Incidental Mutation 'IGL00517:Gtf2f2'
ID 5864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2f2
Ensembl Gene ENSMUSG00000067995
Gene Name general transcription factor IIF, polypeptide 2
Synonyms 1110031C13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL00517
Quality Score
Status
Chromosome 14
Chromosomal Location 76134377-76248305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76232941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 75 (V75A)
Ref Sequence ENSEMBL: ENSMUSP00000086312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088922]
AlphaFold Q8R0A0
Predicted Effect probably benign
Transcript: ENSMUST00000088922
AA Change: V75A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000086312
Gene: ENSMUSG00000067995
AA Change: V75A

DomainStartEndE-ValueType
Pfam:TFIIF_beta 7 105 6.7e-19 PFAM
Pfam:TFIIF_beta 99 240 1e-44 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 C T 7: 101,037,256 (GRCm39) R180W probably damaging Het
Atg4a T A X: 139,945,488 (GRCm39) M345K probably damaging Het
Cacna1s T C 1: 136,015,077 (GRCm39) V408A probably damaging Het
Ccdc141 C T 2: 76,884,988 (GRCm39) G551D probably damaging Het
Cdh2 A C 18: 16,760,693 (GRCm39) V558G possibly damaging Het
Col9a1 T A 1: 24,234,615 (GRCm39) probably benign Het
Fbxo15 T A 18: 84,977,225 (GRCm39) F46I probably damaging Het
Gdpd4 T C 7: 97,653,478 (GRCm39) I497T probably damaging Het
Hpse T C 5: 100,839,196 (GRCm39) H384R possibly damaging Het
Lama2 T A 10: 27,073,326 (GRCm39) T1044S probably benign Het
Lamp2 T C X: 37,545,186 (GRCm39) probably benign Het
Lipe C A 7: 25,087,985 (GRCm39) probably null Het
Marf1 T C 16: 13,933,606 (GRCm39) E1594G possibly damaging Het
Mettl24 T C 10: 40,686,496 (GRCm39) V291A probably benign Het
Patj G T 4: 98,329,308 (GRCm39) V521F possibly damaging Het
Prkg1 A T 19: 30,872,068 (GRCm39) D242E probably benign Het
Qsox2 T C 2: 26,112,267 (GRCm39) I92V probably benign Het
Rasgrf1 T C 9: 89,852,534 (GRCm39) Y367H probably damaging Het
Rpl21-ps4 T C 14: 11,227,544 (GRCm38) noncoding transcript Het
Sigirr T C 7: 140,672,147 (GRCm39) E266G probably benign Het
Slitrk6 T C 14: 110,988,547 (GRCm39) T387A probably benign Het
Smim22 T C 16: 4,825,860 (GRCm39) L54P probably damaging Het
Taf4 G A 2: 179,566,206 (GRCm39) probably benign Het
Trappc14 A G 5: 138,259,967 (GRCm39) V363A possibly damaging Het
Zswim3 T C 2: 164,663,011 (GRCm39) L497S probably damaging Het
Other mutations in Gtf2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02598:Gtf2f2 APN 14 76,245,182 (GRCm39) missense probably benign
R1054:Gtf2f2 UTSW 14 76,232,885 (GRCm39) missense probably benign 0.00
R1828:Gtf2f2 UTSW 14 76,245,143 (GRCm39) critical splice donor site probably null
R2062:Gtf2f2 UTSW 14 76,155,136 (GRCm39) missense possibly damaging 0.95
R2063:Gtf2f2 UTSW 14 76,155,136 (GRCm39) missense possibly damaging 0.95
R2068:Gtf2f2 UTSW 14 76,155,136 (GRCm39) missense possibly damaging 0.95
R4668:Gtf2f2 UTSW 14 76,155,078 (GRCm39) missense probably benign 0.00
R4840:Gtf2f2 UTSW 14 76,248,131 (GRCm39) missense probably damaging 1.00
R5290:Gtf2f2 UTSW 14 76,135,089 (GRCm39) missense probably damaging 1.00
R7342:Gtf2f2 UTSW 14 76,144,317 (GRCm39) missense probably damaging 0.99
R8783:Gtf2f2 UTSW 14 76,245,164 (GRCm39) missense probably damaging 1.00
Z1088:Gtf2f2 UTSW 14 76,135,063 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20