Incidental Mutation 'R2365:Tbpl1'
ID 246299
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 040346-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R2365 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 22579778-22607837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22581785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 164 (V164A)
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 possibly damaging
Transcript: ENSMUST00000095794
AA Change: V164A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093470
Gene: ENSMUSG00000071359
AA Change: V164A

DomainStartEndE-ValueType
Pfam:TBP 8 92 8.3e-24 PFAM
Pfam:TBP 97 182 4.5e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000127698
AA Change: V164A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114223
Gene: ENSMUSG00000071359
AA Change: V164A

DomainStartEndE-ValueType
Pfam:TBP 10 91 2.4e-25 PFAM
Pfam:TBP 99 181 1.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141569
Meta Mutation Damage Score 0.1423 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 94% (34/36)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T A 16: 29,070,008 (GRCm39) K959N probably benign Het
C4b G A 17: 34,955,032 (GRCm39) probably benign Het
Cdhr2 T G 13: 54,865,901 (GRCm39) S268R probably benign Het
Erc1 A G 6: 119,552,656 (GRCm39) L1094P probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fat4 A G 3: 39,034,568 (GRCm39) H2740R probably benign Het
Galnt13 A G 2: 54,744,709 (GRCm39) Y136C possibly damaging Het
Gipc2 A G 3: 151,833,831 (GRCm39) I150T possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm21957 T C 7: 124,818,629 (GRCm39) noncoding transcript Het
Gm5591 T A 7: 38,218,825 (GRCm39) R683W probably damaging Het
Gm826 A G 2: 160,169,130 (GRCm39) S60P unknown Het
Hsd17b7 T C 1: 169,792,009 (GRCm39) D133G probably damaging Het
Kera A G 10: 97,444,805 (GRCm39) T55A probably benign Het
Mff T C 1: 82,713,192 (GRCm39) V129A possibly damaging Het
Myo7b A G 18: 32,147,384 (GRCm39) L53P probably damaging Het
Neo1 A G 9: 58,863,286 (GRCm39) V427A probably benign Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or52e19 A T 7: 102,959,380 (GRCm39) I151L probably benign Het
Pfkfb3 C T 2: 11,498,713 (GRCm39) probably null Het
Pom121l2 A G 13: 22,167,954 (GRCm39) T742A probably benign Het
Pon1 A G 6: 5,171,746 (GRCm39) S302P probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Sall3 G C 18: 81,015,007 (GRCm39) P974A probably benign Het
Slc1a2 T A 2: 102,578,798 (GRCm39) probably null Het
Slc22a6 A G 19: 8,596,761 (GRCm39) T180A probably benign Het
Slc40a1 T C 1: 45,963,873 (GRCm39) probably null Het
Slc6a5 T C 7: 49,596,284 (GRCm39) S585P possibly damaging Het
Tmem98 A T 11: 80,706,511 (GRCm39) I95F probably damaging Het
Ush2a C A 1: 188,111,188 (GRCm39) P571T possibly damaging Het
Vars1 A G 17: 35,234,428 (GRCm39) N1125D probably benign Het
Vps13d T C 4: 144,813,894 (GRCm39) probably benign Het
Zbtb18 A T 1: 177,275,723 (GRCm39) E361V probably benign Het
Zc3hav1 A G 6: 38,317,168 (GRCm39) F144S probably damaging Het
Other mutations in Tbpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02385:Tbpl1 APN 10 22,583,568 (GRCm39) missense probably damaging 1.00
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
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'- TACACTGCAGCTGTGAGTCC -3'
(R):5'- GTTTTGGACCCTTCTGCCAG -3'

Sequencing Primer
(F):5'- CAGCTGTGAGTCCGAGTCTGTC -3'
(R):5'- AAGCACATGACTGACTTTGTG -3'
Posted On 2014-10-30