Incidental Mutation 'R6576:Lasp1'
ID 523518
Institutional Source Beutler Lab
Gene Symbol Lasp1
Ensembl Gene ENSMUSG00000038366
Gene Name LIM and SH3 protein 1
Synonyms SH3P6, Def-4
MMRRC Submission 044700-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R6576 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97689826-97729590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97724402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 94 (R94C)
Ref Sequence ENSEMBL: ENSMUSP00000123050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043843] [ENSMUST00000129558] [ENSMUST00000129828] [ENSMUST00000146572] [ENSMUST00000148280] [ENSMUST00000152962]
AlphaFold Q61792
Predicted Effect probably damaging
Transcript: ENSMUST00000043843
AA Change: R130C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042123
Gene: ENSMUSG00000038366
AA Change: R130C

DomainStartEndE-ValueType
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: ENSMUST00000107568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127575
Predicted Effect probably damaging
Transcript: ENSMUST00000129558
AA Change: R94C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123165
Gene: ENSMUSG00000038366
AA Change: R94C

DomainStartEndE-ValueType
Blast:LIM 1 20 4e-7 BLAST
NEBU 26 56 1.1e-8 SMART
NEBU 62 92 1.05e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129828
AA Change: R94C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115308
Gene: ENSMUSG00000038366
AA Change: R94C

DomainStartEndE-ValueType
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: ENSMUST00000146572
SMART Domains Protein: ENSMUSP00000121907
Gene: ENSMUSG00000038366

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000148280
AA Change: R94C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123050
Gene: ENSMUSG00000038366
AA Change: R94C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000152962
AA Change: R94C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120645
Gene: ENSMUSG00000038366
AA Change: R94C

DomainStartEndE-ValueType
Blast:LIM 1 20 4e-7 BLAST
NEBU 26 56 1.1e-8 SMART
NEBU 62 92 1.05e-9 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 92% (34/37)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,450,842 (GRCm39) T102S possibly damaging Het
Aff4 C A 11: 53,291,268 (GRCm39) H743N probably damaging Het
Apba3 A G 10: 81,108,925 (GRCm39) T563A probably benign Het
Arhgap20 T C 9: 51,760,578 (GRCm39) S774P probably benign Het
Asap2 A G 12: 21,294,704 (GRCm39) Y528C probably damaging Het
Cep162 A G 9: 87,099,198 (GRCm39) S767P probably benign Het
Ces1b T A 8: 93,783,547 (GRCm39) T558S probably benign Het
Chd8 T C 14: 52,453,533 (GRCm39) Y1176C probably damaging Het
Cldn15 A T 5: 137,003,470 (GRCm39) E157D probably damaging Het
Col4a3 T A 1: 82,686,295 (GRCm39) probably null Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Dnaaf3 A G 7: 4,526,379 (GRCm39) I566T probably benign Het
Drc7 A T 8: 95,801,886 (GRCm39) I716F probably damaging Het
Eddm13 G A 7: 6,280,541 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,506 (GRCm39) T339I probably damaging Het
Fat4 T C 3: 39,033,839 (GRCm39) I2497T probably benign Het
Fmo6 A G 1: 162,750,264 (GRCm39) F264S probably damaging Het
Gtf2i T C 5: 134,292,556 (GRCm39) D356G probably damaging Het
Id1 T C 2: 152,578,583 (GRCm39) V108A probably benign Het
Kcnq3 T C 15: 65,897,027 (GRCm39) D291G possibly damaging Het
Klc3 G T 7: 19,131,905 (GRCm39) D157E possibly damaging Het
Lmbr1 A T 5: 29,496,308 (GRCm39) M93K probably damaging Het
Lrrc75a G A 11: 62,496,695 (GRCm39) P289L probably damaging Het
Med11 G T 11: 70,343,996 (GRCm39) K105N probably benign Het
Mrgprx2 A T 7: 48,132,380 (GRCm39) I146N probably damaging Het
Mrpl20 A G 4: 155,891,371 (GRCm39) I69V probably benign Het
Pik3c3 A G 18: 30,475,794 (GRCm39) probably benign Het
Rad54b T A 4: 11,601,577 (GRCm39) N377K probably benign Het
Rilp A G 11: 75,403,218 (GRCm39) probably null Het
Ripk2 A T 4: 16,131,558 (GRCm39) probably null Het
Rnf167 A C 11: 70,540,588 (GRCm39) K156T possibly damaging Het
Shld2 T C 14: 33,990,199 (GRCm39) T236A probably damaging Het
Snx29 T C 16: 11,532,920 (GRCm39) probably null Het
Sox6 T A 7: 115,300,937 (GRCm39) I177F probably damaging Het
Tln1 A T 4: 43,555,419 (GRCm39) probably null Het
Unc13a T A 8: 72,106,122 (GRCm39) T661S probably benign Het
Vmn2r23 A G 6: 123,710,232 (GRCm39) T512A probably benign Het
Vmn2r87 G A 10: 130,314,654 (GRCm39) L311F probably benign Het
Wdr64 G T 1: 175,633,494 (GRCm39) S915I possibly damaging Het
Xpo5 T A 17: 46,551,734 (GRCm39) probably null Het
Zswim8 T C 14: 20,771,942 (GRCm39) V1548A probably benign Het
Other mutations in Lasp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAGCTTGTCATGGTCAAATCACTTAG -3'
(R):5'- TTGTGTATGTAGCCGCCTCAC -3'

Sequencing Primer
(F):5'- ACAACACGGTCTCGCTATGTTG -3'
(R):5'- GTATGTAGCCGCCTCACTCTCC -3'
Posted On 2018-06-22