Incidental Mutation 'R5965:Tcof1'
ID 472062
Institutional Source Beutler Lab
Gene Symbol Tcof1
Ensembl Gene ENSMUSG00000024613
Gene Name treacle ribosome biogenesis factor 1
Synonyms treacle
MMRRC Submission 044150-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5965 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 60946827-60982043 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 60966490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163446] [ENSMUST00000175934] [ENSMUST00000176630] [ENSMUST00000176630] [ENSMUST00000177172] [ENSMUST00000177172]
AlphaFold O08784
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 null
Transcript: ENSMUST00000175934
SMART Domains Protein: ENSMUSP00000135639
Gene: ENSMUSG00000024613

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 noncoding transcript
Transcript: ENSMUST00000176088
Predicted Effect probably null
Transcript: ENSMUST00000176630
SMART Domains Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613

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 null
Transcript: ENSMUST00000176630
SMART Domains Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613

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 null
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
Predicted Effect probably null
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 0.9490 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.1%
Validation Efficiency 98% (80/82)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T A 5: 30,410,637 (GRCm39) T23S probably benign Het
Armc2 A G 10: 41,798,568 (GRCm39) I747T possibly damaging Het
Cacna1c T A 6: 118,579,261 (GRCm39) H1729L probably damaging Het
Crebbp A G 16: 3,905,525 (GRCm39) probably benign Het
Cyp4f17 T A 17: 32,743,611 (GRCm39) M326K probably damaging Het
Dchs1 T G 7: 105,405,132 (GRCm39) D2470A probably damaging Het
Ddhd2 T C 8: 26,225,804 (GRCm39) T518A probably damaging Het
Derl2 T C 11: 70,905,378 (GRCm39) T109A probably benign Het
Dnah7b T C 1: 46,402,147 (GRCm39) L3994P probably damaging Het
Dock10 T C 1: 80,546,461 (GRCm39) probably null Het
Dync1h1 T A 12: 110,599,212 (GRCm39) S1856T probably benign Het
Ehd2 T C 7: 15,685,999 (GRCm39) K358E possibly damaging Het
Enpp2 A G 15: 54,746,367 (GRCm39) probably null Het
Esco1 T C 18: 10,593,867 (GRCm39) E473G possibly damaging Het
Exoc5 A G 14: 49,272,388 (GRCm39) F342S probably damaging Het
Fam186a T A 15: 99,842,978 (GRCm39) T1089S probably benign Het
Fanca T C 8: 124,043,149 (GRCm39) D79G possibly damaging Het
Gabrb2 A G 11: 42,517,696 (GRCm39) Y506C probably damaging Het
Galntl6 T C 8: 58,310,565 (GRCm39) T379A probably benign Het
Garin2 T A 12: 78,757,080 (GRCm39) N12K unknown Het
Gm34768 A G 2: 11,913,316 (GRCm39) noncoding transcript Het
Gps2 A G 11: 69,805,620 (GRCm39) E46G possibly damaging Het
Gsdmc T C 15: 63,676,447 (GRCm39) probably null Het
Gys1 C T 7: 45,104,763 (GRCm39) T666I probably benign Het
Hsd17b11 T A 5: 104,169,651 (GRCm39) probably benign Het
Iffo1 T A 6: 125,129,471 (GRCm39) probably benign Het
Ighv1-51 T C 12: 115,095,177 (GRCm39) noncoding transcript Het
Kansl3 T A 1: 36,384,601 (GRCm39) probably null Het
Kdm3a A G 6: 71,598,364 (GRCm39) I174T probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Lair1 T C 7: 4,032,023 (GRCm39) D28G possibly damaging Het
Lama3 A G 18: 12,562,944 (GRCm39) D489G possibly damaging Het
Lamb3 A T 1: 193,025,768 (GRCm39) I1153F probably damaging Het
Lsp1 T A 7: 142,044,161 (GRCm39) probably null Het
Man1a A G 10: 53,809,586 (GRCm39) probably benign Het
Mcam A C 9: 44,047,925 (GRCm39) S57R probably damaging Het
Mrgprf C A 7: 144,861,168 (GRCm39) probably benign Het
Nfia T C 4: 97,999,529 (GRCm39) *499Q probably null Het
Nmbr C A 10: 14,642,554 (GRCm39) R38S probably benign Het
Or12e7 T G 2: 87,288,381 (GRCm39) F291V probably benign Het
Or51a25 C A 7: 102,373,467 (GRCm39) V77L probably benign Het
Or5h23 T C 16: 58,906,666 (GRCm39) Y60C probably damaging Het
P3h1 C T 4: 119,105,424 (GRCm39) H741Y probably benign Het
Parp4 A T 14: 56,861,489 (GRCm39) M941L probably benign Het
Phaf1 T C 8: 105,961,171 (GRCm39) F69L probably damaging Het
Pik3c3 C T 18: 30,431,633 (GRCm39) T331M probably damaging Het
Prkg1 T C 19: 30,701,556 (GRCm39) probably null Het
Qsox2 A T 2: 26,112,233 (GRCm39) V103D probably benign Het
Ranbp1 T C 16: 18,063,092 (GRCm39) T95A probably damaging Het
Ric1 G A 19: 29,548,171 (GRCm39) D280N probably damaging Het
Scd1 A G 19: 44,388,579 (GRCm39) probably null Het
Serpinb3c A G 1: 107,204,653 (GRCm39) I31T probably benign Het
Slc7a11 T A 3: 50,333,593 (GRCm39) Y386F probably benign Het
Smtnl2 A T 11: 72,291,279 (GRCm39) probably null Het
Snx2 G T 18: 53,327,534 (GRCm39) E87* probably null Het
Tars2 A C 3: 95,655,464 (GRCm39) probably null Het
Tax1bp1 C A 6: 52,706,317 (GRCm39) T106N probably damaging Het
Tenm3 C A 8: 48,681,543 (GRCm39) E2680* probably null Het
Thap7 C T 16: 17,348,611 (GRCm39) probably benign Het
Thoc6 T A 17: 23,889,842 (GRCm39) I23F possibly damaging Het
Tmem185b T G 1: 119,454,294 (GRCm39) Y18* probably null Het
Trav6-1 A C 14: 52,876,254 (GRCm39) Y58S probably damaging Het
Trbv16 A T 6: 41,128,989 (GRCm39) I58F probably benign Het
Ubtfl1 T A 9: 18,320,838 (GRCm39) M122K probably benign Het
Vps13a T C 19: 16,596,392 (GRCm39) probably null Het
Zdhhc24 T G 19: 4,933,778 (GRCm39) D278E probably benign Het
Zfp316 T C 5: 143,250,427 (GRCm39) probably null Het
Zfyve9 T C 4: 108,548,878 (GRCm39) T769A possibly damaging Het
Znhit6 T A 3: 145,284,103 (GRCm39) N96K possibly 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
R1643:Tcof1 UTSW 18 60,949,300 (GRCm39) missense possibly damaging 0.72
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
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'- ATGGGAGCTGGGACTAACTG -3'
(R):5'- AAAGGTCCCCATGTCAGAGC -3'

Sequencing Primer
(F):5'- TGGGCCCAGCTGAAGAG -3'
(R):5'- CCATGTCAGAGCCGACTC -3'
Posted On 2017-03-31