Mutagenetix > Incidental Mutation

Incidental Mutation 'R9578:Cltc'

722427

Institutional Source

Beutler Lab

Gene Symbol

Cltc

Ensembl Gene

ENSMUSG00000047126

Gene Name

clathrin heavy chain

Synonyms

CHC

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R9578 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86585177-86648391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86593237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 1542 (S1542F)

Ref Sequence

ENSEMBL: ENSMUSP00000099475 (fasta)

Gene Model

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

AlphaFold

Q68FD5

Predicted Effect

probably benign
Transcript: ENSMUST00000060766
AA Change: S1546F

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000050220
Gene: ENSMUSG00000047126
AA Change: S1546F

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 benign
Transcript: ENSMUST00000103186
AA Change: S1542F

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099475
Gene: ENSMUSG00000047126
AA Change: S1542F

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

SMART Domains

Protein: ENSMUSP00000117674
Gene: ENSMUSG00000047126
AA Change: S75F

Domain	Start	End	E-Value	Type
Pfam:Clathrin	1	99	4.4e-23	PFAM
low complexity region	203	214	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	G	A	8: 106,436,505 (GRCm39)	G234S	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Aldh8a1	A	G	10: 21,253,281 (GRCm39)	I14M	probably damaging	Het
Arhgap11a	A	G	2: 113,670,125 (GRCm39)	S333P	possibly damaging	Het
Atp1b3	A	T	9: 96,220,754 (GRCm39)	D180E	probably benign	Het
B3gnt8	T	C	7: 25,328,089 (GRCm39)	L173P	probably damaging	Het
Cabin1	A	G	10: 75,590,185 (GRCm39)	F37S	probably damaging	Het
Carmil3	G	T	14: 55,741,293 (GRCm39)		probably null	Het
Cfi	G	T	3: 129,659,024 (GRCm39)	M327I	probably benign	Het
Col7a1	G	A	9: 108,789,350 (GRCm39)	G854D	unknown	Het
Cux1	A	T	5: 136,282,919 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,602,234 (GRCm39)	N23K	probably damaging	Het
Dclre1a	A	G	19: 56,528,734 (GRCm39)	I807T	probably damaging	Het
Dnah14	T	C	1: 181,502,007 (GRCm39)	F1770L	probably benign	Het
Dnajc13	A	G	9: 104,115,726 (GRCm39)	F28L	probably benign	Het
Dtna	A	G	18: 23,728,612 (GRCm39)	D269G	probably damaging	Het
Dusp4	G	T	8: 35,274,822 (GRCm39)		probably benign	Het
Ece1	T	C	4: 137,641,133 (GRCm39)	S19P	probably benign	Het
Gas1	T	C	13: 60,323,905 (GRCm39)	D243G	possibly damaging	Het
Ggnbp2	A	G	11: 84,744,989 (GRCm39)	C178R	probably benign	Het
Gm12185	T	A	11: 48,806,408 (GRCm39)	N261I	probably benign	Het
Grm4	A	T	17: 27,669,183 (GRCm39)	F362I	possibly damaging	Het
Icos	T	A	1: 61,032,871 (GRCm39)	N23K	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Krt5	T	C	15: 101,620,153 (GRCm39)	K188R	probably damaging	Het
Mindy3	C	T	2: 12,361,715 (GRCm39)		probably null	Het
Ncdn	C	T	4: 126,645,795 (GRCm39)	R38H	probably damaging	Het
Nol9	A	G	4: 152,125,706 (GRCm39)	K219R	probably benign	Het
Opalin	A	T	19: 41,060,668 (GRCm39)	S2R	probably damaging	Het
Or8g35	A	T	9: 39,381,201 (GRCm39)	S274T	probably damaging	Het
Pask	G	A	1: 93,263,390 (GRCm39)	S122L	probably benign	Het
Pcdha11	T	C	18: 37,140,176 (GRCm39)	S602P	probably damaging	Het
Pclo	A	G	5: 14,816,753 (GRCm39)	K1271R		Het
Piezo1	T	C	8: 123,224,214 (GRCm39)	H763R		Het
Pigr	A	G	1: 130,777,350 (GRCm39)	K719E	probably benign	Het
Piwil4	A	T	9: 14,638,790 (GRCm39)	V245E	probably damaging	Het
Plcb4	A	G	2: 135,829,444 (GRCm39)	M925V	probably benign	Het
Pomt1	G	A	2: 32,133,543 (GRCm39)		probably null	Het
Pou2f2	C	A	7: 24,796,569 (GRCm39)	A302S	probably benign	Het
Rapgef4	A	T	2: 72,026,052 (GRCm39)	H359L	probably damaging	Het
Rfesd	C	T	13: 76,156,299 (GRCm39)	V36I	possibly damaging	Het
Rims1	G	A	1: 22,523,823 (GRCm39)	T421M	probably damaging	Het
Serpinf2	T	A	11: 75,327,615 (GRCm39)	H150L	probably benign	Het
Syt10	A	T	15: 89,675,122 (GRCm39)	M408K	possibly damaging	Het
Tcea1	T	A	1: 4,961,021 (GRCm39)		probably null	Het
Tia1	T	C	6: 86,407,347 (GRCm39)	*387R	probably null	Het
Top3a	A	C	11: 60,647,517 (GRCm39)	V186G	probably damaging	Het
Upk3b	T	A	5: 136,067,736 (GRCm39)	S27R	unknown	Het
Usp18	A	G	6: 121,239,726 (GRCm39)	S274G	probably benign	Het
Vmn1r230	C	A	17: 21,067,163 (GRCm39)	C117*	probably null	Het
Vmn1r72	T	C	7: 11,404,347 (GRCm39)	I34V	probably benign	Het
Vmn2r74	T	C	7: 85,606,101 (GRCm39)	D415G	probably benign	Het
Zfp54	A	G	17: 21,655,186 (GRCm39)	Y560C	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
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
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
Z1176:Cltc	UTSW	11	86,593,458 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TCATGACCTGGATGAAATAGGGC -3'
(R):5'- TGTGCAAGAAAGACAGCCTTTAC -3'

Sequencing Primer
(F):5'- TAGGGCATGGCGAAATCC -3'
(R):5'- CCTTTACAAGGTTGGTAAGCG -3'

Posted On

2022-08-09