Incidental Mutation 'R3689:Taf7l'
ID 269698
Institutional Source Beutler Lab
Gene Symbol Taf7l
Ensembl Gene ENSMUSG00000009596
Gene Name TATA-box binding protein associated factor 7 like
Synonyms Taf2q, 4933438I11Rik
MMRRC Submission 040684-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.396) question?
Stock # R3689 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 133360867-133377239 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133365074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 449 (I449K)
Ref Sequence ENSEMBL: ENSMUSP00000009740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009740] [ENSMUST00000113223]
AlphaFold Q9D3R9
Predicted Effect probably damaging
Transcript: ENSMUST00000009740
AA Change: I449K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000009740
Gene: ENSMUSG00000009596
AA Change: I449K

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
TAFII55_N 106 286 2.05e-86 SMART
SCOP:d1qbkb_ 341 470 1e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113223
AA Change: I328K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108849
Gene: ENSMUSG00000009596
AA Change: I328K

DomainStartEndE-ValueType
Pfam:TAFII55_N 21 111 7.2e-36 PFAM
Pfam:TAFII55_N 108 165 1.4e-12 PFAM
low complexity region 220 258 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Targeted inactivation of this gene causes male subfertility, oligozoospermia, teratozoospermia, athenozoospermia, abnormal seminiferous tubules, and reduced testis weight on congenic but not on mixed strain backgrounds. Decreased brown fat tissue amount and enhanced skeletal muscle formation are also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A T 13: 68,779,088 (GRCm39) L984Q probably damaging Het
Atg16l1 T C 1: 87,713,626 (GRCm39) V427A probably damaging Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Blm G C 7: 80,162,827 (GRCm39) P175A possibly damaging Het
Bpifb1 A G 2: 154,051,819 (GRCm39) D208G probably benign Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cep162 G A 9: 87,107,747 (GRCm39) Q548* probably null Het
Chchd10 T C 10: 75,771,835 (GRCm39) probably benign Het
Cog3 T C 14: 75,991,878 (GRCm39) M1V probably null Het
Dcx T C X: 142,660,240 (GRCm39) E268G possibly damaging Het
Erich2 T C 2: 70,371,097 (GRCm39) V419A unknown Het
Fam53c A G 18: 34,903,886 (GRCm39) D386G probably damaging Het
Fgd2 A G 17: 29,597,924 (GRCm39) T620A probably benign Het
G930045G22Rik A T 6: 50,823,535 (GRCm39) noncoding transcript Het
Grpel1 G A 5: 36,626,769 (GRCm39) probably null Het
Map3k15 T A X: 158,905,568 (GRCm39) N1295K possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Mtss1 A G 15: 58,825,385 (GRCm39) S272P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
N4bp1 C T 8: 87,587,184 (GRCm39) D585N probably damaging Het
Napb T C 2: 148,544,977 (GRCm39) probably null Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Niban1 A G 1: 151,579,447 (GRCm39) probably null Het
Nms T C 1: 38,986,075 (GRCm39) probably benign Het
Nsun2 A G 13: 69,760,456 (GRCm39) N45D probably damaging Het
Or4c116 T A 2: 88,942,386 (GRCm39) I157L possibly damaging Het
Pak6 C T 2: 118,523,921 (GRCm39) Q359* probably null Het
Pcdhb12 C T 18: 37,569,127 (GRCm39) A91V probably benign Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Plscr1l1 A C 9: 92,234,673 (GRCm39) N60T probably damaging Het
Sec31a T A 5: 100,530,766 (GRCm39) D239V probably damaging Het
Slc13a4 T C 6: 35,245,845 (GRCm39) N600S possibly damaging Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Sprr2j-ps A G 3: 92,326,290 (GRCm39) H55R probably benign Het
Srsf9 A G 5: 115,465,387 (GRCm39) D7G probably benign Het
Stt3a T C 9: 36,670,618 (GRCm39) Y51C probably damaging Het
Taf5 A G 19: 47,067,224 (GRCm39) K519E probably damaging Het
Tnk1 C A 11: 69,746,425 (GRCm39) D263Y probably damaging Het
Ttc21b T A 2: 66,054,488 (GRCm39) I714F probably benign Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Txn1 T C 4: 57,950,846 (GRCm39) D61G probably benign Het
Ugcg T C 4: 59,211,883 (GRCm39) V83A probably benign Het
Ulk3 T C 9: 57,501,077 (GRCm39) V348A probably benign Het
Wdr93 A G 7: 79,421,333 (GRCm39) T409A possibly damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Zap70 T C 1: 36,820,493 (GRCm39) C563R probably damaging Het
Zc3h12c C T 9: 52,027,256 (GRCm39) R721H probably benign Het
Zfp169 A G 13: 48,660,377 (GRCm39) probably benign Het
Other mutations in Taf7l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3690:Taf7l UTSW X 133,365,074 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTGAATGAACAGACTTTGG -3'
(R):5'- TGCAGCATGTAGACATTTCACC -3'

Sequencing Primer
(F):5'- GGAAAGGATCTTGATCTACCCTGC -3'
(R):5'- ACAAGAAAACATGCTTTAGAGAGTAC -3'
Posted On 2015-02-19