Incidental Mutation 'R0595:Supt4a'
ID 261942
Institutional Source Beutler Lab
Gene Symbol Supt4a
Ensembl Gene ENSMUSG00000020485
Gene Name SPT4A, DSIF elongation factor subunit
Synonyms Supt4h1, Supt4h
MMRRC Submission 038785-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0595 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 87628378-87634449 bp(+) (GRCm39)
Type of Mutation splice site (45 bp from exon)
DNA Base Change (assembly) C to T at 87633982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093955] [ENSMUST00000141169] [ENSMUST00000152700]
AlphaFold P63271
Predicted Effect probably null
Transcript: ENSMUST00000093955
SMART Domains Protein: ENSMUSP00000091487
Gene: ENSMUSG00000020485

DomainStartEndE-ValueType
Spt4 13 90 3.22e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141169
SMART Domains Protein: ENSMUSP00000117762
Gene: ENSMUSG00000020485

DomainStartEndE-ValueType
Pfam:Spt4 13 76 3.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152700
SMART Domains Protein: ENSMUSP00000118619
Gene: ENSMUSG00000020485

DomainStartEndE-ValueType
Spt4 13 73 7.28e-10 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality at E7.5. Mice heterozygous for a knock-out allele partially suppress the motor defects and premature death associated with Tg(HDexon1)62Gpb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,790,417 (GRCm39) D1093E probably damaging Het
Aldh2 G T 5: 121,711,563 (GRCm39) A276D probably damaging Het
Aldh2 C T 5: 121,711,564 (GRCm39) A276T probably damaging Het
Aldh7a1 C T 18: 56,679,965 (GRCm39) probably benign Het
Ano1 C T 7: 144,143,890 (GRCm39) R964H possibly damaging Het
Apob G A 12: 8,058,369 (GRCm39) V2251I probably benign Het
Atp6v1e1 A G 6: 120,778,091 (GRCm39) V148A probably benign Het
Bbs9 T A 9: 22,408,111 (GRCm39) H73Q probably benign Het
Brca1 A G 11: 101,415,713 (GRCm39) V807A probably benign Het
Cacna1b C T 2: 24,540,001 (GRCm39) probably benign Het
Cadps2 A T 6: 23,321,703 (GRCm39) probably null Het
Cep152 T C 2: 125,436,983 (GRCm39) Q519R probably damaging Het
Cep295 A C 9: 15,243,487 (GRCm39) Y1608* probably null Het
Cfap54 T C 10: 92,720,598 (GRCm39) I2619V unknown Het
Dnajb9 A G 12: 44,255,067 (GRCm39) V7A probably benign Het
Ep400 T C 5: 110,851,408 (GRCm39) K1358R unknown Het
Fbxw7 C A 3: 84,884,674 (GRCm39) probably null Het
Fsip2 T C 2: 82,777,296 (GRCm39) Y108H probably damaging Het
Ggt6 T A 11: 72,328,493 (GRCm39) L331Q probably damaging Het
Ifitm1 T A 7: 140,548,242 (GRCm39) I25N possibly damaging Het
Krt75 C T 15: 101,476,789 (GRCm39) E367K probably damaging Het
Lifr A G 15: 7,206,950 (GRCm39) Y487C probably damaging Het
Map3k6 G T 4: 132,968,574 (GRCm39) G59W probably damaging Het
Mme A G 3: 63,235,602 (GRCm39) T129A probably benign Het
Mmp10 G A 9: 7,508,199 (GRCm39) E442K probably benign Het
Myh13 T C 11: 67,235,672 (GRCm39) S646P probably benign Het
Nbea A T 3: 55,535,917 (GRCm39) I2889N probably benign Het
Nlrp4d T A 7: 10,114,972 (GRCm39) K581N probably benign Het
Nr3c2 C T 8: 77,636,233 (GRCm39) P445S possibly damaging Het
Or5p63 A T 7: 107,810,868 (GRCm39) N289K probably damaging Het
Pck1 T A 2: 172,998,822 (GRCm39) V360E probably damaging Het
Plekha7 T C 7: 115,744,203 (GRCm39) D766G probably damaging Het
Prag1 A G 8: 36,614,156 (GRCm39) N1236S probably damaging Het
Prkdc A C 16: 15,625,952 (GRCm39) Q3326P probably damaging Het
Prrc2b T C 2: 32,073,189 (GRCm39) M57T probably damaging Het
Rb1 A T 14: 73,511,120 (GRCm39) F330I probably damaging Het
Rufy4 A G 1: 74,180,089 (GRCm39) E448G possibly damaging Het
Scn10a T A 9: 119,495,129 (GRCm39) M371L probably benign Het
Sgta T C 10: 80,884,742 (GRCm39) D189G probably damaging Het
Spata31d1b A G 13: 59,864,091 (GRCm39) H413R probably benign Het
Stau2 T C 1: 16,510,674 (GRCm39) T95A probably damaging Het
Tanc2 A G 11: 105,605,003 (GRCm39) probably null Het
Tap2 T A 17: 34,431,328 (GRCm39) V422D probably damaging Het
Tas2r138 A G 6: 40,589,799 (GRCm39) L149P probably damaging Het
Tex15 T C 8: 34,062,645 (GRCm39) S692P probably damaging Het
Tgm2 C T 2: 157,984,962 (GRCm39) R48H probably damaging Het
Ticrr T A 7: 79,345,311 (GRCm39) F1725L possibly damaging Het
Tnpo2 T A 8: 85,778,670 (GRCm39) C672* probably null Het
Xkr9 A G 1: 13,771,008 (GRCm39) I175V probably benign Het
Zfp428 T A 7: 24,214,803 (GRCm39) S140T probably benign Het
Other mutations in Supt4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0815:Supt4a UTSW 11 87,628,409 (GRCm39) unclassified probably benign
R0864:Supt4a UTSW 11 87,633,913 (GRCm39) missense probably benign 0.15
R5566:Supt4a UTSW 11 87,634,113 (GRCm39) missense probably benign 0.01
R7034:Supt4a UTSW 11 87,634,084 (GRCm39) missense probably damaging 0.99
R7036:Supt4a UTSW 11 87,634,084 (GRCm39) missense probably damaging 0.99
R8970:Supt4a UTSW 11 87,633,645 (GRCm39) missense probably benign 0.00
R9135:Supt4a UTSW 11 87,633,624 (GRCm39) missense probably benign 0.12
Predicted Primers
Posted On 2015-02-04