Incidental Mutation 'R5493:Gtf3c1'
ID 432179
Institutional Source Beutler Lab
Gene Symbol Gtf3c1
Ensembl Gene ENSMUSG00000032777
Gene Name general transcription factor III C 1
Synonyms
MMRRC Submission 043054-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5493 (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 125269716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 699 (N699S)
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: N699S

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: N699S

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 damaging
Transcript: ENSMUST00000205659
AA Change: N699S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205827
Predicted Effect probably benign
Transcript: ENSMUST00000206694
Meta Mutation Damage Score 0.0635 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (80/81)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,471,993 (GRCm39) S236P possibly damaging Het
A830018L16Rik C T 1: 11,615,431 (GRCm39) R135C probably damaging Het
Agpat3 A G 10: 78,120,069 (GRCm39) V155A possibly damaging Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Aloxe3 A T 11: 69,019,443 (GRCm39) R119* probably null Het
Asap1 A G 15: 64,002,000 (GRCm39) V460A possibly damaging Het
Bicral C A 17: 47,112,620 (GRCm39) R860L possibly damaging Het
Cd180 T A 13: 102,842,649 (GRCm39) I565N probably benign Het
Cdk13 T C 13: 17,978,147 (GRCm39) probably benign Het
Cdkn2d T C 9: 21,200,303 (GRCm39) D156G probably benign Het
Clrn1 A G 3: 58,753,837 (GRCm39) S175P probably damaging Het
Coro7 A G 16: 4,450,351 (GRCm39) L535S probably damaging Het
Cse1l A G 2: 166,783,110 (GRCm39) probably benign Het
Cyp2a12 T C 7: 26,728,550 (GRCm39) L7P unknown Het
D130043K22Rik A G 13: 25,047,586 (GRCm39) Y377C probably damaging Het
Dctn1 G T 6: 83,159,546 (GRCm39) R8L possibly damaging Het
Duox2 T C 2: 122,111,977 (GRCm39) Q1341R probably damaging Het
Eif2b3 A G 4: 116,943,919 (GRCm39) D447G possibly damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fbxw25 T C 9: 109,481,984 (GRCm39) Y234C probably benign Het
Gcnt2 A G 13: 41,107,076 (GRCm39) N315S possibly damaging Het
Gm20730 A T 6: 43,058,746 (GRCm39) V22E possibly damaging Het
Gm4847 T A 1: 166,457,890 (GRCm39) I488F probably damaging Het
Gmds A T 13: 32,124,488 (GRCm39) M290K probably benign Het
Hk3 A G 13: 55,158,984 (GRCm39) V479A probably damaging Het
Ifnlr1 G A 4: 135,432,877 (GRCm39) V438M probably benign Het
Il12rb1 C A 8: 71,262,483 (GRCm39) P26T probably benign Het
Il4i1 G T 7: 44,489,477 (GRCm39) R414L possibly damaging Het
Ipo4 T C 14: 55,868,327 (GRCm39) N490S probably benign Het
Kcnmb2 A G 3: 32,252,291 (GRCm39) E164G probably damaging Het
Kcns1 G A 2: 164,009,899 (GRCm39) L287F probably benign Het
Kdm1a ACC AC 4: 136,284,732 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Knl1 T A 2: 118,899,211 (GRCm39) I304K probably damaging Het
Ksr2 G T 5: 117,846,175 (GRCm39) V681F probably damaging Het
Lypd2 T C 15: 74,606,127 (GRCm39) T4A probably benign Het
Man1a A G 10: 53,950,576 (GRCm39) V182A probably benign Het
Or12j4 A T 7: 140,046,720 (GRCm39) D202V probably damaging Het
Or13e8 A G 4: 43,696,225 (GRCm39) F316S possibly damaging Het
Or2w2 A T 13: 21,758,042 (GRCm39) C195S probably damaging Het
Or51f5 A T 7: 102,424,315 (GRCm39) R195W probably benign Het
Or56b1b T C 7: 108,164,774 (GRCm39) D76G probably benign Het
Pcdha2 C A 18: 37,072,562 (GRCm39) F64L probably damaging Het
Pgap3 G C 11: 98,281,540 (GRCm39) F168L possibly damaging Het
Pip5k1b T C 19: 24,416,439 (GRCm39) N16S probably benign Het
Ppip5k1 T A 2: 121,167,253 (GRCm39) H41L probably damaging Het
Ppp1r9a A G 6: 5,159,702 (GRCm39) R1080G probably damaging Het
Qrich2 A C 11: 116,336,774 (GRCm39) probably null Het
Rbl2 C T 8: 91,842,447 (GRCm39) P1034L probably damaging Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Rin2 A G 2: 145,702,629 (GRCm39) S442G probably damaging Het
Rtca C T 3: 116,293,280 (GRCm39) R71Q probably benign Het
Serpind1 A T 16: 17,157,902 (GRCm39) N366I probably damaging Het
Shox2 C G 3: 66,888,796 (GRCm39) G32R probably damaging Het
Sp3 T A 2: 72,768,466 (GRCm39) N766Y probably damaging Het
Spag7 T A 11: 70,560,059 (GRCm39) S17C probably null Het
Stk25 A T 1: 93,563,031 (GRCm39) F7I probably benign Het
Tbx15 G A 3: 99,259,880 (GRCm39) G584S probably benign Het
Tenm2 T C 11: 36,755,503 (GRCm39) D165G probably benign Het
Tox2 C A 2: 163,046,649 (GRCm39) S42* probably null Het
Vmn1r39 A G 6: 66,781,754 (GRCm39) V188A probably damaging Het
Zbtb5 A T 4: 44,993,941 (GRCm39) M481K probably benign Het
Zfp26 T C 9: 20,355,615 (GRCm39) T56A possibly damaging Het
Zfp459 C A 13: 67,556,498 (GRCm39) C195F probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp764 A G 7: 127,004,105 (GRCm39) I342T probably benign Het
Zfp942 T C 17: 22,151,985 (GRCm39) N7D probably null 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
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'- GAAGTTCAGAACTGGATCCCC -3'
(R):5'- CCTAAGAGGTTCAGATGCCTGC -3'

Sequencing Primer
(F):5'- GTTCAGAACTGGATCCCCATGTAG -3'
(R):5'- TGCCTGCAGCTGAAACAG -3'
Posted On 2016-10-05