Incidental Mutation 'IGL01743:Gtf2i'
ID 152937
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 # IGL01743
Quality Score
Status
Chromosome 5
Chromosomal Location 134266688-134343614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134315747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 175 (E175G)
Ref Sequence ENSEMBL: ENSMUSP00000133740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059042] [ENSMUST00000082057] [ENSMUST00000111261] [ENSMUST00000172715] [ENSMUST00000173263] [ENSMUST00000173341] [ENSMUST00000174155] [ENSMUST00000173888] [ENSMUST00000174354] [ENSMUST00000174772] [ENSMUST00000174513] [ENSMUST00000174867] [ENSMUST00000173651] [ENSMUST00000173504] [ENSMUST00000174188]
AlphaFold Q9ESZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000059042
AA Change: E175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: E175G

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 damaging
Transcript: ENSMUST00000082057
AA Change: E175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: E175G

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 damaging
Transcript: ENSMUST00000111261
AA Change: E175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: E175G

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: E175G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: E175G

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 probably damaging
Transcript: ENSMUST00000173341
AA Change: E175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: E175G

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 damaging
Transcript: ENSMUST00000174155
AA Change: E175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: E175G

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 damaging
Transcript: ENSMUST00000173888
AA Change: E175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: E175G

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 damaging
Transcript: ENSMUST00000174354
AA Change: E175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: E175G

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 damaging
Transcript: ENSMUST00000174772
AA Change: E175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: E175G

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 damaging
Transcript: ENSMUST00000174513
AA Change: E175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: E175G

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 unknown
Transcript: ENSMUST00000174133
AA Change: E158G
SMART Domains Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261
AA Change: E158G

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 noncoding transcript
Transcript: ENSMUST00000174773
Predicted Effect probably benign
Transcript: ENSMUST00000174867
SMART Domains Protein: ENSMUSP00000133435
Gene: ENSMUSG00000060261

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 169 3.4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173651
Predicted Effect probably benign
Transcript: ENSMUST00000173504
SMART Domains Protein: ENSMUSP00000134042
Gene: ENSMUSG00000060261

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 150 8.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174188
SMART Domains Protein: ENSMUSP00000134636
Gene: ENSMUSG00000060261

DomainStartEndE-ValueType
low complexity region 82 94 N/A INTRINSIC
Pfam:GTF2I 112 159 3.6e-22 PFAM
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,646,238 (GRCm39) N750K probably benign Het
Ackr2 T C 9: 121,738,566 (GRCm39) C314R probably benign Het
Adar C T 3: 89,652,747 (GRCm39) Q210* probably null Het
Aifm1 A G X: 47,569,153 (GRCm39) probably benign Het
Aldoa G T 7: 126,395,875 (GRCm39) D198E probably damaging Het
Ampd1 T A 3: 103,002,201 (GRCm39) probably benign Het
Arhgef18 G T 8: 3,414,697 (GRCm39) C25F probably benign Het
Btnl1 T C 17: 34,604,659 (GRCm39) I480T probably damaging Het
Capn9 T C 8: 125,318,508 (GRCm39) S125P probably benign Het
Cd40lg T A X: 56,257,592 (GRCm39) Y26* probably null Het
Cdc42bpg G T 19: 6,359,853 (GRCm39) probably null Het
Cdh10 T C 15: 18,986,855 (GRCm39) L362P probably benign Het
Dhx16 A G 17: 36,199,000 (GRCm39) D782G probably damaging Het
Dnajb14 G T 3: 137,611,761 (GRCm39) V320L possibly damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Ercc6 T C 14: 32,274,561 (GRCm39) V568A probably damaging Het
Faf2 T C 13: 54,789,311 (GRCm39) probably null Het
Fbrsl1 C T 5: 110,529,506 (GRCm39) V223M probably damaging Het
Fcrl5 T C 3: 87,351,598 (GRCm39) V282A probably damaging Het
Fxr2 C T 11: 69,543,448 (GRCm39) L650F possibly damaging Het
Gabrq A G X: 71,880,448 (GRCm39) M314V probably benign Het
Gnas T A 2: 174,140,125 (GRCm39) Y157* probably null Het
Gtf3c1 A C 7: 125,262,587 (GRCm39) Y1091D probably damaging Het
Heatr5b G A 17: 79,132,069 (GRCm39) Q345* probably null Het
Hydin T C 8: 111,319,408 (GRCm39) V4437A possibly damaging Het
Idi2 T A 13: 9,008,578 (GRCm39) L112Q probably damaging Het
Ift80 C T 3: 68,869,629 (GRCm39) V221M probably benign Het
Il16 A G 7: 83,301,507 (GRCm39) F205S probably benign Het
Irf1 T A 11: 53,665,277 (GRCm39) M218K probably benign Het
Itga8 T C 2: 12,270,144 (GRCm39) N114S probably benign Het
Itgae T C 11: 73,002,585 (GRCm39) V114A probably benign Het
Klhdc10 A G 6: 30,441,933 (GRCm39) probably null Het
Krt78 C A 15: 101,859,333 (GRCm39) R288L probably benign Het
Lars2 A T 9: 123,282,313 (GRCm39) L632F probably damaging Het
Mpdz T C 4: 81,235,919 (GRCm39) D1220G probably damaging Het
Msl1 C T 11: 98,696,245 (GRCm39) T597I probably damaging Het
Mtor T C 4: 148,615,070 (GRCm39) probably benign Het
Myo1b T C 1: 51,821,179 (GRCm39) T435A probably damaging Het
Neb A G 2: 52,115,679 (GRCm39) Y4176H probably damaging Het
Nxpe3 A G 16: 55,670,128 (GRCm39) F326L probably benign Het
Or13a21 T C 7: 139,999,581 (GRCm39) Y35C probably damaging Het
Or2ag1 A G 7: 106,313,541 (GRCm39) S116P possibly damaging Het
Pak5 T A 2: 135,929,333 (GRCm39) R617W probably damaging Het
Peak1 C A 9: 56,166,486 (GRCm39) V481L probably damaging Het
Pik3ap1 G A 19: 41,281,267 (GRCm39) probably benign Het
Pmm1 C T 15: 81,844,987 (GRCm39) E6K probably benign Het
Ppp2r5c G A 12: 110,546,868 (GRCm39) V454M probably benign Het
Ptprf C T 4: 118,106,095 (GRCm39) probably null Het
Pygm G A 19: 6,443,024 (GRCm39) probably null Het
Rimbp2 T A 5: 128,874,912 (GRCm39) probably benign Het
Rps6ka5 A T 12: 100,541,892 (GRCm39) probably null Het
Scarb2 A G 5: 92,608,662 (GRCm39) V188A probably benign Het
Sfrp1 T A 8: 23,902,354 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,820 (GRCm39) probably benign Het
Smgc A G 15: 91,738,796 (GRCm39) I485V probably benign Het
Tas2r124 A G 6: 132,731,798 (GRCm39) I36V probably benign Het
Trmt10b G T 4: 45,305,879 (GRCm39) G185W probably damaging Het
Ttll4 A G 1: 74,727,352 (GRCm39) N798S possibly damaging Het
Ttn G T 2: 76,619,896 (GRCm39) T15924N probably damaging Het
Utrn A T 10: 12,587,301 (GRCm39) Y912N possibly damaging Het
Vmn2r113 T C 17: 23,177,285 (GRCm39) Y690H probably benign Het
Vmn2r51 T C 7: 9,834,154 (GRCm39) R295G probably damaging Het
Vpreb3 A G 10: 75,784,231 (GRCm39) T14A 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
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
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 2014-02-04