Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4737:Tcof1'

511762

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 #

FR4737 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

60813755-60848971 bp(-) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

GGGTA to G at 60828650 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134755 (fasta)

Gene Model

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

AlphaFold

O08784

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: ENSMUST00000175934

SMART Domains

Protein: ENSMUSP00000135639
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	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 benign
Transcript: ENSMUST00000176630

SMART Domains

Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613

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

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 97.0%

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: 211 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TCT	TCTCCT	12: 110,668,448		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
4930402H24Rik	CC	CCTGC	2: 130,770,752		probably benign	Het
4932415D10Rik	TTCA	T	10: 82,285,469		probably benign	Homo
4932438A13Rik	TTATTAT	TTATTATTATTATTACTATTAT	3: 37,050,754		probably benign	Het
A630001G21Rik	CTGTT	CT	1: 85,723,135		probably benign	Homo
Abcb11	C	A	2: 69,243,518	R1221L	probably damaging	Homo
Abcb4	GAAA	G	5: 8,896,597		probably benign	Homo
Ahdc1	CT	CTCGT	4: 133,062,759		probably benign	Homo
Alpk3	TCT	TCTACT	7: 81,077,762		probably benign	Het
Amfr	C	G	8: 94,005,159	G30R	probably damaging	Homo
Ankrd35	GC	GCTAC	3: 96,683,849		probably benign	Homo
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CAATAAAGC	CAATAAAGCTAATAAAGC	18: 34,281,999		probably benign	Homo
Apol6	GTTT	GTTTCTTT	15: 77,051,442		probably null	Homo
Arpc1b	GGTGGC	GGTGGCGTGGC	5: 145,126,787		probably null	Het
AY358078	C	T	14: 51,805,698	S281L	unknown	Homo
BC051142	CAG	CAGAAG	17: 34,460,051		probably benign	Het
BC051142	GCA	GCATCA	17: 34,460,068		probably benign	Het
Blm	ACCTGC	ACCTGCCTGC	7: 80,463,771		probably null	Het
Blm	T	TACCA	7: 80,463,774		probably null	Het
Blzf1	TTGT	TT	1: 164,303,917		probably null	Homo
Btnl10	A	AAGG	11: 58,923,931		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,720		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,726		probably benign	Homo
Catsper2	TTC	TTCTTTTACTTTGTC	2: 121,397,540		probably benign	Homo
Ccdc170	ACC	ACCTCC	10: 4,561,023		probably benign	Het
Ccdc170	AC	ACCCC	10: 4,561,029		probably benign	Het
Ccdc73	TAAG	T	2: 104,991,840		probably benign	Homo
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdan1	A	C	2: 120,724,971	V763G	probably damaging	Het
Cdk6	A	G	5: 3,344,211		probably benign	Het
Cdx1	TGCTGC	TGCTGCCGCTGC	18: 61,019,874		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,019,878		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,638,930		probably benign	Homo
Chd4	GC	GCTCCCCC	6: 125,122,131		probably benign	Homo
Cluh	CCCCGAGCC	CCCCGAGCCCGAGCC	11: 74,669,514		probably benign	Het
Cluh	AGCCTG	AGCCTGCGCCTG	11: 74,669,519		probably benign	Het
Cluh	GAGCCT	GAGCCTAAGCCT	11: 74,669,524		probably benign	Het
Cluh	CC	CCTGAGGC	11: 74,669,533		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,569		probably benign	Het
Cntnap1	GCCCCA	GCCCCAACCCCA	11: 101,189,576		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,189,582		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,189,590		probably benign	Het
Cul9	CTCTTC	CTCTTCTTC	17: 46,500,846		probably benign	Het
Cul9	CTC	CTCTTC	17: 46,500,858		probably benign	Het
Cyth2	C	A	7: 45,813,042	S102I	possibly damaging	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,686		probably benign	Het
Dbr1	GGAGG	GGAGGACGAGG	9: 99,583,699		probably benign	Het
Dhx8	GACCGA	GACCGATACCGA	11: 101,738,179		probably benign	Homo
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,738,182		probably benign	Homo
Dhx8	GAGACC	GAGACCCAGACC	11: 101,738,189		probably benign	Homo
Dnah8	ACTGCCCCT	ACT	17: 30,635,465		probably benign	Het
Dnah8	CCTCCCG	C	17: 30,635,477		probably benign	Homo
Dnajb5	AGGTG	A	4: 42,957,126		probably null	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
E4f1	CCG	CCGACG	17: 24,455,192		probably benign	Homo
Eif3a	TTA	TTATTATA	19: 60,775,289		probably benign	Het
Fam81b	TTC	TTCGTC	13: 76,271,319		probably benign	Het
Fbxo22	G	A	9: 55,209,382	R56H	probably damaging	Het
Fcgr1	CTTCT	C	3: 96,284,504		probably null	Het
Fcgr1	T	C	3: 96,287,094	D159G	probably benign	Homo
Fmn1	CCTCCT	CCTCCTACTCCT	2: 113,525,778		probably benign	Het
Fmn1	CC	CCCCCTGC	2: 113,525,781		probably benign	Het
Fmn1	CC	CCTCCTTC	2: 113,525,784		probably benign	Het
G530012D18Rik	GA	GACAGAGATA	1: 85,577,178		probably null	Het
Gli3	G	A	13: 15,644,357	R248H	probably damaging	Het
Gm16503	G	A	4: 147,541,253	G68E	unknown	Het
Gm19345	GGATGGCAGGTG	GG	7: 19,857,602		probably null	Het
Gm4340	GCA	GCAACA	10: 104,196,077		probably benign	Het
Gm4340	AGC	AGCTGC	10: 104,196,097		probably benign	Het
Gm4340	AG	AGCGG	10: 104,196,100		probably benign	Het
Gm6309	C	T	5: 146,168,183	V307I	probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 78,842,171		probably benign	Het
Gpatch11	AGGAA	AGGAAGCGGAA	17: 78,842,180		probably benign	Het
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Hrh1	T	C	6: 114,481,123	I455T	possibly damaging	Het
Hspa1b	GCGCC	GC	17: 34,957,129		probably benign	Homo
Iba57	GAAA	GAAAAA	11: 59,161,505		probably null	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 68,226,181		probably benign	Het
Il17rd	CGG	CGGAGG	14: 27,082,680		probably benign	Het
Il2	AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTG	3: 37,125,764		probably benign	Het
Il2	TGG	TGGGGCTTGAAGCGG	3: 37,125,828		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Klra2	G	GAAATCCACAT	6: 131,221,852		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,366		probably benign	Het
Kmt2b	CCTCCT	CCTCCTTCTCCT	7: 30,586,367		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,370		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,378		probably benign	Het
Krt10	TCCGCC	TCCGCCGCC	11: 99,386,197		probably benign	Homo
Krt10	TCCTCC	TCCTCCGCCTCC	11: 99,389,273		probably benign	Het
Krt10	TCC	TCCTCCACC	11: 99,389,279		probably benign	Homo
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,042,123		probably benign	Homo
Krtap4-2	A	ACAC	11: 99,635,013		probably benign	Het
Krtap9-3	AC	ACAGGTGTCGC	11: 99,598,004		probably benign	Het
Las1l	AGG	AGGGGG	X: 95,940,821		probably benign	Het
Las1l	AGG	AGGCGG	X: 95,940,827		probably benign	Het
Las1l	GAG	GAGCAG	X: 95,940,829		probably benign	Het
Lrit3	TGC	TGCAGC	3: 129,788,806		probably benign	Het
Lrit3	GCT	GCTTCT	3: 129,788,810		probably benign	Het
Lrit3	AC	ACATTC	3: 129,803,913		probably null	Homo
Luzp1	A	AGGTGGCCTCTTCAGT	4: 136,543,196		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,835		probably benign	Het
Mamld1	GCA	GCAACA	X: 71,118,839		probably benign	Het
Mapk8ip3	G	A	17: 24,902,119		probably null	Homo
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Nat8f2	T	A	6: 85,867,686	L231F	possibly damaging	Homo
Nfxl1	CC	CCGGGGAC	5: 72,559,121		probably benign	Het
Noc2l	GCT	GCTTCT	4: 156,240,094		probably benign	Het
Noc2l	CTG	CTGTTG	4: 156,240,095		probably benign	Het
Noc2l	GGTAG	GG	4: 156,241,501		probably benign	Homo
Nxpe5	C	T	5: 138,229,934		probably benign	Het
Olfr1038-ps	CAG	CAGAG	2: 86,122,760		probably null	Homo
Olfr418	GGGCTGCTTGTGGCAAT	G	1: 173,270,630		probably null	Het
Olfr568	CT	CTAATTGCCTT	7: 102,877,233		probably benign	Homo
Olfr644	G	C	7: 104,071,292		probably benign	Homo
Olfr890	A	G	9: 38,143,188	I13V	probably benign	Homo
Osmr	C	CTCA	15: 6,837,706		probably null	Homo
Patl2	CTG	CTGTTG	2: 122,126,136		probably benign	Het
Patl2	GC	GCTAC	2: 122,126,144		probably null	Het
Patl2	C	CTGA	2: 122,126,145		probably benign	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,279,367		probably null	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,506		probably benign	Het
Phc1	GCTG	GCTGCTTCTG	6: 122,323,598		probably benign	Het
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pitrm1	TTTTA	T	13: 6,560,596		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,819,680		probably benign	Homo
Pla2g4e	AGGG	A	2: 120,244,724		probably benign	Homo
Plekhs1	AC	ACCTCCCCCGAGCC	19: 56,479,863		probably benign	Het
Pnmal1	CCTCATGATGCACCTGCTTCAACATC	CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC	7: 16,961,425		probably benign	Homo
Pnmal2	TGGA	T	7: 16,946,006		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Prr13	CTC	CTCATC	15: 102,462,173		probably benign	Het
Prss41	CACA	C	17: 23,844,097		probably benign	Het
Prtg	GTAAC	G	9: 72,857,081		probably benign	Het
Ptk2b	C	T	14: 66,173,849	R411Q	possibly damaging	Homo
Ptms	TCT	TCTGCT	6: 124,914,457		probably benign	Homo
Ptms	TTC	TTCGTC	6: 124,914,459		probably benign	Homo
Ptms	C	CTTG	6: 124,914,461		probably benign	Homo
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Rab3il1	C	A	19: 10,033,751	A264E	probably damaging	Homo
Rbm6	GCTGT	G	9: 107,782,755		probably null	Homo
Rtbdn	TAG	TAGGGGCAG	8: 84,956,161		probably benign	Het
Rtbdn	AGCG	AGCGTCCGCG	8: 84,956,168		probably benign	Het
Rtbdn	CGGC	CGGCAGGGGC	8: 84,956,176		probably benign	Het
Rtbdn	GGC	GGCAGCTGC	8: 84,956,177		probably benign	Het
Sbp	CAAAG	CAAAGCTGCTGACAAAAAAG	17: 23,945,382		probably benign	Het
Sbp	G	GCTGACAACAAAGATC	17: 23,945,389		probably benign	Het
Setd1a	GTGGTAGTG	GTGGTAGTGTTGGTAGTG	7: 127,785,312		probably benign	Het
Sfswap	GCCCACTC	GCCCACTCATCCCACTC	5: 129,569,756		probably benign	Het
Six3	GGC	GGCAGC	17: 85,621,357		probably benign	Het
Six3	GCG	GCGCCG	17: 85,621,358		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,362		probably benign	Het
Six3	GGC	GGCAGC	17: 85,621,363		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,365		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,368		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACTCC	2: 125,154,214		probably benign	Homo
Smarca2	CAGCAGCAGCAGCAGCAGCA	CAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,999		probably benign	Homo
Spaca1	TCGCTC	TCGCTCGCGCTC	4: 34,049,836		probably benign	Het
Spag1	TTC	TTCGTC	15: 36,197,733		probably benign	Het
Spag17	AGG	AGGCGG	3: 100,056,257		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Srpk2	T	C	5: 23,545,196		probably null	Homo
Sry	GTG	GTGTTG	Y: 2,662,837		probably benign	Homo
Sry	TGG	TGGGGG	Y: 2,662,838		probably benign	Homo
Sry	AACTGCT	A	Y: 2,663,195		probably benign	Het
St5	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,556,921		probably benign	Het
Stard9	C	CTAAGGGACTAGTAGG	2: 120,696,085		probably benign	Het
Supt20	GCAGCA	GCAGCAACAGCA	3: 54,727,657		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,658		probably benign	Het
Supt20	CAGCAG	CAGCAGAAGCAG	3: 54,727,661		probably benign	Het
Tdpoz3	A	C	3: 93,826,674	N219H	probably benign	Het
Tesk1	C	CCCCG	4: 43,447,004		probably null	Homo
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Tob1	GCA	GCAACA	11: 94,214,464		probably benign	Het
Tob1	A	AGCC	11: 94,214,478		probably benign	Het
Trav15-2-dv6-2	AG	AGAGG	14: 53,649,756		probably benign	Homo
Trav15-2-dv6-2	G	GAAA	14: 53,649,757		probably benign	Homo
Trim63	GAGT	G	4: 134,327,725		probably benign	Het
Tsen2	G	GAGA	6: 115,560,077		probably benign	Het
Ttf2	TC	TCCCC	3: 100,963,160		probably benign	Homo
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,335,313		probably benign	Homo
Ubqlnl	TGAG	T	7: 104,149,835		probably benign	Homo
Ubtf	CCT	CCTACT	11: 102,306,948		probably null	Het
Ubtf	TCC	TCCACC	11: 102,306,950		probably benign	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Wasf3	G	T	5: 146,470,250	R460L	probably damaging	Het
Zc3h13	ATGTGCGAG	ATGTGCGAGGTGTGCGAG	14: 75,323,596		probably benign	Homo
Zc3h13	TGCGAGATG	TGCGAGATGAGCGAGATG	14: 75,323,599		probably benign	Homo
Zfhx3	GCAACA	GCAACAACAACAACA	8: 108,956,088		probably benign	Het
Zfhx3	AGCA	AGCAACAGACGCA	8: 108,956,102		probably benign	Het
Zfhx3	GCA	GCAACAGCACCA	8: 108,956,103		probably benign	Het
Zfp111	TCA	TCAACA	7: 24,199,805		probably benign	Homo
Zfp112	CATGA	CATGATGA	7: 24,125,407		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp282	CGG	CGGGGG	6: 47,904,790		probably benign	Het
Zfp282	CGG	CGGGGG	6: 47,904,799		probably benign	Het
Zfp335	CTC	CTCGTC	2: 164,907,474		probably benign	Het
Zfp335	TCC	TCCGCC	2: 164,907,475		probably benign	Het
Zfp335	TC	TCCCC	2: 164,907,484		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758		probably benign	Het
Zfp462	ACC	ACCTCAGCCACAGTCGCC	4: 55,009,760		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,776		probably benign	Het
Zfp598	ACCACC	ACCACCGCCACC	17: 24,680,782		probably benign	Het
Zfp598	AC	ACCACCGC	17: 24,680,791		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,471		probably benign	Het
Zfp831	CTC	CTCATC	2: 174,645,476		probably benign	Het
Zfp831	TC	TCCGC	2: 174,645,483		probably benign	Het
Zfp93	CAGGCATAG	CAG	7: 24,275,389		probably benign	Homo
Zscan10	TGACG	TG	17: 23,609,445		probably benign	Homo

Other mutations in Tcof1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Tcof1	APN	18	60814568	unclassified	probably benign
IGL01339:Tcof1	APN	18	60818095	utr 3 prime	probably benign
IGL02072:Tcof1	APN	18	60831565	missense	possibly damaging	0.85
IGL02160:Tcof1	APN	18	60848743	unclassified	probably benign
IGL02513:Tcof1	APN	18	60831778	missense	possibly damaging	0.51
IGL02823:Tcof1	APN	18	60816048	missense	probably benign	0.00
IGL03161:Tcof1	APN	18	60833488	missense	possibly damaging	0.86
IGL03291:Tcof1	APN	18	60829061	missense	possibly damaging	0.71
FR4304:Tcof1	UTSW	18	60835742	unclassified	probably benign
FR4589:Tcof1	UTSW	18	60828650	critical splice donor site	probably benign
PIT4802001:Tcof1	UTSW	18	60831938	missense	unknown
R0569:Tcof1	UTSW	18	60829035	missense	possibly damaging	0.85
R0602:Tcof1	UTSW	18	60833533	missense	probably damaging	1.00
R0744:Tcof1	UTSW	18	60845832	missense	probably damaging	1.00
R0782:Tcof1	UTSW	18	60816280	missense	probably damaging	0.97
R0833:Tcof1	UTSW	18	60845832	missense	probably damaging	1.00
R0836:Tcof1	UTSW	18	60845832	missense	probably damaging	1.00
R0885:Tcof1	UTSW	18	60835850	missense	possibly damaging	0.84
R1465:Tcof1	UTSW	18	60818954	splice site	probably benign
R1528:Tcof1	UTSW	18	60814999	nonsense	probably null
R1643:Tcof1	UTSW	18	60816228	missense	possibly damaging	0.72
R1919:Tcof1	UTSW	18	60816084	missense	possibly damaging	0.85
R1920:Tcof1	UTSW	18	60838855	missense	possibly damaging	0.87
R1921:Tcof1	UTSW	18	60838855	missense	possibly damaging	0.87
R2023:Tcof1	UTSW	18	60833533	missense	probably damaging	1.00
R2108:Tcof1	UTSW	18	60835773	missense	probably damaging	0.97
R2114:Tcof1	UTSW	18	60832785	missense	possibly damaging	0.85
R2115:Tcof1	UTSW	18	60832785	missense	possibly damaging	0.85
R2116:Tcof1	UTSW	18	60832785	missense	possibly damaging	0.85
R2117:Tcof1	UTSW	18	60832785	missense	possibly damaging	0.85
R2156:Tcof1	UTSW	18	60831829	missense	possibly damaging	0.92
R2221:Tcof1	UTSW	18	60837901	missense	possibly damaging	0.51
R2229:Tcof1	UTSW	18	60832177	intron	probably benign
R2913:Tcof1	UTSW	18	60816084	missense	possibly damaging	0.85
R2914:Tcof1	UTSW	18	60816084	missense	possibly damaging	0.85
R3944:Tcof1	UTSW	18	60822837	missense	probably damaging	0.98
R3979:Tcof1	UTSW	18	60831533	missense	possibly damaging	0.71
R4049:Tcof1	UTSW	18	60832903	missense	possibly damaging	0.84
R4125:Tcof1	UTSW	18	60819601	missense	unknown
R5047:Tcof1	UTSW	18	60831914	missense	possibly damaging	0.86
R5433:Tcof1	UTSW	18	60818033	utr 3 prime	probably benign
R5546:Tcof1	UTSW	18	60831556	missense	possibly damaging	0.85
R5832:Tcof1	UTSW	18	60819539	missense	unknown
R5965:Tcof1	UTSW	18	60833418	critical splice donor site	probably null
R6301:Tcof1	UTSW	18	60828825	missense	probably damaging	0.97
R6480:Tcof1	UTSW	18	60814780	splice site	probably null
R6910:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R6911:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R7105:Tcof1	UTSW	18	60843296	missense	probably damaging	1.00
R7225:Tcof1	UTSW	18	60828448	missense	unknown
R7356:Tcof1	UTSW	18	60818094	missense	unknown
R7467:Tcof1	UTSW	18	60831905	missense	unknown
R7536:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R7804:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R7818:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R7863:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8006:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8007:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8008:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8063:Tcof1	UTSW	18	60838762	missense	probably damaging	1.00
R8192:Tcof1	UTSW	18	60843303	missense	probably damaging	1.00
R8200:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8203:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8204:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8207:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8217:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8300:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8517:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8518:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8553:Tcof1	UTSW	18	60831571	missense	possibly damaging	0.92
R8729:Tcof1	UTSW	18	60829073	missense	unknown
R8732:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R8749:Tcof1	UTSW	18	60829051	missense	possibly damaging	0.84
R9800:Tcof1	UTSW	18	60816486	missense	unknown
RF001:Tcof1	UTSW	18	60835739	unclassified	probably benign
RF007:Tcof1	UTSW	18	60833568	small insertion	probably benign
RF009:Tcof1	UTSW	18	60835743	unclassified	probably benign
RF010:Tcof1	UTSW	18	60835744	unclassified	probably benign
RF011:Tcof1	UTSW	18	60835739	unclassified	probably benign
RF013:Tcof1	UTSW	18	60835743	unclassified	probably benign
RF015:Tcof1	UTSW	18	60833584	small insertion	probably benign
RF016:Tcof1	UTSW	18	60833575	small insertion	probably benign
RF022:Tcof1	UTSW	18	60835735	unclassified	probably benign
RF024:Tcof1	UTSW	18	60835738	unclassified	probably benign
RF027:Tcof1	UTSW	18	60835736	unclassified	probably benign
RF029:Tcof1	UTSW	18	60835735	unclassified	probably benign
RF029:Tcof1	UTSW	18	60835745	unclassified	probably benign
RF030:Tcof1	UTSW	18	60833568	small insertion	probably benign
RF030:Tcof1	UTSW	18	60833574	small insertion	probably benign
RF030:Tcof1	UTSW	18	60835723	unclassified	probably benign
RF031:Tcof1	UTSW	18	60833565	small insertion	probably benign
RF031:Tcof1	UTSW	18	60835745	unclassified	probably benign
RF035:Tcof1	UTSW	18	60833553	small insertion	probably benign
RF036:Tcof1	UTSW	18	60828408	small insertion	probably benign
RF036:Tcof1	UTSW	18	60835736	unclassified	probably benign
RF038:Tcof1	UTSW	18	60833566	small insertion	probably benign
RF040:Tcof1	UTSW	18	60828408	small insertion	probably benign
RF040:Tcof1	UTSW	18	60833583	small insertion	probably benign
RF041:Tcof1	UTSW	18	60833572	small insertion	probably benign
RF041:Tcof1	UTSW	18	60833576	small insertion	probably benign
RF043:Tcof1	UTSW	18	60833572	small insertion	probably benign
RF050:Tcof1	UTSW	18	60833579	small insertion	probably benign
RF051:Tcof1	UTSW	18	60833579	small insertion	probably benign
RF053:Tcof1	UTSW	18	60835747	unclassified	probably benign
RF056:Tcof1	UTSW	18	60833575	small insertion	probably benign
RF057:Tcof1	UTSW	18	60833564	small insertion	probably benign
RF057:Tcof1	UTSW	18	60833565	small insertion	probably benign
RF057:Tcof1	UTSW	18	60833566	small insertion	probably benign
RF057:Tcof1	UTSW	18	60833571	small insertion	probably benign
RF060:Tcof1	UTSW	18	60835744	unclassified	probably benign
RF060:Tcof1	UTSW	18	60835747	unclassified	probably benign
RF063:Tcof1	UTSW	18	60833573	small insertion	probably benign
RF064:Tcof1	UTSW	18	60833571	small insertion	probably benign
RF064:Tcof1	UTSW	18	60833574	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGCTGTCTGAGTCCTCTG -3'
(R):5'- CAGGGAAAACCACCTGTTCC -3'

Sequencing Primer
(F):5'- TGGGTAGCTGAAGATCCCGTC -3'
(R):5'- TGTTCCGAACAGCACCGTC -3'

Posted On

2018-04-05