Mutagenetix > Incidental Mutation

Incidental Mutation 'R2221:Tcof1'

241521

Institutional Source

Beutler Lab

Gene Symbol

Tcof1

Ensembl Gene

ENSMUSG00000024613

Gene Name

treacle ribosome biogenesis factor 1

Synonyms

treacle

MMRRC Submission

040223-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2221 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60813755-60848971 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60837901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 210 (V210A)

Ref Sequence

ENSEMBL: ENSMUSP00000130454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163446] [ENSMUST00000175934] [ENSMUST00000176630] [ENSMUST00000177172] [ENSMUST00000177343]

AlphaFold

O08784

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163446
AA Change: V210A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130454
Gene: ENSMUSG00000024613
AA Change: V210A

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: V210A

SMART Domains

Protein: ENSMUSP00000135639
Gene: ENSMUSG00000024613
AA Change: V210A

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: V210A

SMART Domains

Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613
AA Change: V210A

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: V210A

SMART Domains

Protein: ENSMUSP00000134755
Gene: ENSMUSG00000024613
AA Change: V210A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177343

SMART Domains

Protein: ENSMUSP00000135295
Gene: ENSMUSG00000024613

Domain	Start	End	E-Value	Type
low complexity region	59	93	N/A	INTRINSIC

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,247,457 (GRCm38)		probably null	Het
Adamtsl1	A	C	4: 86,388,525 (GRCm38)	D1392A	probably benign	Het
Afdn	T	C	17: 13,883,737 (GRCm38)		probably benign	Het
Aph1b	A	T	9: 66,784,639 (GRCm38)	M121K	probably damaging	Het
Aspg	G	A	12: 112,114,434 (GRCm38)	A120T	probably damaging	Het
Bicd1	A	G	6: 149,517,005 (GRCm38)	T725A	probably damaging	Het
Cd1d2	A	T	3: 86,988,540 (GRCm38)	I292F	probably damaging	Het
Cdk13	A	G	13: 17,719,535 (GRCm38)	V495A	probably damaging	Het
Cfd	A	T	10: 79,892,205 (GRCm38)		probably null	Het
Col9a2	C	G	4: 121,054,258 (GRCm38)	R599G	probably damaging	Het
Cradd	A	C	10: 95,175,873 (GRCm38)	V135G	probably benign	Het
Cry1	A	G	10: 85,143,753 (GRCm38)	C460R	probably damaging	Het
Ctu2	A	G	8: 122,480,910 (GRCm38)	E375G	probably damaging	Het
Dym	T	G	18: 75,230,165 (GRCm38)	I580S	probably damaging	Het
Eif3e	A	G	15: 43,251,547 (GRCm38)	L411P	possibly damaging	Het
Emsy	T	C	7: 98,590,775 (GRCm38)	E1091G	possibly damaging	Het
Enkur	A	G	2: 21,189,319 (GRCm38)		probably benign	Het
Fam184a	G	A	10: 53,655,079 (GRCm38)	T733M	probably damaging	Het
Frem2	G	A	3: 53,516,857 (GRCm38)	A3053V	probably benign	Het
Gbgt1	T	C	2: 28,498,423 (GRCm38)	L40P	probably damaging	Het
Gm5174	T	A	10: 86,656,508 (GRCm38)		noncoding transcript	Het
Gys2	G	T	6: 142,456,422 (GRCm38)	D230E	probably damaging	Het
Herc2	T	A	7: 56,169,018 (GRCm38)		probably null	Het
Hps3	A	T	3: 20,002,363 (GRCm38)	S815R	probably benign	Het
Igf1r	C	A	7: 68,201,962 (GRCm38)	S983R	probably damaging	Het
Itsn1	T	A	16: 91,853,768 (GRCm38)		probably benign	Het
Kcnc2	A	G	10: 112,456,526 (GRCm38)	N91D	probably damaging	Het
Kif28	C	A	1: 179,733,111 (GRCm38)	A210S	possibly damaging	Het
Klri2	T	A	6: 129,740,309 (GRCm38)	Q37L	probably damaging	Het
Lrrc38	T	A	4: 143,369,849 (GRCm38)	C243*	probably null	Het
Map3k5	T	C	10: 20,067,920 (GRCm38)	V590A	possibly damaging	Het
Mdn1	C	A	4: 32,763,306 (GRCm38)	F5135L	probably benign	Het
Megf11	G	A	9: 64,660,431 (GRCm38)	G401S	possibly damaging	Het
Mst1r	T	C	9: 107,908,348 (GRCm38)	F402L	probably damaging	Het
Ntrk3	T	C	7: 78,198,852 (GRCm38)	I759V	probably damaging	Het
Nup188	T	C	2: 30,336,924 (GRCm38)		probably benign	Het
Olfr1243	C	T	2: 89,527,937 (GRCm38)	V158I	probably benign	Het
Olfr870	T	C	9: 20,171,092 (GRCm38)	S160G	possibly damaging	Het
Prdm2	T	C	4: 143,134,899 (GRCm38)	N607S	possibly damaging	Het
Prl2a1	T	A	13: 27,806,386 (GRCm38)		probably null	Het
Serpina9	T	A	12: 103,998,264 (GRCm38)	I305F	probably damaging	Het
Setx	GTGGCT	GT	2: 29,154,061 (GRCm38)	1814	probably null	Het
Slc19a1	C	T	10: 77,042,486 (GRCm38)	T285I	probably benign	Het
Snap91	T	C	9: 86,792,527 (GRCm38)	T544A	possibly damaging	Het
Srgap3	A	G	6: 112,946,493 (GRCm38)	S2P	probably damaging	Het
Tex261	A	G	6: 83,771,515 (GRCm38)	I136T	probably benign	Het
Trpa1	A	T	1: 14,903,256 (GRCm38)	F279L	probably null	Het
Ttc39b	T	C	4: 83,232,762 (GRCm38)	N532S	probably benign	Het
Ttn	T	C	2: 76,742,094 (GRCm38)	T26152A	probably damaging	Het
Ube2w	A	G	1: 16,597,959 (GRCm38)	S97P	possibly damaging	Het
Vmn1r25	A	C	6: 57,979,238 (GRCm38)	L22R	probably damaging	Het
Vmn1r64	T	C	7: 5,884,449 (GRCm38)	I32V	probably benign	Het
Vmn2r112	T	G	17: 22,601,233 (GRCm38)	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,624,093 (GRCm38)	M705K	probably benign	Het
Vps13b	G	A	15: 35,884,597 (GRCm38)	V3139I	probably benign	Het
Zfp628	T	C	7: 4,920,831 (GRCm38)	V684A	probably benign	Het

Other mutations in Tcof1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Tcof1	APN	18	60,814,568 (GRCm38)	unclassified	probably benign
IGL01339:Tcof1	APN	18	60,818,095 (GRCm38)	utr 3 prime	probably benign
IGL02072:Tcof1	APN	18	60,831,565 (GRCm38)	missense	possibly damaging	0.85
IGL02160:Tcof1	APN	18	60,848,743 (GRCm38)	unclassified	probably benign
IGL02513:Tcof1	APN	18	60,831,778 (GRCm38)	missense	possibly damaging	0.51
IGL02823:Tcof1	APN	18	60,816,048 (GRCm38)	missense	probably benign	0.00
IGL03161:Tcof1	APN	18	60,833,488 (GRCm38)	missense	possibly damaging	0.86
IGL03291:Tcof1	APN	18	60,829,061 (GRCm38)	missense	possibly damaging	0.71
FR4304:Tcof1	UTSW	18	60,835,742 (GRCm38)	unclassified	probably benign
FR4589:Tcof1	UTSW	18	60,828,650 (GRCm38)	critical splice donor site	probably benign
FR4737:Tcof1	UTSW	18	60,828,650 (GRCm38)	critical splice donor site	probably benign
PIT4802001:Tcof1	UTSW	18	60,831,938 (GRCm38)	missense	unknown
R0569:Tcof1	UTSW	18	60,829,035 (GRCm38)	missense	possibly damaging	0.85
R0602:Tcof1	UTSW	18	60,833,533 (GRCm38)	missense	probably damaging	1.00
R0744:Tcof1	UTSW	18	60,845,832 (GRCm38)	missense	probably damaging	1.00
R0782:Tcof1	UTSW	18	60,816,280 (GRCm38)	missense	probably damaging	0.97
R0833:Tcof1	UTSW	18	60,845,832 (GRCm38)	missense	probably damaging	1.00
R0836:Tcof1	UTSW	18	60,845,832 (GRCm38)	missense	probably damaging	1.00
R0885:Tcof1	UTSW	18	60,835,850 (GRCm38)	missense	possibly damaging	0.84
R1465:Tcof1	UTSW	18	60,818,954 (GRCm38)	splice site	probably benign
R1528:Tcof1	UTSW	18	60,814,999 (GRCm38)	nonsense	probably null
R1643:Tcof1	UTSW	18	60,816,228 (GRCm38)	missense	possibly damaging	0.72
R1919:Tcof1	UTSW	18	60,816,084 (GRCm38)	missense	possibly damaging	0.85
R1920:Tcof1	UTSW	18	60,838,855 (GRCm38)	missense	possibly damaging	0.87
R1921:Tcof1	UTSW	18	60,838,855 (GRCm38)	missense	possibly damaging	0.87
R2023:Tcof1	UTSW	18	60,833,533 (GRCm38)	missense	probably damaging	1.00
R2108:Tcof1	UTSW	18	60,835,773 (GRCm38)	missense	probably damaging	0.97
R2114:Tcof1	UTSW	18	60,832,785 (GRCm38)	missense	possibly damaging	0.85
R2115:Tcof1	UTSW	18	60,832,785 (GRCm38)	missense	possibly damaging	0.85
R2116:Tcof1	UTSW	18	60,832,785 (GRCm38)	missense	possibly damaging	0.85
R2117:Tcof1	UTSW	18	60,832,785 (GRCm38)	missense	possibly damaging	0.85
R2156:Tcof1	UTSW	18	60,831,829 (GRCm38)	missense	possibly damaging	0.92
R2229:Tcof1	UTSW	18	60,832,177 (GRCm38)	intron	probably benign
R2913:Tcof1	UTSW	18	60,816,084 (GRCm38)	missense	possibly damaging	0.85
R2914:Tcof1	UTSW	18	60,816,084 (GRCm38)	missense	possibly damaging	0.85
R3944:Tcof1	UTSW	18	60,822,837 (GRCm38)	missense	probably damaging	0.98
R3979:Tcof1	UTSW	18	60,831,533 (GRCm38)	missense	possibly damaging	0.71
R4049:Tcof1	UTSW	18	60,832,903 (GRCm38)	missense	possibly damaging	0.84
R4125:Tcof1	UTSW	18	60,819,601 (GRCm38)	missense	unknown
R5047:Tcof1	UTSW	18	60,831,914 (GRCm38)	missense	possibly damaging	0.86
R5433:Tcof1	UTSW	18	60,818,033 (GRCm38)	utr 3 prime	probably benign
R5546:Tcof1	UTSW	18	60,831,556 (GRCm38)	missense	possibly damaging	0.85
R5832:Tcof1	UTSW	18	60,819,539 (GRCm38)	missense	unknown
R5965:Tcof1	UTSW	18	60,833,418 (GRCm38)	critical splice donor site	probably null
R6301:Tcof1	UTSW	18	60,828,825 (GRCm38)	missense	probably damaging	0.97
R6480:Tcof1	UTSW	18	60,814,780 (GRCm38)	splice site	probably null
R6910:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R6911:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R7105:Tcof1	UTSW	18	60,843,296 (GRCm38)	missense	probably damaging	1.00
R7225:Tcof1	UTSW	18	60,828,448 (GRCm38)	missense	unknown
R7356:Tcof1	UTSW	18	60,818,094 (GRCm38)	missense	unknown
R7467:Tcof1	UTSW	18	60,831,905 (GRCm38)	missense	unknown
R7536:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R7804:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R7818:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R7863:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8006:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8007:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8008:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8063:Tcof1	UTSW	18	60,838,762 (GRCm38)	missense	probably damaging	1.00
R8192:Tcof1	UTSW	18	60,843,303 (GRCm38)	missense	probably damaging	1.00
R8200:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8203:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8204:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8207:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8217:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8300:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8517:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8518:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8553:Tcof1	UTSW	18	60,831,571 (GRCm38)	missense	possibly damaging	0.92
R8729:Tcof1	UTSW	18	60,829,073 (GRCm38)	missense	unknown
R8732:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R8749:Tcof1	UTSW	18	60,829,051 (GRCm38)	missense	possibly damaging	0.84
R9800:Tcof1	UTSW	18	60,816,486 (GRCm38)	missense	unknown
RF001:Tcof1	UTSW	18	60,835,739 (GRCm38)	unclassified	probably benign
RF007:Tcof1	UTSW	18	60,833,568 (GRCm38)	small insertion	probably benign
RF009:Tcof1	UTSW	18	60,835,743 (GRCm38)	unclassified	probably benign
RF010:Tcof1	UTSW	18	60,835,744 (GRCm38)	unclassified	probably benign
RF011:Tcof1	UTSW	18	60,835,739 (GRCm38)	unclassified	probably benign
RF013:Tcof1	UTSW	18	60,835,743 (GRCm38)	unclassified	probably benign
RF015:Tcof1	UTSW	18	60,833,584 (GRCm38)	small insertion	probably benign
RF016:Tcof1	UTSW	18	60,833,575 (GRCm38)	small insertion	probably benign
RF022:Tcof1	UTSW	18	60,835,735 (GRCm38)	unclassified	probably benign
RF024:Tcof1	UTSW	18	60,835,738 (GRCm38)	unclassified	probably benign
RF027:Tcof1	UTSW	18	60,835,736 (GRCm38)	unclassified	probably benign
RF029:Tcof1	UTSW	18	60,835,735 (GRCm38)	unclassified	probably benign
RF029:Tcof1	UTSW	18	60,835,745 (GRCm38)	unclassified	probably benign
RF030:Tcof1	UTSW	18	60,835,723 (GRCm38)	unclassified	probably benign
RF030:Tcof1	UTSW	18	60,833,574 (GRCm38)	small insertion	probably benign
RF030:Tcof1	UTSW	18	60,833,568 (GRCm38)	small insertion	probably benign
RF031:Tcof1	UTSW	18	60,835,745 (GRCm38)	unclassified	probably benign
RF031:Tcof1	UTSW	18	60,833,565 (GRCm38)	small insertion	probably benign
RF035:Tcof1	UTSW	18	60,833,553 (GRCm38)	small insertion	probably benign
RF036:Tcof1	UTSW	18	60,835,736 (GRCm38)	unclassified	probably benign
RF036:Tcof1	UTSW	18	60,828,408 (GRCm38)	small insertion	probably benign
RF038:Tcof1	UTSW	18	60,833,566 (GRCm38)	small insertion	probably benign
RF040:Tcof1	UTSW	18	60,833,583 (GRCm38)	small insertion	probably benign
RF040:Tcof1	UTSW	18	60,828,408 (GRCm38)	small insertion	probably benign
RF041:Tcof1	UTSW	18	60,833,576 (GRCm38)	small insertion	probably benign
RF041:Tcof1	UTSW	18	60,833,572 (GRCm38)	small insertion	probably benign
RF043:Tcof1	UTSW	18	60,833,572 (GRCm38)	small insertion	probably benign
RF050:Tcof1	UTSW	18	60,833,579 (GRCm38)	small insertion	probably benign
RF051:Tcof1	UTSW	18	60,833,579 (GRCm38)	small insertion	probably benign
RF053:Tcof1	UTSW	18	60,835,747 (GRCm38)	unclassified	probably benign
RF056:Tcof1	UTSW	18	60,833,575 (GRCm38)	small insertion	probably benign
RF057:Tcof1	UTSW	18	60,833,566 (GRCm38)	small insertion	probably benign
RF057:Tcof1	UTSW	18	60,833,565 (GRCm38)	small insertion	probably benign
RF057:Tcof1	UTSW	18	60,833,564 (GRCm38)	small insertion	probably benign
RF057:Tcof1	UTSW	18	60,833,571 (GRCm38)	small insertion	probably benign
RF060:Tcof1	UTSW	18	60,835,744 (GRCm38)	unclassified	probably benign
RF060:Tcof1	UTSW	18	60,835,747 (GRCm38)	unclassified	probably benign
RF063:Tcof1	UTSW	18	60,833,573 (GRCm38)	small insertion	probably benign
RF064:Tcof1	UTSW	18	60,833,574 (GRCm38)	small insertion	probably benign
RF064:Tcof1	UTSW	18	60,833,571 (GRCm38)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TATCCAGAGCAGTACTGAGGTC -3'
(R):5'- CTGTTCCAGCTAGGGGACTTTG -3'

Sequencing Primer
(F):5'- AGAGCAGTACTGAGGTCCTCATTC -3'
(R):5'- TAGCAAGCCCTGTACAGTTG -3'

Posted On

2014-10-15