Mutagenetix > Incidental Mutation

Incidental Mutation 'R4489:Clta'

330624

Institutional Source

Beutler Lab

Gene Symbol

Clta

Ensembl Gene

ENSMUSG00000028478

Gene Name

clathrin light chain A

Synonyms

MMRRC Submission

041745-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

R4489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44004452-44032846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44032417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 198 (F198V)

Ref Sequence

ENSEMBL: ENSMUSP00000103483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000107845] [ENSMUST00000107846] [ENSMUST00000107847] [ENSMUST00000107849] [ENSMUST00000107851] [ENSMUST00000170241] [ENSMUST00000173234] [ENSMUST00000172533]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030201

SMART Domains

Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	63	406	2.3e-69	PFAM
Pfam:ROK	440	747	1.4e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102936

SMART Domains

Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	32	375	5.1e-75	PFAM
Pfam:ROK	411	596	6.5e-44	PFAM
low complexity region	685	707	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107845
AA Change: F166V

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103477
Gene: ENSMUSG00000028478
AA Change: F166V

Domain	Start	End	E-Value	Type
Pfam:Clathrin_lg_ch	3	215	1.4e-74	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107846
AA Change: F168V

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103478
Gene: ENSMUSG00000028478
AA Change: F168V

Domain	Start	End	E-Value	Type
Pfam:Clathrin_lg_ch	3	217	1.1e-73	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107847
AA Change: F180V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103479
Gene: ENSMUSG00000028478
AA Change: F180V

Domain	Start	End	E-Value	Type
Pfam:Clathrin_lg_ch	3	229	2e-70	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107849
AA Change: F186V

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103481
Gene: ENSMUSG00000028478
AA Change: F186V

Domain	Start	End	E-Value	Type
Pfam:Clathrin_lg_ch	3	235	3.5e-71	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107851
AA Change: F198V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103483
Gene: ENSMUSG00000028478
AA Change: F198V

Domain	Start	End	E-Value	Type
Pfam:Clathrin_lg_ch	15	247	4.1e-57	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170241
AA Change: F168V

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127344
Gene: ENSMUSG00000028478
AA Change: F168V

Domain	Start	End	E-Value	Type
Pfam:Clathrin_lg_ch	3	217	1.1e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174522

Predicted Effect

probably benign
Transcript: ENSMUST00000173234

SMART Domains

Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	32	375	3.9e-75	PFAM
Pfam:ROK	453	522	1.6e-16	PFAM
low complexity region	611	633	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172533

SMART Domains

Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	32	375	1.6e-75	PFAM
PDB:3EO3\|C	406	471	2e-33	PDB
SCOP:d1bu6o1	410	462	1e-3	SMART

Meta Mutation Damage Score

0.6305

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

94% (50/53)

MGI Phenotype

FUNCTION: Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,062,486 (GRCm39)	V484A	probably damaging	Het
Ank3	C	T	10: 69,734,086 (GRCm39)	A754V	probably damaging	Het
Ano1	T	C	7: 144,165,479 (GRCm39)	N582S	probably benign	Het
Arnt2	T	A	7: 83,924,553 (GRCm39)	T425S	probably benign	Het
Bltp1	A	T	3: 37,058,082 (GRCm39)	Q3224L	probably null	Het
Cand2	A	G	6: 115,766,427 (GRCm39)	D344G	probably damaging	Het
Cnga2	T	A	X: 71,049,733 (GRCm39)	F133I	possibly damaging	Het
Csmd2	G	A	4: 128,275,738 (GRCm39)	V826M	possibly damaging	Het
Dnah11	C	T	12: 117,880,631 (GRCm39)	V3830I	probably benign	Het
Fhl4	T	C	10: 84,934,319 (GRCm39)	D154G	possibly damaging	Het
Gbp4	T	A	5: 105,269,773 (GRCm39)	T352S	probably damaging	Het
Gigyf2	A	G	1: 87,368,548 (GRCm39)	D1076G	probably damaging	Het
Gm21370	T	A	13: 120,488,378 (GRCm39)	Y57F	probably benign	Het
Gm6489	A	G	1: 31,326,320 (GRCm39)		noncoding transcript	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hectd4	T	G	5: 121,424,320 (GRCm39)	I660R	possibly damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Htr1b	A	T	9: 81,513,592 (GRCm39)	D338E	probably benign	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,551,501 (GRCm39)		probably benign	Het
Lzts1	T	A	8: 69,588,347 (GRCm39)	K536N	possibly damaging	Het
Mrpl22	T	A	11: 58,063,928 (GRCm39)	N49K	probably benign	Het
Mzt1	T	C	14: 99,273,926 (GRCm39)	*42W	probably null	Het
Nkx3-2	T	G	5: 41,919,304 (GRCm39)	Q228P	probably damaging	Het
Nufip2	T	G	11: 77,577,055 (GRCm39)	M1R	probably null	Het
Obscn	G	A	11: 58,922,417 (GRCm39)	T5921M	possibly damaging	Het
Or4c116	T	C	2: 88,941,916 (GRCm39)		probably null	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Pcdha11	C	A	18: 37,139,969 (GRCm39)	Q533K	possibly damaging	Het
Pgm5	T	C	19: 24,793,809 (GRCm39)	E285G	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Potefam1	A	G	2: 111,051,047 (GRCm39)	Y250H	probably benign	Het
Rgs21	T	C	1: 144,395,613 (GRCm39)	T92A	possibly damaging	Het
Rgsl1	T	A	1: 153,703,282 (GRCm39)	Y123F	probably benign	Het
Rnf13	A	C	3: 57,728,010 (GRCm39)	K230T	probably damaging	Het
Sgf29	T	C	7: 126,263,110 (GRCm39)	S29P	possibly damaging	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Specc1	T	G	11: 62,042,653 (GRCm39)		probably null	Het
Tg	A	T	15: 66,579,791 (GRCm39)	Q1532L	probably damaging	Het
Timm44	A	C	8: 4,316,654 (GRCm39)	S297A	possibly damaging	Het
Txndc9	G	T	1: 38,034,871 (GRCm39)	S11*	probably null	Het
Uggt1	C	T	1: 36,185,749 (GRCm39)	W1478*	probably null	Het
Washc3	T	C	10: 88,051,893 (GRCm39)	V87A	probably benign	Het
Xlr5b	T	C	X: 72,201,504 (GRCm39)		probably null	Het

Other mutations in Clta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02078:Clta	APN	4	44,030,232 (GRCm39)	missense	probably damaging	1.00
IGL02414:Clta	APN	4	44,030,274 (GRCm39)	intron	probably benign
IGL03184:Clta	APN	4	44,025,514 (GRCm39)	missense	probably benign	0.12
R0129:Clta	UTSW	4	44,032,424 (GRCm39)	missense	probably benign	0.02
R2248:Clta	UTSW	4	44,012,852 (GRCm39)	missense	probably damaging	1.00
R4599:Clta	UTSW	4	44,012,819 (GRCm39)	missense	probably damaging	1.00
R7432:Clta	UTSW	4	44,032,419 (GRCm39)	missense	possibly damaging	0.79
R7649:Clta	UTSW	4	44,025,494 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TGTATCTAGGAGAGCTGGGC -3'
(R):5'- CGTAGTGTTTCCACAGGGTG -3'

Sequencing Primer
(F):5'- TGAGCTAGGGGCCAATACTCTC -3'
(R):5'- TGGCTCTTCAGTGCACCAG -3'

Posted On

2015-07-21