Mutagenetix > Incidental Mutation

Incidental Mutation 'R5126:Cltc'

393569

Institutional Source

Beutler Lab

Gene Symbol

Cltc

Ensembl Gene

ENSMUSG00000047126

Gene Name

clathrin heavy chain

Synonyms

CHC

MMRRC Submission

042714-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R5126 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

86585177-86648391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86603495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 781 (V781A)

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: V781A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: V781A

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 damaging
Transcript: ENSMUST00000103186
AA Change: V777A

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

SMART Domains

Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: V777A

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

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.0%

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
Adamts13	G	A	2: 26,886,927 (GRCm39)		probably null	Het
Ahdc1	T	A	4: 132,790,833 (GRCm39)	F691L	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep164	A	G	9: 45,698,722 (GRCm39)		probably null	Het
Dchs1	A	G	7: 105,402,724 (GRCm39)	S3273P	probably damaging	Het
Dnajc16	C	A	4: 141,501,820 (GRCm39)	V337L	probably benign	Het
Fstl4	T	C	11: 53,077,388 (GRCm39)	V715A	possibly damaging	Het
Grik1	C	T	16: 87,744,747 (GRCm39)	G502S	probably damaging	Het
Ifi213	A	G	1: 173,417,581 (GRCm39)	V277A	possibly damaging	Het
Ints15	G	T	5: 143,293,701 (GRCm39)	P259T	probably benign	Het
Jph3	T	C	8: 122,479,787 (GRCm39)	V155A	possibly damaging	Het
Katnal2	T	C	18: 77,105,294 (GRCm39)	E51G	probably benign	Het
Kcna2	T	A	3: 107,011,550 (GRCm39)	F44I	probably damaging	Het
Kcna6	T	C	6: 126,715,695 (GRCm39)	E398G	probably damaging	Het
Kif15	A	T	9: 122,804,823 (GRCm39)	H190L	probably damaging	Het
Lmbrd2	A	G	15: 9,194,788 (GRCm39)	R597G	possibly damaging	Het
Lrtm2	T	A	6: 119,294,400 (GRCm39)	M244L	probably benign	Het
Ly6c2	A	C	15: 74,983,492 (GRCm39)	S9A	possibly damaging	Het
Mbd4	T	A	6: 115,825,929 (GRCm39)		probably null	Het
Mfsd2b	A	G	12: 4,916,183 (GRCm39)	I269T	probably benign	Het
Muc6	A	T	7: 141,237,564 (GRCm39)	C218S	probably damaging	Het
Nlrc5	G	T	8: 95,201,299 (GRCm39)	R131L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,359 (GRCm39)	C495S	possibly damaging	Het
Nsf	C	A	11: 103,773,618 (GRCm39)	E299*	probably null	Het
Obscn	T	A	11: 58,967,889 (GRCm39)	E336D	probably damaging	Het
Or14j9	G	T	17: 37,874,719 (GRCm39)	T161K	probably benign	Het
Pan3	A	G	5: 147,464,008 (GRCm39)	N587S	probably benign	Het
Pgap6	T	C	17: 26,340,614 (GRCm39)	I666T	probably damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Plscr4	G	A	9: 92,370,794 (GRCm39)	D254N	probably damaging	Het
Pnma8a	A	C	7: 16,695,242 (GRCm39)	M366L	probably benign	Het
Pnpla7	G	T	2: 24,870,056 (GRCm39)	C12F	possibly damaging	Het
Ptprk	G	T	10: 28,451,640 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,040,790 (GRCm39)	V899A	probably damaging	Het
Ruvbl1	T	A	6: 88,462,883 (GRCm39)	C336S	probably benign	Het
Slc27a5	T	A	7: 12,725,247 (GRCm39)	H400L	probably damaging	Het
Slc66a1	T	C	4: 139,029,843 (GRCm39)	T63A	probably benign	Het
Slco1a4	A	T	6: 141,761,308 (GRCm39)	V435D	possibly damaging	Het
Snx14	A	T	9: 88,264,152 (GRCm39)	Y818N	probably damaging	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tlr11	T	C	14: 50,598,287 (GRCm39)	L91P	probably damaging	Het
Tmem208	T	A	8: 106,061,282 (GRCm39)	F103I	probably benign	Het
Vmn2r3	C	T	3: 64,166,740 (GRCm39)	C797Y	probably damaging	Het
Vwde	T	A	6: 13,187,259 (GRCm39)	M743L	probably benign	Het
Wdcp	C	A	12: 4,900,617 (GRCm39)	R158S	probably damaging	Het
Zfp773	T	C	7: 7,139,623 (GRCm39)	T9A	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCACATTCTGGCATGGATG -3'
(R):5'- AGAAGGACATGCAGCCTTGG -3'

Sequencing Primer
(F):5'- TACTCTAGCAGACCATTCTTACCAGG -3'
(R):5'- CATGCAGCCTTGGGGTCATTTG -3'

Posted On

2016-06-15