Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Clta'

345416

Institutional Source

Beutler Lab

Gene Symbol

Clta

Ensembl Gene

ENSMUSG00000028478

Gene Name

clathrin, light polypeptide (Lca)

Synonyms

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.439) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44004452-44032846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44012819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 10 (P10S)

Ref Sequence

ENSEMBL: ENSMUSP00000103483 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107845
AA Change: P10S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103477
Gene: ENSMUSG00000028478
AA Change: P10S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107846
AA Change: P10S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103478
Gene: ENSMUSG00000028478
AA Change: P10S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107847
AA Change: P10S

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

SMART Domains

Protein: ENSMUSP00000103479
Gene: ENSMUSG00000028478
AA Change: P10S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107849
AA Change: P10S

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

SMART Domains

Protein: ENSMUSP00000103481
Gene: ENSMUSG00000028478
AA Change: P10S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107851
AA Change: P10S

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

SMART Domains

Protein: ENSMUSP00000103483
Gene: ENSMUSG00000028478
AA Change: P10S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170241
AA Change: P10S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127344
Gene: ENSMUSG00000028478
AA Change: P10S

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	Het

Other mutations in Clta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02078:Clta	APN	4	44030232	missense	probably damaging	1.00
IGL02414:Clta	APN	4	44030274	intron	probably benign
IGL03184:Clta	APN	4	44025514	missense	probably benign	0.12
R0129:Clta	UTSW	4	44032424	missense	probably benign	0.02
R2248:Clta	UTSW	4	44012852	missense	probably damaging	1.00
R4489:Clta	UTSW	4	44032417	missense	probably damaging	0.99
R7432:Clta	UTSW	4	44032419	missense	possibly damaging	0.79
R7649:Clta	UTSW	4	44025494	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- ATATAGAAGCAGGGTTTCCGC -3'
(R):5'- AAGTTCCGCGTAAGAGCAC -3'

Sequencing Primer
(F):5'- GCAGGGTTTCCGCTTCCAC -3'
(R):5'- AGTGTGCCCACAAGTCCTC -3'

Posted On

2015-09-25