Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02471:Cltc'

294745

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 #

IGL02471

Quality Score

Status

Chromosome

Chromosomal Location

86585177-86648391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86608860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 723 (V723A)

Ref Sequence

ENSEMBL: ENSMUSP00000050220 (fasta)

Gene Model

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

AlphaFold

Q68FD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000060766
AA Change: V723A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: V723A

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

possibly damaging
Transcript: ENSMUST00000103186
AA Change: V719A

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: V719A

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,297,357 (GRCm39)	H2378N	probably benign	Het
Btaf1	C	A	19: 36,977,592 (GRCm39)	A1470E	probably damaging	Het
Ccdc110	A	G	8: 46,394,793 (GRCm39)	D228G	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cldn18	T	C	9: 99,578,128 (GRCm39)	D205G	probably benign	Het
Clip2	T	C	5: 134,546,876 (GRCm39)	T231A	probably benign	Het
Cpa3	C	T	3: 20,282,971 (GRCm39)		probably null	Het
Cyfip2	T	G	11: 46,091,630 (GRCm39)	T1097P	possibly damaging	Het
Dnah9	T	A	11: 65,838,444 (GRCm39)	R667*	probably null	Het
Dock10	T	C	1: 80,493,339 (GRCm39)	E1878G	probably damaging	Het
Ermap	G	A	4: 119,037,160 (GRCm39)	H353Y	probably damaging	Het
Etfa	A	T	9: 55,393,984 (GRCm39)		probably null	Het
F5	C	T	1: 164,001,860 (GRCm39)	P188S	probably damaging	Het
Foxq1	G	A	13: 31,743,326 (GRCm39)	E143K	possibly damaging	Het
Gsr	C	T	8: 34,172,612 (GRCm39)		probably benign	Het
Hebp1	T	A	6: 135,132,274 (GRCm39)	Y31F	probably benign	Het
Ighv1-14	T	C	12: 114,610,457 (GRCm39)		noncoding transcript	Het
Lamb1	T	A	12: 31,370,907 (GRCm39)	D1319E	probably damaging	Het
Lrp5	A	T	19: 3,652,408 (GRCm39)	V1154E	probably benign	Het
Manba	G	A	3: 135,212,769 (GRCm39)		probably benign	Het
Mknk2	A	T	10: 80,503,955 (GRCm39)	F319I	probably damaging	Het
Mup6	A	T	4: 60,003,971 (GRCm39)		probably benign	Het
Nalcn	T	C	14: 123,560,726 (GRCm39)	T784A	probably benign	Het
Nt5dc1	T	C	10: 34,279,721 (GRCm39)	E107G	probably benign	Het
Or11h6	A	T	14: 50,880,214 (GRCm39)	I159F	probably benign	Het
Or56b34	T	A	7: 104,938,252 (GRCm39)	F317L	probably benign	Het
Or9q2	G	A	19: 13,772,589 (GRCm39)	P129S	probably damaging	Het
Phldb1	T	C	9: 44,622,530 (GRCm39)	E41G	probably damaging	Het
Ptk2	T	C	15: 73,170,036 (GRCm39)	D309G	probably benign	Het
Rab11fip5	A	G	6: 85,325,207 (GRCm39)	S367P	probably damaging	Het
Rb1cc1	T	A	1: 6,310,275 (GRCm39)	N224K	probably benign	Het
Rchy1	A	T	5: 92,105,405 (GRCm39)	C65*	probably null	Het
Rgs18	T	C	1: 144,650,359 (GRCm39)	D56G	probably benign	Het
Rtraf	A	C	14: 19,862,296 (GRCm39)	L197R	probably damaging	Het
Slc44a5	G	T	3: 153,962,213 (GRCm39)	W382L	probably damaging	Het
Snx24	C	T	18: 53,518,241 (GRCm39)		probably benign	Het
Sphkap	T	C	1: 83,253,897 (GRCm39)	D1284G	probably damaging	Het
Tmem54	A	G	4: 129,002,111 (GRCm39)	M53V	probably benign	Het
Trip6	G	A	5: 137,308,618 (GRCm39)	P414S	probably benign	Het
Vmn1r38	A	G	6: 66,753,751 (GRCm39)	Y122H	probably benign	Het
Wapl	T	A	14: 34,413,877 (GRCm39)	N246K	possibly damaging	Het
Zfp12	G	A	5: 143,230,551 (GRCm39)	G293R	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp446	T	G	7: 12,716,181 (GRCm39)	V209G	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	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
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