Incidental Mutation 'IGL01510:Gtf2a1'
ID89183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2a1
Ensembl Gene ENSMUSG00000020962
Gene Namegeneral transcription factor II A, 1
SynonymsTfiia1, TfIIAa/b, 19kDa, 37kDa, 6330549H03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01510
Quality Score
Status
Chromosome12
Chromosomal Location91555262-91590487 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91567833 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 216 (S216P)
Ref Sequence ENSEMBL: ENSMUSP00000021345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021345] [ENSMUST00000063314]
Predicted Effect probably benign
Transcript: ENSMUST00000021345
AA Change: S216P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021345
Gene: ENSMUSG00000020962
AA Change: S216P

DomainStartEndE-ValueType
TFIIA 12 378 5.47e-146 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063314
AA Change: S177P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068562
Gene: ENSMUSG00000020962
AA Change: S177P

DomainStartEndE-ValueType
Pfam:TFIIA 1 339 9.3e-68 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele where D/G cleavage residues are replaced with noncleavable A/A show neonatal lethality, feeding defects, low testis weight, and male infertility associated with azoospermia, small seminiferous tubules, lack of elongating spermatids, and increased apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,143,979 Q6R probably damaging Het
Adam5 A T 8: 24,804,465 C373S probably damaging Het
Adgre4 T C 17: 55,818,760 probably null Het
Akap10 A T 11: 61,878,020 M614K possibly damaging Het
Amigo2 T C 15: 97,245,081 T487A probably benign Het
Asap1 T C 15: 64,158,928 D300G probably damaging Het
Atp4a C A 7: 30,720,791 L788M probably benign Het
Bcl3 T A 7: 19,809,614 H309L probably damaging Het
Cblc T C 7: 19,785,275 N376S probably benign Het
Cd200r2 A T 16: 44,909,311 I110L probably benign Het
Ceacam3 T C 7: 17,159,842 M426T probably benign Het
Cep295 G A 9: 15,354,626 R29* probably null Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ctps G T 4: 120,558,844 T194K probably damaging Het
Cul3 A G 1: 80,282,679 S318P probably damaging Het
Fasl A T 1: 161,781,953 S155T possibly damaging Het
Gldc C T 19: 30,113,721 probably null Het
Gpr21 T A 2: 37,518,421 C326* probably null Het
Hoxb5 A T 11: 96,303,992 S127C possibly damaging Het
Htt A T 5: 34,907,512 Q3023L probably damaging Het
Kalrn T A 16: 34,235,330 H855L possibly damaging Het
Lars T C 18: 42,242,109 I289V probably benign Het
Lrig3 C A 10: 126,008,698 T677K probably damaging Het
Mapk7 A T 11: 61,491,160 W309R probably damaging Het
Mmp12 A G 9: 7,358,307 T468A possibly damaging Het
Muc5b A T 7: 141,859,061 N1915Y unknown Het
Naprt A G 15: 75,890,988 probably benign Het
Nfatc1 T C 18: 80,698,188 Y199C probably damaging Het
Olfr857 A T 9: 19,713,279 I151F probably benign Het
Olfr919 T C 9: 38,697,905 I158V probably benign Het
Phip T A 9: 82,913,871 I566F probably benign Het
Pnpla3 T A 15: 84,171,072 probably benign Het
Ptpn13 C T 5: 103,562,300 T1567I probably damaging Het
Ptpn20 A G 14: 33,638,386 probably null Het
Ptprq G T 10: 107,712,048 T163K probably damaging Het
Slc8a1 A G 17: 81,648,365 C415R probably damaging Het
Slco4c1 A G 1: 96,867,953 S127P probably damaging Het
Tcerg1l A T 7: 138,394,305 probably benign Het
Thbd C T 2: 148,406,974 V325M probably damaging Het
Trim37 G A 11: 87,177,860 R344H probably damaging Het
Ttn T C 2: 76,872,765 probably benign Het
Uvrag G A 7: 99,004,589 Q65* probably null Het
Wrap53 G A 11: 69,562,740 S342L possibly damaging Het
Zbtb11 T G 16: 55,990,343 V288G probably damaging Het
Other mutations in Gtf2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02561:Gtf2a1 APN 12 91575753 missense possibly damaging 0.93
IGL03035:Gtf2a1 APN 12 91572637 splice site probably benign
PIT4618001:Gtf2a1 UTSW 12 91567769 missense probably benign 0.09
R0436:Gtf2a1 UTSW 12 91568273 splice site probably null
R1595:Gtf2a1 UTSW 12 91589549 missense probably damaging 0.98
R2240:Gtf2a1 UTSW 12 91586739 missense possibly damaging 0.87
R4020:Gtf2a1 UTSW 12 91572577 missense possibly damaging 0.92
R4043:Gtf2a1 UTSW 12 91575667 missense probably benign 0.00
R4044:Gtf2a1 UTSW 12 91575667 missense probably benign 0.00
R4095:Gtf2a1 UTSW 12 91575637 missense possibly damaging 0.68
R4584:Gtf2a1 UTSW 12 91562926 missense possibly damaging 0.66
R4585:Gtf2a1 UTSW 12 91562926 missense possibly damaging 0.66
R4952:Gtf2a1 UTSW 12 91575749 missense possibly damaging 0.70
R5465:Gtf2a1 UTSW 12 91567791 missense possibly damaging 0.86
R5566:Gtf2a1 UTSW 12 91567594 missense possibly damaging 0.63
R7055:Gtf2a1 UTSW 12 91586749 missense possibly damaging 0.93
R7220:Gtf2a1 UTSW 12 91567724 missense probably benign 0.00
R7282:Gtf2a1 UTSW 12 91567835 missense possibly damaging 0.56
R7459:Gtf2a1 UTSW 12 91575652 missense probably benign 0.00
R7484:Gtf2a1 UTSW 12 91562973 missense probably benign 0.01
X0063:Gtf2a1 UTSW 12 91572612 missense possibly damaging 0.91
Posted On2013-12-03