Incidental Mutation 'R3690:Taf7l'
ID 269754
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 040685-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.396) question?
Stock # R3690 (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: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,091,328 (GRCm39) Y629F probably benign Het
Abcb5 T A 12: 118,836,668 (GRCm39) D1081V probably damaging Het
Afdn A G 17: 14,108,671 (GRCm39) E1398G probably damaging Het
Atp8b5 T C 4: 43,368,055 (GRCm39) C893R probably damaging Het
Avl9 C T 6: 56,713,812 (GRCm39) H357Y probably benign Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Btbd19 A T 4: 116,977,789 (GRCm39) probably benign Het
Cap1 A G 4: 122,758,419 (GRCm39) S254P probably damaging Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cln6 T C 9: 62,754,252 (GRCm39) I98T possibly damaging Het
Cul9 T C 17: 46,814,957 (GRCm39) probably null Het
Dcx T C X: 142,660,240 (GRCm39) E268G possibly damaging Het
Ddias G A 7: 92,509,366 (GRCm39) P183L probably benign Het
Dnase2b A T 3: 146,299,326 (GRCm39) Y42* probably null Het
Dusp16 C T 6: 134,738,082 (GRCm39) probably benign Het
Egfr T C 11: 16,821,881 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,227,393 (GRCm39) V842A probably benign Het
Folr1 T C 7: 101,507,745 (GRCm39) S232G probably benign Het
Foxj3 T C 4: 119,473,839 (GRCm39) probably benign Het
Fpr-rs6 T C 17: 20,403,137 (GRCm39) M75V probably benign Het
Fxyd5 G T 7: 30,735,864 (GRCm39) L128M possibly damaging Het
Gigyf2 T C 1: 87,349,238 (GRCm39) S500P possibly damaging Het
Inppl1 A G 7: 101,481,275 (GRCm39) L268P probably damaging Het
Klk1b24 A T 7: 43,841,243 (GRCm39) H192L probably benign Het
Llgl1 T G 11: 60,597,828 (GRCm39) Y316D probably damaging Het
Lmbrd1 T A 1: 24,801,374 (GRCm39) *143R probably null Het
Map3k15 T A X: 158,905,568 (GRCm39) N1295K possibly damaging Het
Mcm3ap A G 10: 76,318,513 (GRCm39) E678G probably damaging Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Nav1 T A 1: 135,395,382 (GRCm39) I996L probably benign Het
Neb T C 2: 52,027,397 (GRCm39) E6868G probably damaging Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Nup50 C T 15: 84,823,994 (GRCm39) T449M probably damaging Het
Or14a256 G A 7: 86,265,686 (GRCm39) P56S probably damaging Het
Or2b6 A G 13: 21,823,508 (GRCm39) F62L probably damaging Het
Or51aa2 T C 7: 103,188,274 (GRCm39) T56A probably benign Het
Or52e8b A G 7: 104,673,902 (GRCm39) L95P probably damaging Het
Or52n2 T C 7: 104,542,724 (GRCm39) Y37C possibly damaging Het
Pald1 A T 10: 61,191,587 (GRCm39) probably null Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Ric3 A G 7: 108,637,817 (GRCm39) V312A possibly damaging Het
Scaper C T 9: 55,791,205 (GRCm39) G231D probably benign Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Smcr8 A G 11: 60,668,854 (GRCm39) M1V probably null Het
Smtn T C 11: 3,477,687 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Tex47 A G 5: 7,354,777 (GRCm39) probably benign Het
Tram2 T A 1: 21,075,824 (GRCm39) Y198F probably damaging Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Ube3a A G 7: 58,926,547 (GRCm39) K442E probably damaging Het
Vmn2r116 T A 17: 23,603,798 (GRCm39) F8I unknown Het
Vmn2r59 A G 7: 41,661,370 (GRCm39) F815S possibly damaging Het
Zap70 T C 1: 36,820,493 (GRCm39) C563R probably damaging Het
Zfp579 T C 7: 4,997,719 (GRCm39) H64R probably damaging Het
Other mutations in Taf7l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3689: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