Incidental Mutation 'R6128:Gtf2a1l'
ID 487549
Institutional Source Beutler Lab
Gene Symbol Gtf2a1l
Ensembl Gene ENSMUSG00000024154
Gene Name general transcription factor IIA, 1-like
Synonyms Gtf2a1lf, 1700011N16Rik, Alf
MMRRC Submission 044275-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.650) question?
Stock # R6128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 88976088-89022580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89002086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 314 (V314E)
Ref Sequence ENSEMBL: ENSMUSP00000024970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024970] [ENSMUST00000161481]
AlphaFold Q8R4I4
Predicted Effect probably null
Transcript: ENSMUST00000024970
AA Change: V314E

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024970
Gene: ENSMUSG00000024154
AA Change: V314E

DomainStartEndE-ValueType
TFIIA 9 468 6.87e-202 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161481
SMART Domains Protein: ENSMUSP00000124286
Gene: ENSMUSG00000024154

DomainStartEndE-ValueType
Pfam:TFIIA 9 76 3.2e-29 PFAM
Pfam:TFIIA 70 243 3e-13 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
A430033K04Rik A G 5: 138,646,038 (GRCm39) H641R probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Asah1 C T 8: 41,807,092 (GRCm39) V111M probably damaging Het
Ascc3 T C 10: 50,526,734 (GRCm39) L611P probably damaging Het
Atl2 C A 17: 80,172,470 (GRCm39) probably null Het
Bhlhe22 A T 3: 18,109,987 (GRCm39) S346C probably damaging Het
Bicc1 T C 10: 70,776,313 (GRCm39) probably null Het
Bptf G T 11: 106,965,516 (GRCm39) A1163D possibly damaging Het
Bub1b T A 2: 118,448,293 (GRCm39) C382S probably benign Het
Carmil1 A T 13: 24,197,177 (GRCm39) Y158* probably null Het
Ccdc175 A T 12: 72,175,933 (GRCm39) I473K probably benign Het
Ccdc18 A G 5: 108,311,625 (GRCm39) I444V possibly damaging Het
Cep131 T A 11: 119,956,801 (GRCm39) I880F probably damaging Het
Ces2e T A 8: 105,655,428 (GRCm39) I117N probably benign Het
Clk2 C T 3: 89,081,531 (GRCm39) T289M probably damaging Het
Crocc2 A T 1: 93,122,123 (GRCm39) D672V probably benign Het
Cul7 T A 17: 46,962,588 (GRCm39) I73N probably damaging Het
Cyp2d12 C A 15: 82,443,166 (GRCm39) D358E probably benign Het
Cyp7a1 A G 4: 6,272,788 (GRCm39) S142P possibly damaging Het
Daw1 T A 1: 83,183,647 (GRCm39) C232* probably null Het
Dhx9 T C 1: 153,353,835 (GRCm39) K195R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpp3 A G 19: 4,972,420 (GRCm39) V168A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ercc6l2 T C 13: 64,001,563 (GRCm39) V459A probably damaging Het
Erp44 A T 4: 48,243,493 (GRCm39) N38K probably damaging Het
Fam135a A G 1: 24,069,821 (GRCm39) probably null Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fdps T C 3: 89,006,740 (GRCm39) E117G possibly damaging Het
Gbp4 A C 5: 105,283,030 (GRCm39) V80G possibly damaging Het
Glt1d1 A T 5: 127,754,335 (GRCm39) D179V probably damaging Het
Gzmf G T 14: 56,443,443 (GRCm39) Y178* probably null Het
Hira C T 16: 18,751,727 (GRCm39) P509S probably benign Het
Ifi44 T C 3: 151,454,823 (GRCm39) N134S probably benign Het
Igfbp2 T A 1: 72,863,958 (GRCm39) C74S probably damaging Het
Il24 A G 1: 130,813,435 (GRCm39) L54P probably damaging Het
Ints10 T C 8: 69,274,904 (GRCm39) probably null Het
Ipo9 A G 1: 135,318,311 (GRCm39) C700R possibly damaging Het
Kalrn T A 16: 34,033,255 (GRCm39) Q469L probably damaging Het
Lrp1b T G 2: 40,750,667 (GRCm39) I2966L probably benign Het
Lta C A 17: 35,422,817 (GRCm39) V169L possibly damaging Het
Lyst T C 13: 13,933,964 (GRCm39) V3554A possibly damaging Het
Mobp A G 9: 119,997,392 (GRCm39) probably benign Het
Myorg T A 4: 41,498,445 (GRCm39) N395I probably damaging Het
Or10d1 C G 9: 39,484,549 (GRCm39) R2T probably benign Het
Or4b1d A T 2: 89,968,954 (GRCm39) C176* probably null Het
Or8c14-ps1 T C 9: 38,101,299 (GRCm39) S93P probably benign Het
Pacs1 A T 19: 5,202,400 (GRCm39) probably null Het
Phf21a G T 2: 92,181,953 (GRCm39) probably null Het
Pick1 T A 15: 79,123,896 (GRCm39) M89K probably damaging Het
Pik3cb T C 9: 98,946,152 (GRCm39) D558G possibly damaging Het
Pnma8a A G 7: 16,694,661 (GRCm39) D172G probably benign Het
Polr2a A C 11: 69,627,803 (GRCm39) V1368G probably damaging Het
Pomt2 A G 12: 87,158,109 (GRCm39) probably null Het
Pou2f1 T C 1: 165,703,056 (GRCm39) probably benign Het
Rnf145 T C 11: 44,446,018 (GRCm39) V284A probably damaging Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr3 C T 2: 112,784,639 (GRCm39) probably null Het
Scamp1 A C 13: 94,344,735 (GRCm39) L202R possibly damaging Het
Snx25 C T 8: 46,558,240 (GRCm39) V110I probably benign Het
Spata31e2 G A 1: 26,724,506 (GRCm39) P225S probably benign Het
Susd6 T A 12: 80,915,388 (GRCm39) H124Q possibly damaging Het
Tarm1 T C 7: 3,537,720 (GRCm39) T248A probably benign Het
Tc2n A G 12: 101,675,748 (GRCm39) M1T probably null Het
Tcerg1 C A 18: 42,644,563 (GRCm39) probably null Het
Ticrr C A 7: 79,343,716 (GRCm39) P1194T probably damaging Het
Trim31 T G 17: 37,220,491 (GRCm39) V469G probably benign Het
Vcp T C 4: 42,980,941 (GRCm39) E723G probably benign Het
Vmn1r177 C A 7: 23,565,267 (GRCm39) S203I probably damaging Het
Vmn1r177 T A 7: 23,565,268 (GRCm39) S203C probably damaging Het
Vmn1r210 A T 13: 23,012,277 (GRCm39) L3* probably null Het
Wdr27 T A 17: 15,152,796 (GRCm39) R104* probably null Het
Wnk1 A C 6: 119,940,747 (GRCm39) probably null Het
Zfp157 A G 5: 138,453,281 (GRCm39) E88G possibly damaging Het
Zfp708 A T 13: 67,222,965 (GRCm39) L22Q probably damaging Het
Zfp788 T C 7: 41,299,785 (GRCm39) F787S probably damaging Het
Other mutations in Gtf2a1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Gtf2a1l APN 17 89,001,723 (GRCm39) missense probably damaging 1.00
IGL00928:Gtf2a1l APN 17 89,001,890 (GRCm39) missense probably benign 0.09
IGL00974:Gtf2a1l APN 17 89,022,377 (GRCm39) missense probably damaging 1.00
IGL01024:Gtf2a1l APN 17 88,978,719 (GRCm39) missense probably damaging 1.00
IGL02429:Gtf2a1l APN 17 88,976,141 (GRCm39) start codon destroyed probably null 0.61
IGL02658:Gtf2a1l APN 17 88,976,146 (GRCm39) missense probably benign 0.01
IGL03377:Gtf2a1l APN 17 89,019,021 (GRCm39) missense probably benign 0.03
R0848:Gtf2a1l UTSW 17 89,001,657 (GRCm39) missense probably damaging 0.99
R0899:Gtf2a1l UTSW 17 88,976,152 (GRCm39) missense
R1435:Gtf2a1l UTSW 17 89,001,743 (GRCm39) missense probably damaging 1.00
R1716:Gtf2a1l UTSW 17 89,002,008 (GRCm39) missense probably benign 0.06
R1861:Gtf2a1l UTSW 17 89,022,382 (GRCm39) missense probably damaging 1.00
R2301:Gtf2a1l UTSW 17 89,018,900 (GRCm39) missense probably benign
R2906:Gtf2a1l UTSW 17 89,002,083 (GRCm39) missense possibly damaging 0.92
R4281:Gtf2a1l UTSW 17 89,019,065 (GRCm39) missense possibly damaging 0.95
R4289:Gtf2a1l UTSW 17 89,001,884 (GRCm39) missense probably damaging 0.98
R4771:Gtf2a1l UTSW 17 88,997,448 (GRCm39) missense probably benign 0.23
R4904:Gtf2a1l UTSW 17 88,997,471 (GRCm39) critical splice donor site probably null
R4941:Gtf2a1l UTSW 17 89,022,350 (GRCm39) missense probably damaging 1.00
R5106:Gtf2a1l UTSW 17 89,002,073 (GRCm39) missense possibly damaging 0.95
R6003:Gtf2a1l UTSW 17 89,001,531 (GRCm39) missense probably damaging 1.00
R6035:Gtf2a1l UTSW 17 89,018,962 (GRCm39) missense probably benign 0.00
R6035:Gtf2a1l UTSW 17 89,018,962 (GRCm39) missense probably benign 0.00
R6246:Gtf2a1l UTSW 17 88,978,975 (GRCm39) missense probably benign 0.09
R6481:Gtf2a1l UTSW 17 89,019,053 (GRCm39) missense probably benign 0.09
R7344:Gtf2a1l UTSW 17 89,001,531 (GRCm39) missense probably damaging 1.00
R7462:Gtf2a1l UTSW 17 89,001,566 (GRCm39) missense possibly damaging 0.77
R8712:Gtf2a1l UTSW 17 89,022,351 (GRCm39) missense probably damaging 1.00
R8849:Gtf2a1l UTSW 17 89,001,566 (GRCm39) missense possibly damaging 0.77
R9178:Gtf2a1l UTSW 17 88,976,152 (GRCm39) missense
R9407:Gtf2a1l UTSW 17 89,001,531 (GRCm39) missense probably damaging 1.00
R9569:Gtf2a1l UTSW 17 89,001,948 (GRCm39) missense probably benign
R9760:Gtf2a1l UTSW 17 89,019,020 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCAGGAAAGCTCTCCATACC -3'
(R):5'- GCCCTAACTCAAACTGACATTTG -3'

Sequencing Primer
(F):5'- TCTGACAGAGTCTAGCCTGGAG -3'
(R):5'- GACATTTGCAACTAGCCGTG -3'
Posted On 2017-10-10