Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02823:Tcof1'

361083

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02823

Quality Score

Status

Chromosome

Chromosomal Location

60946827-60982043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60949120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1265 (E1265G)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000175934
AA Change: E1301G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135639
Gene: ENSMUSG00000024613
AA Change: E1301G

Domain	Start	End	E-Value	Type
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
AA Change: E1265G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613
AA Change: E1265G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,410,074 (GRCm39)	S194P	probably damaging	Het
Abca7	T	A	10: 79,844,656 (GRCm39)	D1488E	probably damaging	Het
Abhd18	A	G	3: 40,887,953 (GRCm39)		probably benign	Het
Atp6ap1l	A	G	13: 91,047,644 (GRCm39)	V56A	probably benign	Het
Atrip	A	G	9: 108,890,246 (GRCm39)	Y631H	probably damaging	Het
C9orf72	A	T	4: 35,213,031 (GRCm39)	C215S	probably damaging	Het
Dst	A	T	1: 34,231,164 (GRCm39)	H3097L	possibly damaging	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
Eif2a	G	T	3: 58,456,092 (GRCm39)	A364S	probably benign	Het
Eps8l2	A	T	7: 140,921,988 (GRCm39)	D22V	probably damaging	Het
Fndc7	A	G	3: 108,776,487 (GRCm39)	F432S	probably damaging	Het
Gemin5	T	C	11: 58,058,531 (GRCm39)		probably benign	Het
Grxcr2	T	C	18: 42,125,046 (GRCm39)	K121E	probably damaging	Het
Gucy1a2	T	C	9: 3,894,656 (GRCm39)	I713T	possibly damaging	Het
Hs3st1	A	G	5: 39,772,100 (GRCm39)	L181P	probably damaging	Het
Ksr1	C	A	11: 78,912,229 (GRCm39)	V627L	probably benign	Het
Lama2	T	C	10: 26,877,141 (GRCm39)	N2682D	probably damaging	Het
Lratd2	T	C	15: 60,694,972 (GRCm39)	D258G	probably damaging	Het
Map3k19	G	T	1: 127,750,001 (GRCm39)	H1117N	probably benign	Het
Mdc1	C	T	17: 36,163,815 (GRCm39)	A1121V	probably damaging	Het
Nlrp1a	C	T	11: 70,983,249 (GRCm39)	S1239N	probably damaging	Het
Or2w3	T	C	11: 58,556,793 (GRCm39)	M136T	possibly damaging	Het
Prkra	G	T	2: 76,460,768 (GRCm39)	A310E	probably damaging	Het
Prl2c1	T	C	13: 28,040,416 (GRCm39)		probably benign	Het
Prl7a2	T	C	13: 27,846,734 (GRCm39)	Y93C	possibly damaging	Het
Prob1	A	T	18: 35,785,800 (GRCm39)	V818E	possibly damaging	Het
Rbbp8	A	G	18: 11,865,270 (GRCm39)	S720G	possibly damaging	Het
Rexo4	T	C	2: 26,852,489 (GRCm39)	T149A	probably benign	Het
Slc39a2	T	A	14: 52,132,869 (GRCm39)	Y271N	probably damaging	Het
Sprr2d	T	A	3: 92,247,734 (GRCm39)	C58*	probably null	Het
Srebf2	G	A	15: 82,083,975 (GRCm39)	G965D	possibly damaging	Het
Terf2	T	C	8: 107,799,257 (GRCm39)	N389S	possibly damaging	Het
Vsig10l	T	C	7: 43,115,888 (GRCm39)	S410P	probably damaging	Het
Vwa3b	A	T	1: 37,225,985 (GRCm39)		probably benign	Het

Other mutations in Tcof1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-12-18