Incidental Mutation 'R0529:Gtf2i'
ID 49044
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 038721-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0529 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 134266688-134343614 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 134290723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 425 (L425*)
Ref Sequence ENSEMBL: ENSMUSP00000133740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059042] [ENSMUST00000082057] [ENSMUST00000111261] [ENSMUST00000172715] [ENSMUST00000174155] [ENSMUST00000173888] [ENSMUST00000173341] [ENSMUST00000174354] [ENSMUST00000174772] [ENSMUST00000174513]
AlphaFold Q9ESZ8
Predicted Effect probably null
Transcript: ENSMUST00000059042
AA Change: L446*
SMART Domains Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: L446*

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: L425*
SMART Domains Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: L425*

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: L427*
SMART Domains Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: L427*

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: L361*
SMART Domains Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: L361*

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: ENSMUST00000174155
AA Change: L446*
SMART Domains Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: L446*

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: ENSMUST00000174133
AA Change: L363*
SMART Domains Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261
AA Change: L363*

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: ENSMUST00000173888
AA Change: L387*
SMART Domains Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: L387*

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: ENSMUST00000173341
AA Change: L406*
SMART Domains Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: L406*

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: ENSMUST00000174354
AA Change: L427*
SMART Domains Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: L427*

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: ENSMUST00000174772
AA Change: L425*
SMART Domains Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: L425*

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: ENSMUST00000174513
AA Change: L406*
SMART Domains Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: L406*

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 noncoding transcript
Transcript: ENSMUST00000174182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173887
Meta Mutation Damage Score 0.9752 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,211,228 (GRCm39) V126I probably benign Het
Aasdh A C 5: 77,024,114 (GRCm39) Y179* probably null Het
Afp A G 5: 90,652,254 (GRCm39) Y415C probably damaging Het
Aldh5a1 G T 13: 25,097,856 (GRCm39) T393K probably benign Het
Arhgef26 T C 3: 62,247,146 (GRCm39) S77P probably benign Het
Axl A G 7: 25,486,712 (GRCm39) probably benign Het
Card10 A G 15: 78,664,675 (GRCm39) probably null Het
Ccdc71l G A 12: 32,429,251 (GRCm39) S90N probably damaging Het
Cebpa A T 7: 34,819,624 (GRCm39) T261S probably benign Het
Cnmd T C 14: 79,879,481 (GRCm39) E219G probably benign Het
Cntln T A 4: 84,986,062 (GRCm39) L1010H probably damaging Het
Cul9 A G 17: 46,831,394 (GRCm39) probably benign Het
Cyld A G 8: 89,456,387 (GRCm39) E479G probably benign Het
Dmp1 A G 5: 104,360,092 (GRCm39) E256G probably benign Het
Dnmt1 T C 9: 20,822,846 (GRCm39) D1140G probably damaging Het
Drd2 A C 9: 49,318,374 (GRCm39) M439L probably benign Het
Drd3 G A 16: 43,643,077 (GRCm39) V438M probably damaging Het
Dyrk3 A G 1: 131,057,858 (GRCm39) I70T probably benign Het
Fbxo38 T C 18: 62,639,057 (GRCm39) K1082E probably damaging Het
Fbxw10 A C 11: 62,750,671 (GRCm39) D428A probably damaging Het
Fmn1 T A 2: 113,538,198 (GRCm39) probably benign Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Gda T A 19: 21,402,901 (GRCm39) I82F probably damaging Het
Gpatch4 T A 3: 87,958,583 (GRCm39) H22Q probably damaging Het
Gpr55 A G 1: 85,869,225 (GRCm39) F119L probably benign Het
Knstrn T A 2: 118,661,461 (GRCm39) probably benign Het
Lipo2 T A 19: 33,724,335 (GRCm39) I144L probably benign Het
Lrp1 T C 10: 127,377,463 (GRCm39) probably null Het
Mtmr14 T C 6: 113,243,213 (GRCm39) probably benign Het
Nsmce4a A T 7: 130,135,536 (GRCm39) S345R probably benign Het
Oacyl T A 18: 65,875,290 (GRCm39) V385D probably damaging Het
Or6k8-ps1 G A 1: 173,979,696 (GRCm39) A205T probably benign Het
Or8b52 A T 9: 38,576,808 (GRCm39) C111S probably benign Het
Phlpp2 T C 8: 110,603,603 (GRCm39) S55P probably benign Het
Pkhd1l1 T A 15: 44,390,150 (GRCm39) V1422E possibly damaging Het
Plcd3 T G 11: 102,971,013 (GRCm39) H181P probably benign Het
Psmc5 G A 11: 106,151,990 (GRCm39) probably null Het
Psmd11 T C 11: 80,361,515 (GRCm39) probably benign Het
Rab39 T C 9: 53,598,016 (GRCm39) Y83C probably damaging Het
Ric8a A G 7: 140,440,806 (GRCm39) E93G probably damaging Het
Rtp3 T C 9: 110,816,152 (GRCm39) E133G possibly damaging Het
Serpina1e A C 12: 103,915,363 (GRCm39) L281R probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Tent5c A G 3: 100,379,686 (GRCm39) Y357H probably benign Het
Tmem63a A T 1: 180,788,659 (GRCm39) E332V probably benign Het
Tnk1 T C 11: 69,745,990 (GRCm39) T312A probably damaging Het
Traf3ip3 G T 1: 192,877,119 (GRCm39) probably benign Het
Trappc11 A G 8: 47,980,014 (GRCm39) V174A possibly damaging Het
Vmn1r174 G A 7: 23,453,622 (GRCm39) R96H probably benign Het
Vmn1r7 T A 6: 57,001,450 (GRCm39) Y270F possibly damaging Het
Vmn2r12 A G 5: 109,240,714 (GRCm39) V133A probably benign Het
Vmn2r18 T A 5: 151,485,988 (GRCm39) E502V probably damaging Het
Wipf3 C A 6: 54,462,348 (GRCm39) P186Q probably damaging Het
Yipf5 A T 18: 40,345,215 (GRCm39) M55K probably benign Het
Zbtb7a G A 10: 80,979,820 (GRCm39) V5M probably damaging Het
Zfy1 G T Y: 726,040 (GRCm39) S575Y 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
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
R6005:Gtf2i UTSW 5 134,284,812 (GRCm39) nonsense probably null
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'- TGGTTATCACAGCCACACAGGAAAG -3'
(R):5'- CCTCTCACTCTAAGCACATGAAGCG -3'

Sequencing Primer
(F):5'- gctgtttccatgcacacc -3'
(R):5'- GCACTTTCTATTCTGGAGAACG -3'
Posted On 2013-06-12