Incidental Mutation 'RF010:Tcof1'
ID 603171
Institutional Source Beutler Lab
Gene Symbol Tcof1
Ensembl Gene ENSMUSG00000024613
Gene Name treacle ribosome biogenesis factor 1
Synonyms treacle
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF010 (G1)
Quality Score 181.468
Status Not validated
Chromosome 18
Chromosomal Location 60946827-60982043 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) CAG to CAGAAG at 60968816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163446] [ENSMUST00000175934] [ENSMUST00000176630] [ENSMUST00000177172] [ENSMUST00000177343]
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 benign
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 probably benign
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 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
Predicted Effect probably benign
Transcript: ENSMUST00000177343
SMART Domains Protein: ENSMUSP00000135295
Gene: ENSMUSG00000024613

DomainStartEndE-ValueType
low complexity region 59 93 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
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
2300002M23Rik GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG 17: 35,879,473 (GRCm39) probably benign Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Ankrd28 A G 14: 31,500,943 (GRCm39) I16T probably damaging Het
AY761185 GCACTGTGGGC G 8: 21,433,927 (GRCm39) probably null Het
Bend3 T A 10: 43,386,180 (GRCm39) F191Y possibly damaging Het
Calhm1 GTGGC GTGGCTGTGGCTATGGC 19: 47,129,712 (GRCm39) probably benign Het
Camkv CGCTGCTGC CGC 9: 107,825,059 (GRCm39) probably benign Het
Cfap251 TCTCA T 5: 123,412,224 (GRCm39) probably benign Het
Chga GCA GCATCA 12: 102,527,662 (GRCm39) probably benign Het
Cngb1 CTCTGGCTCTGGCTCTGGCTCTG C 8: 96,030,278 (GRCm39) probably null Het
Cnot3 T C 7: 3,659,068 (GRCm39) V438A probably benign Het
Cntnap5c T A 17: 58,593,790 (GRCm39) W710R probably damaging Het
Dyrk1a A G 16: 94,478,422 (GRCm39) S404G probably benign Het
Efhd2 GCCGCC GCCGCCTCCGCC 4: 141,602,075 (GRCm39) probably benign Het
Flywch1 GTGT GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT 17: 23,981,149 (GRCm39) probably null Het
Fmn2 T A 1: 174,409,581 (GRCm39) S605T unknown Het
Gab3 TCT TCTGCT X: 74,043,617 (GRCm39) probably benign Het
Gabre GCTC GCTCCGTCTC X: 71,313,666 (GRCm39) probably benign Het
Gli3 A G 13: 15,900,954 (GRCm39) Y1447C probably damaging Het
Hibch T C 1: 52,952,891 (GRCm39) V297A probably benign Het
Ifi213 C G 1: 173,409,719 (GRCm39) D462H probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lce1m GCTGCTGCC GCTGCTGCCCCCACTGCTGCC 3: 92,925,597 (GRCm39) probably benign Het
Lpo A G 11: 87,711,928 (GRCm39) V43A probably benign Het
Map1a A AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC 2: 121,136,799 (GRCm39) probably benign Het
Mapk9 A G 11: 49,745,083 (GRCm39) probably benign Het
Mep1a G A 17: 43,797,126 (GRCm39) H314Y probably damaging Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myh3 AC ACTTCC 11: 66,977,185 (GRCm39) probably null Het
Nusap1 ACGTTAGCAGTGAGGAGCAA ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA 2: 119,458,065 (GRCm39) probably benign Het
Or10ag56 T A 2: 87,139,184 (GRCm39) V37E possibly damaging Het
Or14a259 T C 7: 86,012,594 (GRCm39) Q317R probably benign Het
Pdcd11 AGGAGG A 19: 47,101,890 (GRCm39) probably null Het
Pfkm T A 15: 98,027,674 (GRCm39) I651N possibly damaging Het
Phldb3 CCCCCGCCCC CCCCC 7: 24,325,920 (GRCm39) probably null Het
Polr1has CACCACCAC CACCACCACCACCACCACCACTACCACCAC 17: 37,275,955 (GRCm39) probably benign Het
Prkce T C 17: 86,795,627 (GRCm39) V288A probably damaging Het
Pxmp4 A G 2: 154,434,183 (GRCm39) S93P probably damaging Het
Rfc4 T C 16: 22,946,232 (GRCm39) T17A probably benign Het
Rfx4 CTCTCTCT CTCTCTCTCTCTCTCTATCTCTCT 10: 84,694,351 (GRCm39) probably benign Het
Ryr3 G T 2: 112,606,015 (GRCm39) A2415E probably damaging Het
Sbp ACAAAGATGCTGACAACAAAGATGCTGACA ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA 17: 24,164,325 (GRCm39) probably benign Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Sec63 C A 10: 42,682,620 (GRCm39) A437E probably benign Het
Six3 GCG GCGTCG 17: 85,928,783 (GRCm39) probably benign Het
Slco5a1 G A 1: 12,942,171 (GRCm39) T825I probably damaging Het
Spmap2l CAG CAGCGATCCTCCCCAGTCCCGCAAGGCGAG 5: 77,164,274 (GRCm39) probably benign Het
Stard8 GGA GGAAGA X: 98,110,123 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,711,927 (GRCm39) V30A probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Syne1 T A 10: 5,196,386 (GRCm39) D3882V possibly damaging Het
T A G 17: 8,660,540 (GRCm39) T384A probably benign Het
Tbc1d12 CGGGGCGG CG 19: 38,825,384 (GRCm39) probably benign Het
Tcstv5 A T 13: 120,411,582 (GRCm39) V8E probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tfeb CAG CAGAAG 17: 48,097,032 (GRCm39) probably benign Het
Thumpd3 C T 6: 113,033,006 (GRCm39) A248V probably damaging Het
Tlcd4 T A 3: 121,022,533 (GRCm39) I103L probably benign Het
Tmem181a T C 17: 6,330,978 (GRCm39) probably null Het
Trim41 A T 11: 48,698,165 (GRCm39) H600Q probably damaging Het
Ttbk2 A T 2: 120,620,820 (GRCm39) C147* probably null Het
Ttll2 C T 17: 7,618,737 (GRCm39) A397T probably benign Het
Unc79 T A 12: 103,079,046 (GRCm39) L1737Q probably benign Het
Usp47 T A 7: 111,692,145 (GRCm39) V869E probably damaging Het
Vmn1r231 T A 17: 21,110,255 (GRCm39) Q220L probably damaging Het
Vmn2r26 C T 6: 124,016,448 (GRCm39) T304I possibly damaging Het
Wrn T C 8: 33,778,793 (GRCm39) N839S probably benign Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Zfp384 GGCCCAGG GGCCCAGGAGCACGCCCAGG 6: 125,013,451 (GRCm39) probably benign Het
Zfyve26 C T 12: 79,302,112 (GRCm39) C1828Y 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
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
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
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'- TCTAGAATGGGCCCTCTTCAG -3'
(R):5'- GGAAGGCTCTTCATGTGCTG -3'

Sequencing Primer
(F):5'- AGGAGTTCTCCATCACACAGTGG -3'
(R):5'- ATCTCTTGCCTGCTTCTAGGTG -3'
Posted On 2019-12-04