Incidental Mutation 'R2270:Gtf2f1'
ID 242426
Institutional Source Beutler Lab
Gene Symbol Gtf2f1
Ensembl Gene ENSMUSG00000002658
Gene Name general transcription factor IIF, polypeptide 1
Synonyms 2810405L04Rik
MMRRC Submission 040270-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R2270 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 57310405-57318288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57310462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 498 (I498V)
Ref Sequence ENSEMBL: ENSMUSP00000002733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002733] [ENSMUST00000002737] [ENSMUST00000002740] [ENSMUST00000074141]
AlphaFold Q3THK3
Predicted Effect probably null
Transcript: ENSMUST00000002733
AA Change: I498V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000002733
Gene: ENSMUSG00000002658
AA Change: I498V

DomainStartEndE-ValueType
Pfam:TFIIF_alpha 2 508 2.6e-200 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000002737
SMART Domains Protein: ENSMUSP00000002737
Gene: ENSMUSG00000002661

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 64 203 8.2e-14 PFAM
low complexity region 206 219 N/A INTRINSIC
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
Predicted Effect probably benign
Transcript: ENSMUST00000074141
SMART Domains Protein: ENSMUSP00000073775
Gene: ENSMUSG00000002661

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 63 145 3.8e-12 PFAM
low complexity region 148 161 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149632
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,065,863 (GRCm39) R54W possibly damaging Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Ap4e1 T C 2: 126,889,083 (GRCm39) probably null Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atp11b A G 3: 35,864,283 (GRCm39) probably null Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Chat T C 14: 32,176,538 (GRCm39) R79G probably damaging Het
Chek1 A G 9: 36,630,982 (GRCm39) L144P probably damaging Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Crip2 A C 12: 113,108,486 (GRCm39) K62N probably damaging Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnm3 A T 1: 162,305,358 (GRCm39) L12Q probably damaging Het
Eftud2 T C 11: 102,755,607 (GRCm39) N200S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Fry A G 5: 150,324,389 (GRCm39) I1151V probably null Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gpr143 T A X: 151,573,566 (GRCm39) V181E probably damaging Het
Ipo4 A G 14: 55,871,557 (GRCm39) L168P probably damaging Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mre11a A G 9: 14,726,470 (GRCm39) E411G probably benign Het
Mybpc1 C A 10: 88,387,269 (GRCm39) V106F probably benign Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
N4bp3 A T 11: 51,535,132 (GRCm39) N352K probably benign Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ncor2 A G 5: 125,115,019 (GRCm39) V515A probably benign Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Olfm4 C A 14: 80,249,315 (GRCm39) T144K probably damaging Het
Or11g25 G T 14: 50,723,494 (GRCm39) C193F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Phf12 G T 11: 77,875,001 (GRCm39) A76S possibly damaging Het
Plb1 G T 5: 32,450,586 (GRCm39) D376Y probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prkg1 A G 19: 30,556,031 (GRCm39) V610A probably benign Het
Prrc2a T C 17: 35,368,512 (GRCm39) T2104A possibly damaging Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Ranbp2 T C 10: 58,291,749 (GRCm39) V252A probably benign Het
Rcn3 A G 7: 44,738,075 (GRCm39) S98P probably damaging Het
Rere T C 4: 150,561,837 (GRCm39) S248P unknown Het
Rnaseh2a T C 8: 85,692,048 (GRCm39) E75G probably benign Het
Slc15a1 A T 14: 121,717,406 (GRCm39) M292K probably damaging Het
Slc1a2 T G 2: 102,566,339 (GRCm39) L14R probably damaging Het
Slfn2 C T 11: 82,960,761 (GRCm39) R247C probably damaging Het
Ttn T C 2: 76,778,708 (GRCm39) I1218M probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Yme1l1 T C 2: 23,065,232 (GRCm39) I247T possibly damaging Het
Zc3h13 T C 14: 75,569,587 (GRCm39) M1478T probably benign Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Znhit2 A G 19: 6,111,261 (GRCm39) E2G probably damaging Het
Zpbp A T 11: 11,368,272 (GRCm39) M133K probably benign 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
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
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'- CCAGGAAGTGGGATATCATTTGAGATG -3'
(R):5'- GGACTCTTGTATGACTCCAGCC -3'

Sequencing Primer
(F):5'- AGTGGGATATCATTTGAGATGTAAAC -3'
(R):5'- TCCCCTCCCACAGTGATG -3'
Posted On 2014-10-16