Incidental Mutation 'IGL02553:Gtf2i'
ID298566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2i
Ensembl Gene ENSMUSG00000060261
Gene Namegeneral transcription factor II I
SynonymsBAP-135, 6030441I21Rik, TFII-I
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02553
Quality Score
Status
Chromosome5
Chromosomal Location134237834-134314760 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 134245161 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 712 (T712I)
Ref Sequence ENSEMBL: ENSMUSP00000134440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059042] [ENSMUST00000082057] [ENSMUST00000111261] [ENSMUST00000172715] [ENSMUST00000173341] [ENSMUST00000173888] [ENSMUST00000174155] [ENSMUST00000174354] [ENSMUST00000174513] [ENSMUST00000174772]
Predicted Effect probably damaging
Transcript: ENSMUST00000059042
AA Change: T731I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: T731I

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: T710I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: T710I

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: T712I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: T712I

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 noncoding transcript
Transcript: ENSMUST00000172553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172600
Predicted Effect probably damaging
Transcript: ENSMUST00000172715
AA Change: T646I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: T646I

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 probably damaging
Transcript: ENSMUST00000173341
AA Change: T691I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: T691I

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: ENSMUST00000173485
SMART Domains Protein: ENSMUSP00000133526
Gene: ENSMUSG00000060261

DomainStartEndE-ValueType
Pfam:GTF2I 35 109 2.4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173509
Predicted Effect probably damaging
Transcript: ENSMUST00000173888
AA Change: T672I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: T672I

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 noncoding transcript
Transcript: ENSMUST00000174003
Predicted Effect probably damaging
Transcript: ENSMUST00000174155
AA Change: T731I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: T731I

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: ENSMUST00000174354
AA Change: T712I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: T712I

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: ENSMUST00000174513
AA Change: T691I

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: T691I

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 damaging
Transcript: ENSMUST00000174772
AA Change: T710I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: T710I

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
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,351,924 S1326P probably damaging Het
Alpk1 A T 3: 127,673,321 L1103Q probably damaging Het
Arhgap11a A C 2: 113,837,561 probably benign Het
Arl6ip6 A G 2: 53,192,214 Y31C possibly damaging Het
Arpin G T 7: 79,927,647 D217E possibly damaging Het
Atp13a4 C T 16: 29,422,703 V735I probably benign Het
Ccdc146 A T 5: 21,297,633 F753L probably benign Het
Cdh3 T A 8: 106,544,248 L511* probably null Het
Chrna1 A T 2: 73,566,862 I361N possibly damaging Het
Clk2 G A 3: 89,175,713 R432H probably damaging Het
Col9a1 T C 1: 24,221,937 probably benign Het
Cstf1 G T 2: 172,377,854 R295L probably benign Het
Dsg2 A G 18: 20,592,410 D526G probably damaging Het
Dsg4 T A 18: 20,462,520 H593Q probably benign Het
Dysf T C 6: 84,130,127 Y1171H possibly damaging Het
Erbb4 A G 1: 68,305,864 L566P probably benign Het
Fam185a T A 5: 21,455,831 D281E probably damaging Het
Fam185a T A 5: 21,429,841 probably benign Het
Fam91a1 T A 15: 58,432,982 probably null Het
Fat2 A G 11: 55,311,283 W322R probably damaging Het
Fbxw8 T A 5: 118,066,060 probably benign Het
Ganc A G 2: 120,458,134 T874A probably benign Het
Gm3543 T C 14: 41,980,091 I145M probably benign Het
Hk1 A G 10: 62,295,773 S268P possibly damaging Het
Hmcn1 A G 1: 150,993,023 V10A probably benign Het
Hsd17b4 C T 18: 50,162,097 probably benign Het
Ighv1-75 A T 12: 115,834,105 W66R probably damaging Het
Kif21b G T 1: 136,154,121 D636Y probably damaging Het
Kif5b A T 18: 6,220,914 I398N probably benign Het
Metap2 T C 10: 93,865,449 M165V probably damaging Het
Mterf2 A C 10: 85,120,467 L98V probably damaging Het
Muc16 A G 9: 18,498,553 probably null Het
Myo3b A G 2: 70,095,224 M12V probably benign Het
Nat10 C A 2: 103,752,668 R136I probably damaging Het
Nsd2 T G 5: 33,846,198 S231A probably damaging Het
Olfr1243 T C 2: 89,527,931 T160A probably benign Het
Olfr1281 A T 2: 111,328,988 M190L probably benign Het
Pcdhb14 T A 18: 37,448,018 L59* probably null Het
Pias4 A G 10: 81,163,787 L144P probably damaging Het
Plxna2 T A 1: 194,751,438 N598K probably benign Het
Polq A G 16: 37,041,768 Y550C probably damaging Het
Pot1b T A 17: 55,695,024 probably benign Het
Proz T C 8: 13,065,260 V92A probably benign Het
Rab4a T C 8: 123,823,822 F14L probably benign Het
Riok3 T A 18: 12,143,016 C256* probably null Het
Slc6a1 T A 6: 114,302,490 probably benign Het
Socs5 C T 17: 87,134,991 T453M probably damaging Het
Spata3 T C 1: 86,024,489 L135P probably damaging Het
Spata46 A G 1: 170,311,965 K178E probably damaging Het
Spr T C 6: 85,137,448 N100D probably damaging Het
Srrm4 C T 5: 116,444,565 probably benign Het
Stard3 T C 11: 98,376,563 F169S possibly damaging Het
Tbx1 T A 16: 18,584,097 D222V probably damaging Het
Trbv23 C T 6: 41,216,345 Q56* probably null Het
Tsc22d1 A G 14: 76,417,398 N357S possibly damaging Het
Ugt1a6a C T 1: 88,139,089 P206S probably benign Het
Utp20 A G 10: 88,764,795 V19A probably damaging Het
Vps13b A G 15: 35,646,301 N1517S probably benign Het
Washc2 T C 6: 116,241,610 I672T probably damaging Het
Other mutations in Gtf2i
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Gtf2i APN 5 134242748 missense probably damaging 1.00
IGL01565:Gtf2i APN 5 134255913 missense probably damaging 0.97
IGL01743:Gtf2i APN 5 134286893 missense probably damaging 1.00
IGL01809:Gtf2i APN 5 134249950 missense probably damaging 1.00
IGL02814:Gtf2i APN 5 134286704 missense probably damaging 1.00
IGL02869:Gtf2i APN 5 134279427 splice site probably benign
IGL03018:Gtf2i APN 5 134289335 missense possibly damaging 0.79
IGL03051:Gtf2i APN 5 134242914 nonsense probably null
P0041:Gtf2i UTSW 5 134244888 splice site probably benign
R0330:Gtf2i UTSW 5 134251886 missense probably damaging 0.98
R0515:Gtf2i UTSW 5 134242919 missense probably damaging 1.00
R0529:Gtf2i UTSW 5 134261869 nonsense probably null
R0594:Gtf2i UTSW 5 134242173 splice site probably benign
R0650:Gtf2i UTSW 5 134261837 splice site probably benign
R1055:Gtf2i UTSW 5 134263624 missense probably damaging 1.00
R1079:Gtf2i UTSW 5 134242894 splice site probably benign
R1916:Gtf2i UTSW 5 134246848 missense probably damaging 1.00
R2969:Gtf2i UTSW 5 134251892 missense probably damaging 0.98
R3013:Gtf2i UTSW 5 134295504 splice site probably benign
R4392:Gtf2i UTSW 5 134260629 missense probably damaging 0.96
R4421:Gtf2i UTSW 5 134255037 missense possibly damaging 0.86
R4635:Gtf2i UTSW 5 134245174 missense probably damaging 1.00
R4763:Gtf2i UTSW 5 134255964 missense probably damaging 1.00
R4770:Gtf2i UTSW 5 134243560 missense possibly damaging 0.53
R5063:Gtf2i UTSW 5 134260571 missense probably damaging 1.00
R5195:Gtf2i UTSW 5 134244832 nonsense probably null
R5829:Gtf2i UTSW 5 134263693 missense probably damaging 1.00
R6005:Gtf2i UTSW 5 134255958 nonsense probably null
R6119:Gtf2i UTSW 5 134287057 splice site probably null
R6576:Gtf2i UTSW 5 134263702 missense probably damaging 1.00
R6936:Gtf2i UTSW 5 134242785 missense probably damaging 1.00
R7070:Gtf2i UTSW 5 134282803 missense probably damaging 1.00
R7071:Gtf2i UTSW 5 134263621 missense probably damaging 1.00
R7142:Gtf2i UTSW 5 134244851 missense possibly damaging 0.95
X0022:Gtf2i UTSW 5 134263616 missense probably damaging 1.00
Posted On2015-04-16