Mutagenetix > Incidental Mutations

Incidental Mutation 'R7637:Cltc'

590022

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: 0.960) question?

Stock #

R7637 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86694351-86757565 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86730332 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 287 (H287R)

Ref Sequence

ENSEMBL: ENSMUSP00000050220 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000060766
AA Change: H287R

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

SMART Domains

Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: H287R

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: H283R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: H283R

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

noncoding transcript
Transcript: ENSMUST00000133501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141152

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,218,952	Q651L	probably benign	Het
Adam8	C	T	7: 139,985,430	V624I	probably damaging	Het
Ccdc144b	T	A	3: 36,046,876	Q49L	probably damaging	Het
Cmya5	T	C	13: 93,083,212	K3243R	possibly damaging	Het
Dock5	G	A	14: 67,786,340	T1124M	possibly damaging	Het
Fam8a1	A	T	13: 46,671,247	M237L	probably benign	Het
Fars2	G	T	13: 36,204,775	K82N	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm5767	C	T	16: 8,683,646	P59L	unknown	Het
Gnat3	A	G	5: 18,003,772	D158G		Het
Grhl2	A	C	15: 37,328,330	N400T	probably damaging	Het
Grin2c	A	T	11: 115,256,259		probably null	Het
Hipk4	A	G	7: 27,523,548	Y11C	probably damaging	Het
Hspa9	G	T	18: 34,938,687	A620E	not run	Het
Igkv12-89	A	G	6: 68,835,099	S29P	probably benign	Het
Itga8	A	T	2: 12,109,187	D1039E	probably damaging	Het
Itgae	A	T	11: 73,113,631	D248V	probably damaging	Het
Kmt2c	T	C	5: 25,315,095	K2006E	probably damaging	Het
Mdga1	C	T	17: 29,832,379	G934R	probably benign	Het
Mov10	T	C	3: 104,795,885	N896S	probably benign	Het
Ndufb6	A	T	4: 40,273,080		probably null	Het
Nlk	T	C	11: 78,591,005		probably null	Het
Notch2	T	A	3: 98,146,623	S2201T	probably damaging	Het
Olfr152	A	T	2: 87,783,434	D298V	probably damaging	Het
Pank1	A	C	19: 34,821,988		probably null	Het
Pdlim3	T	C	8: 45,909,065	F126S	probably damaging	Het
Pds5a	C	A	5: 65,638,604	G648C	probably benign	Het
Plekhh3	T	C	11: 101,164,327	I567V	unknown	Het
Ppfia2	T	C	10: 106,865,403		probably null	Het
Prl3d1	A	G	13: 27,100,069	D207G	probably damaging	Het
Prss23	T	A	7: 89,510,246	D205V	probably benign	Het
Pygl	C	T	12: 70,197,795		probably null	Het
Qsox2	A	G	2: 26,221,020	F111S	probably damaging	Het
Sart3	T	C	5: 113,771,352	N95S	probably benign	Het
Scpep1	A	G	11: 88,929,220	F414S	probably damaging	Het
Selenbp1	C	A	3: 94,937,348	Y105*	probably null	Het
Sirpa	A	G	2: 129,616,445	D327G	probably benign	Het
Sowahc	G	A	10: 59,222,183	R47H	probably damaging	Het
Szt2	T	C	4: 118,393,828	Y361C	probably damaging	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tie1	T	C	4: 118,472,978	I1042M	probably damaging	Het
Tmem132e	T	A	11: 82,434,516	L114Q	probably damaging	Het
Tmx3	A	G	18: 90,537,109	T317A	probably damaging	Het
Tppp3	A	G	8: 105,468,292	V69A	probably benign	Het
Tpr	T	C	1: 150,423,516	Y1156H	probably damaging	Het
Trank1	A	C	9: 111,365,296	D796A	possibly damaging	Het
Tsc2	G	A	17: 24,607,492	P928S	probably benign	Het
Unc80	G	T	1: 66,672,684	V2722F	possibly damaging	Het
Vmn1r199	G	T	13: 22,382,675	L46F	probably benign	Het
Vps13a	A	T	19: 16,750,149	H196Q	probably benign	Het
Wnt10a	T	A	1: 74,793,474	C75*	probably null	Het
Zfp335	A	G	2: 164,892,539		probably null	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
R7729:Cltc	UTSW	11	86721648	missense	probably benign
R7769:Cltc	UTSW	11	86719493	missense	probably damaging	1.00
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'- CTTTGCCATCTACCATTAAGAACTC -3'
(R):5'- GCTTGAGCTATCCTGCATTTAG -3'

Sequencing Primer
(F):5'- GCCATCTACCATTAAGAACTCTTTTC -3'
(R):5'- GAGCTATCCTGCATTTAGACAAGC -3'

Posted On

2019-10-24