Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02125:Cltc'

280837

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: 0.957) question?

Stock #

IGL02125

Quality Score

Status

Chromosome

Chromosomal Location

86585177-86648391 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 86595636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124385

SMART Domains

Protein: ENSMUSP00000117674
Gene: ENSMUSG00000047126

Domain	Start	End	E-Value	Type
Pfam:Clathrin	1	99	4.4e-23	PFAM
low complexity region	203	214	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134999

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,324,974 (GRCm39)	C493*	probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ankrd12	A	G	17: 66,277,139 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,506,413 (GRCm39)	T213I	probably damaging	Het
Baz2b	A	G	2: 59,798,984 (GRCm39)	L380S	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cacna2d2	C	T	9: 107,391,103 (GRCm39)	Q411*	probably null	Het
Cdh19	A	G	1: 110,857,614 (GRCm39)	V240A	possibly damaging	Het
Dclk3	T	A	9: 111,298,175 (GRCm39)	V573E	probably damaging	Het
Dhx29	T	C	13: 113,091,834 (GRCm39)		probably benign	Het
Dip2b	T	C	15: 100,084,131 (GRCm39)	L918P	possibly damaging	Het
Dzip3	A	T	16: 48,747,959 (GRCm39)	N1150K	probably damaging	Het
Fgf5	T	C	5: 98,402,391 (GRCm39)	S41P	possibly damaging	Het
Galc	A	T	12: 98,197,768 (GRCm39)	Y120N	probably damaging	Het
Gldc	T	C	19: 30,124,641 (GRCm39)	N219S	probably benign	Het
Gm11563	A	T	11: 99,549,631 (GRCm39)	V41E	unknown	Het
Gpatch11	T	A	17: 79,147,538 (GRCm39)	N106K	probably benign	Het
Gpx3	A	G	11: 54,798,068 (GRCm39)	N68S	probably damaging	Het
Ibtk	T	C	9: 85,617,123 (GRCm39)	N150D	probably damaging	Het
Iglc2	G	A	16: 19,017,462 (GRCm39)	P48S	probably benign	Het
Itih5	G	A	2: 10,245,798 (GRCm39)	R629H	probably benign	Het
Kank1	T	A	19: 25,388,067 (GRCm39)	V552E	possibly damaging	Het
Kmt2a	T	A	9: 44,759,983 (GRCm39)	H655L	probably damaging	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Mrtfb	A	G	16: 13,218,047 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,984,152 (GRCm39)	Q1768K	possibly damaging	Het
Obscn	A	G	11: 58,913,188 (GRCm39)	I6943T	probably damaging	Het
Or51k2	T	A	7: 103,596,279 (GRCm39)	C169S	probably damaging	Het
Or5ac25	T	C	16: 59,181,879 (GRCm39)	N234S	probably benign	Het
Otud3	A	T	4: 138,624,025 (GRCm39)		probably null	Het
Parp4	A	G	14: 56,827,959 (GRCm39)	K237E	probably benign	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pttg1ip2	T	C	5: 5,500,644 (GRCm39)	*151W	probably null	Het
Rbbp6	T	C	7: 122,570,352 (GRCm39)		probably null	Het
Rdh16	G	T	10: 127,647,188 (GRCm39)		probably benign	Het
Ropn1	A	G	16: 34,487,147 (GRCm39)	T28A	probably benign	Het
Sec24d	T	C	3: 123,152,607 (GRCm39)	V873A	probably damaging	Het
Serpinb3b	T	A	1: 107,082,474 (GRCm39)	L263F	probably damaging	Het
Shq1	T	C	6: 100,607,967 (GRCm39)	T315A	probably benign	Het
Slc13a4	T	C	6: 35,255,223 (GRCm39)	E355G	probably benign	Het
Slc26a9	T	C	1: 131,687,175 (GRCm39)	S445P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc4a10	A	T	2: 62,098,515 (GRCm39)	M550L	probably benign	Het
Spata31e5	T	C	1: 28,815,419 (GRCm39)	N871S	possibly damaging	Het
Syt17	T	C	7: 118,009,197 (GRCm39)	D341G	probably benign	Het
Tmem62	A	G	2: 120,826,993 (GRCm39)	Y430C	probably benign	Het
Upp1	A	G	11: 9,075,650 (GRCm39)		probably benign	Het
Vmn1r91	T	G	7: 19,835,429 (GRCm39)	V116G	probably damaging	Het
Vmn2r101	A	T	17: 19,809,963 (GRCm39)	I250F	possibly damaging	Het
Vmn2r116	T	G	17: 23,616,601 (GRCm39)		probably benign	Het
Vmn2r72	C	T	7: 85,399,919 (GRCm39)	V377I	probably benign	Het
Zfp592	G	T	7: 80,687,932 (GRCm39)	A953S	probably benign	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
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
IGL02888:Cltc	APN	11	86,648,123 (GRCm39)	utr 5 prime	probably benign
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

2015-04-16