Incidental Mutation 'R7259:Gtf2f1'
ID 564507
Institutional Source Beutler Lab
Gene Symbol Gtf2f1
Ensembl Gene ENSMUSG00000002658
Gene Name general transcription factor IIF, polypeptide 1
Synonyms 2810405L04Rik
MMRRC Submission 045351-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R7259 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 57310405-57318288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57311562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 283 (D283Y)
Ref Sequence ENSEMBL: ENSMUSP00000002733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002733] [ENSMUST00000002740]
AlphaFold Q3THK3
Predicted Effect probably damaging
Transcript: ENSMUST00000002733
AA Change: D283Y

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000002733
Gene: ENSMUSG00000002658
AA Change: D283Y

DomainStartEndE-ValueType
Pfam:TFIIF_alpha 2 508 2.6e-200 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000002740
SMART Domains Protein: ENSMUSP00000002740
Gene: ENSMUSG00000002664

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TGFB 66 155 1.24e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,620,288 (GRCm39) Y258C probably benign Het
Aebp2 A G 6: 140,579,494 (GRCm39) S244G probably benign Het
Agl A T 3: 116,578,230 (GRCm39) Y495N probably damaging Het
Arhgap33 A G 7: 30,231,625 (GRCm39) V120A probably damaging Het
Asb14 C T 14: 26,625,412 (GRCm39) H256Y probably benign Het
Atp2a2 A G 5: 122,604,132 (GRCm39) Y434H probably benign Het
Atrnl1 C T 19: 57,924,038 (GRCm39) R1268* probably null Het
AW554918 A G 18: 25,422,906 (GRCm39) probably null Het
Canx A G 11: 50,192,643 (GRCm39) W324R probably damaging Het
Col9a1 A G 1: 24,224,424 (GRCm39) E202G unknown Het
Crh C A 3: 19,748,418 (GRCm39) A75S possibly damaging Het
Ctnnal1 T A 4: 56,817,299 (GRCm39) probably null Het
Dmrta2 T A 4: 109,839,104 (GRCm39) S284T possibly damaging Het
Dock1 T C 7: 134,384,477 (GRCm39) V680A probably damaging Het
Duox2 G A 2: 122,125,657 (GRCm39) R317C probably damaging Het
Elmod2 A G 8: 84,048,138 (GRCm39) L108P probably damaging Het
Exoc6b A G 6: 84,825,792 (GRCm39) S540P probably benign Het
Fsip2 C T 2: 82,812,474 (GRCm39) A2931V possibly damaging Het
Gipc2 A T 3: 151,833,693 (GRCm39) I196K probably damaging Het
Gli2 A G 1: 118,764,264 (GRCm39) S1296P probably benign Het
Gm21103 T A 14: 17,482,882 (GRCm39) Q173L probably damaging Het
Gpatch1 A T 7: 34,986,546 (GRCm39) probably null Het
Grm8 G A 6: 27,760,175 (GRCm39) T385I probably null Het
Hcar1 T A 5: 124,017,275 (GRCm39) T139S possibly damaging Het
Hcrtr1 T A 4: 130,029,611 (GRCm39) T157S possibly damaging Het
Htra2 T G 6: 83,028,520 (GRCm39) Q436P possibly damaging Het
Igkv1-133 A G 6: 67,702,522 (GRCm39) D80G probably benign Het
Il21 C A 3: 37,281,803 (GRCm39) probably null Het
Inpp5f T A 7: 128,271,681 (GRCm39) C359S probably benign Het
Itgb6 A T 2: 60,480,355 (GRCm39) I327N probably damaging Het
Itgbl1 A T 14: 124,081,316 (GRCm39) T232S probably damaging Het
Kif1a T A 1: 93,001,532 (GRCm39) K266* probably null Het
Mcm10 C A 2: 5,011,328 (GRCm39) E214D probably benign Het
Mefv T A 16: 3,530,917 (GRCm39) I522F probably damaging Het
Naaladl2 T A 3: 24,112,340 (GRCm39) I581F possibly damaging Het
Naip6 A T 13: 100,440,863 (GRCm39) Y306N probably damaging Het
Opn1sw T A 6: 29,378,911 (GRCm39) H247L probably benign Het
Or4c119 A C 2: 88,986,854 (GRCm39) F222V probably benign Het
Or51v15-ps1 A T 7: 103,278,966 (GRCm39) M67K probably damaging Het
Or5k1b T C 16: 58,580,868 (GRCm39) T224A possibly damaging Het
Or6c68 T A 10: 129,157,663 (GRCm39) M57K probably benign Het
Pbxip1 C A 3: 89,352,940 (GRCm39) F195L probably benign Het
Pcdh12 A T 18: 38,414,677 (GRCm39) F816Y probably benign Het
Pi4k2b C A 5: 52,910,587 (GRCm39) N290K probably damaging Het
Pias2 T C 18: 77,240,416 (GRCm39) S598P possibly damaging Het
Ppfia4 A G 1: 134,240,838 (GRCm39) V835A probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Scg2 T C 1: 79,414,702 (GRCm39) Y7C probably benign Het
Sec16a A G 2: 26,331,604 (GRCm39) V137A probably benign Het
Setdb1 G A 3: 95,247,224 (GRCm39) T525I probably benign Het
Sgcg A T 14: 61,462,666 (GRCm39) I227N probably benign Het
Slc35e4 A T 11: 3,862,530 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Stk10 A G 11: 32,548,497 (GRCm39) N355S probably benign Het
Supt6 A T 11: 78,098,442 (GRCm39) D1716E probably damaging Het
Taok3 C T 5: 117,390,608 (GRCm39) A523V probably benign Het
Tekt3 A G 11: 62,974,592 (GRCm39) T304A possibly damaging Het
Ttc6 G T 12: 57,622,970 (GRCm39) R123L probably benign Het
Tyw1 T A 5: 130,296,713 (GRCm39) probably null Het
Ulk2 A G 11: 61,672,909 (GRCm39) L895P probably damaging Het
Unc13c A T 9: 73,424,645 (GRCm39) N1990K probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wipf1 A G 2: 73,265,425 (GRCm39) S393P probably damaging Het
Yju2b T C 8: 84,986,946 (GRCm39) S184G probably damaging Het
Other mutations in Gtf2f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02737:Gtf2f1 APN 17 57,310,918 (GRCm39) missense possibly damaging 0.86
IGL02752:Gtf2f1 APN 17 57,316,682 (GRCm39) unclassified probably benign
IGL03022:Gtf2f1 APN 17 57,317,971 (GRCm39) splice site probably null
IGL03094:Gtf2f1 APN 17 57,314,049 (GRCm39) missense probably damaging 1.00
R0242:Gtf2f1 UTSW 17 57,310,802 (GRCm39) missense probably benign 0.26
R0242:Gtf2f1 UTSW 17 57,310,802 (GRCm39) missense probably benign 0.26
R0480:Gtf2f1 UTSW 17 57,311,307 (GRCm39) critical splice donor site probably null
R1255:Gtf2f1 UTSW 17 57,317,982 (GRCm39) missense probably damaging 1.00
R2270:Gtf2f1 UTSW 17 57,310,462 (GRCm39) missense probably null 0.00
R4209:Gtf2f1 UTSW 17 57,318,003 (GRCm39) missense probably benign 0.01
R4637:Gtf2f1 UTSW 17 57,311,534 (GRCm39) missense probably benign 0.20
R5102:Gtf2f1 UTSW 17 57,310,626 (GRCm39) missense probably damaging 1.00
R5103:Gtf2f1 UTSW 17 57,311,519 (GRCm39) missense probably damaging 0.97
R6167:Gtf2f1 UTSW 17 57,311,161 (GRCm39) missense probably damaging 1.00
R6707:Gtf2f1 UTSW 17 57,314,770 (GRCm39) missense probably benign 0.00
R7254:Gtf2f1 UTSW 17 57,314,101 (GRCm39) missense possibly damaging 0.85
R7307:Gtf2f1 UTSW 17 57,314,833 (GRCm39) missense probably damaging 1.00
R7683:Gtf2f1 UTSW 17 57,312,458 (GRCm39) missense possibly damaging 0.94
R9727:Gtf2f1 UTSW 17 57,318,005 (GRCm39) missense possibly damaging 0.75
R9765:Gtf2f1 UTSW 17 57,318,125 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TATACTGGCCATCATCGCCC -3'
(R):5'- CTTTTGAGGACAGCGATGATGG -3'

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