Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02185:Lcp1'

283603

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lcp1

Ensembl Gene

ENSMUSG00000021998

Gene Name

lymphocyte cytosolic protein 1

Synonyms

D14Ertd310e, L-fimbrin, Pls2, L-plastin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02185

Quality Score

Status

Chromosome

Chromosomal Location

75131101-75230842 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75229300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 616 (F616L)

Ref Sequence

ENSEMBL: ENSMUSP00000116271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124499] [ENSMUST00000131802] [ENSMUST00000145303]

AlphaFold

Q61233

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124499
AA Change: F616L

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: F616L

Domain	Start	End	E-Value	Type
EFh	13	41	6.91e-5	SMART
EFh	53	81	7.7e-3	SMART
CH	122	234	1.15e-24	SMART
CH	266	373	1.51e-19	SMART
CH	396	501	1.87e-24	SMART
CH	517	622	8.55e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131802
AA Change: F616L

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: F616L

Domain	Start	End	E-Value	Type
EFh	13	41	6.91e-5	SMART
EFh	53	81	7.7e-3	SMART
CH	122	234	1.15e-24	SMART
CH	266	373	1.51e-19	SMART
CH	396	501	1.87e-24	SMART
CH	517	622	8.55e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145303
AA Change: F616L

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: F616L

Domain	Start	End	E-Value	Type
EFh	13	41	6.91e-5	SMART
EFh	53	81	7.7e-3	SMART
CH	122	234	1.15e-24	SMART
CH	266	373	1.51e-19	SMART
CH	396	501	1.87e-24	SMART
CH	517	622	8.55e-19	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to S. aureus infection, defective neutrophil killing of S. aureus, and impaired adhesion-dependent respiratory bursts in neutrophils. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	T	4: 35,197,046	W340R	probably damaging	Het
Adh5	A	G	3: 138,451,054	D167G	probably benign	Het
Cand2	G	A	6: 115,789,510	A359T	probably benign	Het
Cnnm2	T	C	19: 46,762,995	V408A	probably benign	Het
Eloa	A	G	4: 136,012,979		probably benign	Het
Ern2	T	C	7: 122,173,375		probably benign	Het
Hs6st3	A	G	14: 119,868,884		probably null	Het
Hydin	A	T	8: 110,506,476	I1736F	possibly damaging	Het
Ifrd2	A	T	9: 107,591,091	I253F	probably benign	Het
Kctd7	G	A	5: 130,152,458	V241I	possibly damaging	Het
Lyst	C	T	13: 13,661,093	Q1787*	probably null	Het
Mapkbp1	A	T	2: 120,014,663	T342S	possibly damaging	Het
Mcph1	A	G	8: 18,668,990		probably benign	Het
Mctp2	T	C	7: 72,080,823	H868R	probably benign	Het
Mefv	T	C	16: 3,715,850	T186A	probably benign	Het
Nol9	T	A	4: 152,057,911	I666N	probably damaging	Het
Olfr145	A	C	9: 37,898,235	Y277S	probably damaging	Het
Olfr574	T	A	7: 102,948,514	N16K	probably damaging	Het
Olfr775	G	T	10: 129,251,035	C167F	possibly damaging	Het
Pum2	T	C	12: 8,748,955		probably null	Het
Rpgrip1	A	C	14: 52,112,228	K24N	possibly damaging	Het
Ryr3	T	A	2: 112,967,203	T122S	probably damaging	Het
Sfn	A	G	4: 133,601,325	S149P	probably benign	Het
Slc27a2	T	A	2: 126,567,816	V306D	probably damaging	Het
Slc35a1	A	G	4: 34,675,584	V81A	probably benign	Het
Trav21-dv12	A	T	14: 53,876,498	D25V	probably benign	Het
Ttn	T	C	2: 76,768,534	H11018R	possibly damaging	Het
Txn1	A	T	4: 57,950,883	Y49N	probably benign	Het
Ulk2	C	T	11: 61,782,060	A903T	probably damaging	Het
Vmn2r77	G	A	7: 86,795,152	M4I	unknown	Het
Vmn2r85	G	T	10: 130,418,692	L708I	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vrk2	T	A	11: 26,535,638	R117*	probably null	Het
Xpo6	A	T	7: 126,113,808		probably benign	Het
Zdhhc14	C	A	17: 5,752,882	T420K	probably benign	Het
Zfp334	G	T	2: 165,386,949		probably benign	Het
Zfp958	T	A	8: 4,628,990	C338*	probably null	Het

Other mutations in Lcp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Lcp1	APN	14	75227093	critical splice donor site	probably null
IGL01768:Lcp1	APN	14	75224133	missense	probably benign	0.40
IGL01801:Lcp1	APN	14	75199375	missense	probably benign	0.10
IGL01940:Lcp1	APN	14	75216365	missense	probably benign	0.17
IGL02135:Lcp1	APN	14	75200486	missense	probably benign	0.00
IGL02478:Lcp1	APN	14	75224096	missense	probably benign	0.04
IGL02604:Lcp1	APN	14	75224126	missense	probably benign	0.11
R0244:Lcp1	UTSW	14	75227001	missense	possibly damaging	0.92
R0295:Lcp1	UTSW	14	75199420	missense	probably null	0.59
R0313:Lcp1	UTSW	14	75199433	missense	probably damaging	1.00
R0415:Lcp1	UTSW	14	75227006	missense	possibly damaging	0.88
R0751:Lcp1	UTSW	14	75199387	missense	probably benign	0.00
R0811:Lcp1	UTSW	14	75214488	missense	probably benign	0.00
R0812:Lcp1	UTSW	14	75214488	missense	probably benign	0.00
R1200:Lcp1	UTSW	14	75229302	missense	possibly damaging	0.73
R1713:Lcp1	UTSW	14	75199444	critical splice donor site	probably null
R1915:Lcp1	UTSW	14	75199297	missense	possibly damaging	0.81
R1969:Lcp1	UTSW	14	75200506	missense	probably damaging	1.00
R1970:Lcp1	UTSW	14	75200506	missense	probably damaging	1.00
R1971:Lcp1	UTSW	14	75200506	missense	probably damaging	1.00
R2045:Lcp1	UTSW	14	75200401	missense	probably benign	0.01
R2064:Lcp1	UTSW	14	75198075	critical splice acceptor site	probably null
R3949:Lcp1	UTSW	14	75206129	missense	possibly damaging	0.68
R4062:Lcp1	UTSW	14	75215180	missense	probably damaging	1.00
R4521:Lcp1	UTSW	14	75215168	missense	possibly damaging	0.94
R4811:Lcp1	UTSW	14	75200408	missense	probably damaging	0.99
R4854:Lcp1	UTSW	14	75200489	missense	probably damaging	1.00
R4974:Lcp1	UTSW	14	75208471	nonsense	probably null
R5539:Lcp1	UTSW	14	75229298	missense	probably benign	0.08
R5561:Lcp1	UTSW	14	75212508	missense	probably benign	0.01
R5724:Lcp1	UTSW	14	75226982	missense	probably benign	0.18
R5989:Lcp1	UTSW	14	75199387	missense	probably benign	0.00
R6731:Lcp1	UTSW	14	75206189	missense	probably damaging	1.00
R7346:Lcp1	UTSW	14	75210506	missense	possibly damaging	0.49
R7670:Lcp1	UTSW	14	75200431	missense	probably benign	0.12
R7698:Lcp1	UTSW	14	75206211	nonsense	probably null
R9780:Lcp1	UTSW	14	75202738	missense	probably damaging	1.00
S24628:Lcp1	UTSW	14	75227006	missense	possibly damaging	0.88
X0027:Lcp1	UTSW	14	75227086	missense	probably damaging	1.00

Posted On

2015-04-16