Incidental Mutation 'R4653:Gtf3c1'
ID 351477
Institutional Source Beutler Lab
Gene Symbol Gtf3c1
Ensembl Gene ENSMUSG00000032777
Gene Name general transcription factor III C 1
Synonyms
MMRRC Submission 041913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4653 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 125240126-125306860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125273272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 622 (I622V)
Ref Sequence ENSEMBL: ENSMUSP00000145939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055506] [ENSMUST00000205444] [ENSMUST00000205659]
AlphaFold Q8K284
Predicted Effect probably benign
Transcript: ENSMUST00000055506
AA Change: I622V

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: I622V

DomainStartEndE-ValueType
Pfam:B-block_TFIIIC 174 250 5.1e-20 PFAM
low complexity region 344 354 N/A INTRINSIC
low complexity region 474 514 N/A INTRINSIC
low complexity region 538 549 N/A INTRINSIC
low complexity region 592 604 N/A INTRINSIC
low complexity region 725 745 N/A INTRINSIC
low complexity region 859 872 N/A INTRINSIC
low complexity region 1158 1173 N/A INTRINSIC
low complexity region 1359 1372 N/A INTRINSIC
low complexity region 1423 1443 N/A INTRINSIC
low complexity region 1585 1620 N/A INTRINSIC
low complexity region 1895 1915 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205444
Predicted Effect probably benign
Transcript: ENSMUST00000205659
AA Change: I622V

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205827
Meta Mutation Damage Score 0.0595 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (66/68)
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,264 (GRCm39) T351A probably benign Het
3930402G23Rik A T 8: 10,976,075 (GRCm39) noncoding transcript Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,932,230 (GRCm39) E295* probably null Het
Abi3 T C 11: 95,723,637 (GRCm39) I215V probably benign Het
Adhfe1 G T 1: 9,620,803 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,495,156 (GRCm39) probably benign Het
Ank T A 15: 27,590,447 (GRCm39) W344R probably null Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Ccdc39 A G 3: 33,873,955 (GRCm39) probably null Het
Cd180 T A 13: 102,841,416 (GRCm39) L154H probably damaging Het
Cnp A T 11: 100,467,342 (GRCm39) D95V probably benign Het
Cul1 T C 6: 47,461,897 (GRCm39) I20T probably damaging Het
Dnah6 T C 6: 73,050,440 (GRCm39) K3042R possibly damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dpys C A 15: 39,656,642 (GRCm39) R475L probably damaging Het
Dync1i2 A G 2: 71,078,199 (GRCm39) N276S probably damaging Het
Ext2 T C 2: 93,526,504 (GRCm39) S711G probably benign Het
Fancm A G 12: 65,129,828 (GRCm39) Y223C probably damaging Het
Folh1 C A 7: 86,393,633 (GRCm39) G360* probably null Het
Garin5b T C 7: 4,761,054 (GRCm39) R553G possibly damaging Het
Gcat T C 15: 78,919,487 (GRCm39) S151P probably damaging Het
Gcm2 A T 13: 41,256,317 (GRCm39) D477E probably benign Het
Git1 A G 11: 77,395,869 (GRCm39) N468S possibly damaging Het
Hsd17b13 G A 5: 104,113,702 (GRCm39) L251F probably damaging Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Ly9 G T 1: 171,421,597 (GRCm39) H441Q probably benign Het
Mtcl2 A G 2: 156,882,511 (GRCm39) F514L probably damaging Het
Myo15b G A 11: 115,770,813 (GRCm39) probably null Het
Nomo1 G T 7: 45,711,237 (GRCm39) A639S probably benign Het
P3h2 T C 16: 25,924,027 (GRCm39) D136G probably damaging Het
Pde4dip A T 3: 97,674,654 (GRCm39) D87E probably damaging Het
Pdpk1 A T 17: 24,325,871 (GRCm39) D108E probably benign Het
Pex26 C T 6: 121,167,084 (GRCm39) S231L probably damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Ryr3 T A 2: 112,483,108 (GRCm39) N4213I probably damaging Het
Slc7a14 A G 3: 31,311,831 (GRCm39) V63A probably damaging Het
Sppl2a C T 2: 126,762,233 (GRCm39) probably null Het
Sspo T A 6: 48,455,580 (GRCm39) W3077R probably damaging Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Sv2a T C 3: 96,098,078 (GRCm39) probably null Het
Themis2 A G 4: 132,510,287 (GRCm39) S638P probably benign Het
Trabd A G 15: 88,970,042 (GRCm39) Y346C probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trmt1l G A 1: 151,315,320 (GRCm39) V16I probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Usp13 A T 3: 32,892,073 (GRCm39) Q84L probably damaging Het
Vmn1r172 G T 7: 23,359,997 (GRCm39) G294V probably damaging Het
Vmn2r59 A T 7: 41,693,228 (GRCm39) H457Q probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vps8 T C 16: 21,318,960 (GRCm39) Y602H probably damaging Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly damaging Het
Other mutations in Gtf3c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Gtf3c1 APN 7 125,243,430 (GRCm39) missense probably benign 0.15
IGL00535:Gtf3c1 APN 7 125,243,325 (GRCm39) missense probably benign 0.00
IGL00778:Gtf3c1 APN 7 125,266,546 (GRCm39) missense probably damaging 1.00
IGL00832:Gtf3c1 APN 7 125,253,632 (GRCm39) splice site probably benign
IGL01383:Gtf3c1 APN 7 125,298,672 (GRCm39) missense probably damaging 1.00
IGL01472:Gtf3c1 APN 7 125,250,226 (GRCm39) splice site probably benign
IGL01743:Gtf3c1 APN 7 125,262,587 (GRCm39) missense probably damaging 1.00
IGL01867:Gtf3c1 APN 7 125,261,548 (GRCm39) missense probably benign 0.44
IGL02016:Gtf3c1 APN 7 125,267,211 (GRCm39) missense probably damaging 1.00
IGL02096:Gtf3c1 APN 7 125,258,284 (GRCm39) missense probably damaging 0.98
IGL02121:Gtf3c1 APN 7 125,245,903 (GRCm39) nonsense probably null
IGL02226:Gtf3c1 APN 7 125,267,162 (GRCm39) splice site probably null
IGL02376:Gtf3c1 APN 7 125,268,168 (GRCm39) missense probably benign 0.41
IGL02581:Gtf3c1 APN 7 125,245,687 (GRCm39) missense possibly damaging 0.80
IGL02750:Gtf3c1 APN 7 125,275,684 (GRCm39) missense probably damaging 1.00
IGL03063:Gtf3c1 APN 7 125,245,675 (GRCm39) missense possibly damaging 0.72
IGL03167:Gtf3c1 APN 7 125,269,752 (GRCm39) critical splice acceptor site probably null
R0052:Gtf3c1 UTSW 7 125,267,143 (GRCm39) splice site probably null
R0266:Gtf3c1 UTSW 7 125,243,306 (GRCm39) missense possibly damaging 0.83
R0378:Gtf3c1 UTSW 7 125,246,786 (GRCm39) nonsense probably null
R0387:Gtf3c1 UTSW 7 125,280,276 (GRCm39) missense probably damaging 1.00
R0426:Gtf3c1 UTSW 7 125,262,188 (GRCm39) nonsense probably null
R0458:Gtf3c1 UTSW 7 125,243,306 (GRCm39) missense possibly damaging 0.83
R0613:Gtf3c1 UTSW 7 125,243,306 (GRCm39) missense possibly damaging 0.83
R0634:Gtf3c1 UTSW 7 125,256,649 (GRCm39) unclassified probably benign
R0658:Gtf3c1 UTSW 7 125,298,134 (GRCm39) missense probably damaging 1.00
R0904:Gtf3c1 UTSW 7 125,268,014 (GRCm39) splice site probably benign
R1051:Gtf3c1 UTSW 7 125,306,821 (GRCm39) missense probably damaging 1.00
R1481:Gtf3c1 UTSW 7 125,292,310 (GRCm39) critical splice donor site probably null
R1590:Gtf3c1 UTSW 7 125,275,833 (GRCm39) missense possibly damaging 0.90
R1782:Gtf3c1 UTSW 7 125,266,246 (GRCm39) missense probably damaging 1.00
R1981:Gtf3c1 UTSW 7 125,243,444 (GRCm39) missense possibly damaging 0.96
R2513:Gtf3c1 UTSW 7 125,280,345 (GRCm39) missense probably benign 0.01
R2697:Gtf3c1 UTSW 7 125,243,126 (GRCm39) missense probably damaging 0.98
R3963:Gtf3c1 UTSW 7 125,292,397 (GRCm39) splice site probably null
R4125:Gtf3c1 UTSW 7 125,246,622 (GRCm39) nonsense probably null
R4127:Gtf3c1 UTSW 7 125,246,622 (GRCm39) nonsense probably null
R4646:Gtf3c1 UTSW 7 125,258,266 (GRCm39) missense possibly damaging 0.66
R4668:Gtf3c1 UTSW 7 125,266,510 (GRCm39) missense probably damaging 1.00
R4803:Gtf3c1 UTSW 7 125,262,712 (GRCm39) missense probably damaging 1.00
R5138:Gtf3c1 UTSW 7 125,246,664 (GRCm39) missense probably benign 0.05
R5149:Gtf3c1 UTSW 7 125,267,209 (GRCm39) missense probably damaging 0.99
R5286:Gtf3c1 UTSW 7 125,262,580 (GRCm39) missense possibly damaging 0.79
R5437:Gtf3c1 UTSW 7 125,266,540 (GRCm39) missense probably damaging 1.00
R5493:Gtf3c1 UTSW 7 125,269,716 (GRCm39) missense probably damaging 1.00
R5610:Gtf3c1 UTSW 7 125,303,117 (GRCm39) missense possibly damaging 0.94
R5656:Gtf3c1 UTSW 7 125,261,826 (GRCm39) missense probably benign 0.27
R5754:Gtf3c1 UTSW 7 125,243,237 (GRCm39) missense possibly damaging 0.86
R5969:Gtf3c1 UTSW 7 125,244,848 (GRCm39) missense possibly damaging 0.91
R6009:Gtf3c1 UTSW 7 125,246,602 (GRCm39) missense possibly damaging 0.66
R6223:Gtf3c1 UTSW 7 125,275,797 (GRCm39) missense probably benign 0.01
R6580:Gtf3c1 UTSW 7 125,243,519 (GRCm39) missense probably benign 0.02
R6628:Gtf3c1 UTSW 7 125,267,246 (GRCm39) missense probably benign 0.04
R6774:Gtf3c1 UTSW 7 125,240,793 (GRCm39) missense possibly damaging 0.93
R6781:Gtf3c1 UTSW 7 125,258,369 (GRCm39) nonsense probably null
R6978:Gtf3c1 UTSW 7 125,244,706 (GRCm39) missense possibly damaging 0.86
R7078:Gtf3c1 UTSW 7 125,244,914 (GRCm39) missense possibly damaging 0.95
R7096:Gtf3c1 UTSW 7 125,295,731 (GRCm39) critical splice acceptor site probably null
R7146:Gtf3c1 UTSW 7 125,271,993 (GRCm39) missense possibly damaging 0.48
R7246:Gtf3c1 UTSW 7 125,268,266 (GRCm39)
R7330:Gtf3c1 UTSW 7 125,303,055 (GRCm39) missense probably benign 0.36
R7345:Gtf3c1 UTSW 7 125,244,842 (GRCm39) missense probably damaging 1.00
R7480:Gtf3c1 UTSW 7 125,241,713 (GRCm39) missense probably benign 0.22
R7490:Gtf3c1 UTSW 7 125,246,663 (GRCm39) missense probably damaging 0.98
R7555:Gtf3c1 UTSW 7 125,244,842 (GRCm39) missense probably damaging 1.00
R7895:Gtf3c1 UTSW 7 125,271,994 (GRCm39) missense possibly damaging 0.94
R7949:Gtf3c1 UTSW 7 125,250,253 (GRCm39) missense probably benign
R8123:Gtf3c1 UTSW 7 125,303,196 (GRCm39) start gained probably benign
R8295:Gtf3c1 UTSW 7 125,262,234 (GRCm39) missense probably benign 0.01
R8421:Gtf3c1 UTSW 7 125,298,142 (GRCm39) missense probably damaging 1.00
R8438:Gtf3c1 UTSW 7 125,241,701 (GRCm39) nonsense probably null
R8517:Gtf3c1 UTSW 7 125,253,723 (GRCm39) missense probably damaging 1.00
R8970:Gtf3c1 UTSW 7 125,272,227 (GRCm39) unclassified probably benign
R9005:Gtf3c1 UTSW 7 125,303,069 (GRCm39) missense probably benign 0.25
R9156:Gtf3c1 UTSW 7 125,244,949 (GRCm39) missense possibly damaging 0.78
R9292:Gtf3c1 UTSW 7 125,273,563 (GRCm39) intron probably benign
R9400:Gtf3c1 UTSW 7 125,275,683 (GRCm39) missense probably damaging 0.96
R9658:Gtf3c1 UTSW 7 125,306,734 (GRCm39) missense probably damaging 1.00
R9660:Gtf3c1 UTSW 7 125,262,199 (GRCm39) missense possibly damaging 0.52
X0065:Gtf3c1 UTSW 7 125,240,862 (GRCm39) missense probably damaging 1.00
Z1176:Gtf3c1 UTSW 7 125,303,136 (GRCm39) missense probably damaging 0.99
Z1177:Gtf3c1 UTSW 7 125,266,294 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- GGCTCCTAGACACCTAGCATTTTC -3'
(R):5'- CTTGAAAAGGAGTGTGCCCCTC -3'

Sequencing Primer
(F):5'- AGGTCTACCCTTGCTAATGACAGG -3'
(R):5'- TGCCCCTCGGGTATAGTGTC -3'
Posted On 2015-10-08