Mutagenetix > Incidental Mutation

Incidental Mutation 'R6629:Lasp1'

525002

Institutional Source

Beutler Lab

Gene Symbol

Lasp1

Ensembl Gene

ENSMUSG00000038366

Gene Name

LIM and SH3 protein 1

Synonyms

SH3P6, Def-4

MMRRC Submission

044751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R6629 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97689826-97729590 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 97697722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 11 (Y11*)

Ref Sequence

ENSEMBL: ENSMUSP00000120458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043843] [ENSMUST00000127033] [ENSMUST00000129558] [ENSMUST00000129828] [ENSMUST00000134428] [ENSMUST00000136723] [ENSMUST00000138919] [ENSMUST00000146572] [ENSMUST00000148280] [ENSMUST00000152962] [ENSMUST00000153520] [ENSMUST00000143571]

AlphaFold

Q61792

Predicted Effect

probably null
Transcript: ENSMUST00000043843
AA Change: Y47*

SMART Domains

Protein: ENSMUSP00000042123
Gene: ENSMUSG00000038366
AA Change: Y47*

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 null
Transcript: ENSMUST00000127033
AA Change: Y11*

SMART Domains

Protein: ENSMUSP00000127792
Gene: ENSMUSG00000038366
AA Change: Y11*

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

Predicted Effect

probably null
Transcript: ENSMUST00000129558
AA Change: Y11*

SMART Domains

Protein: ENSMUSP00000123165
Gene: ENSMUSG00000038366
AA Change: Y11*

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 null
Transcript: ENSMUST00000129828
AA Change: Y11*

SMART Domains

Protein: ENSMUSP00000115308
Gene: ENSMUSG00000038366
AA Change: Y11*

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 null
Transcript: ENSMUST00000134428
AA Change: Y11*

Predicted Effect

probably null
Transcript: ENSMUST00000136723
AA Change: Y11*

SMART Domains

Protein: ENSMUSP00000114306
Gene: ENSMUSG00000038366
AA Change: Y11*

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

Predicted Effect

probably null
Transcript: ENSMUST00000138919
AA Change: Y11*

Predicted Effect

probably null
Transcript: ENSMUST00000146572
AA Change: Y11*

SMART Domains

Protein: ENSMUSP00000121907
Gene: ENSMUSG00000038366
AA Change: Y11*

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 null
Transcript: ENSMUST00000148280
AA Change: Y11*

SMART Domains

Protein: ENSMUSP00000123050
Gene: ENSMUSG00000038366
AA Change: Y11*

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	2e-7	BLAST
NEBU	26	56	1.1e-8	SMART
NEBU	62	92	1.05e-9	SMART
low complexity region	138	144	N/A	INTRINSIC
SCOP:d1awj__	155	186	7e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000152962
AA Change: Y11*

SMART Domains

Protein: ENSMUSP00000120645
Gene: ENSMUSG00000038366
AA Change: Y11*

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 null
Transcript: ENSMUST00000153520
AA Change: Y11*

Predicted Effect

probably benign
Transcript: ENSMUST00000143571

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

97% (38/39)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn3	A	T	12: 101,903,665 (GRCm39)	M180K	probably benign	Het
Bnip2	G	T	9: 69,909,393 (GRCm39)	R236L	probably null	Het
Boc	T	C	16: 44,312,724 (GRCm39)	D582G	probably benign	Het
Cacul1	T	C	19: 60,568,805 (GRCm39)	S118G	probably benign	Het
Ccdc192	T	C	18: 57,863,852 (GRCm39)	S219P	possibly damaging	Het
Cpa2	A	T	6: 30,554,193 (GRCm39)	D271V	probably damaging	Het
Cubn	G	A	2: 13,435,683 (GRCm39)	T1091M	probably damaging	Het
Dlgap2	A	G	8: 14,881,465 (GRCm39)	T846A	probably benign	Het
Eif5	G	T	12: 111,510,042 (GRCm39)	A329S	probably damaging	Het
Fam136b-ps	G	A	15: 31,276,962 (GRCm39)		probably benign	Het
Gnrhr	A	G	5: 86,330,168 (GRCm39)	V284A	probably benign	Het
Grin3a	A	G	4: 49,844,991 (GRCm39)	S31P	probably damaging	Het
Hectd2	T	C	19: 36,592,938 (GRCm39)	L701P	probably damaging	Het
Hook1	C	T	4: 95,889,507 (GRCm39)	T241I	probably benign	Het
Kif5a	A	G	10: 127,084,123 (GRCm39)	V52A	probably damaging	Het
Meltf	A	G	16: 31,703,894 (GRCm39)	Y207C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	4: 87,759,504 (GRCm39)		probably benign	Het
Nek1	A	G	8: 61,507,367 (GRCm39)		probably null	Het
Notch2	C	A	3: 98,028,197 (GRCm39)	N969K	possibly damaging	Het
Or4c116	T	A	2: 88,942,506 (GRCm39)	M117L	probably benign	Het
Pcnx2	C	T	8: 126,617,851 (GRCm39)	G135R	probably benign	Het
Pla2g4f	A	T	2: 120,138,723 (GRCm39)	L242Q	probably damaging	Het
Plcxd2	T	G	16: 45,785,470 (GRCm39)	T312P	probably damaging	Het
Prpf4	G	A	4: 62,336,097 (GRCm39)	V275I	possibly damaging	Het
Prpf8	G	A	11: 75,386,252 (GRCm39)		probably null	Het
Pxn	T	C	5: 115,692,121 (GRCm39)	L401P	probably damaging	Het
Rab44	A	T	17: 29,354,754 (GRCm39)		probably benign	Het
Rfx6	C	A	10: 51,601,586 (GRCm39)	T669K	probably benign	Het
Rgs16	A	G	1: 153,619,420 (GRCm39)	N142S	probably damaging	Het
Rhobtb1	A	G	10: 69,106,146 (GRCm39)	E237G	possibly damaging	Het
Rsbn1	A	C	3: 103,835,757 (GRCm39)	D265A	probably damaging	Het
Rufy4	A	G	1: 74,171,526 (GRCm39)		probably null	Het
Slc4a1	C	A	11: 102,252,048 (GRCm39)	E19*	probably null	Het
Tctn1	A	G	5: 122,380,731 (GRCm39)	S526P	probably damaging	Het
Tspear	A	T	10: 77,706,343 (GRCm39)	H371L	probably benign	Het
Vmn1r34	A	T	6: 66,614,499 (GRCm39)	F80I	probably benign	Het
Wdr75	G	A	1: 45,851,216 (GRCm39)	S264N	probably damaging	Het
Zfp652	A	T	11: 95,654,616 (GRCm39)	N340Y	probably damaging	Het
Zp3	A	G	5: 136,016,190 (GRCm39)	T306A	probably benign	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
R3908: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
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'- TGTTCTTACAGCCTTGGCTG -3'
(R):5'- CAACTTTGCACAACTGGCTTCAC -3'

Sequencing Primer
(F):5'- AGCCTTGGCTGTGGGAC -3'
(R):5'- GCCTTGCCATGCGATCTTAAGAAAG -3'

Posted On

2018-06-22