Incidental Mutation 'R0426:Gtf3c1'
ID 38651
Institutional Source Beutler Lab
Gene Symbol Gtf3c1
Ensembl Gene ENSMUSG00000032777
Gene Name general transcription factor III C 1
Synonyms
MMRRC Submission 038628-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0426 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 125240126-125306860 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 125262188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1119 (Y1119*)
Ref Sequence ENSEMBL: ENSMUSP00000145939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055506] [ENSMUST00000205444] [ENSMUST00000205659]
AlphaFold Q8K284
Predicted Effect probably null
Transcript: ENSMUST00000055506
AA Change: Y1119*
SMART Domains Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: Y1119*

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 null
Transcript: ENSMUST00000205659
AA Change: Y1119*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205827
Predicted Effect probably benign
Transcript: ENSMUST00000206694
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 96% (86/90)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,845,853 (GRCm39) probably benign Het
Acadl A T 1: 66,880,805 (GRCm39) F320L probably damaging Het
Acsbg1 T C 9: 54,530,030 (GRCm39) D222G probably benign Het
Anapc15 A G 7: 101,547,240 (GRCm39) T39A probably benign Het
Ano3 A T 2: 110,491,519 (GRCm39) V919E probably damaging Het
Arhgef12 T C 9: 42,882,286 (GRCm39) probably null Het
Atad5 T A 11: 80,003,658 (GRCm39) I1091N probably benign Het
Atf1 A T 15: 100,130,708 (GRCm39) H26L possibly damaging Het
Atp10a T C 7: 58,434,482 (GRCm39) M252T probably benign Het
Btbd8 C T 5: 107,658,239 (GRCm39) T1603I probably damaging Het
Cd55 C T 1: 130,376,109 (GRCm39) R347H probably benign Het
Cdc27 A C 11: 104,403,853 (GRCm39) probably null Het
Cdh9 G A 15: 16,823,540 (GRCm39) probably null Het
Cdk11b T C 4: 155,726,969 (GRCm39) probably benign Het
Cep70 A G 9: 99,179,737 (GRCm39) D567G probably benign Het
Cep78 A T 19: 15,948,334 (GRCm39) Y382* probably null Het
Cgas G A 9: 78,343,020 (GRCm39) probably benign Het
Col9a2 T C 4: 120,901,857 (GRCm39) probably benign Het
Cyp2d12 G A 15: 82,443,164 (GRCm39) D409N probably benign Het
Ddx39a A G 8: 84,448,398 (GRCm39) T217A probably benign Het
Dennd1b T A 1: 139,097,934 (GRCm39) D733E probably benign Het
Dicer1 A G 12: 104,668,801 (GRCm39) S1294P probably damaging Het
Dnah3 T C 7: 119,542,795 (GRCm39) E3539G probably benign Het
Dnmbp A G 19: 43,840,875 (GRCm39) probably benign Het
Dysf T C 6: 84,126,739 (GRCm39) L1332P probably damaging Het
F5 A G 1: 164,010,409 (GRCm39) D380G probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Fhip1b A C 7: 105,038,680 (GRCm39) C186W probably damaging Het
Galr2 C A 11: 116,172,517 (GRCm39) A69D probably damaging Het
Grk2 T C 19: 4,340,628 (GRCm39) probably null Het
Hgd A T 16: 37,409,047 (GRCm39) probably benign Het
Ildr2 G T 1: 166,136,468 (GRCm39) V436L probably benign Het
Intu G A 3: 40,629,735 (GRCm39) C355Y probably damaging Het
Irf2bpl G T 12: 86,929,870 (GRCm39) P268T probably benign Het
Jarid2 T C 13: 44,994,358 (GRCm39) probably null Het
Jup A T 11: 100,263,227 (GRCm39) M716K probably benign Het
Kank1 G A 19: 25,388,837 (GRCm39) V809I probably damaging Het
Kdm1b T A 13: 47,217,720 (GRCm39) probably benign Het
Kdm3a C T 6: 71,577,739 (GRCm39) C687Y probably damaging Het
Kdm5d T A Y: 942,437 (GRCm39) probably benign Het
Kifap3 T A 1: 163,693,121 (GRCm39) probably benign Het
Macf1 T A 4: 123,377,453 (GRCm39) K1400* probably null Het
Majin A G 19: 6,262,147 (GRCm39) probably benign Het
Mctp1 A G 13: 77,168,940 (GRCm39) I846V probably benign Het
Mrgpra2b T A 7: 47,113,875 (GRCm39) I286F possibly damaging Het
Neil3 T G 8: 54,062,431 (GRCm39) probably benign Het
Nox3 G T 17: 3,745,838 (GRCm39) N23K probably damaging Het
Nt5c3 T C 6: 56,860,797 (GRCm39) K219E probably benign Het
Or1e29 T A 11: 73,667,263 (GRCm39) M297L probably benign Het
Or52b4i T A 7: 102,191,893 (GRCm39) I250N probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6b13 A C 7: 139,782,029 (GRCm39) F218C possibly damaging Het
Or6d13 A T 6: 116,517,446 (GRCm39) N11Y probably damaging Het
Or8g34 T C 9: 39,372,889 (GRCm39) L54P probably damaging Het
Pacsin2 A G 15: 83,263,996 (GRCm39) V347A possibly damaging Het
Pcdhb7 A T 18: 37,475,857 (GRCm39) E331V probably damaging Het
Pcid2 A C 8: 13,131,262 (GRCm39) probably null Het
Pcsk9 T C 4: 106,307,274 (GRCm39) D323G possibly damaging Het
Pdhb T C 14: 8,169,801 (GRCm38) E203G probably damaging Het
Phlpp2 A G 8: 110,655,095 (GRCm39) Y630C probably benign Het
Pidd1 C T 7: 141,019,046 (GRCm39) A812T probably damaging Het
Plau G A 14: 20,892,382 (GRCm39) R389H probably benign Het
Plekhg6 G A 6: 125,341,592 (GRCm39) probably null Het
Ppox T C 1: 171,105,322 (GRCm39) Y321C probably damaging Het
Pxdn A G 12: 30,037,065 (GRCm39) N281S possibly damaging Het
Pycr3 A T 15: 75,790,237 (GRCm39) M138K probably benign Het
Radil T C 5: 142,483,628 (GRCm39) Y526C probably damaging Het
Ranbp3 C A 17: 57,014,169 (GRCm39) D233E probably benign Het
Rhpn1 A G 15: 75,583,721 (GRCm39) Q402R possibly damaging Het
Sec23b T A 2: 144,410,532 (GRCm39) probably benign Het
Sel1l2 A T 2: 140,082,832 (GRCm39) L602* probably null Het
Sema5b G A 16: 35,466,725 (GRCm39) G209D probably damaging Het
Svep1 T C 4: 58,073,333 (GRCm39) Y1992C possibly damaging Het
Syncrip T A 9: 88,338,312 (GRCm39) probably benign Het
Synj1 G T 16: 90,764,242 (GRCm39) A65E probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tecrl T C 5: 83,502,610 (GRCm39) probably benign Het
Tenm4 G T 7: 96,427,058 (GRCm39) G698C probably damaging Het
Tmem209 G A 6: 30,491,181 (GRCm39) L259F probably damaging Het
Tmem247 G A 17: 87,225,931 (GRCm39) E124K possibly damaging Het
Tnks2 C A 19: 36,830,221 (GRCm39) A218E probably damaging Het
Tppp T A 13: 74,169,430 (GRCm39) F57I probably damaging Het
Trim36 A G 18: 46,305,592 (GRCm39) W452R probably damaging Het
Vars2 A T 17: 35,975,476 (GRCm39) V262E probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zfp516 G T 18: 82,973,897 (GRCm39) A32S probably benign Het
Zfy2 G T Y: 2,107,348 (GRCm39) L429I 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
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
R4653:Gtf3c1 UTSW 7 125,273,272 (GRCm39) missense probably benign 0.23
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'- GCGCCATCAGACTTTCTGTATGCC -3'
(R):5'- AACCACTTGCCAAGCTAGAGCTGC -3'

Sequencing Primer
(F):5'- GGCAGATACTCAAGTGTCCC -3'
(R):5'- AAGCTAGAGCTGCCTGTTCAG -3'
Posted On 2013-05-23