Mutagenetix > Incidental Mutation

Incidental Mutation 'R3908:Lasp1'

310297

Institutional Source

Beutler Lab

Gene Symbol

Lasp1

Ensembl Gene

ENSMUSG00000038366

Gene Name

LIM and SH3 protein 1

Synonyms

SH3P6, Def-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R3908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97689826-97729590 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97690653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 12 (V12M)

Ref Sequence

ENSEMBL: ENSMUSP00000116102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043843] [ENSMUST00000127033] [ENSMUST00000129558] [ENSMUST00000129828] [ENSMUST00000134428] [ENSMUST00000136723] [ENSMUST00000143571] [ENSMUST00000146572] [ENSMUST00000152962]

AlphaFold

Q61792

Predicted Effect

probably damaging
Transcript: ENSMUST00000043843
AA Change: V12M

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

SMART Domains

Protein: ENSMUSP00000042123
Gene: ENSMUSG00000038366
AA Change: V12M

Domain	Start	End	E-Value	Type
LIM	4	56	4.34e-15	SMART
NEBU	62	92	1.1e-8	SMART
NEBU	98	128	1.05e-9	SMART
low complexity region	174	180	N/A	INTRINSIC
SH3	207	263	8.11e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107569

Predicted Effect

probably benign
Transcript: ENSMUST00000127033

SMART Domains

Protein: ENSMUSP00000127792
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	2e-7	BLAST
Pfam:Nebulin	31	59	1.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129558

SMART Domains

Protein: ENSMUSP00000123165
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	4e-7	BLAST
NEBU	26	56	1.1e-8	SMART
NEBU	62	92	1.05e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129828

SMART Domains

Protein: ENSMUSP00000115308
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	4e-7	BLAST
NEBU	26	56	1.1e-8	SMART
NEBU	62	92	1.05e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134428

Predicted Effect

probably benign
Transcript: ENSMUST00000136723

SMART Domains

Protein: ENSMUSP00000114306
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	2e-7	BLAST
Pfam:Nebulin	31	59	1.2e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143571
AA Change: V12M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146572

SMART Domains

Protein: ENSMUSP00000121907
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	3e-7	BLAST
Pfam:Nebulin	31	59	2.1e-12	PFAM
Pfam:Nebulin	67	89	1.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152962

SMART Domains

Protein: ENSMUSP00000120645
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	4e-7	BLAST
NEBU	26	56	1.1e-8	SMART
NEBU	62	92	1.05e-9	SMART

Meta Mutation Damage Score

0.8629

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background. Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,067,151 (GRCm39)	V1352A	possibly damaging	Het
Abcb7	G	T	X: 103,327,765 (GRCm39)	Q715K	probably benign	Het
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Cacng1	C	A	11: 107,607,118 (GRCm39)	V34L	probably benign	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Esp34	A	G	17: 38,870,532 (GRCm39)	D74G	possibly damaging	Het
Fanci	T	C	7: 79,083,257 (GRCm39)	V748A	possibly damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Il22	C	T	10: 118,041,529 (GRCm39)	R81*	probably null	Het
Jak2	T	A	19: 29,268,673 (GRCm39)	L583Q	probably damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Kif11	A	G	19: 37,379,169 (GRCm39)	I287V	probably damaging	Het
Matr3	C	T	18: 35,705,894 (GRCm39)	P273L	probably damaging	Het
Mpp4	T	A	1: 59,188,196 (GRCm39)	H183L	probably damaging	Het
Myh10	T	C	11: 68,661,885 (GRCm39)		probably null	Het
Or52h7	T	C	7: 104,213,848 (GRCm39)	I140T	probably benign	Het
Ppp1r12b	A	G	1: 134,770,470 (GRCm39)	S617P	probably damaging	Het
Psmb1	T	C	17: 15,710,543 (GRCm39)	Y2C	probably damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Serpinb9f	A	G	13: 33,511,919 (GRCm39)	T141A	probably damaging	Het
Slc38a4	T	C	15: 96,910,875 (GRCm39)		probably null	Het
Vmn2r9	C	A	5: 108,995,785 (GRCm39)	A288S	probably benign	Het
Zbtb12	A	T	17: 35,115,244 (GRCm39)		probably null	Het

Other mutations in Lasp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Lasp1	APN	11	97,727,016 (GRCm39)	missense	probably damaging	1.00
R0281:Lasp1	UTSW	11	97,697,677 (GRCm39)	nonsense	probably null
R2126:Lasp1	UTSW	11	97,726,960 (GRCm39)	missense	probably benign	0.34
R3906:Lasp1	UTSW	11	97,690,653 (GRCm39)	missense	probably damaging	1.00
R3909:Lasp1	UTSW	11	97,690,653 (GRCm39)	missense	probably damaging	1.00
R4908:Lasp1	UTSW	11	97,724,530 (GRCm39)	critical splice donor site	probably null
R5239:Lasp1	UTSW	11	97,690,686 (GRCm39)	missense	probably damaging	1.00
R6519:Lasp1	UTSW	11	97,706,383 (GRCm39)	splice site	probably null
R6576:Lasp1	UTSW	11	97,724,402 (GRCm39)	missense	probably damaging	1.00
R6629:Lasp1	UTSW	11	97,697,722 (GRCm39)	nonsense	probably null
R7001:Lasp1	UTSW	11	97,697,659 (GRCm39)	missense	probably damaging	1.00
R8063:Lasp1	UTSW	11	97,724,957 (GRCm39)	missense	probably benign	0.00
R8708:Lasp1	UTSW	11	97,697,709 (GRCm39)	missense	possibly damaging	0.67
R9710:Lasp1	UTSW	11	97,697,593 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCACTGTGTTTATTAGGGGAAGG -3'
(R):5'- TAACCTCGATGCACAGAGGC -3'

Sequencing Primer
(F):5'- TTTATTAGGGGAAGGAGGGCG -3'
(R):5'- TCCCAGGTTCCAGACTGG -3'

Posted On

2015-04-17