Incidental Mutation 'R6978:Gtf3c1'
ID 542563
Institutional Source Beutler Lab
Gene Symbol Gtf3c1
Ensembl Gene ENSMUSG00000032777
Gene Name general transcription factor III C 1
Synonyms
MMRRC Submission 045086-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6978 (G1)
Quality Score 147.008
Status Validated
Chromosome 7
Chromosomal Location 125240126-125306860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125244706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1680 (T1680K)
Ref Sequence ENSEMBL: ENSMUSP00000145939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055506] [ENSMUST00000205659] [ENSMUST00000206183]
AlphaFold Q8K284
Predicted Effect probably benign
Transcript: ENSMUST00000055506
AA Change: T1776K

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: T1776K

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 possibly damaging
Transcript: ENSMUST00000205659
AA Change: T1680K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000206183
Meta Mutation Damage Score 0.4213 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprh C T 16: 38,266,171 (GRCm39) G324S probably damaging Het
Amfr T C 8: 94,727,015 (GRCm39) E140G probably damaging Het
Anapc1 G T 2: 128,511,820 (GRCm39) Q458K probably benign Het
Ap1g1 T C 8: 110,554,968 (GRCm39) probably null Het
Arhgap45 G T 10: 79,857,682 (GRCm39) V211F probably benign Het
Baz2b T C 2: 59,738,059 (GRCm39) E1750G possibly damaging Het
Cmpk2 A T 12: 26,527,018 (GRCm39) T336S probably damaging Het
Col6a3 C T 1: 90,735,192 (GRCm39) probably null Het
Cyp2c29 T C 19: 39,310,107 (GRCm39) L272P probably damaging Het
Cyp3a13 A T 5: 137,903,801 (GRCm39) S286T probably benign Het
Cyp4f18 T G 8: 72,756,340 (GRCm39) S79R probably benign Het
Dio1 T C 4: 107,164,030 (GRCm39) T96A probably benign Het
Dnah7a T C 1: 53,701,526 (GRCm39) I210V probably null Het
Epha4 A G 1: 77,354,220 (GRCm39) Y841H probably damaging Het
Gm12695 T C 4: 96,657,959 (GRCm39) D70G possibly damaging Het
Hnrnpul2 T C 19: 8,801,640 (GRCm39) V314A probably damaging Het
Irx3 G T 8: 92,527,356 (GRCm39) P116Q probably damaging Het
Lrp4 C T 2: 91,322,343 (GRCm39) R1060C probably damaging Het
Mark3 G A 12: 111,593,582 (GRCm39) V205I probably benign Het
Mchr1 T C 15: 81,121,997 (GRCm39) L249P possibly damaging Het
Med26 T C 8: 73,250,427 (GRCm39) N224S possibly damaging Het
Megf9 C T 4: 70,351,766 (GRCm39) V452I probably benign Het
Mki67 T C 7: 135,303,691 (GRCm39) R726G probably benign Het
Mst1r T A 9: 107,789,793 (GRCm39) L583Q probably benign Het
Mybpc1 A G 10: 88,358,886 (GRCm39) C1102R probably damaging Het
Nr6a1 T C 2: 38,762,631 (GRCm39) T55A probably benign Het
Nup210l G A 3: 90,061,873 (GRCm39) R684Q possibly damaging Het
Or13a24 A C 7: 140,154,200 (GRCm39) I45L probably damaging Het
Or4f7 T A 2: 111,644,155 (GRCm39) L305F probably benign Het
Or6x1 C T 9: 40,099,085 (GRCm39) R225W probably damaging Het
Pgbd1 A G 13: 21,607,432 (GRCm39) L254P probably damaging Het
Pou6f2 A G 13: 18,347,063 (GRCm39) F10L probably damaging Het
Ppfia3 T A 7: 44,996,272 (GRCm39) T726S probably benign Het
Rab21 T A 10: 115,134,766 (GRCm39) M118L possibly damaging Het
Rbm6 T C 9: 107,729,774 (GRCm39) probably null Het
Rmc1 T C 18: 12,318,804 (GRCm39) Y430H probably benign Het
Rpp38 A G 2: 3,330,758 (GRCm39) L48P probably damaging Het
Sart3 A T 5: 113,883,807 (GRCm39) I735N probably damaging Het
Slc44a1 T A 4: 53,544,671 (GRCm39) Y461N probably damaging Het
Smok2b A T 17: 13,455,295 (GRCm39) *485L probably null Het
Speer4a2 C A 5: 26,291,454 (GRCm39) E117D probably damaging Het
Spink8 T C 9: 109,649,725 (GRCm39) V69A probably benign Het
Spred2 G A 11: 19,948,254 (GRCm39) R83Q possibly damaging Het
Tmc1 T C 19: 20,781,999 (GRCm39) N573S probably damaging Het
Tmem275 C T 4: 115,755,560 (GRCm39) Q120* probably null Het
Tox4 G T 14: 52,524,694 (GRCm39) probably null Het
Unc13c T C 9: 73,839,259 (GRCm39) S531G probably benign Het
Vmn2r56 C T 7: 12,449,333 (GRCm39) V302I probably benign Het
Ypel1 C T 16: 16,902,438 (GRCm39) A110V probably benign Het
Zfp395 G A 14: 65,623,882 (GRCm39) R117H probably benign Het
Zic5 T C 14: 122,696,960 (GRCm39) T552A unknown Het
Zic5 CGACGAGTAG C 14: 122,696,967 (GRCm39) probably benign 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
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
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'- CCATGGAAGATATGGCCTATCCC -3'
(R):5'- CCACTGCCCAGAAGAGTTTG -3'

Sequencing Primer
(F):5'- TATGGCCTATCCCAAGGAGG -3'
(R):5'- AGAGTTTGCCCACCAGATG -3'
Posted On 2018-11-28