Incidental Mutation 'IGL03018:Gtf2i'
ID 407955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2i
Ensembl Gene ENSMUSG00000060261
Gene Name general transcription factor II I
Synonyms 6030441I21Rik, TFII-I, BAP-135
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03018
Quality Score
Status
Chromosome 5
Chromosomal Location 134266688-134343614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134318189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 109 (I109F)
Ref Sequence ENSEMBL: ENSMUSP00000133444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059042] [ENSMUST00000082057] [ENSMUST00000111261] [ENSMUST00000172715] [ENSMUST00000173263] [ENSMUST00000173341] [ENSMUST00000173888] [ENSMUST00000174354] [ENSMUST00000174772] [ENSMUST00000174513] [ENSMUST00000174155] [ENSMUST00000173504] [ENSMUST00000174867] [ENSMUST00000174188] [ENSMUST00000173651]
AlphaFold Q9ESZ8
Predicted Effect probably benign
Transcript: ENSMUST00000059042
AA Change: I109F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: I109F

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 benign
Transcript: ENSMUST00000082057
AA Change: I109F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: I109F

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 benign
Transcript: ENSMUST00000111261
AA Change: I109F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: I109F

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 benign
Transcript: ENSMUST00000172715
AA Change: I109F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: I109F

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 probably benign
Transcript: ENSMUST00000173263
Predicted Effect possibly damaging
Transcript: ENSMUST00000173341
AA Change: I109F

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: I109F

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 benign
Transcript: ENSMUST00000173888
AA Change: I109F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: I109F

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 benign
Transcript: ENSMUST00000174354
AA Change: I109F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: I109F

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 benign
Transcript: ENSMUST00000174772
AA Change: I109F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: I109F

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 benign
Transcript: ENSMUST00000174513
AA Change: I109F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: I109F

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 benign
Transcript: ENSMUST00000174155
AA Change: I109F

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: I109F

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 benign
Transcript: ENSMUST00000173504
AA Change: I109F

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134042
Gene: ENSMUSG00000060261
AA Change: I109F

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 150 8.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174867
AA Change: I109F

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133435
Gene: ENSMUSG00000060261
AA Change: I109F

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 169 3.4e-27 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000174133
AA Change: I92F
SMART Domains Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261
AA Change: I92F

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 benign
Transcript: ENSMUST00000174188
AA Change: I109F

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134636
Gene: ENSMUSG00000060261
AA Change: I109F

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 159 3.6e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174773
Predicted Effect probably benign
Transcript: ENSMUST00000173651
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,752,451 (GRCm39) V474E probably damaging Het
Cpsf6 A T 10: 117,203,861 (GRCm39) D30E probably benign Het
Dnai7 A G 6: 145,129,031 (GRCm39) F394S probably damaging Het
Edem1 T C 6: 108,806,103 (GRCm39) F135L probably damaging Het
Elf3 C T 1: 135,183,803 (GRCm39) E239K possibly damaging Het
Farp1 C T 14: 121,339,581 (GRCm39) A53V probably benign Het
Gli3 T A 13: 15,834,717 (GRCm39) L400Q probably damaging Het
Lat2 A T 5: 134,631,445 (GRCm39) I191N probably damaging Het
Mtf1 G A 4: 124,732,456 (GRCm39) A505T probably benign Het
Naa30 G T 14: 49,410,697 (GRCm39) E208D probably benign Het
Nlrp5 T C 7: 23,117,172 (GRCm39) Y299H probably benign Het
Npc1 T A 18: 12,347,436 (GRCm39) N195Y probably damaging Het
Or2f1 A G 6: 42,721,748 (GRCm39) Y259C probably damaging Het
Or4p21 T C 2: 88,277,163 (GRCm39) N40D probably damaging Het
Or5t16 T G 2: 86,819,349 (GRCm39) Y57S probably damaging Het
Or7g18 T C 9: 18,787,523 (GRCm39) M300T probably benign Het
Or7g19 A T 9: 18,856,177 (GRCm39) I78F probably damaging Het
Pate12 A G 9: 36,344,723 (GRCm39) T84A possibly damaging Het
Pcdh9 G A 14: 93,253,012 (GRCm39) A1217V probably null Het
Pdhb C T 14: 8,171,537 (GRCm38) probably benign Het
Pknox2 A G 9: 36,865,993 (GRCm39) Y75H probably damaging Het
Ptprn2 T C 12: 117,175,563 (GRCm39) S748P probably damaging Het
Ranbp6 A G 19: 29,788,789 (GRCm39) V521A probably damaging Het
Samd7 A G 3: 30,816,294 (GRCm39) K347E probably damaging Het
Selenom A G 11: 3,466,508 (GRCm39) D63G probably damaging Het
Sema6d T C 2: 124,501,520 (GRCm39) V487A possibly damaging Het
Tapt1 A T 5: 44,361,666 (GRCm39) M109K probably damaging Het
Trib1 T C 15: 59,526,333 (GRCm39) F301S probably damaging Het
Tspyl1 T C 10: 34,159,112 (GRCm39) V279A probably damaging Het
Ubr2 C T 17: 47,264,972 (GRCm39) V1184I possibly damaging Het
Urb1 T C 16: 90,585,044 (GRCm39) I526V probably benign Het
Vtcn1 A G 3: 100,791,226 (GRCm39) D88G probably damaging Het
Yod1 T G 1: 130,646,695 (GRCm39) L191V probably benign 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
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
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
Posted On 2016-08-02