Mutagenetix > Incidental Mutations

Incidental Mutation 'R7769:Cltc'

598488

Institutional Source

Beutler Lab

Gene Symbol

Cltc

Ensembl Gene

ENSMUSG00000047126

Gene Name

clathrin, heavy polypeptide (Hc)

Synonyms

CHC

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86694351-86757565 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86719493 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 638 (R638H)

Ref Sequence

ENSEMBL: ENSMUSP00000099475 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000060766
AA Change: R642H

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

SMART Domains

Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: R642H

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: R638H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: R638H

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

Meta Mutation Damage Score

0.8773

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (71/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	ACCAGCCC	ACC	14: 118,615,270		probably null	Het
Abhd14b	T	C	9: 106,451,620	Y147H	probably damaging	Het
Adam26b	C	A	8: 43,521,695	R90L	probably benign	Het
Agt	A	T	8: 124,564,550	M6K	probably benign	Het
Akr1c14	T	C	13: 4,059,644	S5P	probably benign	Het
Arhgef38	A	C	3: 133,149,622	S235A	unknown	Het
Cabp5	A	G	7: 13,400,733	D31G	probably benign	Het
Cacna1h	T	A	17: 25,385,805	D1178V	probably damaging	Het
Ccdc88a	A	T	11: 29,482,381	E1199D	probably damaging	Het
Cd244	A	T	1: 171,577,305	I242F	probably benign	Het
Clpb	G	T	7: 101,722,717	R220L	probably damaging	Het
Cnr1	A	T	4: 33,944,892	M427L	probably benign	Het
Ctnnbl1	C	T	2: 157,737,470		probably benign	Het
Epb41l2	A	T	10: 25,493,573	T597S	probably benign	Het
Epb41l3	T	C	17: 69,238,426	Y163H	probably damaging	Het
Fam129b	A	G	2: 32,919,832	T314A	possibly damaging	Het
Fgg	A	G	3: 83,013,126		probably null	Het
Gm37240	A	T	3: 84,509,925	D162E	possibly damaging	Het
Gm44511	T	A	6: 128,820,277	T83S	probably benign	Het
Gm6685	T	A	11: 28,339,252	Y188F	probably benign	Het
Gprin2	A	T	14: 34,195,613	C67S	probably benign	Het
Grk6	A	G	13: 55,451,007	D140G	probably benign	Het
Hps3	T	C	3: 20,018,808		probably null	Het
Hspb7	T	C	4: 141,424,024	V159A	possibly damaging	Het
Ibsp	A	G	5: 104,310,184	N196D	probably damaging	Het
Ibsp	A	G	5: 104,306,005	N70D	probably benign	Het
Igfn1	A	T	1: 135,982,405	F147Y	possibly damaging	Het
Iqca	T	G	1: 90,077,810	D492A	possibly damaging	Het
Klhl42	T	C	6: 147,091,860	L110P	possibly damaging	Het
Krt12	C	T	11: 99,418,026	R395Q	probably damaging	Het
Lig4	A	T	8: 9,973,629	H50Q	possibly damaging	Het
Mttp	A	C	3: 138,103,112	L730R	probably damaging	Het
Muc16	T	A	9: 18,660,507	I239L	unknown	Het
Myo15	T	C	11: 60,509,149	F1723L		Het
Nin	T	C	12: 70,043,230	D1137G		Het
Nsf	C	T	11: 103,928,839	V35M	probably damaging	Het
Numa1	T	A	7: 101,999,000	I646K	possibly damaging	Het
Nwd2	A	G	5: 63,804,504	N477S	probably damaging	Het
Olfr59	T	A	11: 74,288,763	V39E	probably damaging	Het
P4ha3	A	G	7: 100,285,717	D62G	probably damaging	Het
Palb2	G	T	7: 122,128,415	D77E	probably benign	Het
Pcmtd2	T	C	2: 181,851,701	V233A	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pgr	C	T	9: 8,946,855	T699I	possibly damaging	Het
Pknox2	C	A	9: 36,895,306		probably null	Het
Ppp2r3d	T	C	9: 124,439,087	H110R		Het
Psmd11	T	A	11: 80,434,582		probably benign	Het
Pyroxd2	T	C	19: 42,747,562	N59S	probably benign	Het
Qser1	A	T	2: 104,758,576	D1662E	possibly damaging	Het
Rasip1	A	G	7: 45,628,815	Y180C	probably damaging	Het
Rbl1	T	C	2: 157,191,980	S393G	probably benign	Het
Rtn4r	C	T	16: 18,151,289	P194S	probably benign	Het
Ryr1	C	T	7: 29,098,785	G944D	probably damaging	Het
Scamp3	A	G	3: 89,177,991	D23G	probably damaging	Het
Secisbp2l	CTGGG	C	2: 125,771,545		probably benign	Het
Shcbp1	A	G	8: 4,739,232	I529T	probably damaging	Het
Slc5a10	T	A	11: 61,673,647	D502V	probably damaging	Het
Smad5	T	C	13: 56,733,042	I323T	possibly damaging	Het
Spred1	T	C	2: 117,177,449	S279P	probably benign	Het
Stag1	T	A	9: 100,944,827	V949D	possibly damaging	Het
Stxbp3	A	G	3: 108,800,828	S386P	probably benign	Het
Syt14	A	G	1: 192,984,324	S91P	unknown	Het
Thpo	C	T	16: 20,725,651	A211T	probably benign	Het
Tns1	T	A	1: 73,953,371	D716V	probably damaging	Het
Trbv26	A	G	6: 41,227,547	Y8C	probably benign	Het
Tshr	A	G	12: 91,538,270	I661V	probably damaging	Het
Uvrag	G	A	7: 98,979,721	P380S	probably damaging	Het
Vkorc1	G	T	7: 127,894,524	Y88*	probably null	Het
Vmn1r63	C	T	7: 5,803,370	V88M	probably damaging	Het
Wdsub1	A	G	2: 59,878,419	Y37H	probably damaging	Het
Zap70	A	G	1: 36,770,902	D31G	probably benign	Het
Zc3h12d	G	A	10: 7,867,626	A387T	probably benign	Het
Zfp438	C	T	18: 5,213,377	R527H	possibly damaging	Het

Other mutations in Cltc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Cltc	APN	11	86702248	missense	probably benign	0.43
IGL01503:Cltc	APN	11	86695700	splice site	probably benign
IGL01649:Cltc	APN	11	86726400	missense	probably benign	0.16
IGL01896:Cltc	APN	11	86725133	missense	probably damaging	1.00
IGL02005:Cltc	APN	11	86730219	missense	possibly damaging	0.86
IGL02125:Cltc	APN	11	86704810	unclassified	probably benign
IGL02166:Cltc	APN	11	86704088	missense	probably benign	0.00
IGL02186:Cltc	APN	11	86704985	missense	possibly damaging	0.55
IGL02186:Cltc	APN	11	86704986	missense	possibly damaging	0.55
IGL02214:Cltc	APN	11	86732586	missense	probably benign	0.08
IGL02227:Cltc	APN	11	86697340	missense	possibly damaging	0.85
IGL02471:Cltc	APN	11	86718034	missense	probably damaging	1.00
IGL02607:Cltc	APN	11	86706714	missense	probably benign	0.00
IGL02888:Cltc	APN	11	86757297	utr 5 prime	probably benign
IGL03226:Cltc	APN	11	86720287	missense	probably damaging	1.00
IGL03337:Cltc	APN	11	86703683	missense	possibly damaging	0.95
Buckey	UTSW	11	86720362	missense	probably benign	0.01
fuller	UTSW	11	86704160	missense	possibly damaging	0.79
Geodesic	UTSW	11	86733630	missense	probably damaging	0.97
R0468:Cltc	UTSW	11	86704626	unclassified	probably benign
R0487:Cltc	UTSW	11	86733664	missense	probably damaging	1.00
R0515:Cltc	UTSW	11	86709039	missense	probably benign	0.25
R0631:Cltc	UTSW	11	86712613	missense	probably benign	0.03
R0759:Cltc	UTSW	11	86737082	missense	probably null	0.91
R1635:Cltc	UTSW	11	86757279	missense	probably benign	0.00
R1671:Cltc	UTSW	11	86732595	missense	possibly damaging	0.88
R1695:Cltc	UTSW	11	86701060	critical splice donor site	probably null
R1737:Cltc	UTSW	11	86733727	missense	probably damaging	1.00
R1747:Cltc	UTSW	11	86707081	missense	probably damaging	1.00
R1880:Cltc	UTSW	11	86712631	missense	probably damaging	1.00
R2291:Cltc	UTSW	11	86733622	missense	probably benign	0.35
R3031:Cltc	UTSW	11	86730332	missense	probably damaging	1.00
R4012:Cltc	UTSW	11	86757261	missense	probably benign	0.12
R4022:Cltc	UTSW	11	86720348	missense	probably damaging	0.96
R4394:Cltc	UTSW	11	86733630	missense	probably damaging	0.97
R4654:Cltc	UTSW	11	86726370	missense	probably benign	0.10
R4807:Cltc	UTSW	11	86701076	intron	probably benign
R4837:Cltc	UTSW	11	86695648	missense	probably benign	0.00
R4965:Cltc	UTSW	11	86707501	missense	probably damaging	0.99
R5072:Cltc	UTSW	11	86717968	missense	possibly damaging	0.86
R5113:Cltc	UTSW	11	86722321	missense	probably damaging	0.98
R5126:Cltc	UTSW	11	86712669	missense	probably damaging	1.00
R5177:Cltc	UTSW	11	86705163	missense	probably damaging	1.00
R5609:Cltc	UTSW	11	86730267	missense	probably damaging	0.99
R5610:Cltc	UTSW	11	86721646	missense	probably benign	0.00
R5677:Cltc	UTSW	11	86705242	missense	probably damaging	1.00
R5999:Cltc	UTSW	11	86704129	missense	possibly damaging	0.93
R6197:Cltc	UTSW	11	86720362	missense	probably benign	0.01
R6198:Cltc	UTSW	11	86720362	missense	probably benign	0.01
R6264:Cltc	UTSW	11	86705258	missense	probably damaging	1.00
R6395:Cltc	UTSW	11	86725180	missense	probably damaging	0.97
R6818:Cltc	UTSW	11	86704228	missense	possibly damaging	0.86
R6894:Cltc	UTSW	11	86712602	nonsense	probably null
R7196:Cltc	UTSW	11	86706831	missense	probably damaging	1.00
R7438:Cltc	UTSW	11	86725228	missense	probably benign	0.01
R7621:Cltc	UTSW	11	86707486	missense	probably benign	0.03
R7637:Cltc	UTSW	11	86730332	missense	probably damaging	1.00
R7729:Cltc	UTSW	11	86721648	missense	probably benign
R7817:Cltc	UTSW	11	86725123	missense	probably damaging	1.00
R7944:Cltc	UTSW	11	86737141	missense	probably benign	0.01
R7945:Cltc	UTSW	11	86737141	missense	probably benign	0.01
R8040:Cltc	UTSW	11	86725205	missense	probably damaging	1.00
R8105:Cltc	UTSW	11	86707612	missense	probably damaging	0.98
R8203:Cltc	UTSW	11	86704160	missense	possibly damaging	0.79
R8297:Cltc	UTSW	11	86712631	missense	probably damaging	1.00
R8304:Cltc	UTSW	11	86725261	missense	probably benign	0.01
R8419:Cltc	UTSW	11	86707566	missense	probably benign	0.01
R8673:Cltc	UTSW	11	86757375	start gained	probably benign
Z1176:Cltc	UTSW	11	86702632	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GCCACCTGAACACAGATCTG -3'
(R):5'- AAGGAAACACGGCCTTGTC -3'

Sequencing Primer
(F):5'- CTGAGGCATTCTAGGGAATCTTCAAC -3'
(R):5'- GAAACACGGCCTTGTCCTGTC -3'

Posted On

2019-11-26