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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7769 (G1)

Quality Score

225.009

Status

Not 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

Coding Region Coverage

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

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: 70 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
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
Hspb7	T	C	4: 141,424,024	V159A	possibly damaging	Het
Ibsp	A	G	5: 104,306,005	N70D	probably benign	Het
Ibsp	A	G	5: 104,310,184	N196D	probably damaging	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
Ppp2r3d	T	C	9: 124,439,087	H110R		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
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	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
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
R8040:Cltc	UTSW	11	86725205	missense	probably damaging	1.00
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