Incidental Mutation 'R1643:Tcof1'
ID 173719
Institutional Source Beutler Lab
Gene Symbol Tcof1
Ensembl Gene ENSMUSG00000024613
Gene Name treacle ribosome biogenesis factor 1
Synonyms treacle
MMRRC Submission 039679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1643 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 60946827-60982043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 60949300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 1205 (K1205T)
Ref Sequence ENSEMBL: ENSMUSP00000135476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050487] [ENSMUST00000097563] [ENSMUST00000163446] [ENSMUST00000167610] [ENSMUST00000175934] [ENSMUST00000176630] [ENSMUST00000177172]
AlphaFold O08784
Predicted Effect probably benign
Transcript: ENSMUST00000050487
SMART Domains Protein: ENSMUSP00000057836
Gene: ENSMUSG00000024610

DomainStartEndE-ValueType
Pfam:MHC2-interact 1 112 2.8e-40 PFAM
Pfam:MHCassoc_trimer 119 190 6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097563
SMART Domains Protein: ENSMUSP00000095171
Gene: ENSMUSG00000024610

DomainStartEndE-ValueType
Pfam:MHC2-interact 1 112 5.3e-40 PFAM
Pfam:MHCassoc_trimer 119 190 6.7e-36 PFAM
TY 212 258 8.6e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163446
SMART Domains Protein: ENSMUSP00000130454
Gene: ENSMUSG00000024613

DomainStartEndE-ValueType
LisH 6 38 5.09e-4 SMART
Pfam:Treacle 108 322 2.2e-8 PFAM
Pfam:Treacle 321 793 4.6e-204 PFAM
low complexity region 819 834 N/A INTRINSIC
low complexity region 855 874 N/A INTRINSIC
low complexity region 879 893 N/A INTRINSIC
low complexity region 916 927 N/A INTRINSIC
low complexity region 967 977 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167610
SMART Domains Protein: ENSMUSP00000126688
Gene: ENSMUSG00000024610

DomainStartEndE-ValueType
Pfam:MHC2-interact 1 112 5.8e-45 PFAM
Pfam:MHCassoc_trimer 119 187 1.7e-34 PFAM
TY 212 258 8.6e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175586
Predicted Effect possibly damaging
Transcript: ENSMUST00000175934
AA Change: K1241T

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135639
Gene: ENSMUSG00000024613
AA Change: K1241T

DomainStartEndE-ValueType
LisH 6 38 5.09e-4 SMART
low complexity region 75 109 N/A INTRINSIC
Pfam:Treacle 153 329 1.6e-12 PFAM
Pfam:Treacle 321 792 6.1e-175 PFAM
Pfam:Treacle 782 936 3.2e-16 PFAM
low complexity region 969 982 N/A INTRINSIC
low complexity region 1025 1039 N/A INTRINSIC
low complexity region 1060 1074 N/A INTRINSIC
low complexity region 1149 1172 N/A INTRINSIC
low complexity region 1260 1285 N/A INTRINSIC
coiled coil region 1306 1335 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000176630
AA Change: K1205T

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613
AA Change: K1205T

DomainStartEndE-ValueType
LisH 6 38 5.09e-4 SMART
Pfam:Treacle 108 323 2.5e-8 PFAM
Pfam:Treacle 321 793 5.9e-204 PFAM
low complexity region 819 834 N/A INTRINSIC
low complexity region 843 857 N/A INTRINSIC
low complexity region 880 891 N/A INTRINSIC
low complexity region 933 946 N/A INTRINSIC
low complexity region 989 1003 N/A INTRINSIC
low complexity region 1024 1038 N/A INTRINSIC
low complexity region 1113 1136 N/A INTRINSIC
low complexity region 1224 1249 N/A INTRINSIC
coiled coil region 1270 1299 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177172
SMART Domains Protein: ENSMUSP00000134755
Gene: ENSMUSG00000024613

DomainStartEndE-ValueType
LisH 6 38 5.09e-4 SMART
low complexity region 75 109 N/A INTRINSIC
Pfam:Treacle 150 322 1.3e-10 PFAM
Pfam:Treacle 321 506 1.5e-78 PFAM
Pfam:Treacle 498 745 2e-105 PFAM
low complexity region 771 786 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
low complexity region 832 843 N/A INTRINSIC
low complexity region 885 898 N/A INTRINSIC
low complexity region 941 955 N/A INTRINSIC
low complexity region 976 990 N/A INTRINSIC
Meta Mutation Damage Score 0.2211 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.5%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Heterozygotes for a targeted null mutation die perinatally with severe craniofacial malformations including agenesis of the nasal passages, abnormal development of the maxilla, exencephaly, and anophthalmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,724,942 (GRCm39) K45* probably null Het
Abcc1 T A 16: 14,231,232 (GRCm39) Y457N probably damaging Het
Actr3b A G 5: 26,017,009 (GRCm39) D19G probably damaging Het
Adam39 T C 8: 41,279,523 (GRCm39) V638A possibly damaging Het
Adamts1 G T 16: 85,593,705 (GRCm39) probably benign Het
AI661453 A G 17: 47,778,791 (GRCm39) probably benign Het
Ank3 G A 10: 69,720,632 (GRCm39) S565N probably benign Het
Casd1 A G 6: 4,621,243 (GRCm39) E267G probably benign Het
Casr T C 16: 36,320,567 (GRCm39) K527R probably damaging Het
Cep128 A C 12: 91,292,306 (GRCm39) S248A probably damaging Het
Clic4 A G 4: 134,966,206 (GRCm39) V50A possibly damaging Het
Cylc2 C T 4: 51,225,173 (GRCm39) A36V probably benign Het
Derl1 T A 15: 57,741,955 (GRCm39) M127L probably benign Het
Dnah6 A G 6: 73,021,735 (GRCm39) V3529A possibly damaging Het
Dock1 G T 7: 134,700,508 (GRCm39) L1089F probably damaging Het
Edil3 T A 13: 89,437,695 (GRCm39) probably null Het
Efcab3 A T 11: 104,589,804 (GRCm39) T134S probably benign Het
Ephb1 A G 9: 101,874,024 (GRCm39) V550A probably damaging Het
Fcho2 G A 13: 98,921,324 (GRCm39) T187I probably benign Het
Gas6 T C 8: 13,515,902 (GRCm39) probably null Het
Gdf7 T C 12: 8,347,971 (GRCm39) Y442C probably damaging Het
Gm11567 G A 11: 99,770,623 (GRCm39) G187E unknown Het
Gm8674 T C 13: 50,055,394 (GRCm39) noncoding transcript Het
Ift80 T A 3: 68,823,490 (GRCm39) I591F probably benign Het
Kcnn3 C T 3: 89,427,804 (GRCm39) S10L unknown Het
Keg1 A G 19: 12,696,406 (GRCm39) I197V probably benign Het
Klhdc9 A G 1: 171,187,034 (GRCm39) probably null Het
Klhl11 A G 11: 100,353,841 (GRCm39) V660A probably benign Het
Lamc1 T C 1: 153,133,818 (GRCm39) probably benign Het
Lrrc73 G T 17: 46,566,266 (GRCm39) probably null Het
Lrriq1 G A 10: 103,050,685 (GRCm39) S689L probably benign Het
Magi2 A G 5: 20,910,504 (GRCm39) probably benign Het
Meis1 A G 11: 18,966,278 (GRCm39) S32P probably benign Het
Mia2 A G 12: 59,226,631 (GRCm39) probably null Het
Mlph T C 1: 90,869,456 (GRCm39) L486P probably damaging Het
Myh10 A G 11: 68,682,836 (GRCm39) E1090G probably damaging Het
Mylk T C 16: 34,696,005 (GRCm39) S247P probably benign Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Nedd4l A G 18: 65,331,712 (GRCm39) Y636C probably damaging Het
Nfib A T 4: 82,416,916 (GRCm39) Y40N probably damaging Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Nisch T C 14: 30,895,125 (GRCm39) D1057G probably damaging Het
P3h2 T C 16: 25,791,041 (GRCm39) H475R probably benign Het
Pde6c C A 19: 38,150,406 (GRCm39) T517K possibly damaging Het
Piezo2 T C 18: 63,215,986 (GRCm39) I994V probably benign Het
Pik3r4 A G 9: 105,564,351 (GRCm39) D1315G possibly damaging Het
Pip5k1c T G 10: 81,150,828 (GRCm39) V46G probably damaging Het
Pole A G 5: 110,465,711 (GRCm39) E1213G probably damaging Het
Prl7d1 T C 13: 27,896,114 (GRCm39) S88G possibly damaging Het
Prodh T A 16: 17,898,933 (GRCm39) N72I probably benign Het
Prrc2a G A 17: 35,375,930 (GRCm39) R907C probably damaging Het
Ptger2 T A 14: 45,226,423 (GRCm39) M1K probably null Het
Samd4b G C 7: 28,123,041 (GRCm39) Q6E probably damaging Het
Sec24a C T 11: 51,595,212 (GRCm39) R916H probably benign Het
Slc12a5 C A 2: 164,835,947 (GRCm39) D865E probably benign Het
Slc17a3 T C 13: 24,041,181 (GRCm39) probably benign Het
Ssrp1 T C 2: 84,871,529 (GRCm39) V317A possibly damaging Het
Stim1 A G 7: 102,035,307 (GRCm39) D95G possibly damaging Het
Taok2 A T 7: 126,475,110 (GRCm39) probably benign Het
Trim43c C T 9: 88,729,530 (GRCm39) R325C probably damaging Het
Trub2 T G 2: 29,667,948 (GRCm39) T231P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uty T A Y: 1,152,054 (GRCm39) D724V probably damaging Het
Vmn2r98 A G 17: 19,301,170 (GRCm39) D724G probably damaging Het
Wdfy3 A G 5: 102,023,781 (GRCm39) I2442T possibly damaging Het
Wdfy4 T C 14: 32,795,542 (GRCm39) probably null Het
Zfp280b A G 10: 75,875,444 (GRCm39) H441R probably damaging Het
Zfp60 A T 7: 27,436,400 (GRCm39) Q7L probably damaging Het
Zzef1 T C 11: 72,717,028 (GRCm39) L406S probably damaging Het
Other mutations in Tcof1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Tcof1 APN 18 60,947,640 (GRCm39) unclassified probably benign
IGL01339:Tcof1 APN 18 60,951,167 (GRCm39) utr 3 prime probably benign
IGL02072:Tcof1 APN 18 60,964,637 (GRCm39) missense possibly damaging 0.85
IGL02160:Tcof1 APN 18 60,981,815 (GRCm39) unclassified probably benign
IGL02513:Tcof1 APN 18 60,964,850 (GRCm39) missense possibly damaging 0.51
IGL02823:Tcof1 APN 18 60,949,120 (GRCm39) missense probably benign 0.00
IGL03161:Tcof1 APN 18 60,966,560 (GRCm39) missense possibly damaging 0.86
IGL03291:Tcof1 APN 18 60,962,133 (GRCm39) missense possibly damaging 0.71
FR4304:Tcof1 UTSW 18 60,968,814 (GRCm39) unclassified probably benign
FR4589:Tcof1 UTSW 18 60,961,722 (GRCm39) critical splice donor site probably benign
FR4737:Tcof1 UTSW 18 60,961,722 (GRCm39) critical splice donor site probably benign
PIT4802001:Tcof1 UTSW 18 60,965,010 (GRCm39) missense unknown
R0569:Tcof1 UTSW 18 60,962,107 (GRCm39) missense possibly damaging 0.85
R0602:Tcof1 UTSW 18 60,966,605 (GRCm39) missense probably damaging 1.00
R0744:Tcof1 UTSW 18 60,978,904 (GRCm39) missense probably damaging 1.00
R0782:Tcof1 UTSW 18 60,949,352 (GRCm39) missense probably damaging 0.97
R0833:Tcof1 UTSW 18 60,978,904 (GRCm39) missense probably damaging 1.00
R0836:Tcof1 UTSW 18 60,978,904 (GRCm39) missense probably damaging 1.00
R0885:Tcof1 UTSW 18 60,968,922 (GRCm39) missense possibly damaging 0.84
R1465:Tcof1 UTSW 18 60,952,026 (GRCm39) splice site probably benign
R1528:Tcof1 UTSW 18 60,948,071 (GRCm39) nonsense probably null
R1919:Tcof1 UTSW 18 60,949,156 (GRCm39) missense possibly damaging 0.85
R1920:Tcof1 UTSW 18 60,971,927 (GRCm39) missense possibly damaging 0.87
R1921:Tcof1 UTSW 18 60,971,927 (GRCm39) missense possibly damaging 0.87
R2023:Tcof1 UTSW 18 60,966,605 (GRCm39) missense probably damaging 1.00
R2108:Tcof1 UTSW 18 60,968,845 (GRCm39) missense probably damaging 0.97
R2114:Tcof1 UTSW 18 60,965,857 (GRCm39) missense possibly damaging 0.85
R2115:Tcof1 UTSW 18 60,965,857 (GRCm39) missense possibly damaging 0.85
R2116:Tcof1 UTSW 18 60,965,857 (GRCm39) missense possibly damaging 0.85
R2117:Tcof1 UTSW 18 60,965,857 (GRCm39) missense possibly damaging 0.85
R2156:Tcof1 UTSW 18 60,964,901 (GRCm39) missense possibly damaging 0.92
R2221:Tcof1 UTSW 18 60,970,973 (GRCm39) missense possibly damaging 0.51
R2229:Tcof1 UTSW 18 60,965,249 (GRCm39) intron probably benign
R2913:Tcof1 UTSW 18 60,949,156 (GRCm39) missense possibly damaging 0.85
R2914:Tcof1 UTSW 18 60,949,156 (GRCm39) missense possibly damaging 0.85
R3944:Tcof1 UTSW 18 60,955,909 (GRCm39) missense probably damaging 0.98
R3979:Tcof1 UTSW 18 60,964,605 (GRCm39) missense possibly damaging 0.71
R4049:Tcof1 UTSW 18 60,965,975 (GRCm39) missense possibly damaging 0.84
R4125:Tcof1 UTSW 18 60,952,673 (GRCm39) missense unknown
R5047:Tcof1 UTSW 18 60,964,986 (GRCm39) missense possibly damaging 0.86
R5433:Tcof1 UTSW 18 60,951,105 (GRCm39) utr 3 prime probably benign
R5546:Tcof1 UTSW 18 60,964,628 (GRCm39) missense possibly damaging 0.85
R5832:Tcof1 UTSW 18 60,952,611 (GRCm39) missense unknown
R5965:Tcof1 UTSW 18 60,966,490 (GRCm39) critical splice donor site probably null
R6301:Tcof1 UTSW 18 60,961,897 (GRCm39) missense probably damaging 0.97
R6480:Tcof1 UTSW 18 60,947,852 (GRCm39) splice site probably null
R6910:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R6911:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R7105:Tcof1 UTSW 18 60,976,368 (GRCm39) missense probably damaging 1.00
R7225:Tcof1 UTSW 18 60,961,520 (GRCm39) missense unknown
R7356:Tcof1 UTSW 18 60,951,166 (GRCm39) missense unknown
R7467:Tcof1 UTSW 18 60,964,977 (GRCm39) missense unknown
R7536:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R7804:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R7818:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R7863:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8006:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8007:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8008:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8063:Tcof1 UTSW 18 60,971,834 (GRCm39) missense probably damaging 1.00
R8192:Tcof1 UTSW 18 60,976,375 (GRCm39) missense probably damaging 1.00
R8200:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8203:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8204:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8207:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8217:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8300:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8517:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8518:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8553:Tcof1 UTSW 18 60,964,643 (GRCm39) missense possibly damaging 0.92
R8729:Tcof1 UTSW 18 60,962,145 (GRCm39) missense unknown
R8732:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R8749:Tcof1 UTSW 18 60,962,123 (GRCm39) missense possibly damaging 0.84
R9800:Tcof1 UTSW 18 60,949,558 (GRCm39) missense unknown
RF001:Tcof1 UTSW 18 60,968,811 (GRCm39) unclassified probably benign
RF007:Tcof1 UTSW 18 60,966,640 (GRCm39) small insertion probably benign
RF009:Tcof1 UTSW 18 60,968,815 (GRCm39) unclassified probably benign
RF010:Tcof1 UTSW 18 60,968,816 (GRCm39) unclassified probably benign
RF011:Tcof1 UTSW 18 60,968,811 (GRCm39) unclassified probably benign
RF013:Tcof1 UTSW 18 60,968,815 (GRCm39) unclassified probably benign
RF015:Tcof1 UTSW 18 60,966,656 (GRCm39) small insertion probably benign
RF016:Tcof1 UTSW 18 60,966,647 (GRCm39) small insertion probably benign
RF022:Tcof1 UTSW 18 60,968,807 (GRCm39) unclassified probably benign
RF024:Tcof1 UTSW 18 60,968,810 (GRCm39) unclassified probably benign
RF027:Tcof1 UTSW 18 60,968,808 (GRCm39) unclassified probably benign
RF029:Tcof1 UTSW 18 60,968,807 (GRCm39) unclassified probably benign
RF029:Tcof1 UTSW 18 60,968,817 (GRCm39) unclassified probably benign
RF030:Tcof1 UTSW 18 60,968,795 (GRCm39) unclassified probably benign
RF030:Tcof1 UTSW 18 60,966,646 (GRCm39) small insertion probably benign
RF030:Tcof1 UTSW 18 60,966,640 (GRCm39) small insertion probably benign
RF031:Tcof1 UTSW 18 60,968,817 (GRCm39) unclassified probably benign
RF031:Tcof1 UTSW 18 60,966,637 (GRCm39) small insertion probably benign
RF035:Tcof1 UTSW 18 60,966,625 (GRCm39) small insertion probably benign
RF036:Tcof1 UTSW 18 60,968,808 (GRCm39) unclassified probably benign
RF036:Tcof1 UTSW 18 60,961,480 (GRCm39) small insertion probably benign
RF038:Tcof1 UTSW 18 60,966,638 (GRCm39) small insertion probably benign
RF040:Tcof1 UTSW 18 60,966,655 (GRCm39) small insertion probably benign
RF040:Tcof1 UTSW 18 60,961,480 (GRCm39) small insertion probably benign
RF041:Tcof1 UTSW 18 60,966,648 (GRCm39) small insertion probably benign
RF041:Tcof1 UTSW 18 60,966,644 (GRCm39) small insertion probably benign
RF043:Tcof1 UTSW 18 60,966,644 (GRCm39) small insertion probably benign
RF050:Tcof1 UTSW 18 60,966,651 (GRCm39) small insertion probably benign
RF051:Tcof1 UTSW 18 60,966,651 (GRCm39) small insertion probably benign
RF053:Tcof1 UTSW 18 60,968,819 (GRCm39) unclassified probably benign
RF056:Tcof1 UTSW 18 60,966,647 (GRCm39) small insertion probably benign
RF057:Tcof1 UTSW 18 60,966,638 (GRCm39) small insertion probably benign
RF057:Tcof1 UTSW 18 60,966,637 (GRCm39) small insertion probably benign
RF057:Tcof1 UTSW 18 60,966,636 (GRCm39) small insertion probably benign
RF057:Tcof1 UTSW 18 60,966,643 (GRCm39) small insertion probably benign
RF060:Tcof1 UTSW 18 60,968,816 (GRCm39) unclassified probably benign
RF060:Tcof1 UTSW 18 60,968,819 (GRCm39) unclassified probably benign
RF063:Tcof1 UTSW 18 60,966,645 (GRCm39) small insertion probably benign
RF064:Tcof1 UTSW 18 60,966,646 (GRCm39) small insertion probably benign
RF064:Tcof1 UTSW 18 60,966,643 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- AGCTTTATCCCCAGCAACTCGC -3'
(R):5'- AGATCTCACCCTCAGCTTTCCAGAC -3'

Sequencing Primer
(F):5'- CCGTCGGGCTTCTCCTTG -3'
(R):5'- GACTTGTGACCTCCAAGACCTG -3'
Posted On 2014-04-24