Incidental Mutation 'R0173:Tbpl1'
ID 23724
Institutional Source Beutler Lab
Gene Symbol Tbpl1
Ensembl Gene ENSMUSG00000071359
Gene Name TATA box binding protein-like 1
Synonyms Tlp, TRF2, TLF, TRP
MMRRC Submission 038445-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R0173 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 22579778-22607837 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 22583523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 149 (L149*)
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 null
Transcript: ENSMUST00000095794
AA Change: L149*
SMART Domains Protein: ENSMUSP00000093470
Gene: ENSMUSG00000071359
AA Change: L149*

DomainStartEndE-ValueType
Pfam:TBP 8 92 8.3e-24 PFAM
Pfam:TBP 97 182 4.5e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000127698
AA Change: L149*
SMART Domains Protein: ENSMUSP00000114223
Gene: ENSMUSG00000071359
AA Change: L149*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 95.1%
Validation Efficiency 96% (64/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik G A 8: 100,148,286 (GRCm39) noncoding transcript Het
Akt1s1 C T 7: 44,502,284 (GRCm39) P95S possibly damaging Het
Ambra1 T C 2: 91,640,564 (GRCm39) probably benign Het
Aunip T A 4: 134,250,861 (GRCm39) W269R probably damaging Het
Bmper A G 9: 23,136,125 (GRCm39) M69V probably benign Het
Cdh2 A T 18: 16,783,314 (GRCm39) probably benign Het
Cenpe T C 3: 134,965,744 (GRCm39) M2074T probably benign Het
Col14a1 C T 15: 55,351,928 (GRCm39) P1592S probably damaging Het
Csgalnact1 G A 8: 68,913,681 (GRCm39) R175C probably damaging Het
Dtx1 A G 5: 120,820,818 (GRCm39) probably benign Het
Elmod3 T C 6: 72,554,571 (GRCm39) D154G probably damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Gab1 T C 8: 81,526,789 (GRCm39) D103G possibly damaging Het
Gon4l A G 3: 88,765,710 (GRCm39) D377G probably damaging Het
Gramd1c C T 16: 43,818,196 (GRCm39) R328K possibly damaging Het
Hdac3 A G 18: 38,074,806 (GRCm39) S312P probably damaging Het
Hmcn2 T C 2: 31,328,343 (GRCm39) probably null Het
Intu T C 3: 40,629,776 (GRCm39) probably null Het
Lnpk T C 2: 74,381,409 (GRCm39) K118R probably damaging Het
Lzts3 A C 2: 130,476,688 (GRCm39) *587G probably null Het
Mctp2 C T 7: 71,896,855 (GRCm39) probably null Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mmp23 G T 4: 155,735,222 (GRCm39) R374S possibly damaging Het
Morc3 G A 16: 93,629,094 (GRCm39) probably null Het
Mymk C T 2: 26,952,262 (GRCm39) A161T probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Neb T C 2: 52,133,859 (GRCm39) S3375G probably damaging Het
Nedd1 T C 10: 92,534,745 (GRCm39) D255G probably benign Het
Nid2 T C 14: 19,852,400 (GRCm39) probably benign Het
Nr1d2 A G 14: 18,215,502 (GRCm38) probably benign Het
Nus1 A G 10: 52,294,094 (GRCm39) H86R possibly damaging Het
Or5b118 A T 19: 13,449,065 (GRCm39) I244F probably benign Het
Or7g17 A G 9: 18,768,325 (GRCm39) I135V probably damaging Het
Plcxd2 A T 16: 45,785,542 (GRCm39) probably null Het
Prdm9 T A 17: 15,764,275 (GRCm39) D835V probably benign Het
Prdm9 A G 17: 15,764,297 (GRCm39) W828R probably benign Het
Prkd2 T C 7: 16,582,969 (GRCm39) S244P probably benign Het
Psmd4 A T 3: 94,940,234 (GRCm39) L159H probably damaging Het
Qprt C T 7: 126,707,543 (GRCm39) G215E probably damaging Het
Rab3gap2 C A 1: 184,982,104 (GRCm39) H385Q possibly damaging Het
Rapgef5 A G 12: 117,652,411 (GRCm39) D300G probably benign Het
Rbl1 A T 2: 157,001,605 (GRCm39) N894K probably benign Het
Rgma C T 7: 73,067,302 (GRCm39) R280W probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rundc3a T A 11: 102,289,071 (GRCm39) probably benign Het
Scaf11 A T 15: 96,318,075 (GRCm39) D496E probably benign Het
Scn9a T C 2: 66,363,437 (GRCm39) Y936C probably damaging Het
Sdk1 A G 5: 142,159,564 (GRCm39) probably benign Het
Serpinb9 G A 13: 33,194,705 (GRCm39) D154N probably benign Het
Slc48a1 A T 15: 97,688,555 (GRCm39) H131L possibly damaging Het
Slco1a6 T C 6: 142,048,848 (GRCm39) N311D probably benign Het
Sorl1 A G 9: 41,979,229 (GRCm39) V423A probably damaging Het
Srrm2 C A 17: 24,034,103 (GRCm39) probably benign Het
Srsf12 A T 4: 33,226,117 (GRCm39) S122C probably damaging Het
Suclg2 G C 6: 95,452,154 (GRCm39) probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem63a T C 1: 180,782,363 (GRCm39) probably benign Het
Tut1 C T 19: 8,942,847 (GRCm39) R645* probably null Het
Ubqln4 T A 3: 88,462,686 (GRCm39) D50E probably benign Het
Ubr5 A G 15: 38,004,919 (GRCm39) S1227P probably damaging Het
Vipas39 A G 12: 87,297,285 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps26b G A 9: 26,924,101 (GRCm39) T214I probably benign Het
Xpc A G 6: 91,481,717 (GRCm39) probably benign Het
Other mutations in Tbpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02385:Tbpl1 APN 10 22,583,568 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGCAAAGTACAGTCGAGTGCCAG -3'
(R):5'- TGTGTAACATGCCCTTTGAGATCCG -3'

Sequencing Primer
(F):5'- CCAGGTGCTAACGGAGACTAC -3'
(R):5'- GAGATCCGTTTGCCAGAATTTAC -3'
Posted On 2013-04-16