Incidental Mutation 'R6005:Gtf2i'
ID 479413
Institutional Source Beutler Lab
Gene Symbol Gtf2i
Ensembl Gene ENSMUSG00000060261
Gene Name general transcription factor II I
Synonyms 6030441I21Rik, TFII-I, BAP-135
MMRRC Submission 044425-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6005 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 134266688-134343614 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 134284812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 475 (E475*)
Ref Sequence ENSEMBL: ENSMUSP00000133740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059042] [ENSMUST00000082057] [ENSMUST00000111261] [ENSMUST00000172715] [ENSMUST00000173341] [ENSMUST00000173888] [ENSMUST00000174155] [ENSMUST00000174354] [ENSMUST00000174513] [ENSMUST00000174772]
AlphaFold Q9ESZ8
Predicted Effect probably null
Transcript: ENSMUST00000059042
AA Change: E496*
SMART Domains Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: E496*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 187 1.4e-34 PFAM
low complexity region 328 338 N/A INTRINSIC
Pfam:GTF2I 361 436 3.4e-33 PFAM
Pfam:GTF2I 466 541 5e-34 PFAM
Pfam:GTF2I 571 646 3.3e-33 PFAM
Pfam:GTF2I 733 808 3.9e-33 PFAM
Pfam:GTF2I 868 943 9.4e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000082057
AA Change: E475*
SMART Domains Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: E475*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 187 1.3e-34 PFAM
low complexity region 307 317 N/A INTRINSIC
Pfam:GTF2I 340 415 3.3e-33 PFAM
Pfam:GTF2I 445 520 4.9e-34 PFAM
Pfam:GTF2I 550 625 3.2e-33 PFAM
Pfam:GTF2I 712 787 3.8e-33 PFAM
Pfam:GTF2I 847 922 9.1e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111261
AA Change: E477*
SMART Domains Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: E477*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 187 1.3e-34 PFAM
low complexity region 309 319 N/A INTRINSIC
Pfam:GTF2I 342 417 3.3e-33 PFAM
Pfam:GTF2I 447 522 4.9e-34 PFAM
Pfam:GTF2I 552 627 3.2e-33 PFAM
Pfam:GTF2I 714 789 3.8e-33 PFAM
Pfam:GTF2I 849 924 9.1e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000172715
AA Change: E411*
SMART Domains Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: E411*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 187 9.7e-35 PFAM
low complexity region 243 253 N/A INTRINSIC
Pfam:GTF2I 276 351 2.4e-33 PFAM
Pfam:GTF2I 381 456 3.6e-34 PFAM
Pfam:GTF2I 486 561 2.4e-33 PFAM
Pfam:GTF2I 648 723 2.8e-33 PFAM
Pfam:GTF2I 783 858 6.7e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172953
Predicted Effect probably null
Transcript: ENSMUST00000174133
AA Change: E413*
SMART Domains Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261
AA Change: E413*

DomainStartEndE-ValueType
low complexity region 66 78 N/A INTRINSIC
Pfam:GTF2I 96 170 2.7e-32 PFAM
low complexity region 209 225 N/A INTRINSIC
low complexity region 246 256 N/A INTRINSIC
Pfam:GTF2I 279 353 5.1e-31 PFAM
Pfam:GTF2I 384 437 2.7e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173341
AA Change: E456*
SMART Domains Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: E456*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 187 1e-34 PFAM
low complexity region 288 298 N/A INTRINSIC
Pfam:GTF2I 321 396 2.6e-33 PFAM
Pfam:GTF2I 426 501 3.8e-34 PFAM
Pfam:GTF2I 531 606 2.5e-33 PFAM
Pfam:GTF2I 693 768 3e-33 PFAM
Pfam:GTF2I 832 907 7.1e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173888
AA Change: E437*
SMART Domains Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: E437*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 187 1.3e-34 PFAM
low complexity region 245 258 N/A INTRINSIC
low complexity region 269 279 N/A INTRINSIC
Pfam:GTF2I 302 377 3.2e-33 PFAM
Pfam:GTF2I 407 482 4.6e-34 PFAM
Pfam:GTF2I 512 587 3.1e-33 PFAM
Pfam:GTF2I 674 749 3.6e-33 PFAM
Pfam:GTF2I 809 884 8.7e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174155
AA Change: E496*
SMART Domains Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: E496*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 186 1.6e-34 PFAM
low complexity region 328 338 N/A INTRINSIC
Pfam:GTF2I 361 435 3e-33 PFAM
Pfam:GTF2I 466 540 9.1e-34 PFAM
Pfam:GTF2I 571 645 1.8e-32 PFAM
Pfam:GTF2I 733 807 2.2e-33 PFAM
Pfam:GTF2I 868 942 6e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174354
AA Change: E477*
SMART Domains Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: E477*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 187 1.3e-34 PFAM
low complexity region 309 319 N/A INTRINSIC
Pfam:GTF2I 342 417 3.3e-33 PFAM
Pfam:GTF2I 447 522 4.9e-34 PFAM
Pfam:GTF2I 552 627 3.2e-33 PFAM
Pfam:GTF2I 714 789 3.8e-33 PFAM
Pfam:GTF2I 849 924 9.1e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174513
AA Change: E456*
SMART Domains Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: E456*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 187 1.3e-34 PFAM
low complexity region 288 298 N/A INTRINSIC
Pfam:GTF2I 321 396 3.2e-33 PFAM
Pfam:GTF2I 426 501 4.8e-34 PFAM
Pfam:GTF2I 531 606 3.2e-33 PFAM
Pfam:GTF2I 693 768 3.7e-33 PFAM
Pfam:GTF2I 828 903 8.9e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174772
AA Change: E475*
SMART Domains Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: E475*

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 187 1.3e-34 PFAM
low complexity region 307 317 N/A INTRINSIC
Pfam:GTF2I 340 415 3.3e-33 PFAM
Pfam:GTF2I 445 520 4.9e-34 PFAM
Pfam:GTF2I 550 625 3.2e-33 PFAM
Pfam:GTF2I 712 787 3.8e-33 PFAM
Pfam:GTF2I 847 922 9.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174182
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency 99% (79/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for null allele is embryonic lethal, and show brain hemorrhage and neural tube defects. Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7530416G11Rik A T 15: 85,378,310 (GRCm39) I111N unknown Het
Adgb C T 10: 10,271,096 (GRCm39) R849H probably damaging Het
Ahnak T C 19: 8,992,525 (GRCm39) V4603A possibly damaging Het
Ank1 A G 8: 23,622,218 (GRCm39) D1589G probably damaging Het
Ankrd2 A G 19: 42,028,554 (GRCm39) D70G probably damaging Het
Arid2 T C 15: 96,268,853 (GRCm39) S989P probably benign Het
Bbs1 A T 19: 4,953,823 (GRCm39) Y113* probably null Het
Bfsp2 T G 9: 103,325,749 (GRCm39) K298T probably damaging Het
Bpi G A 2: 158,104,400 (GRCm39) V168I possibly damaging Het
Cacna2d1 T C 5: 16,566,819 (GRCm39) S921P probably damaging Het
Clec4d A C 6: 123,244,118 (GRCm39) T76P probably damaging Het
Coq8b C T 7: 26,956,750 (GRCm39) Q468* probably null Het
Dennd6b T C 15: 89,072,371 (GRCm39) E248G possibly damaging Het
Ednra A G 8: 78,401,556 (GRCm39) S245P possibly damaging Het
Epb41l4a C T 18: 33,961,196 (GRCm39) C446Y probably benign Het
Fam221a A G 6: 49,344,756 (GRCm39) probably benign Het
Fam229a T C 4: 129,385,296 (GRCm39) S76P probably benign Het
Fryl C T 5: 73,240,638 (GRCm39) D1321N probably damaging Het
Gata3os T C 2: 9,887,638 (GRCm39) probably benign Het
Gli2 C T 1: 118,769,794 (GRCm39) R586H probably damaging Het
Gm94 C T 18: 43,925,862 (GRCm39) A16T possibly damaging Het
Gorasp2 T C 2: 70,521,095 (GRCm39) V355A probably benign Het
Grid1 C A 14: 35,045,369 (GRCm39) T404N probably damaging Het
Gucy1a2 T C 9: 3,865,518 (GRCm39) probably null Het
Hs3st5 T A 10: 36,708,924 (GRCm39) I153N probably damaging Het
Il11ra1 T C 4: 41,763,887 (GRCm39) probably null Het
Ireb2 G A 9: 54,816,089 (GRCm39) G887S probably damaging Het
Kdsr T C 1: 106,662,311 (GRCm39) E248G probably benign Het
Lemd2 C G 17: 27,409,759 (GRCm39) R464P probably damaging Het
Lrrfip1 T C 1: 91,042,333 (GRCm39) V246A probably damaging Het
Macf1 T A 4: 123,368,068 (GRCm39) D2231V possibly damaging Het
Map2k5 C T 9: 63,188,301 (GRCm39) D283N probably damaging Het
Mfsd5 A G 15: 102,189,927 (GRCm39) D433G possibly damaging Het
Mir700 C A 4: 135,139,618 (GRCm39) probably null Het
Mroh9 A T 1: 162,903,246 (GRCm39) F52L probably damaging Het
Mtrfr G T 5: 124,478,837 (GRCm39) E153* probably null Het
Mycbp2 A C 14: 103,394,159 (GRCm39) S2691A probably benign Het
Myorg T A 4: 41,498,895 (GRCm39) H245L probably benign Het
Nktr T A 9: 121,577,460 (GRCm39) probably benign Het
Obsl1 C A 1: 75,468,859 (GRCm39) probably null Het
Or10ag60 A T 2: 87,438,424 (GRCm39) I231F probably damaging Het
Or52r1b A T 7: 102,690,853 (GRCm39) I51F probably damaging Het
Or5aq7 A G 2: 86,938,407 (GRCm39) V108A probably benign Het
Or7g35 C T 9: 19,496,181 (GRCm39) T116I probably benign Het
Or8c11 T C 9: 38,289,605 (GRCm39) S137P probably damaging Het
Pcdhb22 T A 18: 37,652,789 (GRCm39) I162N possibly damaging Het
Pde1c A T 6: 56,456,187 (GRCm39) probably null Het
Pds5b A G 5: 150,693,241 (GRCm39) probably null Het
Pkd1l1 A C 11: 8,807,113 (GRCm39) W1568G probably damaging Het
Polr3c A T 3: 96,626,784 (GRCm39) M258K possibly damaging Het
Pramel23 T A 4: 143,425,002 (GRCm39) H147L probably benign Het
Prss12 A T 3: 123,276,417 (GRCm39) I349F probably benign Het
Ptpn21 A G 12: 98,644,811 (GRCm39) *1177Q probably null Het
Rgs22 T A 15: 36,010,713 (GRCm39) K1125M probably benign Het
Rnf182 A G 13: 43,821,511 (GRCm39) K21E probably damaging Het
Rpl6 G A 5: 121,343,577 (GRCm39) probably benign Het
Samsn1 C T 16: 75,670,402 (GRCm39) V234I probably benign Het
Scrib A G 15: 75,929,600 (GRCm39) I1089T probably damaging Het
Sec31a T C 5: 100,511,737 (GRCm39) T1092A probably damaging Het
Sh3bp2 G T 5: 34,719,809 (GRCm39) R606L possibly damaging Het
Sipa1 A G 19: 5,706,229 (GRCm39) V367A probably damaging Het
Slc25a44 C T 3: 88,320,153 (GRCm39) E269K probably damaging Het
Slc44a4 T A 17: 35,142,430 (GRCm39) M353K possibly damaging Het
Sorcs2 A G 5: 36,176,728 (GRCm39) S1142P probably damaging Het
Sptbn4 A G 7: 27,118,024 (GRCm39) F352L probably damaging Het
Synj1 A T 16: 90,766,174 (GRCm39) N541K probably damaging Het
Tas2r113 G A 6: 132,870,659 (GRCm39) R229K probably benign Het
Tcaf3 A T 6: 42,566,905 (GRCm39) I728K probably benign Het
Tcea1 A G 1: 4,960,996 (GRCm39) E167G probably benign Het
Timeless G A 10: 128,080,069 (GRCm39) R406H probably damaging Het
Traf6 C T 2: 101,527,029 (GRCm39) R260* probably null Het
Traj31 C T 14: 54,425,388 (GRCm39) probably benign Het
Ttn A T 2: 76,599,907 (GRCm39) V19089D probably damaging Het
Unc80 C T 1: 66,666,416 (GRCm39) S1868L possibly damaging Het
Wdr38 A T 2: 38,891,333 (GRCm39) I287F possibly damaging Het
Wnt2 G A 6: 18,030,322 (GRCm39) probably benign Het
Wnt5b G A 6: 119,410,615 (GRCm39) P288L probably benign Het
Xkr5 G T 8: 18,984,521 (GRCm39) N174K probably benign Het
Zbtb6 C T 2: 37,318,977 (GRCm39) R317Q probably damaging Het
Zcchc7 AGGGG AGGG 4: 44,931,218 (GRCm39) probably null Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Gtf2i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Gtf2i APN 5 134,271,602 (GRCm39) missense probably damaging 1.00
IGL01565:Gtf2i APN 5 134,284,767 (GRCm39) missense probably damaging 0.97
IGL01743:Gtf2i APN 5 134,315,747 (GRCm39) missense probably damaging 1.00
IGL01809:Gtf2i APN 5 134,278,804 (GRCm39) missense probably damaging 1.00
IGL02553:Gtf2i APN 5 134,274,015 (GRCm39) missense probably damaging 1.00
IGL02814:Gtf2i APN 5 134,315,558 (GRCm39) missense probably damaging 1.00
IGL02869:Gtf2i APN 5 134,308,281 (GRCm39) splice site probably benign
IGL03018:Gtf2i APN 5 134,318,189 (GRCm39) missense possibly damaging 0.79
IGL03051:Gtf2i APN 5 134,271,768 (GRCm39) nonsense probably null
P0041:Gtf2i UTSW 5 134,273,742 (GRCm39) splice site probably benign
R0330:Gtf2i UTSW 5 134,280,740 (GRCm39) missense probably damaging 0.98
R0515:Gtf2i UTSW 5 134,271,773 (GRCm39) missense probably damaging 1.00
R0529:Gtf2i UTSW 5 134,290,723 (GRCm39) nonsense probably null
R0594:Gtf2i UTSW 5 134,271,027 (GRCm39) splice site probably benign
R0650:Gtf2i UTSW 5 134,290,691 (GRCm39) splice site probably benign
R1055:Gtf2i UTSW 5 134,292,478 (GRCm39) missense probably damaging 1.00
R1079:Gtf2i UTSW 5 134,271,748 (GRCm39) splice site probably benign
R1916:Gtf2i UTSW 5 134,275,702 (GRCm39) missense probably damaging 1.00
R2969:Gtf2i UTSW 5 134,280,746 (GRCm39) missense probably damaging 0.98
R3013:Gtf2i UTSW 5 134,324,358 (GRCm39) splice site probably benign
R4392:Gtf2i UTSW 5 134,289,483 (GRCm39) missense probably damaging 0.96
R4421:Gtf2i UTSW 5 134,283,891 (GRCm39) missense possibly damaging 0.86
R4635:Gtf2i UTSW 5 134,274,028 (GRCm39) missense probably damaging 1.00
R4763:Gtf2i UTSW 5 134,284,818 (GRCm39) missense probably damaging 1.00
R4770:Gtf2i UTSW 5 134,272,414 (GRCm39) missense possibly damaging 0.53
R5063:Gtf2i UTSW 5 134,289,425 (GRCm39) missense probably damaging 1.00
R5195:Gtf2i UTSW 5 134,273,686 (GRCm39) nonsense probably null
R5829:Gtf2i UTSW 5 134,292,547 (GRCm39) missense probably damaging 1.00
R6119:Gtf2i UTSW 5 134,315,911 (GRCm39) splice site probably null
R6576:Gtf2i UTSW 5 134,292,556 (GRCm39) missense probably damaging 1.00
R6936:Gtf2i UTSW 5 134,271,639 (GRCm39) missense probably damaging 1.00
R7070:Gtf2i UTSW 5 134,311,657 (GRCm39) missense probably damaging 1.00
R7071:Gtf2i UTSW 5 134,292,475 (GRCm39) missense probably damaging 1.00
R7142:Gtf2i UTSW 5 134,273,705 (GRCm39) missense possibly damaging 0.95
R7366:Gtf2i UTSW 5 134,294,603 (GRCm39) missense probably damaging 1.00
R7694:Gtf2i UTSW 5 134,311,659 (GRCm39) missense probably damaging 1.00
R7879:Gtf2i UTSW 5 134,295,471 (GRCm39) missense possibly damaging 0.77
R8039:Gtf2i UTSW 5 134,284,688 (GRCm39) missense possibly damaging 0.95
R8041:Gtf2i UTSW 5 134,322,599 (GRCm39) critical splice donor site probably null
R8154:Gtf2i UTSW 5 134,280,721 (GRCm39) missense probably benign 0.07
R8365:Gtf2i UTSW 5 134,303,434 (GRCm39) missense probably benign 0.22
R8706:Gtf2i UTSW 5 134,278,733 (GRCm39) missense probably damaging 0.97
R8738:Gtf2i UTSW 5 134,324,374 (GRCm39) missense probably damaging 1.00
R8827:Gtf2i UTSW 5 134,269,096 (GRCm39) critical splice donor site probably null
R8901:Gtf2i UTSW 5 134,324,389 (GRCm39) missense probably damaging 1.00
R8902:Gtf2i UTSW 5 134,278,720 (GRCm39) missense probably benign 0.00
R9020:Gtf2i UTSW 5 134,275,415 (GRCm39) missense probably benign 0.03
R9092:Gtf2i UTSW 5 134,318,241 (GRCm39) makesense probably null
R9169:Gtf2i UTSW 5 134,271,534 (GRCm39) missense probably damaging 1.00
R9240:Gtf2i UTSW 5 134,292,619 (GRCm39) missense probably benign 0.34
R9333:Gtf2i UTSW 5 134,271,840 (GRCm39) missense probably benign 0.01
R9346:Gtf2i UTSW 5 134,315,781 (GRCm39) missense probably benign
R9346:Gtf2i UTSW 5 134,273,663 (GRCm39) missense probably damaging 1.00
R9570:Gtf2i UTSW 5 134,294,627 (GRCm39) missense probably damaging 1.00
R9648:Gtf2i UTSW 5 134,284,770 (GRCm39) missense probably damaging 1.00
R9702:Gtf2i UTSW 5 134,275,415 (GRCm39) missense probably benign 0.03
X0022:Gtf2i UTSW 5 134,292,470 (GRCm39) missense probably damaging 1.00
Z1176:Gtf2i UTSW 5 134,292,499 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TACCGTATAGAGGGAGGGCC -3'
(R):5'- GGTTAATTGGTCCCACTCTCTC -3'

Sequencing Primer
(F):5'- GATCCATCTTCATCAAATGGGTC -3'
(R):5'- GCTAGCCTGGAACTCTGTGTC -3'
Posted On 2017-06-26