Incidental Mutation 'IGL02291:Taf7'
ID 290322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf7
Ensembl Gene ENSMUSG00000051316
Gene Name TATA-box binding protein associated factor 7
Synonyms 55kDa, Taf2f, TAFII55
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02291
Quality Score
Status
Chromosome 18
Chromosomal Location 37640491-37644204 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37643362 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 51 (G51R)
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: G51R

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000065645
Gene: ENSMUSG00000051316
AA Change: G51R

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
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF366264 T A 8: 13,837,704 N129I probably benign Het
Arhgap10 T A 8: 77,382,715 probably benign Het
Cfap161 C T 7: 83,791,639 G135D probably benign Het
Cpne1 A G 2: 156,078,420 V179A probably damaging Het
Cpsf1 A T 15: 76,602,821 I219N probably damaging Het
Creb3l4 T G 3: 90,241,983 R139S probably benign Het
Fer1l4 T C 2: 156,019,538 K1929E probably damaging Het
Gm5431 A G 11: 48,888,964 L655P probably damaging Het
Igsf3 T G 3: 101,439,529 H613Q probably damaging Het
Kcnab1 T C 3: 65,357,082 Y251H possibly damaging Het
Kmt2d T C 15: 98,865,492 probably benign Het
Krt17 A T 11: 100,256,493 V404E probably benign Het
Lipo2 A G 19: 33,745,792 I199T possibly damaging Het
Mks1 T A 11: 87,859,667 probably benign Het
Nlrp1a A T 11: 71,122,589 probably null Het
Nup210 T C 6: 91,101,268 D100G probably damaging Het
Olfr108 G A 17: 37,446,285 V255I possibly damaging Het
Olfr1393 T A 11: 49,280,985 I279N probably damaging Het
Olfr532 A T 7: 140,419,287 L162Q probably damaging Het
Olfr871 T C 9: 20,212,802 I151T probably benign Het
Psmd5 A G 2: 34,857,799 V282A probably benign Het
Rasal3 A T 17: 32,393,737 probably benign Het
Rnf10 T C 5: 115,260,196 N93D probably damaging Het
Slc7a9 G A 7: 35,457,014 G294R probably damaging Het
Tas2r126 G A 6: 42,435,287 M251I probably benign Het
Trim33 T C 3: 103,326,865 F473S probably damaging Het
Vmn1r127 A G 7: 21,319,074 L263P possibly damaging Het
Vmn1r234 G A 17: 21,228,931 V36I probably benign Het
Vmn2r84 T A 10: 130,390,748 H407L probably damaging Het
Other mutations in Taf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Taf7 APN 18 37643433 missense probably damaging 1.00
IGL02123:Taf7 APN 18 37642480 intron probably benign
IGL02155:Taf7 APN 18 37643511 start codon destroyed probably null 0.95
R3961:Taf7 UTSW 18 37643121 missense probably benign 0.29
R4590:Taf7 UTSW 18 37642731 missense possibly damaging 0.75
R5629:Taf7 UTSW 18 37643502 missense probably benign
R5982:Taf7 UTSW 18 37643445 missense probably damaging 1.00
R6492:Taf7 UTSW 18 37643106 missense probably damaging 1.00
R6896:Taf7 UTSW 18 37642680 missense possibly damaging 0.88
R6944:Taf7 UTSW 18 37642857 missense probably damaging 1.00
R7154:Taf7 UTSW 18 37642548 missense possibly damaging 0.57
R7174:Taf7 UTSW 18 37643000 missense probably damaging 1.00
R8371:Taf7 UTSW 18 37643499 missense probably damaging 1.00
R9006:Taf7 UTSW 18 37642704 missense probably benign 0.01
R9042:Taf7 UTSW 18 37643170 missense probably damaging 1.00
R9258:Taf7 UTSW 18 37642968 missense probably damaging 1.00
R9707:Taf7 UTSW 18 37643000 missense probably damaging 1.00
Posted On 2015-04-16