Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01503:Cltc'

88972

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 #

IGL01503

Quality Score

Status

Chromosome

Chromosomal Location

86585177-86648391 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 86586526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060766] [ENSMUST00000103186] [ENSMUST00000108021] [ENSMUST00000108022]

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: ENSMUST00000108021

SMART Domains

Protein: ENSMUSP00000103656
Gene: ENSMUSG00000072582

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:PTH2	66	181	4.7e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108022

SMART Domains

Protein: ENSMUSP00000103657
Gene: ENSMUSG00000072582

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:PTH2	67	181	1.9e-51	PFAM

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	A	16: 88,971,757 (GRCm39)	Y26*	probably null	Het
Aadacl4fm4	T	A	4: 144,401,137 (GRCm39)	I116F	probably damaging	Het
Arpc1a	T	C	5: 145,032,964 (GRCm39)	V91A	probably damaging	Het
Atp2a1	T	A	7: 126,047,750 (GRCm39)	I687F	probably damaging	Het
B3gnt5	A	C	16: 19,588,531 (GRCm39)	Y250S	probably damaging	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
C1s2	T	C	6: 124,602,612 (GRCm39)	D527G	probably damaging	Het
Chrna5	T	A	9: 54,905,455 (GRCm39)		probably benign	Het
Dgkh	T	G	14: 78,853,710 (GRCm39)	I439L	possibly damaging	Het
Dnajc16	G	A	4: 141,491,008 (GRCm39)	T714I	possibly damaging	Het
Fam13a	A	T	6: 58,933,065 (GRCm39)	I349N	probably damaging	Het
Fig4	C	T	10: 41,132,514 (GRCm39)	D431N	probably benign	Het
Gabra4	A	T	5: 71,798,429 (GRCm39)	N183K	possibly damaging	Het
Ggt5	C	T	10: 75,445,944 (GRCm39)		probably benign	Het
Hdac6	A	G	X: 7,798,418 (GRCm39)	L798P	probably damaging	Het
Hectd4	T	C	5: 121,456,714 (GRCm39)	V2030A	probably benign	Het
Hecw2	A	G	1: 53,866,120 (GRCm39)	Y1514H	probably damaging	Het
Hmcn1	T	C	1: 150,480,823 (GRCm39)	D4451G	probably benign	Het
Krtcap3	T	C	5: 31,409,167 (GRCm39)		probably benign	Het
Ltn1	A	T	16: 87,217,695 (GRCm39)		probably benign	Het
Mapkapk2	T	C	1: 130,986,499 (GRCm39)	M1V	probably null	Het
Mical3	A	T	6: 120,935,537 (GRCm39)	I1663N	probably benign	Het
Mvp	G	T	7: 126,601,133 (GRCm39)		probably benign	Het
Myo5c	A	G	9: 75,170,324 (GRCm39)	I485V	probably damaging	Het
N4bp2	T	A	5: 65,960,890 (GRCm39)	C520*	probably null	Het
Nos2	A	G	11: 78,836,689 (GRCm39)		probably benign	Het
Ogdh	G	A	11: 6,305,069 (GRCm39)	V925M	probably damaging	Het
Pde2a	T	A	7: 101,151,143 (GRCm39)		probably benign	Het
Plpp6	A	G	19: 28,942,279 (GRCm39)	*293W	probably null	Het
Pole	T	A	5: 110,451,750 (GRCm39)	I864K	probably damaging	Het
Rexo4	A	T	2: 26,850,645 (GRCm39)	I239N	probably benign	Het
Scn1a	T	A	2: 66,152,687 (GRCm39)	I748F	probably damaging	Het
Sfmbt2	A	T	2: 10,584,165 (GRCm39)	R841*	probably null	Het
Sh3bp5l	A	G	11: 58,228,827 (GRCm39)	N100S	probably damaging	Het
Spic	T	A	10: 88,511,623 (GRCm39)	D211V	probably damaging	Het
Stab2	A	G	10: 86,776,477 (GRCm39)		probably benign	Het
Tshr	A	G	12: 91,478,708 (GRCm39)	Y83C	probably damaging	Het
Vsir	A	G	10: 60,204,373 (GRCm39)	E172G	probably damaging	Het
Wwp2	T	C	8: 108,276,413 (GRCm39)	S508P	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
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
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

2013-12-03