Incidental Mutation 'R7154:Taf7'
ID 557181
Institutional Source Beutler Lab
Gene Symbol Taf7
Ensembl Gene ENSMUSG00000051316
Gene Name TATA-box binding protein associated factor 7
Synonyms TAFII55, Taf2f, 55kDa
MMRRC Submission 045256-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7154 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37773544-37777257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37775601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 322 (D322G)
Ref Sequence ENSEMBL: ENSMUSP00000065645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058635] [ENSMUST00000066272] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q9R1C0
Predicted Effect probably benign
Transcript: ENSMUST00000058635
SMART Domains Protein: ENSMUSP00000052849
Gene: ENSMUSG00000050304

DomainStartEndE-ValueType
Pfam:Mito_carr 1 60 5.9e-11 PFAM
Pfam:Mito_carr 67 165 9.5e-20 PFAM
Pfam:Mito_carr 169 262 8.9e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066272
AA Change: D322G

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000065645
Gene: ENSMUSG00000051316
AA Change: D322G

DomainStartEndE-ValueType
TAFII55_N 12 178 4.63e-94 SMART
low complexity region 225 235 N/A INTRINSIC
coiled coil region 237 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E3.5 and E5.5. Mice homozygous for a conditional allele activated in thymocytes exhibit impaired T cell differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030423J24Rik T C 13: 71,032,344 (GRCm39) F139L unknown Het
Adgre1 G A 17: 57,751,087 (GRCm39) probably null Het
Agap2 A G 10: 126,927,524 (GRCm39) D1135G probably benign Het
Akp3 T C 1: 87,052,946 (GRCm39) L45P probably damaging Het
Arfgap3 A T 15: 83,220,905 (GRCm39) W71R probably damaging Het
Asic3 G A 5: 24,618,660 (GRCm39) probably benign Het
Asph A T 4: 9,630,930 (GRCm39) N139K possibly damaging Het
Atr T A 9: 95,747,098 (GRCm39) C127S probably benign Het
Auts2 A T 5: 131,480,731 (GRCm39) S255T Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Cacnb1 A G 11: 97,895,959 (GRCm39) L443P probably damaging Het
Cbfa2t3 G A 8: 123,364,883 (GRCm39) Q300* probably null Het
Ccer1 A T 10: 97,530,201 (GRCm39) D288V unknown Het
Col18a1 G A 10: 76,908,799 (GRCm39) P611S probably benign Het
Cpa6 T A 1: 10,407,694 (GRCm39) D281V possibly damaging Het
Cyp2e1 A G 7: 140,350,050 (GRCm39) Y245C probably damaging Het
Cyp4a31 T C 4: 115,431,963 (GRCm39) probably null Het
Efcab3 T A 11: 104,589,966 (GRCm39) probably null Het
Entpd1 T C 19: 40,713,430 (GRCm39) Y188H probably damaging Het
Epb42 T C 2: 120,863,843 (GRCm39) D111G probably benign Het
Espl1 A G 15: 102,232,484 (GRCm39) D2064G probably damaging Het
Fat3 A C 9: 15,908,160 (GRCm39) V2614G probably damaging Het
Fos A T 12: 85,520,931 (GRCm39) M40L probably benign Het
Frmd4b T A 6: 97,283,707 (GRCm39) E434V probably damaging Het
Galnt6 A T 15: 100,591,345 (GRCm39) D586E probably benign Het
Gapvd1 T C 2: 34,615,075 (GRCm39) K474R probably damaging Het
Gimap8 T A 6: 48,633,122 (GRCm39) F314I probably damaging Het
Gm14393 T G 2: 174,903,576 (GRCm39) K110N probably damaging Het
Gm4131 C A 14: 62,718,382 (GRCm39) A75S probably damaging Het
Heatr6 G A 11: 83,668,067 (GRCm39) V854I probably benign Het
Hic2 T A 16: 17,076,806 (GRCm39) M545K possibly damaging Het
Ift70b C T 2: 75,768,405 (GRCm39) R116H possibly damaging Het
Ip6k1 A G 9: 107,922,861 (GRCm39) Y331C probably damaging Het
Kalrn C T 16: 34,032,527 (GRCm39) probably null Het
Kxd1 T C 8: 70,968,084 (GRCm39) K88E probably damaging Het
Lrrc37a A C 11: 103,393,682 (GRCm39) V581G probably benign Het
Mex3d A T 10: 80,222,584 (GRCm39) V224E Het
Mtx2 T A 2: 74,706,762 (GRCm39) C246S probably damaging Het
Mybbp1a A G 11: 72,338,468 (GRCm39) probably null Het
Myh6 A G 14: 55,197,764 (GRCm39) I458T probably benign Het
Ndufs6 A G 13: 73,468,411 (GRCm39) V96A possibly damaging Het
Nemf A T 12: 69,363,515 (GRCm39) probably null Het
Notch1 T C 2: 26,349,950 (GRCm39) S2397G probably benign Het
Or4c15b A G 2: 89,113,204 (GRCm39) I91T probably damaging Het
Or6ae1 T C 7: 139,741,997 (GRCm39) I289V probably benign Het
Osbpl1a T C 18: 12,901,649 (GRCm39) E619G probably benign Het
Pfkl T C 10: 77,837,289 (GRCm39) R95G probably benign Het
Plat T A 8: 23,268,521 (GRCm39) I391K possibly damaging Het
Ppp1r21 A G 17: 88,862,314 (GRCm39) H244R probably damaging Het
Rapgef3 G C 15: 97,651,758 (GRCm39) H578Q probably benign Het
Rnf145 C A 11: 44,415,822 (GRCm39) N12K probably damaging Het
Sfxn5 C T 6: 85,309,405 (GRCm39) C100Y unknown Het
Sh3rf1 T A 8: 61,825,748 (GRCm39) L581Q possibly damaging Het
Sipa1l2 T C 8: 126,195,078 (GRCm39) K887E probably benign Het
Spopfm2 A G 3: 94,083,526 (GRCm39) I95T probably benign Het
Stard9 C A 2: 120,531,795 (GRCm39) T2684N probably benign Het
Stard9 A C 2: 120,535,023 (GRCm39) Q3760P probably benign Het
Stpg2 A G 3: 138,921,056 (GRCm39) E87G probably benign Het
Syne2 A G 12: 76,106,231 (GRCm39) Q792R possibly damaging Het
Tbc1d1 A G 5: 64,331,156 (GRCm39) S112G possibly damaging Het
Tbx3 A G 5: 119,810,093 (GRCm39) M5V possibly damaging Het
Tmem45b A T 9: 31,339,328 (GRCm39) I215N possibly damaging Het
Tpd52 G A 3: 9,028,916 (GRCm39) Q43* probably null Het
Trpa1 T A 1: 14,952,457 (GRCm39) N858I possibly damaging Het
Ttll5 A G 12: 85,972,538 (GRCm39) D767G probably damaging Het
Vmn2r3 G A 3: 64,194,732 (GRCm39) T62I probably benign Het
Wdr59 A T 8: 112,185,367 (GRCm39) N874K Het
Other mutations in Taf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Taf7 APN 18 37,776,486 (GRCm39) missense probably damaging 1.00
IGL02123:Taf7 APN 18 37,775,533 (GRCm39) intron probably benign
IGL02155:Taf7 APN 18 37,776,564 (GRCm39) start codon destroyed probably null 0.95
IGL02291:Taf7 APN 18 37,776,415 (GRCm39) missense possibly damaging 0.76
R3961:Taf7 UTSW 18 37,776,174 (GRCm39) missense probably benign 0.29
R4590:Taf7 UTSW 18 37,775,784 (GRCm39) missense possibly damaging 0.75
R5629:Taf7 UTSW 18 37,776,555 (GRCm39) missense probably benign
R5982:Taf7 UTSW 18 37,776,498 (GRCm39) missense probably damaging 1.00
R6492:Taf7 UTSW 18 37,776,159 (GRCm39) missense probably damaging 1.00
R6896:Taf7 UTSW 18 37,775,733 (GRCm39) missense possibly damaging 0.88
R6944:Taf7 UTSW 18 37,775,910 (GRCm39) missense probably damaging 1.00
R7174:Taf7 UTSW 18 37,776,053 (GRCm39) missense probably damaging 1.00
R8371:Taf7 UTSW 18 37,776,552 (GRCm39) missense probably damaging 1.00
R9006:Taf7 UTSW 18 37,775,757 (GRCm39) missense probably benign 0.01
R9042:Taf7 UTSW 18 37,776,223 (GRCm39) missense probably damaging 1.00
R9258:Taf7 UTSW 18 37,776,021 (GRCm39) missense probably damaging 1.00
R9707:Taf7 UTSW 18 37,776,053 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCCTACAACAAACCTGTCTATG -3'
(R):5'- AGCTAAATGAATCCGACGAGC -3'

Sequencing Primer
(F):5'- TTTTCTTAAGAATGAAAACCCACCAC -3'
(R):5'- GCTAAATGAATCCGACGAGCAACAC -3'
Posted On 2019-06-26