Incidental Mutation 'R0650:Gtf2i'
ID 62200
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 038835-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0650 (G1)
Quality Score 117
Status Validated
Chromosome 5
Chromosomal Location 134266688-134343614 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 134290691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059042] [ENSMUST00000082057] [ENSMUST00000111261] [ENSMUST00000172715] [ENSMUST00000174155] [ENSMUST00000174513] [ENSMUST00000173888] [ENSMUST00000174772] [ENSMUST00000174354] [ENSMUST00000173341]
AlphaFold Q9ESZ8
Predicted Effect probably benign
Transcript: ENSMUST00000059042
SMART Domains Protein: ENSMUSP00000049625
Gene: ENSMUSG00000060261

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
SMART Domains Protein: ENSMUSP00000080714
Gene: ENSMUSG00000060261

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
SMART Domains Protein: ENSMUSP00000106892
Gene: ENSMUSG00000060261

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
SMART Domains Protein: ENSMUSP00000134035
Gene: ENSMUSG00000060261

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 benign
Transcript: ENSMUST00000174155
SMART Domains Protein: ENSMUSP00000133566
Gene: ENSMUSG00000060261

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: ENSMUST00000174133
SMART Domains Protein: ENSMUSP00000134111
Gene: ENSMUSG00000060261

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: ENSMUST00000174182
Predicted Effect probably benign
Transcript: ENSMUST00000174513
SMART Domains Protein: ENSMUSP00000133489
Gene: ENSMUSG00000060261

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: ENSMUST00000173888
SMART Domains Protein: ENSMUSP00000133969
Gene: ENSMUSG00000060261

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: ENSMUST00000174772
SMART Domains Protein: ENSMUSP00000133740
Gene: ENSMUSG00000060261

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: ENSMUST00000174354
SMART Domains Protein: ENSMUSP00000134440
Gene: ENSMUSG00000060261

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: ENSMUST00000173341
SMART Domains Protein: ENSMUSP00000133444
Gene: ENSMUSG00000060261

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 noncoding transcript
Transcript: ENSMUST00000201371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173887
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 99% (77/78)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N15Rik A G X: 68,989,391 (GRCm39) S96G unknown Het
4930447C04Rik T C 12: 72,956,830 (GRCm39) D120G probably damaging Het
Actmap A T 7: 26,902,072 (GRCm39) H233L probably damaging Het
Adgrg5 T A 8: 95,660,785 (GRCm39) probably null Het
Afg3l2 G T 18: 67,548,627 (GRCm39) H534Q possibly damaging Het
Ankar G A 1: 72,695,380 (GRCm39) probably benign Het
Arid2 T A 15: 96,299,930 (GRCm39) F1814L possibly damaging Het
Asb15 C T 6: 24,566,163 (GRCm39) A372V probably damaging Het
Atg16l1 A T 1: 87,709,421 (GRCm39) D403V possibly damaging Het
Bnc2 T C 4: 84,211,433 (GRCm39) D407G probably benign Het
Ccdc121 T C 5: 31,643,312 (GRCm39) probably benign Het
Cdan1 A G 2: 120,556,526 (GRCm39) V633A probably benign Het
Cfap46 T C 7: 139,185,571 (GRCm39) Y2482C unknown Het
Chd8 T C 14: 52,439,761 (GRCm39) E964G probably benign Het
Cyp2s1 A G 7: 25,508,683 (GRCm39) V253A probably damaging Het
Depdc1b A G 13: 108,460,443 (GRCm39) N18D probably damaging Het
Fis1 T A 5: 136,991,048 (GRCm39) V4E probably damaging Het
Gba2 T A 4: 43,570,424 (GRCm39) probably null Het
Gm2381 C T 7: 42,469,504 (GRCm39) G207R probably damaging Het
Gpr89 T A 3: 96,804,640 (GRCm39) probably benign Het
Herc2 T G 7: 55,762,958 (GRCm39) S896A probably damaging Het
Huwe1 T C X: 150,659,309 (GRCm39) S921P probably damaging Het
Iqgap1 T A 7: 80,386,143 (GRCm39) K936I probably damaging Het
Kcna4 T A 2: 107,125,927 (GRCm39) Y220* probably null Het
Krt18 A G 15: 101,937,920 (GRCm39) D139G possibly damaging Het
Krt87 T C 15: 101,384,921 (GRCm39) N392D probably damaging Het
L3mbtl4 G A 17: 69,081,286 (GRCm39) C558Y probably damaging Het
Lamc2 T A 1: 153,019,622 (GRCm39) I440F possibly damaging Het
Lrrc28 T C 7: 67,267,833 (GRCm39) N98S probably damaging Het
Lrrk1 G A 7: 65,942,084 (GRCm39) A718V probably damaging Het
Mrgprx2 T C 7: 48,132,666 (GRCm39) I51V probably damaging Het
Myt1 A T 2: 181,424,408 (GRCm39) R25* probably null Het
Npdc1 C T 2: 25,298,021 (GRCm39) T199I probably benign Het
Nup98 T A 7: 101,801,660 (GRCm39) Y755F probably damaging Het
Or51q1c A G 7: 103,652,446 (GRCm39) probably null Het
Or5p69 T A 7: 107,966,996 (GRCm39) C100S probably damaging Het
Or5p76 G T 7: 108,122,289 (GRCm39) N289K probably damaging Het
Or8g22 T A 9: 38,957,996 (GRCm39) M240L probably benign Het
Osgin1 A T 8: 120,172,211 (GRCm39) Y335F probably damaging Het
Pde10a A T 17: 9,161,797 (GRCm39) I493F probably damaging Het
Pdgfrb A G 18: 61,212,780 (GRCm39) I895V probably benign Het
Peg10 T TCCCCANNANNNN 6: 4,756,475 (GRCm39) probably benign Het
Pidd1 A T 7: 141,020,726 (GRCm39) L457* probably null Het
Pik3c2a A G 7: 115,945,482 (GRCm39) probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plcg1 C T 2: 160,595,283 (GRCm39) probably benign Het
Prr13 A C 15: 102,370,650 (GRCm39) *138C probably null Het
Prrc2b T C 2: 32,119,267 (GRCm39) probably benign Het
Psph T C 5: 129,868,633 (GRCm39) probably benign Het
Ripor1 A G 8: 106,344,746 (GRCm39) probably benign Het
Scg3 A G 9: 75,576,617 (GRCm39) S253P probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgk1 A G 10: 21,758,556 (GRCm39) N7D probably damaging Het
Skor2 T C 18: 76,964,255 (GRCm39) F940L probably benign Het
Slbp T C 5: 33,802,833 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Susd5 A T 9: 113,911,603 (GRCm39) H171L possibly damaging Het
Sybu T C 15: 44,536,664 (GRCm39) E354G probably benign Het
Synpo T C 18: 60,735,412 (GRCm39) N845D possibly damaging Het
Tdrd6 A T 17: 43,939,050 (GRCm39) I666N probably damaging Het
Tm9sf4 T C 2: 153,029,285 (GRCm39) I111T probably benign Het
Tnc T C 4: 63,926,971 (GRCm39) T852A probably benign Het
Tnfrsf10b T A 14: 70,013,625 (GRCm39) I185K probably damaging Het
Tnks1bp1 A G 2: 84,892,974 (GRCm39) E305G possibly damaging Het
Tnrc6b T C 15: 80,668,959 (GRCm39) V22A probably benign Het
Ttn A T 2: 76,598,956 (GRCm39) F19319Y probably damaging Het
Ubr5 T C 15: 38,031,051 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,627 (GRCm39) Q191L probably benign Het
Urod T C 4: 116,848,473 (GRCm39) T300A probably benign Het
Vmn1r213 A G 13: 23,195,564 (GRCm39) probably benign Het
Znfx1 G A 2: 166,889,574 (GRCm39) Q723* 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
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'- GCAGTCAGTCTTGACAGATGAGCAC -3'

Sequencing Primer
(F):5'- gctgtttccatgcacacc -3'
(R):5'- CTTGACAGATGAGCACTGTATG -3'
Posted On 2013-07-30