Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02888:Cltc'

363080

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cltc

Ensembl Gene

ENSMUSG00000047126

Gene Name

clathrin heavy chain

Synonyms

CHC

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL02888

Quality Score

Status

Chromosome

Chromosomal Location

86585177-86648391 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 86648123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060766] [ENSMUST00000103186]

AlphaFold

Q68FD5

Predicted Effect

probably benign
Transcript: ENSMUST00000060766

SMART Domains

Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126

Domain	Start	End	E-Value	Type
Pfam:Clathrin_propel	19	56	5.3e-10	PFAM
Pfam:Clathrin_propel	152	191	1.5e-11	PFAM
Pfam:Clathrin_propel	202	238	1.2e-11	PFAM
Pfam:Clathrin_propel	257	292	2.2e-8	PFAM
Pfam:Clathrin_propel	300	334	8.6e-10	PFAM
Pfam:Clathrin-link	335	358	1.7e-17	PFAM
Pfam:Clathrin_H_link	360	425	7.1e-35	PFAM
low complexity region	449	462	N/A	INTRINSIC
CLH	541	683	1.65e-41	SMART
CLH	690	832	1.24e-45	SMART
CLH	837	976	6.68e-42	SMART
CLH	983	1128	7.21e-47	SMART
CLH	1132	1273	7.91e-44	SMART
CLH	1278	1424	1.59e-48	SMART
CLH	1427	1586	8.36e-43	SMART
low complexity region	1666	1677	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103186

SMART Domains

Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126

Domain	Start	End	E-Value	Type
Pfam:Clathrin_propel	19	56	2e-7	PFAM
Pfam:Clathrin_propel	148	187	3.8e-9	PFAM
Pfam:Clathrin_propel	198	234	3.8e-9	PFAM
Pfam:Clathrin-link	331	354	3.5e-17	PFAM
Pfam:Clathrin_H_link	356	421	1.9e-35	PFAM
low complexity region	445	458	N/A	INTRINSIC
CLH	537	679	1.65e-41	SMART
CLH	686	828	1.24e-45	SMART
CLH	833	972	6.68e-42	SMART
CLH	979	1124	7.21e-47	SMART
CLH	1128	1269	7.91e-44	SMART
CLH	1274	1420	1.59e-48	SMART
CLH	1423	1582	8.36e-43	SMART
low complexity region	1662	1673	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.] Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,104,610 (GRCm39)	H345R	probably damaging	Het
Afap1l1	T	A	18: 61,881,879 (GRCm39)	Y272F	probably damaging	Het
AI661453	C	A	17: 47,778,329 (GRCm39)		probably benign	Het
Ajap1	T	G	4: 153,516,718 (GRCm39)	I208L	probably benign	Het
Aldh3b2	G	A	19: 4,030,083 (GRCm39)	V356M	probably benign	Het
Angptl7	T	A	4: 148,580,788 (GRCm39)		probably benign	Het
Atp2a3	G	A	11: 72,867,954 (GRCm39)		probably benign	Het
Birc2	T	C	9: 7,819,559 (GRCm39)	D451G	probably benign	Het
Brpf3	G	A	17: 29,047,365 (GRCm39)	R1043H	probably damaging	Het
Cd177	A	G	7: 24,457,862 (GRCm39)	L132P	probably damaging	Het
Chsy3	A	G	18: 59,543,067 (GRCm39)	D735G	probably benign	Het
Cldn8	A	T	16: 88,359,271 (GRCm39)	I218K	probably benign	Het
Col22a1	T	C	15: 71,718,068 (GRCm39)	H619R	unknown	Het
Crxos	G	A	7: 15,636,855 (GRCm39)	E143K	possibly damaging	Het
Dcp1b	A	G	6: 119,197,048 (GRCm39)		probably benign	Het
Ddc	A	G	11: 11,772,297 (GRCm39)		probably benign	Het
Dnajc13	A	T	9: 104,057,261 (GRCm39)		probably benign	Het
Dnajc27	C	T	12: 4,139,186 (GRCm39)	H75Y	possibly damaging	Het
Fgd3	C	T	13: 49,435,292 (GRCm39)		probably null	Het
Gcc2	A	G	10: 58,130,650 (GRCm39)	D1414G	probably damaging	Het
Gtf3c2	G	A	5: 31,331,169 (GRCm39)	P169L	probably damaging	Het
Ighv1-76	T	A	12: 115,811,566 (GRCm39)	S96C	probably damaging	Het
Lmbrd1	T	A	1: 24,754,053 (GRCm39)	I206K	possibly damaging	Het
Lypd5	A	G	7: 24,052,044 (GRCm39)	S120G	probably damaging	Het
Mgat4b	T	A	11: 50,123,159 (GRCm39)	Y249N	probably damaging	Het
Msh4	A	T	3: 153,602,550 (GRCm39)	L32*	probably null	Het
Muc4	A	G	16: 32,575,656 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,177,013 (GRCm39)		probably benign	Het
Nenf	T	C	1: 191,042,118 (GRCm39)	T113A	probably benign	Het
Nup85	A	G	11: 115,469,626 (GRCm39)	D75G	possibly damaging	Het
Nutm1	A	T	2: 112,080,980 (GRCm39)	L438Q	probably damaging	Het
Oas1h	A	T	5: 120,999,610 (GRCm39)	I32F	probably benign	Het
Oasl1	G	A	5: 115,075,241 (GRCm39)	V434M	probably damaging	Het
Or2a5	A	G	6: 42,874,263 (GRCm39)	N293D	probably damaging	Het
Or9s27	T	C	1: 92,516,925 (GRCm39)	L291P	probably damaging	Het
Pde2a	C	A	7: 101,154,276 (GRCm39)	H549Q	probably damaging	Het
Phkb	G	T	8: 86,662,101 (GRCm39)		probably null	Het
Pigm	T	C	1: 172,205,214 (GRCm39)	C317R	probably damaging	Het
Ppl	A	T	16: 4,918,271 (GRCm39)	S470R	possibly damaging	Het
Pramel14	G	A	4: 143,720,669 (GRCm39)	R91W	probably benign	Het
Slc13a4	A	T	6: 35,245,775 (GRCm39)	D623E	probably benign	Het
Stx11	A	G	10: 12,817,359 (GRCm39)	S122P	possibly damaging	Het
Sytl3	A	G	17: 7,000,483 (GRCm39)	T218A	probably benign	Het
Tango6	A	G	8: 107,447,297 (GRCm39)	D565G	probably damaging	Het
Tex14	T	C	11: 87,418,738 (GRCm39)		probably null	Het
Tinag	T	C	9: 76,938,995 (GRCm39)	D161G	probably benign	Het
Vcpip1	T	C	1: 9,795,011 (GRCm39)	D1120G	probably damaging	Het
Zfp446	G	A	7: 12,713,255 (GRCm39)	A98T	probably damaging	Het

Other mutations in Cltc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Cltc	APN	11	86,593,074 (GRCm39)	missense	probably benign	0.43
IGL01503:Cltc	APN	11	86,586,526 (GRCm39)	splice site	probably benign
IGL01649:Cltc	APN	11	86,617,226 (GRCm39)	missense	probably benign	0.16
IGL01896:Cltc	APN	11	86,615,959 (GRCm39)	missense	probably damaging	1.00
IGL02005:Cltc	APN	11	86,621,045 (GRCm39)	missense	possibly damaging	0.86
IGL02125:Cltc	APN	11	86,595,636 (GRCm39)	unclassified	probably benign
IGL02166:Cltc	APN	11	86,594,914 (GRCm39)	missense	probably benign	0.00
IGL02186:Cltc	APN	11	86,595,812 (GRCm39)	missense	possibly damaging	0.55
IGL02186:Cltc	APN	11	86,595,811 (GRCm39)	missense	possibly damaging	0.55
IGL02214:Cltc	APN	11	86,623,412 (GRCm39)	missense	probably benign	0.08
IGL02227:Cltc	APN	11	86,588,166 (GRCm39)	missense	possibly damaging	0.85
IGL02471:Cltc	APN	11	86,608,860 (GRCm39)	missense	probably damaging	1.00
IGL02607:Cltc	APN	11	86,597,540 (GRCm39)	missense	probably benign	0.00
IGL03226:Cltc	APN	11	86,611,113 (GRCm39)	missense	probably damaging	1.00
IGL03337:Cltc	APN	11	86,594,509 (GRCm39)	missense	possibly damaging	0.95
Buckey	UTSW	11	86,611,188 (GRCm39)	missense	probably benign	0.01
fuller	UTSW	11	86,594,986 (GRCm39)	missense	possibly damaging	0.79
Geodesic	UTSW	11	86,624,456 (GRCm39)	missense	probably damaging	0.97
R0468:Cltc	UTSW	11	86,595,452 (GRCm39)	unclassified	probably benign
R0487:Cltc	UTSW	11	86,624,490 (GRCm39)	missense	probably damaging	1.00
R0515:Cltc	UTSW	11	86,599,865 (GRCm39)	missense	probably benign	0.25
R0631:Cltc	UTSW	11	86,603,439 (GRCm39)	missense	probably benign	0.03
R0759:Cltc	UTSW	11	86,627,908 (GRCm39)	missense	probably null	0.91
R1635:Cltc	UTSW	11	86,648,105 (GRCm39)	missense	probably benign	0.00
R1671:Cltc	UTSW	11	86,623,421 (GRCm39)	missense	possibly damaging	0.88
R1695:Cltc	UTSW	11	86,591,886 (GRCm39)	critical splice donor site	probably null
R1737:Cltc	UTSW	11	86,624,553 (GRCm39)	missense	probably damaging	1.00
R1747:Cltc	UTSW	11	86,597,907 (GRCm39)	missense	probably damaging	1.00
R1880:Cltc	UTSW	11	86,603,457 (GRCm39)	missense	probably damaging	1.00
R2291:Cltc	UTSW	11	86,624,448 (GRCm39)	missense	probably benign	0.35
R3031:Cltc	UTSW	11	86,621,158 (GRCm39)	missense	probably damaging	1.00
R4012:Cltc	UTSW	11	86,648,087 (GRCm39)	missense	probably benign	0.12
R4022:Cltc	UTSW	11	86,611,174 (GRCm39)	missense	probably damaging	0.96
R4394:Cltc	UTSW	11	86,624,456 (GRCm39)	missense	probably damaging	0.97
R4654:Cltc	UTSW	11	86,617,196 (GRCm39)	missense	probably benign	0.10
R4807:Cltc	UTSW	11	86,591,902 (GRCm39)	intron	probably benign
R4837:Cltc	UTSW	11	86,586,474 (GRCm39)	missense	probably benign	0.00
R4965:Cltc	UTSW	11	86,598,327 (GRCm39)	missense	probably damaging	0.99
R5072:Cltc	UTSW	11	86,608,794 (GRCm39)	missense	possibly damaging	0.86
R5113:Cltc	UTSW	11	86,613,147 (GRCm39)	missense	probably damaging	0.98
R5126:Cltc	UTSW	11	86,603,495 (GRCm39)	missense	probably damaging	1.00
R5177:Cltc	UTSW	11	86,595,989 (GRCm39)	missense	probably damaging	1.00
R5609:Cltc	UTSW	11	86,621,093 (GRCm39)	missense	probably damaging	0.99
R5610:Cltc	UTSW	11	86,612,472 (GRCm39)	missense	probably benign	0.00
R5677:Cltc	UTSW	11	86,596,068 (GRCm39)	missense	probably damaging	1.00
R5999:Cltc	UTSW	11	86,594,955 (GRCm39)	missense	possibly damaging	0.93
R6197:Cltc	UTSW	11	86,611,188 (GRCm39)	missense	probably benign	0.01
R6198:Cltc	UTSW	11	86,611,188 (GRCm39)	missense	probably benign	0.01
R6264:Cltc	UTSW	11	86,596,084 (GRCm39)	missense	probably damaging	1.00
R6395:Cltc	UTSW	11	86,616,006 (GRCm39)	missense	probably damaging	0.97
R6818:Cltc	UTSW	11	86,595,054 (GRCm39)	missense	possibly damaging	0.86
R6894:Cltc	UTSW	11	86,603,428 (GRCm39)	nonsense	probably null
R7196:Cltc	UTSW	11	86,597,657 (GRCm39)	missense	probably damaging	1.00
R7438:Cltc	UTSW	11	86,616,054 (GRCm39)	missense	probably benign	0.01
R7621:Cltc	UTSW	11	86,598,312 (GRCm39)	missense	probably benign	0.03
R7637:Cltc	UTSW	11	86,621,158 (GRCm39)	missense	probably damaging	1.00
R7729:Cltc	UTSW	11	86,612,474 (GRCm39)	missense	probably benign
R7769:Cltc	UTSW	11	86,610,319 (GRCm39)	missense	probably damaging	1.00
R7817:Cltc	UTSW	11	86,615,949 (GRCm39)	missense	probably damaging	1.00
R7944:Cltc	UTSW	11	86,627,967 (GRCm39)	missense	probably benign	0.01
R7945:Cltc	UTSW	11	86,627,967 (GRCm39)	missense	probably benign	0.01
R8040:Cltc	UTSW	11	86,616,031 (GRCm39)	missense	probably damaging	1.00
R8105:Cltc	UTSW	11	86,598,438 (GRCm39)	missense	probably damaging	0.98
R8203:Cltc	UTSW	11	86,594,986 (GRCm39)	missense	possibly damaging	0.79
R8297:Cltc	UTSW	11	86,603,457 (GRCm39)	missense	probably damaging	1.00
R8304:Cltc	UTSW	11	86,616,087 (GRCm39)	missense	probably benign	0.01
R8419:Cltc	UTSW	11	86,598,392 (GRCm39)	missense	probably benign	0.01
R8673:Cltc	UTSW	11	86,648,201 (GRCm39)	start gained	probably benign
R8940:Cltc	UTSW	11	86,621,072 (GRCm39)	missense	probably benign	0.30
R8958:Cltc	UTSW	11	86,586,403 (GRCm39)	missense	possibly damaging	0.86
R9182:Cltc	UTSW	11	86,595,982 (GRCm39)	missense	probably damaging	1.00
R9188:Cltc	UTSW	11	86,627,992 (GRCm39)	missense	probably damaging	0.98
R9293:Cltc	UTSW	11	86,603,446 (GRCm39)	missense	possibly damaging	0.47
R9456:Cltc	UTSW	11	86,593,237 (GRCm39)	missense	probably benign	0.38
R9559:Cltc	UTSW	11	86,613,086 (GRCm39)	missense	probably damaging	1.00
R9576:Cltc	UTSW	11	86,593,237 (GRCm39)	missense	probably benign	0.38
R9578:Cltc	UTSW	11	86,593,237 (GRCm39)	missense	probably benign	0.38
Z1176:Cltc	UTSW	11	86,593,458 (GRCm39)	missense	probably benign	0.16

Posted On

2015-12-18