Incidental Mutation 'R4209:Gtf2f1'
ID 319091
Institutional Source Beutler Lab
Gene Symbol Gtf2f1
Ensembl Gene ENSMUSG00000002658
Gene Name general transcription factor IIF, polypeptide 1
Synonyms 2810405L04Rik
MMRRC Submission 041038-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R4209 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57310405-57318288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57318003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 11 (V11A)
Ref Sequence ENSEMBL: ENSMUSP00000002733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002733] [ENSMUST00000210548]
AlphaFold Q3THK3
Predicted Effect probably benign
Transcript: ENSMUST00000002733
AA Change: V11A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000002733
Gene: ENSMUSG00000002658
AA Change: V11A

DomainStartEndE-ValueType
Pfam:TFIIF_alpha 2 508 2.6e-200 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210548
Meta Mutation Damage Score 0.1173 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,577 (GRCm39) Y350F probably damaging Het
Ahnak G A 19: 8,979,964 (GRCm39) G416D probably damaging Het
Ap3b2 C A 7: 81,126,884 (GRCm39) A289S probably benign Het
Arhgap23 C A 11: 97,345,322 (GRCm39) T657K probably damaging Het
Bcl9 A G 3: 97,117,269 (GRCm39) L475P probably damaging Het
Bean1 T A 8: 104,940,566 (GRCm39) M1K probably null Het
Cand1 T A 10: 119,047,463 (GRCm39) I676F probably benign Het
Casp3 G T 8: 47,088,423 (GRCm39) D107Y probably damaging Het
Cops4 T A 5: 100,695,352 (GRCm39) probably benign Het
Dchs1 A T 7: 105,415,397 (GRCm39) D626E probably damaging Het
Dpysl2 T C 14: 67,052,926 (GRCm39) S308G probably damaging Het
Fezf1 T C 6: 23,246,616 (GRCm39) K323E probably damaging Het
Gm10272 T C 10: 77,542,665 (GRCm39) V69A possibly damaging Het
Hnf4a T C 2: 163,410,809 (GRCm39) S378P probably benign Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Irf8 T A 8: 121,480,208 (GRCm39) Y149N probably damaging Het
Kel C T 6: 41,675,359 (GRCm39) W297* probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mcpt8 G A 14: 56,321,375 (GRCm39) H30Y probably damaging Het
Mycl G T 4: 122,893,715 (GRCm39) V172L possibly damaging Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Ppp2r2a A G 14: 67,266,328 (GRCm39) L111S probably damaging Het
Prdm2 T C 4: 142,861,007 (GRCm39) D761G probably damaging Het
Sec11a A T 7: 80,584,790 (GRCm39) I49N probably damaging Het
Sesn3 T C 9: 14,217,505 (GRCm39) I30T probably benign Het
Slc22a21 A G 11: 53,846,881 (GRCm39) S331P probably benign Het
Slc38a3 T G 9: 107,532,547 (GRCm39) S358R possibly damaging Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Spns2 T C 11: 72,345,012 (GRCm39) D492G probably benign Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tdp1 C A 12: 99,864,588 (GRCm39) A243E probably damaging Het
Tex16 T A X: 111,030,640 (GRCm39) D1046E probably benign Het
Tmem120a T C 5: 135,764,559 (GRCm39) N340S probably benign Het
Tnik A T 3: 28,413,214 (GRCm39) probably benign Het
Trim36 A G 18: 46,329,191 (GRCm39) L71P probably benign Het
Tube1 A G 10: 39,020,930 (GRCm39) probably null Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Veph1 A T 3: 66,151,967 (GRCm39) L154Q probably damaging Het
Vmn1r113 T C 7: 20,521,535 (GRCm39) V109A probably benign Het
Vmn1r152 A T 7: 22,223,004 (GRCm39) T205S possibly damaging Het
Wdsub1 G A 2: 59,707,149 (GRCm39) P28S probably damaging Het
Ybx2 G T 11: 69,826,767 (GRCm39) probably benign Het
Zfyve1 A T 12: 83,621,909 (GRCm39) V162E 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
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
R7259:Gtf2f1 UTSW 17 57,311,562 (GRCm39) missense probably damaging 0.96
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'- GTATACCACCTGTGACCAGTTTG -3'
(R):5'- ACGAAGTTCATCCCGTCAG -3'

Sequencing Primer
(F):5'- CTTCCCAAGTGCTGAGATTAAAGGC -3'
(R):5'- TTCATCCCGTCAGGCCGAC -3'
Posted On 2015-06-10