Incidental Mutation 'IGL02385:Tbpl1'
ID 291518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbpl1
Ensembl Gene ENSMUSG00000071359
Gene Name TATA box binding protein-like 1
Synonyms Tlp, TRF2, TLF, TRP
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # IGL02385
Quality Score
Status
Chromosome 10
Chromosomal Location 22579778-22607837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22583568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 134 (L134P)
Ref Sequence ENSEMBL: ENSMUSP00000114223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042261] [ENSMUST00000095794] [ENSMUST00000127698]
AlphaFold P62340
Predicted Effect probably benign
Transcript: ENSMUST00000042261
SMART Domains Protein: ENSMUSP00000043962
Gene: ENSMUSG00000037490

DomainStartEndE-ValueType
Pfam:MFS_1 42 390 5.3e-27 PFAM
Pfam:Sugar_tr 47 381 9.1e-76 PFAM
Pfam:Sugar_tr 451 569 4e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095794
AA Change: L134P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093470
Gene: ENSMUSG00000071359
AA Change: L134P

DomainStartEndE-ValueType
Pfam:TBP 8 92 8.3e-24 PFAM
Pfam:TBP 97 182 4.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127698
AA Change: L134P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114223
Gene: ENSMUSG00000071359
AA Change: L134P

DomainStartEndE-ValueType
Pfam:TBP 10 91 2.4e-25 PFAM
Pfam:TBP 99 181 1.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141569
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011]
PHENOTYPE: Males homozygous for targeted null mutations are sterile due to a block in spermiogenesis. Spermatids exhibit defective acrosome formation, fragmentation of the chromocenter, and develop at most to step 7 of differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,201,630 (GRCm39) D351E probably damaging Het
Adad2 A G 8: 120,341,773 (GRCm39) probably benign Het
Adamts8 A G 9: 30,873,026 (GRCm39) N744D probably benign Het
Atad5 C T 11: 79,985,453 (GRCm39) T180I probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bcl9 A T 3: 97,116,594 (GRCm39) I700K probably benign Het
Bcr T C 10: 74,981,235 (GRCm39) S685P probably damaging Het
Cd36 A G 5: 18,019,717 (GRCm39) V128A probably benign Het
Cfap20dc A G 14: 8,510,920 (GRCm38) V498A possibly damaging Het
Chd2 T C 7: 73,085,570 (GRCm39) Y1688C probably damaging Het
Csmd1 A G 8: 15,953,275 (GRCm39) V3402A probably benign Het
Dsg3 T C 18: 20,660,771 (GRCm39) V370A probably damaging Het
Dus4l A G 12: 31,690,674 (GRCm39) probably benign Het
Fcrlb A G 1: 170,735,168 (GRCm39) S320P probably damaging Het
Fer1l4 T C 2: 155,887,348 (GRCm39) D616G probably benign Het
Fxr2 C T 11: 69,543,095 (GRCm39) R631C possibly damaging Het
Gltpd2 T A 11: 70,410,822 (GRCm39) F152I probably damaging Het
Gpt2 T A 8: 86,242,782 (GRCm39) probably null Het
Hsd3b6 A T 3: 98,713,888 (GRCm39) I137K possibly damaging Het
Kcna6 A G 6: 126,715,917 (GRCm39) V324A probably benign Het
Kcnu1 C T 8: 26,422,298 (GRCm39) L188F probably damaging Het
Kdm1b A G 13: 47,221,982 (GRCm39) I474V possibly damaging Het
Kifap3 C T 1: 163,693,013 (GRCm39) Q602* probably null Het
Lrp4 T A 2: 91,305,065 (GRCm39) C231S possibly damaging Het
Lrrc63 T C 14: 75,323,640 (GRCm39) D528G probably benign Het
Nosip C A 7: 44,726,156 (GRCm39) R240S possibly damaging Het
Or11g26 T C 14: 50,752,900 (GRCm39) S80P probably damaging Het
Or4f57 G A 2: 111,790,603 (GRCm39) P272S probably benign Het
Or4k41 A G 2: 111,279,695 (GRCm39) D70G probably damaging Het
Orc5 A T 5: 22,731,438 (GRCm39) D231E probably damaging Het
Poli A T 18: 70,659,645 (GRCm39) M62K possibly damaging Het
Ppp1r13b A C 12: 111,801,477 (GRCm39) S402R probably damaging Het
Prl3b1 T C 13: 27,433,366 (GRCm39) S174P possibly damaging Het
Ptpra T C 2: 130,382,393 (GRCm39) probably benign Het
Sfpq T A 4: 126,919,929 (GRCm39) probably null Het
Sh3bp1 T A 15: 78,790,088 (GRCm39) probably benign Het
Slc7a2 T G 8: 41,352,048 (GRCm39) V37G probably damaging Het
Smc1a A T X: 150,820,655 (GRCm39) E794D possibly damaging Het
Sox6 T C 7: 115,149,274 (GRCm39) R366G possibly damaging Het
Spaca7 A G 8: 12,636,498 (GRCm39) N108S possibly damaging Het
Spon1 T G 7: 113,365,567 (GRCm39) M1R probably null Het
Sult6b2 T C 6: 142,747,498 (GRCm39) R84G probably benign Het
Syt2 A G 1: 134,673,553 (GRCm39) N299S probably benign Het
Syvn1 T C 19: 6,098,570 (GRCm39) V104A probably damaging Het
Tex11 A T X: 99,920,135 (GRCm39) probably benign Het
Tnfrsf21 A G 17: 43,350,942 (GRCm39) S369G probably damaging Het
Tram1l1 T C 3: 124,115,707 (GRCm39) V289A probably benign Het
Ttyh3 A T 5: 140,619,060 (GRCm39) F277L probably benign Het
Vmn2r17 T G 5: 109,582,247 (GRCm39) N545K probably damaging Het
Wdr20 A T 12: 110,759,657 (GRCm39) H181L probably benign Het
Zscan20 A G 4: 128,498,392 (GRCm39) M2T possibly damaging Het
Other mutations in Tbpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0173:Tbpl1 UTSW 10 22,583,523 (GRCm39) nonsense probably null
R1777:Tbpl1 UTSW 10 22,583,742 (GRCm39) missense probably damaging 1.00
R2018:Tbpl1 UTSW 10 22,583,576 (GRCm39) missense probably damaging 0.99
R2019:Tbpl1 UTSW 10 22,583,576 (GRCm39) missense probably damaging 0.99
R2365:Tbpl1 UTSW 10 22,581,785 (GRCm39) missense possibly damaging 0.93
R3841:Tbpl1 UTSW 10 22,587,807 (GRCm39) splice site probably benign
R6598:Tbpl1 UTSW 10 22,583,748 (GRCm39) missense probably damaging 0.99
R9437:Tbpl1 UTSW 10 22,587,838 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16