Mutagenetix > Incidental Mutation

Incidental Mutation 'R8217:Tcof1'

636444

Institutional Source

Beutler Lab

Gene Symbol

Tcof1

Ensembl Gene

ENSMUSG00000024613

Gene Name

treacle ribosome biogenesis factor 1

Synonyms

treacle

MMRRC Submission

067658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60946827-60982043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 60962123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 702 (A702G)

Ref Sequence

ENSEMBL: ENSMUSP00000130454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163446] [ENSMUST00000175934] [ENSMUST00000176630] [ENSMUST00000177172]

AlphaFold

O08784

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163446
AA Change: A702G

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130454
Gene: ENSMUSG00000024613
AA Change: A702G

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

unknown
Transcript: ENSMUST00000175934
AA Change: A702G

SMART Domains

Protein: ENSMUSP00000135639
Gene: ENSMUSG00000024613
AA Change: A702G

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

unknown
Transcript: ENSMUST00000176630
AA Change: A702G

SMART Domains

Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613
AA Change: A702G

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

unknown
Transcript: ENSMUST00000177172
AA Change: A654G

SMART Domains

Protein: ENSMUSP00000134755
Gene: ENSMUSG00000024613
AA Change: A654G

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

Meta Mutation Damage Score

0.2419

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (48/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,037,921 (GRCm39)	L406P	probably damaging	Het
Aph1b	T	C	9: 66,686,554 (GRCm39)	K239E	possibly damaging	Het
Atp13a4	C	A	16: 29,222,619 (GRCm39)	V1102F		Het
B3gat1	G	A	9: 26,668,165 (GRCm39)	A265T	probably damaging	Het
Bod1l	T	C	5: 41,988,850 (GRCm39)	E419G	probably damaging	Het
Ccdc142	T	C	6: 83,080,197 (GRCm39)	L380P	probably damaging	Het
Cd55b	CTTTT	CTTTTT	1: 130,347,337 (GRCm39)		probably null	Het
Cfi	A	C	3: 129,648,650 (GRCm39)	N178T	possibly damaging	Het
Col5a1	T	A	2: 27,812,135 (GRCm39)	D72E	unknown	Het
Cspg4	T	A	9: 56,797,637 (GRCm39)	V1367D	possibly damaging	Het
D5Ertd579e	A	C	5: 36,771,402 (GRCm39)	S998A	probably benign	Het
Ehf	T	C	2: 103,109,976 (GRCm39)	E77G	possibly damaging	Het
Erap1	T	C	13: 74,820,937 (GRCm39)	I662T	probably benign	Het
F11r	GGTGTG	GGTGTGTG	1: 171,290,656 (GRCm39)		probably null	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Klhl8	A	G	5: 104,015,466 (GRCm39)	V486A	possibly damaging	Het
Lrrc72	A	T	12: 36,258,676 (GRCm39)	D60E	probably damaging	Het
Marchf5	C	T	19: 37,185,210 (GRCm39)		probably benign	Het
Mtmr12	T	C	15: 12,259,726 (GRCm39)	I365T	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nod2	A	C	8: 89,390,785 (GRCm39)	D364A	probably benign	Het
Numa1	T	A	7: 101,641,876 (GRCm39)	M108K	possibly damaging	Het
Nutm2	G	T	13: 50,623,759 (GRCm39)	R152L	probably benign	Het
Or14c43	A	G	7: 86,115,390 (GRCm39)	Y257C	probably damaging	Het
Or2t46	A	T	11: 58,471,792 (GRCm39)	M41L	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pak1ip1	T	A	13: 41,166,126 (GRCm39)	S350R	probably benign	Het
Pcdha3	T	C	18: 37,079,974 (GRCm39)	F239L	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,586,092 (GRCm39)	T524I	possibly damaging	Het
Plekhg2	T	A	7: 28,067,717 (GRCm39)	Q245L	probably null	Het
Pola2	T	A	19: 6,013,855 (GRCm39)	K26N	possibly damaging	Het
Prune2	G	T	19: 17,097,480 (GRCm39)	A995S	probably benign	Het
Rap2b	C	A	3: 61,272,551 (GRCm39)	T25K	possibly damaging	Het
Scrib	A	G	15: 75,939,004 (GRCm39)	S165P	probably damaging	Het
Sdk1	A	T	5: 142,197,713 (GRCm39)	H2122L	possibly damaging	Het
Sec24b	A	T	3: 129,834,599 (GRCm39)	F200I	possibly damaging	Het
Sh3rf1	T	C	8: 61,782,964 (GRCm39)	V226A	possibly damaging	Het
Sik1	T	A	17: 32,070,286 (GRCm39)	H141L	probably damaging	Het
Slc9a5	A	T	8: 106,089,956 (GRCm39)	E638V	probably damaging	Het
Slco1a5	A	G	6: 142,221,202 (GRCm39)	C15R	probably benign	Het
Slit1	C	T	19: 41,612,959 (GRCm39)	D854N	possibly damaging	Het
Tec	A	T	5: 72,921,602 (GRCm39)	M372K	probably benign	Het
Tlr2	A	G	3: 83,745,373 (GRCm39)	F237L	probably benign	Het
Trio	A	T	15: 27,819,055 (GRCm39)	L1597Q	probably damaging	Het
Trpa1	A	T	1: 14,957,247 (GRCm39)	M723K	probably damaging	Het
Ttc21a	T	C	9: 119,783,694 (GRCm39)	I592T	probably benign	Het
Vmn2r94	T	C	17: 18,463,986 (GRCm39)	E768G	probably damaging	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zpld1	A	G	16: 55,047,295 (GRCm39)		probably null	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
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
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'- CCTGAATCGAGAGGTGGCAATG -3'
(R):5'- ACTCACACTGCTGTTAGTTGG -3'

Sequencing Primer
(F):5'- AAAGGGCGGCAGTCATCC -3'
(R):5'- CACACTGCTGTTAGTTGGAAGGAG -3'

Posted On

2020-07-13