Incidental Mutation 'IGL02613:Btf3'
ID 300573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btf3
Ensembl Gene ENSMUSG00000021660
Gene Name basic transcription factor 3
Synonyms 1700054E11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02613
Quality Score
Status
Chromosome 13
Chromosomal Location 98446405-98453514 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 98446714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022163] [ENSMUST00000134542] [ENSMUST00000152704] [ENSMUST00000180066] [ENSMUST00000180188] [ENSMUST00000186911]
AlphaFold Q64152
Predicted Effect probably benign
Transcript: ENSMUST00000022163
SMART Domains Protein: ENSMUSP00000022163
Gene: ENSMUSG00000021660

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Pfam:NAC 83 139 6.2e-30 PFAM
low complexity region 182 193 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133826
Predicted Effect probably benign
Transcript: ENSMUST00000134542
SMART Domains Protein: ENSMUSP00000115500
Gene: ENSMUSG00000021660

DomainStartEndE-ValueType
Pfam:NAC 41 98 1.9e-26 PFAM
low complexity region 140 151 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152704
SMART Domains Protein: ENSMUSP00000118093
Gene: ENSMUSG00000021660

DomainStartEndE-ValueType
Pfam:NAC 41 98 1.9e-26 PFAM
low complexity region 140 151 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180066
Predicted Effect probably benign
Transcript: ENSMUST00000180188
Predicted Effect probably benign
Transcript: ENSMUST00000186911
SMART Domains Protein: ENSMUSP00000139945
Gene: ENSMUSG00000096330

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LDLa 52 91 1.4e-9 SMART
LDLa 98 136 3.4e-4 SMART
LDLa 141 175 9.2e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
PHENOTYPE: A gene trap insertional mutation results in homozygous embryonic lethality shortly after implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,655,833 (GRCm39) I549L possibly damaging Het
Arhgef17 A T 7: 100,578,103 (GRCm39) H948Q probably damaging Het
Auh A G 13: 53,073,035 (GRCm39) probably null Het
Capg A G 6: 72,532,594 (GRCm39) N53S probably damaging Het
Cfap70 T C 14: 20,459,132 (GRCm39) probably null Het
Chrna5 A T 9: 54,913,705 (GRCm39) E417V probably damaging Het
Coch A G 12: 51,642,132 (GRCm39) T35A possibly damaging Het
Dock4 T A 12: 40,860,465 (GRCm39) L1284M probably damaging Het
Etv3 A G 3: 87,443,702 (GRCm39) T429A possibly damaging Het
Fmnl2 T C 2: 52,963,747 (GRCm39) probably null Het
Glb1 A G 9: 114,293,130 (GRCm39) T502A possibly damaging Het
Greb1 C A 12: 16,789,889 (GRCm39) probably null Het
Hspg2 A G 4: 137,271,731 (GRCm39) Y2499C probably damaging Het
Kcnq1 A T 7: 142,979,863 (GRCm39) probably benign Het
Lrriq1 A G 10: 102,980,409 (GRCm39) S1497P probably damaging Het
Magel2 G A 7: 62,029,946 (GRCm39) R950H unknown Het
Mcc A G 18: 44,563,021 (GRCm39) L982P probably damaging Het
Naif1 T A 2: 32,345,172 (GRCm39) M292K possibly damaging Het
Npb T A 11: 120,499,716 (GRCm39) C99S probably damaging Het
Obscn G T 11: 58,892,958 (GRCm39) R6763S probably benign Het
Or13a21 A G 7: 139,999,383 (GRCm39) V101A probably benign Het
Or5p56 C T 7: 107,590,381 (GRCm39) Q270* probably null Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pitpnm3 A T 11: 71,948,898 (GRCm39) S736T probably damaging Het
Polr1a A T 6: 71,944,304 (GRCm39) E1257V probably damaging Het
Sec63 G A 10: 42,677,703 (GRCm39) D270N probably damaging Het
Snrnp200 C T 2: 127,060,346 (GRCm39) T530I probably damaging Het
Sorbs1 A T 19: 40,315,991 (GRCm39) N383K probably damaging Het
Syk G A 13: 52,797,076 (GRCm39) G546R probably damaging Het
Tfap2d T A 1: 19,189,415 (GRCm39) L265Q probably damaging Het
Trav12-1 C T 14: 53,775,742 (GRCm39) S9L possibly damaging Het
Trerf1 T C 17: 47,659,766 (GRCm39) noncoding transcript Het
Ttn T A 2: 76,558,704 (GRCm39) I29726L possibly damaging Het
Usp18 A G 6: 121,238,049 (GRCm39) T143A probably benign Het
Usp32 A T 11: 84,930,896 (GRCm39) N511K probably damaging Het
Wdr64 C T 1: 175,594,613 (GRCm39) Q4* probably null Het
Zfp277 A G 12: 40,379,514 (GRCm39) F340S probably damaging Het
Other mutations in Btf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1726:Btf3 UTSW 13 98,452,804 (GRCm39) start codon destroyed probably null 0.01
R1740:Btf3 UTSW 13 98,452,804 (GRCm39) start codon destroyed probably null 0.01
R1741:Btf3 UTSW 13 98,452,804 (GRCm39) start codon destroyed probably null 0.01
R1742:Btf3 UTSW 13 98,452,804 (GRCm39) start codon destroyed probably null 0.01
R2096:Btf3 UTSW 13 98,449,659 (GRCm39) missense possibly damaging 0.94
R3106:Btf3 UTSW 13 98,447,496 (GRCm39) missense probably benign 0.01
R4571:Btf3 UTSW 13 98,449,792 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16