423K probably benign Het
Aldh4a1 T A 4: 139,371,427 (GRCm39) I447N probably damaging Het
Atg9b T C 5: 24,596,406 (GRCm39) D170G possibly damaging Het
Bnc2 C T 4: 84,332,492 (GRCm39) V75M probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Ccdc162 C A 10: 41,437,159 (GRCm39) C1750F probably benign Het
Cdh10 T A 15: 18,964,301 (GRCm39) N154K probably damaging Het
Cdh22 T C 2: 164,988,687 (GRCm39) I223V probably damaging Het
Ces1b T A 8: 93,806,534 (GRCm39) H4L probably benign Het
Cfap46 A T 7: 139,209,763 (GRCm39) F1806I unknown Het
Cwh43 T A 5: 73,565,486 (GRCm39) V17D possibly damaging Het
Ddx3y C T Y: 1,263,599 (GRCm39) G623D probably benign Het
Dtna A T 18: 23,744,122 (GRCm39) I389L probably benign Het
F830016B08Rik A G 18: 60,432,956 (GRCm39) D13G probably benign Het
Fam161b T C 12: 84,403,187 (GRCm39) I148V probably benign Het
Fhip1a T A 3: 85,568,391 (GRCm39) N1043Y probably damaging Het
Fli1 T C 9: 32,388,020 (GRCm39) Y23C probably damaging Het
Gimap6 A G 6: 48,679,424 (GRCm39) V204A probably benign Het
Ighv4-1 T G 12: 113,911,904 (GRCm39) R116S probably damaging Het
Isx T C 8: 75,619,566 (GRCm39) L239P probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Krt81 T C 15: 101,358,856 (GRCm39) T299A probably benign Het
Lrrc30 A G 17: 67,939,226 (GRCm39) L118P probably damaging Het
Mapk8ip3 T C 17: 25,118,023 (GRCm39) T1290A probably benign Het
Mef2b ACCCTCACCC ACC 8: 70,619,506 (GRCm39) probably null Het
Meltf G A 16: 31,706,409 (GRCm39) E298K possibly damaging Het
Muc16 T A 9: 18,550,626 (GRCm39) E5222D probably benign Het
Nin T C 12: 70,067,618 (GRCm39) N2003S Het
Or1e23 A G 11: 73,407,875 (GRCm39) I50T probably benign Het
Or2b4 G A 17: 38,116,509 (GRCm39) V158M probably damaging Het
Or51f1d T C 7: 102,701,018 (GRCm39) L171P probably damaging Het
Palld A G 8: 62,002,788 (GRCm39) V826A unknown Het
Paxbp1 C A 16: 90,831,881 (GRCm39) V336L probably benign Het
Paxbp1 T A 16: 90,831,882 (GRCm39) E335D probably benign Het
Por C A 5: 135,754,615 (GRCm39) Q12K unknown Het
Pot1a G A 6: 25,750,106 (GRCm39) Q519* probably null Het
Psd GCC GC 19: 46,301,841 (GRCm39) probably null Het
Ptger4 A G 15: 5,264,693 (GRCm39) F321S probably damaging Het
Ptk7 A G 17: 46,890,519 (GRCm39) Y438H possibly damaging Het
Rimklb A T 6: 122,433,558 (GRCm39) N254K probably benign Het
Rpn2 A T 2: 157,125,566 (GRCm39) T26S probably benign Het
Rtn4rl2 A T 2: 84,710,760 (GRCm39) L168H probably damaging Het
Scel G T 14: 103,779,409 (GRCm39) A127S possibly damaging Het
Sema4a T A 3: 88,357,066 (GRCm39) N302Y probably damaging Het
Upf3a G A 8: 13,848,343 (GRCm39) A380T probably benign Het
Zbtb14 G A 17: 69,695,375 (GRCm39) E358K probably damaging Het
Zfp677 A T 17: 21,618,056 (GRCm39) H371L probably damaging 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
IGL02954:Supt3 APN 17 45,349,015 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- CTAGAAGTAAGTGTGCACTGTTG -3'
(R):5'- GAATCTGTTTACGCACTTAAACCAG -3'

Sequencing Primer
(F):5'- GCACTGTTGAATTGTTTAAGAGCAG -3'
(R):5'- GTGTTGGGTTGGAACAAC -3'
Posted On 2022-09-12