Incidental Mutation 'R5610:Gtf3c1'
ID 440303
Institutional Source Beutler Lab
Gene Symbol Gtf3c1
Ensembl Gene ENSMUSG00000032777
Gene Name general transcription factor III C 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5610 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 125240126-125306860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125303117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 106 (N106S)
Ref Sequence ENSEMBL: ENSMUSP00000056719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055506] [ENSMUST00000069660] [ENSMUST00000124223] [ENSMUST00000148701] [ENSMUST00000205444] [ENSMUST00000205659] [ENSMUST00000206127]
AlphaFold Q8K284
Predicted Effect possibly damaging
Transcript: ENSMUST00000055506
AA Change: N106S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: N106S

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: ENSMUST00000069660
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743

DomainStartEndE-ValueType
internal_repeat_3 442 586 9.64e-5 PROSPERO
internal_repeat_2 454 607 1.91e-6 PROSPERO
low complexity region 704 718 N/A INTRINSIC
Pfam:DUF4457 909 1099 5.1e-43 PFAM
Pfam:DUF4457 1205 1524 8.4e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124223
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743

DomainStartEndE-ValueType
internal_repeat_3 416 560 8.9e-5 PROSPERO
internal_repeat_2 428 581 1.74e-6 PROSPERO
low complexity region 678 692 N/A INTRINSIC
Pfam:DUF4457 882 1073 1.4e-39 PFAM
Pfam:DUF4457 1179 1498 2.2e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205347
Predicted Effect probably benign
Transcript: ENSMUST00000205444
AA Change: N106S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000205659
AA Change: N106S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000206127
AA Change: N5S

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205723
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,982,156 (GRCm39) D247G possibly damaging Het
1700123K08Rik A G 5: 138,562,403 (GRCm39) probably null Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Accsl C A 2: 93,692,118 (GRCm39) probably null Het
Adad2 C T 8: 120,341,500 (GRCm39) R171C probably benign Het
Adgrv1 A C 13: 81,669,236 (GRCm39) L2440R probably damaging Het
Antxr1 A G 6: 87,232,845 (GRCm39) V239A probably damaging Het
Aoc1l2 G A 6: 48,907,953 (GRCm39) V318I probably benign Het
Arhgap28 G A 17: 68,203,235 (GRCm39) Q73* probably null Het
Arrdc5 C T 17: 56,604,846 (GRCm39) R147H probably benign Het
Ash1l T C 3: 88,930,492 (GRCm39) Y1990H probably damaging Het
Bank1 T C 3: 135,772,148 (GRCm39) E494G probably damaging Het
Bicral A T 17: 47,119,418 (GRCm39) I701N probably damaging Het
Bod1l T C 5: 41,979,217 (GRCm39) Y699C probably damaging Het
C3ar1 T G 6: 122,827,537 (GRCm39) T227P probably benign Het
Ccr3 C A 9: 123,829,518 (GRCm39) D284E probably damaging Het
Cdh13 T C 8: 119,578,462 (GRCm39) V163A possibly damaging Het
CK137956 C T 4: 127,840,440 (GRCm39) probably null Het
Cltc T C 11: 86,612,472 (GRCm39) S529G probably benign Het
Cplane2 C T 4: 140,947,177 (GRCm39) P186L probably benign Het
Ddx11 A G 17: 66,457,021 (GRCm39) K783E probably damaging Het
Dnah3 T A 7: 119,538,288 (GRCm39) probably null Het
Eef2k A G 7: 120,486,005 (GRCm39) H408R probably benign Het
Esr1 A G 10: 4,951,221 (GRCm39) K533R probably damaging Het
Fat1 T A 8: 45,406,109 (GRCm39) Y953* probably null Het
Fosl1 T A 19: 5,505,133 (GRCm39) probably null Het
Frmd4b A G 6: 97,283,752 (GRCm39) M373T probably benign Het
Gm1968 A G 16: 29,777,557 (GRCm39) noncoding transcript Het
Gpr26 T C 7: 131,568,694 (GRCm39) V13A possibly damaging Het
Itgb8 T G 12: 119,134,429 (GRCm39) E546A probably damaging Het
Itpr3 C T 17: 27,337,540 (GRCm39) T2450M probably benign Het
Kif1a A T 1: 92,953,450 (GRCm39) Y1245N probably damaging Het
Klrb1f G A 6: 129,031,335 (GRCm39) probably null Het
Lars1 A G 18: 42,390,156 (GRCm39) L37P probably benign Het
Lnpk T C 2: 74,378,369 (GRCm39) T131A probably benign Het
Mob3c C T 4: 115,690,878 (GRCm39) T156I probably benign Het
Nadk T A 4: 155,668,628 (GRCm39) W100R probably damaging Het
Npy6r A T 18: 44,409,061 (GRCm39) I161F probably benign Het
Or4c107 A C 2: 88,789,170 (GRCm39) D120A probably damaging Het
Or6c204 G A 10: 129,022,426 (GRCm39) T288I probably damaging Het
Pcdhga3 A G 18: 37,808,276 (GRCm39) E243G possibly damaging Het
Pdss2 A G 10: 43,315,828 (GRCm39) T361A probably benign Het
Pkd1l2 G T 8: 117,769,059 (GRCm39) Q1198K probably benign Het
Prdx1 T A 4: 116,550,124 (GRCm39) I102N probably damaging Het
Prss1 G A 6: 41,438,147 (GRCm39) V25I probably benign Het
Pspc1 A G 14: 57,015,388 (GRCm39) Y77H probably damaging Het
Rnf5 T C 17: 34,820,712 (GRCm39) probably benign Het
Ryr1 C A 7: 28,811,399 (GRCm39) M235I probably benign Het
Sec24c A G 14: 20,741,893 (GRCm39) Y776C probably damaging Het
Sharpin A G 15: 76,234,253 (GRCm39) probably null Het
Slc12a4 C A 8: 106,676,845 (GRCm39) V482L possibly damaging Het
Slc38a1 C T 15: 96,514,022 (GRCm39) probably null Het
Smtn G T 11: 3,479,582 (GRCm39) T495N probably damaging Het
Sncaip A G 18: 53,001,991 (GRCm39) T171A probably benign Het
Sprr2e T C 3: 92,260,399 (GRCm39) *77R probably null Het
Syngap1 T A 17: 27,178,754 (GRCm39) D443E possibly damaging Het
Taldo1 T C 7: 140,972,205 (GRCm39) V24A probably damaging Het
Tfap2c T A 2: 172,391,778 (GRCm39) N8K probably benign Het
Tmem229a T C 6: 24,955,580 (GRCm39) Y58C probably damaging Het
Tubgcp3 T C 8: 12,689,577 (GRCm39) Y563C probably damaging Het
Ubr1 T A 2: 120,722,593 (GRCm39) D1342V probably benign Het
Usp7 C T 16: 8,534,374 (GRCm39) probably null Het
Wbp1 C T 6: 83,097,216 (GRCm39) G75D probably damaging Het
Zfp180 G T 7: 23,804,315 (GRCm39) V245F probably benign Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Zfp646 T A 7: 127,478,530 (GRCm39) C236S probably 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
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
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'- GAGTCAGATCTCCAGGAAGCAG -3'
(R):5'- ACTGAGTAACCTTCCCTGGTC -3'

Sequencing Primer
(F):5'- TCTCCAGGAAGCAGAAGTAAAAG -3'
(R):5'- CTCTTTGGAACTTGGCAGAAG -3'
Posted On 2016-11-08