Incidental Mutation 'IGL03058:Htatsf1'
ID 409346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htatsf1
Ensembl Gene ENSMUSG00000067873
Gene Name HIV TAT specific factor 1
Synonyms TAT-SF1, 2700077B20Rik, 2600017A12Rik, 1600023H17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # IGL03058
Quality Score
Status
Chromosome X
Chromosomal Location 56098943-56112543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56104281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 203 (D203E)
Ref Sequence ENSEMBL: ENSMUSP00000086027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088652] [ENSMUST00000114751]
AlphaFold Q8BGC0
Predicted Effect probably damaging
Transcript: ENSMUST00000088652
AA Change: D203E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086027
Gene: ENSMUSG00000067873
AA Change: D203E

DomainStartEndE-ValueType
RRM 135 215 5.17e-8 SMART
low complexity region 229 248 N/A INTRINSIC
RRM 266 346 1.12e-3 SMART
low complexity region 357 368 N/A INTRINSIC
low complexity region 433 449 N/A INTRINSIC
low complexity region 526 562 N/A INTRINSIC
low complexity region 569 580 N/A INTRINSIC
low complexity region 609 699 N/A INTRINSIC
low complexity region 738 755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114751
SMART Domains Protein: ENSMUSP00000110399
Gene: ENSMUSG00000067873

DomainStartEndE-ValueType
SCOP:d1fjeb2 129 170 3e-7 SMART
Blast:RRM 135 195 4e-35 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134785
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as a cofactor for the stimulation of transcriptional elongation by HIV-1 Tat, which binds to the HIV-1 promoter through Tat-TAR interaction. This protein may also serve as a dual-function factor to couple transcription and splicing and to facilitate their reciprocal activation. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,109,112 (GRCm39) V395A probably benign Het
Adck1 A T 12: 88,425,900 (GRCm39) T443S probably benign Het
Axdnd1 G A 1: 156,204,233 (GRCm39) A541V probably benign Het
B020011L13Rik A G 1: 117,710,699 (GRCm39) D35G possibly damaging Het
Bmp3 T G 5: 99,019,953 (GRCm39) I125M probably damaging Het
Cdc40 T C 10: 40,725,824 (GRCm39) E215G probably benign Het
Ces1f A G 8: 93,996,600 (GRCm39) probably null Het
Chd8 A C 14: 52,455,730 (GRCm39) V986G probably damaging Het
Clca4a A T 3: 144,667,595 (GRCm39) probably benign Het
Crhbp T A 13: 95,580,306 (GRCm39) E91V probably damaging Het
Dgkh T A 14: 78,865,237 (GRCm39) H53L probably benign Het
Dnajc1 T C 2: 18,222,132 (GRCm39) D532G possibly damaging Het
Dot1l T C 10: 80,626,831 (GRCm39) S230P probably benign Het
Evi5 C T 5: 107,896,017 (GRCm39) V809M probably damaging Het
Fbn1 T A 2: 125,245,120 (GRCm39) M256L probably benign Het
Fem1al T C 11: 29,774,656 (GRCm39) D267G probably benign Het
Fgfr2 C T 7: 129,784,422 (GRCm39) D292N probably damaging Het
Fmn1 C T 2: 113,272,159 (GRCm39) probably benign Het
Kcnh1 T A 1: 192,117,199 (GRCm39) L51Q probably damaging Het
Lamp5 A T 2: 135,911,047 (GRCm39) H260L probably benign Het
Mindy4 T A 6: 55,285,183 (GRCm39) V659D probably damaging Het
Mkks C A 2: 136,718,090 (GRCm39) L397F probably damaging Het
Ncan G A 8: 70,560,582 (GRCm39) S795F possibly damaging Het
Or13c7d A C 4: 43,770,255 (GRCm39) F252C probably damaging Het
Or9g4 T C 2: 85,505,025 (GRCm39) I157V probably benign Het
Papolg T C 11: 23,845,029 (GRCm39) M4V probably benign Het
Pdk3 A T X: 92,845,892 (GRCm39) I143N probably benign Het
Polr2a A T 11: 69,635,873 (GRCm39) probably null Het
Prc1 C T 7: 79,950,873 (GRCm39) T78I probably benign Het
Ret C A 6: 118,152,028 (GRCm39) D569Y probably damaging Het
Samd9l G T 6: 3,374,980 (GRCm39) N760K probably damaging Het
Slc5a12 T A 2: 110,471,137 (GRCm39) S460T probably benign Het
Slco1c1 A G 6: 141,508,913 (GRCm39) I573M probably benign Het
Spata31f1e G A 4: 42,793,764 (GRCm39) L123F probably damaging Het
Steap4 A G 5: 8,025,664 (GRCm39) D75G probably benign Het
Tcf20 A G 15: 82,736,205 (GRCm39) F1749L probably damaging Het
Thbs2 T C 17: 14,910,231 (GRCm39) T123A possibly damaging Het
Tmc3 T C 7: 83,265,094 (GRCm39) S663P possibly damaging Het
Vmn2r121 G T X: 123,042,618 (GRCm39) H180N probably benign Het
Vnn1 T C 10: 23,780,442 (GRCm39) F477L probably benign Het
Xpnpep2 A G X: 47,214,302 (GRCm39) probably null Het
Zfand4 T C 6: 116,265,038 (GRCm39) F168L probably benign Het
Other mutations in Htatsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2237:Htatsf1 UTSW X 56,111,864 (GRCm39) missense unknown
R2238:Htatsf1 UTSW X 56,111,864 (GRCm39) missense unknown
R2239:Htatsf1 UTSW X 56,111,864 (GRCm39) missense unknown
Z1177:Htatsf1 UTSW X 56,111,073 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02