Incidental Mutation 'R1055:Gtf2i'
ID 94263
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 039145-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1055 (G1)
Quality Score 207
Status Validated
Chromosome 5
Chromosomal Location 134266688-134343614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134292478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 403 (I403K)
Ref Sequence ENSEMBL: ENSMUSP00000134440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059042] [ENSMUST00000082057] [ENSMUST00000111261] [ENSMUST00000172715] [ENSMUST00000174155] [ENSMUST00000173888] [ENSMUST00000173341] [ENSMUST00000174772] [ENSMUST00000174513] [ENSMUST00000174354]
AlphaFold Q9ESZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000059042
AA Change: I422K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261
AA Change: I422K

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: I401K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261
AA Change: I401K

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: I403K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261
AA Change: I403K

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: ENSMUST00000172715
AA Change: I337K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261
AA Change: I337K

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 damaging
Transcript: ENSMUST00000174155
AA Change: I422K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261
AA Change: I422K

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 possibly damaging
Transcript: ENSMUST00000173888
AA Change: I363K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261
AA Change: I363K

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: ENSMUST00000173341
AA Change: I382K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261
AA Change: I382K

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 unknown
Transcript: ENSMUST00000174133
AA Change: I339K
SMART Domains Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261
AA Change: I339K

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 damaging
Transcript: ENSMUST00000174772
AA Change: I401K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261
AA Change: I401K

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: I382K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261
AA Change: I382K

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: ENSMUST00000174354
AA Change: I403K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261
AA Change: I403K

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: ENSMUST00000201715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201371
Meta Mutation Damage Score 0.7839 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.3%
  • 20x: 87.5%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 64,210,724 (GRCm39) V168A possibly damaging Het
A1cf C A 19: 31,909,919 (GRCm39) T237N probably benign Het
Actl10 A T 2: 154,394,588 (GRCm39) Q180L probably benign Het
Adcy1 T C 11: 7,059,075 (GRCm39) L327P probably damaging Het
Adcy7 T C 8: 89,044,685 (GRCm39) probably benign Het
Ahctf1 G A 1: 179,591,051 (GRCm39) T1243I possibly damaging Het
Akap6 C T 12: 52,927,455 (GRCm39) Q122* probably null Het
Apob G A 12: 8,044,963 (GRCm39) G861D probably damaging Het
Arhgef11 A C 3: 87,624,425 (GRCm39) T539P probably benign Het
Cd244a T A 1: 171,404,844 (GRCm39) V232E probably damaging Het
Chia1 A C 3: 106,038,199 (GRCm39) D365A probably damaging Het
Clpsl2 C T 17: 28,768,500 (GRCm39) Q5* probably null Het
Clrn1 T A 3: 58,772,531 (GRCm39) I117F probably benign Het
Csmd3 A G 15: 47,744,933 (GRCm39) L1354P probably damaging Het
Csn2 G A 5: 87,842,596 (GRCm39) P144S possibly damaging Het
Dcdc2a T A 13: 25,286,593 (GRCm39) M172K probably damaging Het
Dnah9 A T 11: 66,050,837 (GRCm39) W152R probably damaging Het
Dnmt3a T A 12: 3,922,864 (GRCm39) S82T probably benign Het
Ebf1 A G 11: 44,523,602 (GRCm39) K146E probably damaging Het
Gfpt2 A C 11: 49,718,038 (GRCm39) R504S probably damaging Het
Gpank1 T A 17: 35,343,284 (GRCm39) S255T probably damaging Het
Greb1 T C 12: 16,732,252 (GRCm39) M1570V probably damaging Het
Hoxc11 T A 15: 102,863,270 (GRCm39) C104S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ilrun T C 17: 27,986,910 (GRCm39) N272S probably damaging Het
Khdrbs2 A T 1: 32,683,238 (GRCm39) probably benign Het
Lix1l G T 3: 96,528,626 (GRCm39) G200V probably damaging Het
Lrrc23 T C 6: 124,755,114 (GRCm39) N141S probably damaging Het
Marchf11 A T 15: 26,309,748 (GRCm39) D134V probably damaging Het
Myo9a A T 9: 59,762,653 (GRCm39) T795S probably benign Het
Nhsl1 T A 10: 18,401,223 (GRCm39) D782E probably benign Het
Nptxr T C 15: 79,674,456 (GRCm39) probably benign Het
Nrp1 A G 8: 129,195,079 (GRCm39) M512V possibly damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or12e7 ATTGCTACTC A 2: 87,287,781 (GRCm39) probably benign Het
Or5b3 G A 19: 13,388,754 (GRCm39) A274T probably benign Het
Pard3 T C 8: 128,104,761 (GRCm39) F267S probably benign Het
Pomt2 G A 12: 87,194,254 (GRCm39) T50M possibly damaging Het
Qsox2 A G 2: 26,104,137 (GRCm39) Y298H probably damaging Het
Rabgap1 A G 2: 37,382,080 (GRCm39) K450E possibly damaging Het
Rpa1 A T 11: 75,193,558 (GRCm39) V591D probably damaging Het
Sall3 A C 18: 81,013,007 (GRCm39) M1143R probably benign Het
Scgb1b19 G T 7: 32,986,768 (GRCm39) A13S unknown Het
Scn1a T C 2: 66,168,340 (GRCm39) T89A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sdr42e1 T G 8: 118,390,323 (GRCm39) N106T probably damaging Het
Shpk A T 11: 73,105,945 (GRCm39) M266L probably benign Het
Slc34a1 G T 13: 55,550,846 (GRCm39) R139L probably benign Het
Smbd1 C A 16: 32,627,088 (GRCm39) D67Y probably damaging Het
Srd5a3 A G 5: 76,301,485 (GRCm39) N238S probably benign Het
Tmprss2 T C 16: 97,377,462 (GRCm39) N212D probably damaging Het
Uap1 G T 1: 169,984,480 (GRCm39) probably benign Het
Ugt1a6a A G 1: 88,066,736 (GRCm39) M181V probably benign Het
Vmn2r32 C T 7: 7,477,326 (GRCm39) W355* probably null Het
Vmn2r86 T A 10: 130,282,226 (GRCm39) S797C probably damaging Het
Wiz A G 17: 32,606,616 (GRCm39) S40P probably damaging Het
Zfand6 A G 7: 84,265,181 (GRCm39) probably benign Het
Zfp280d G A 9: 72,236,449 (GRCm39) probably null 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
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'- CGCACACACTCTAAGGTGGAAGAAC -3'
(R):5'- TTGTCGTACACATGCTGCCCACTG -3'

Sequencing Primer
(F):5'- tgccgtcaaccactgtc -3'
(R):5'- CTGTTGTCTTGTAACGACTGC -3'
Posted On 2014-01-05