Mutagenetix > Incidental Mutation

Incidental Mutation 'R9665:Lsp1'

727767

Institutional Source

Beutler Lab

Gene Symbol

Lsp1

Ensembl Gene

ENSMUSG00000018819

Gene Name

lymphocyte specific 1

Synonyms

WP34, leukocyte specific protein 1, pp52, leukocyte-specific protein 1, lymphocyte-specific protein 1, Lsp-1, p50

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9665 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142014583-142048605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 142044142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 296 (I296L)

Ref Sequence

ENSEMBL: ENSMUSP00000018963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018963] [ENSMUST00000038946] [ENSMUST00000105966] [ENSMUST00000105967] [ENSMUST00000105968] [ENSMUST00000140626] [ENSMUST00000149521]

AlphaFold

P19973

Predicted Effect

probably benign
Transcript: ENSMUST00000018963
AA Change: I296L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000018963
Gene: ENSMUSG00000018819
AA Change: I296L

Domain	Start	End	E-Value	Type
coiled coil region	29	53	N/A	INTRINSIC
Pfam:Caldesmon	173	303	2.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038946
AA Change: I294L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040637
Gene: ENSMUSG00000018819
AA Change: I294L

Domain	Start	End	E-Value	Type
coiled coil region	27	51	N/A	INTRINSIC
Pfam:Caldesmon	171	301	2.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105966
AA Change: I288L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101586
Gene: ENSMUSG00000018819
AA Change: I288L

Domain	Start	End	E-Value	Type
coiled coil region	27	51	N/A	INTRINSIC
Pfam:Caldesmon	166	294	6.4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105967
AA Change: I290L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101587
Gene: ENSMUSG00000018819
AA Change: I290L

Domain	Start	End	E-Value	Type
coiled coil region	29	53	N/A	INTRINSIC
Pfam:Caldesmon	168	296	6.7e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105968
AA Change: I296L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101588
Gene: ENSMUSG00000018819
AA Change: I296L

Domain	Start	End	E-Value	Type
coiled coil region	29	53	N/A	INTRINSIC
Pfam:Caldesmon	173	280	9.3e-29	PFAM
low complexity region	291	307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140626

Predicted Effect

probably benign
Transcript: ENSMUST00000149521
AA Change: I48L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased numbers of resident peritoneal macrophages and reduced numbers of peritoneal lymphocytes. Mutant neutrophils show abnormal morphology and impaired chemokine-induced migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,407,796 (GRCm39)	E79G	probably damaging	Het
4930583I09Rik	T	A	17: 65,141,288 (GRCm39)	Q78L	unknown	Het
9330159F19Rik	G	T	10: 29,103,344 (GRCm39)	V642F	probably benign	Het
Abca9	T	A	11: 110,006,280 (GRCm39)	Q1275L	probably benign	Het
Abca9	G	T	11: 110,006,281 (GRCm39)	Q1275K	probably benign	Het
Ager	C	T	17: 34,819,090 (GRCm39)	P313S	probably benign	Het
Ap4m1	T	A	5: 138,171,273 (GRCm39)	N98K	probably benign	Het
Arhgef12	T	G	9: 42,929,650 (GRCm39)	K215T	possibly damaging	Het
Arhgef4	T	C	1: 34,849,518 (GRCm39)	Y370H	probably benign	Het
Bcat1	T	G	6: 144,994,488 (GRCm39)	H3P	probably benign	Het
Btnl6	T	A	17: 34,732,635 (GRCm39)	Q313L	probably benign	Het
Cad	T	C	5: 31,229,703 (GRCm39)	S1458P	probably benign	Het
Cfap161	A	G	7: 83,442,579 (GRCm39)	V78A	probably benign	Het
Chd2	C	A	7: 73,079,555 (GRCm39)	A1782S	probably benign	Het
Cimip2b	T	A	4: 43,427,554 (GRCm39)	R257*	probably null	Het
Col4a3	A	T	1: 82,668,301 (GRCm39)	T1042S	unknown	Het
Cramp1	A	T	17: 25,196,545 (GRCm39)	N856K	probably damaging	Het
Crispld2	G	A	8: 120,760,316 (GRCm39)	R414H	probably benign	Het
Ctsb	T	A	14: 63,370,917 (GRCm39)		probably null	Het
Cyp2c69	T	C	19: 39,839,504 (GRCm39)	D373G	possibly damaging	Het
Dnah3	A	G	7: 119,644,981 (GRCm39)	V1100A	probably benign	Het
Dnajb6	A	T	5: 29,971,374 (GRCm39)	L225F	probably damaging	Het
Dscc1	A	T	15: 54,946,837 (GRCm39)	I296K	unknown	Het
Epb41l2	A	G	10: 25,317,798 (GRCm39)	D105G	probably benign	Het
Evpl	G	A	11: 116,123,497 (GRCm39)	R292C	probably damaging	Het
Flnc	T	C	6: 29,455,447 (GRCm39)	I2032T	probably damaging	Het
Fryl	T	A	5: 73,222,299 (GRCm39)	D2094V	probably damaging	Het
Gigyf2	A	G	1: 87,331,457 (GRCm39)	S202G	unknown	Het
Hdgfl1	A	T	13: 26,953,812 (GRCm39)	M87K	probably benign	Het
Htra3	T	A	5: 35,836,654 (GRCm39)	I13F	unknown	Het
Igf2r	T	C	17: 12,913,027 (GRCm39)	N1774D	probably benign	Het
Ighj1	A	T	12: 113,393,446 (GRCm39)	Y3N		Het
Incenp	T	C	19: 9,871,329 (GRCm39)	H100R	unknown	Het
Klrb1c	A	G	6: 128,760,625 (GRCm39)		probably null	Het
Lmbrd1	T	A	1: 24,732,065 (GRCm39)	V94D	probably damaging	Het
Lmna	A	T	3: 88,389,793 (GRCm39)	S611T	probably benign	Het
Mdga1	A	T	17: 30,051,991 (GRCm39)	I892N	probably damaging	Het
Micu3	A	G	8: 40,828,666 (GRCm39)	E351G	probably benign	Het
Mrpl35	A	G	6: 71,795,704 (GRCm39)	V61A	probably benign	Het
Nhsl1	A	G	10: 18,401,599 (GRCm39)	K908E	possibly damaging	Het
Nlk	A	G	11: 78,481,753 (GRCm39)	L236P		Het
Nwd1	T	A	8: 73,401,106 (GRCm39)	H735Q	probably damaging	Het
Or1e1b-ps1	A	T	11: 73,845,656 (GRCm39)	I47F	probably benign	Het
Or5d47	A	G	2: 87,804,596 (GRCm39)	S138P	possibly damaging	Het
Or5w17	A	T	2: 87,583,671 (GRCm39)	I222N	probably damaging	Het
Or7h8	T	A	9: 20,124,402 (GRCm39)	Y252*	probably null	Het
Otof	T	A	5: 30,584,895 (GRCm39)	S70C	probably benign	Het
Pcdh20	A	T	14: 88,707,162 (GRCm39)	V46D	probably benign	Het
Pjvk	A	G	2: 76,487,827 (GRCm39)	T240A	probably benign	Het
Pou2f1	A	G	1: 165,703,600 (GRCm39)	S697P	probably damaging	Het
Prkn	T	A	17: 11,286,062 (GRCm39)	D18E	possibly damaging	Het
Prmt9	G	A	8: 78,307,267 (GRCm39)	V739I	probably benign	Het
Prr14	A	G	7: 127,073,091 (GRCm39)	D146G	probably benign	Het
Rai14	T	G	15: 10,574,803 (GRCm39)	E747D	probably damaging	Het
Rapgef4	A	T	2: 72,036,018 (GRCm39)	T504S	probably benign	Het
Rilpl2	C	A	5: 124,616,240 (GRCm39)		probably benign	Het
Ror2	A	T	13: 53,439,561 (GRCm39)	M1K	probably null	Het
Shisa9	A	G	16: 12,085,446 (GRCm39)	T352A	probably benign	Het
Slc35a4	A	G	18: 36,813,651 (GRCm39)	N33S	probably benign	Het
Slx4	G	T	16: 3,806,890 (GRCm39)	L518I	probably benign	Het
Speer1i	A	G	5: 11,092,852 (GRCm39)	K132R		Het
Spon2	T	C	5: 33,374,702 (GRCm39)	T35A	probably benign	Het
Syne3	A	C	12: 104,924,247 (GRCm39)	L471R	probably benign	Het
Tas2r115	A	G	6: 132,714,390 (GRCm39)	L187S	probably benign	Het
Tbc1d30	G	T	10: 121,102,886 (GRCm39)	S715R	possibly damaging	Het
Tdrd1	A	G	19: 56,819,572 (GRCm39)	E24G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tjp1	A	G	7: 64,962,644 (GRCm39)	S1178P	probably benign	Het
Upf2	A	G	2: 6,051,715 (GRCm39)	S1126G	unknown	Het
Vmn1r128	G	T	7: 21,083,362 (GRCm39)	C22F	probably damaging	Het
Vmn2r95	G	T	17: 18,660,607 (GRCm39)	V340F	probably damaging	Het
Vps13c	A	T	9: 67,863,025 (GRCm39)	K3014*	probably null	Het
Wdr75	T	C	1: 45,843,013 (GRCm39)	V126A	unknown	Het
Yeats4	A	T	10: 117,053,343 (GRCm39)	Y139*	probably null	Het
Zc3h13	A	G	14: 75,567,989 (GRCm39)	D1094G	probably damaging	Het
Zfp143	C	G	7: 109,692,414 (GRCm39)	I608M	probably damaging	Het
Zfp772	A	T	7: 7,212,793 (GRCm39)	M1K	probably null	Het
Zfp827	A	G	8: 79,906,756 (GRCm39)	M923V	possibly damaging	Het

Other mutations in Lsp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02351:Lsp1	APN	7	142,042,679 (GRCm39)	critical splice donor site	probably null
IGL02358:Lsp1	APN	7	142,042,679 (GRCm39)	critical splice donor site	probably null
IGL02624:Lsp1	APN	7	142,044,288 (GRCm39)	splice site	probably benign
R0594:Lsp1	UTSW	7	142,042,687 (GRCm39)	splice site	probably benign
R0603:Lsp1	UTSW	7	142,043,115 (GRCm39)	missense	probably damaging	1.00
R2055:Lsp1	UTSW	7	142,043,144 (GRCm39)	critical splice donor site	probably null
R2090:Lsp1	UTSW	7	142,045,544 (GRCm39)	intron	probably benign
R3911:Lsp1	UTSW	7	142,040,098 (GRCm39)	missense	probably damaging	0.98
R5965:Lsp1	UTSW	7	142,044,161 (GRCm39)	critical splice donor site	probably null
R7186:Lsp1	UTSW	7	142,044,089 (GRCm39)	missense	probably damaging	1.00
R7216:Lsp1	UTSW	7	142,042,179 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTCCTGAATGCAGTATGAC -3'
(R):5'- CAGTGGCCACGAACTTGTAC -3'

Sequencing Primer
(F):5'- GTCCTGAATGCAGTATGACTCTCC -3'
(R):5'- GAACTTGTACCGCTTTCCAGATGG -3'

Posted On

2022-10-06