Incidental Mutation 'R2126:Lasp1'
ID 229920
Institutional Source Beutler Lab
Gene Symbol Lasp1
Ensembl Gene ENSMUSG00000038366
Gene Name LIM and SH3 protein 1
Synonyms SH3P6, Def-4
MMRRC Submission 040129-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R2126 (G1)
Quality Score 165
Status Not validated
Chromosome 11
Chromosomal Location 97689826-97729590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97726960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 227 (D227E)
Ref Sequence ENSEMBL: ENSMUSP00000042123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043843] [ENSMUST00000054783] [ENSMUST00000129558] [ENSMUST00000129828] [ENSMUST00000146572] [ENSMUST00000148280] [ENSMUST00000152962]
AlphaFold Q61792
Predicted Effect probably benign
Transcript: ENSMUST00000043843
AA Change: D227E

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042123
Gene: ENSMUSG00000038366
AA Change: D227E

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 probably benign
Transcript: ENSMUST00000054783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127575
Predicted Effect probably benign
Transcript: ENSMUST00000129558
SMART Domains Protein: ENSMUSP00000123165
Gene: ENSMUSG00000038366

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

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

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: ENSMUST00000148280
SMART Domains Protein: ENSMUSP00000123050
Gene: ENSMUSG00000038366

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 benign
Transcript: ENSMUST00000152962
SMART Domains Protein: ENSMUSP00000120645
Gene: ENSMUSG00000038366

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 116 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,066 (GRCm39) T255A possibly damaging Het
Acat3 C T 17: 13,146,294 (GRCm39) A230T probably benign Het
Acsl1 C A 8: 46,986,663 (GRCm39) P650Q probably benign Het
Adgrl3 T A 5: 81,660,383 (GRCm39) I316N probably damaging Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
AI429214 T A 8: 37,461,362 (GRCm39) V170E probably benign Het
Akap13 G A 7: 75,375,052 (GRCm39) G1895S possibly damaging Het
Alpk2 G A 18: 65,483,439 (GRCm39) Q190* probably null Het
Aox3 C A 1: 58,197,375 (GRCm39) Q574K probably benign Het
Apeh A G 9: 107,962,866 (GRCm39) Y702H probably damaging Het
Aqp11 A G 7: 97,386,692 (GRCm39) I151T probably benign Het
Arhgap28 A G 17: 68,176,010 (GRCm39) V363A possibly damaging Het
Arhgef18 A G 8: 3,501,939 (GRCm39) N699S probably damaging Het
Asnsd1 A G 1: 53,386,476 (GRCm39) S384P probably benign Het
Atl1 G T 12: 69,978,431 (GRCm39) probably null Het
Atp13a2 A T 4: 140,722,702 (GRCm39) D203V possibly damaging Het
Axdnd1 A T 1: 156,160,784 (GRCm39) N164K probably benign Het
Bnipl T A 3: 95,152,994 (GRCm39) I162F probably damaging Het
Cacna1d A T 14: 29,845,120 (GRCm39) L655I probably damaging Het
Canx T C 11: 50,195,185 (GRCm39) I294M probably damaging Het
Casz1 T C 4: 149,030,521 (GRCm39) F1180S probably damaging Het
Cav3 T C 6: 112,449,344 (GRCm39) Y121H probably benign Het
Cd4 A C 6: 124,847,499 (GRCm39) S222A probably benign Het
Cds1 T C 5: 101,960,416 (GRCm39) I289T probably benign Het
Cep112 T C 11: 108,399,084 (GRCm39) F328L probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap44 A T 16: 44,230,838 (GRCm39) D273V probably benign Het
Cfap91 T C 16: 38,162,124 (GRCm39) T6A probably benign Het
Clec7a C T 6: 129,447,918 (GRCm39) G49D probably benign Het
Col22a1 G A 15: 71,729,102 (GRCm39) Q599* probably null Het
Col6a5 T A 9: 105,822,799 (GRCm39) H186L unknown Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dnah12 A T 14: 26,445,613 (GRCm39) R725* probably null Het
Dnajc10 G A 2: 80,181,078 (GRCm39) probably null Het
Edem3 A T 1: 151,670,482 (GRCm39) H337L possibly damaging Het
Eif2ak4 A T 2: 118,252,604 (GRCm39) H392L probably benign Het
Ercc6l2 G A 13: 63,996,585 (GRCm39) V365I probably damaging Het
Fan1 T C 7: 63,996,636 (GRCm39) E978G probably damaging Het
Fcrl6 C T 1: 172,426,815 (GRCm39) V44M probably benign Het
Gaa G A 11: 119,161,108 (GRCm39) W50* probably null Het
Gm10032 T C 14: 67,030,227 (GRCm39) noncoding transcript Het
Gm10985 CTCTAT CT 3: 53,752,670 (GRCm39) probably null Het
Gprc5b G T 7: 118,583,398 (GRCm39) P157Q probably damaging Het
Gsdmc3 G A 15: 63,730,383 (GRCm39) Q394* probably null Het
Gucd1 A G 10: 75,347,922 (GRCm39) S38P probably damaging Het
Higd1a A T 9: 121,679,313 (GRCm39) I58N probably damaging Het
Hmx3 G C 7: 131,146,278 (GRCm39) V329L possibly damaging Het
Hnrnpul2 A T 19: 8,801,802 (GRCm39) R337* probably null Het
Idua T A 5: 108,829,304 (GRCm39) H368Q possibly damaging Het
Ifih1 A G 2: 62,453,811 (GRCm39) V218A probably benign Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Klhl30 T A 1: 91,286,499 (GRCm39) probably null Het
Lhx6 A G 2: 35,981,336 (GRCm39) I85T possibly damaging Het
Limch1 A G 5: 67,187,103 (GRCm39) D840G probably damaging Het
Loxl4 C G 19: 42,592,402 (GRCm39) E385D probably damaging Het
Lrrtm4 A T 6: 79,998,722 (GRCm39) I44F probably damaging Het
Ltbp2 T C 12: 84,832,483 (GRCm39) probably null Het
Lyg1 T C 1: 37,989,755 (GRCm39) Y44C probably damaging Het
Map1a A G 2: 121,129,122 (GRCm39) I129V probably damaging Het
Med27 C T 2: 29,414,442 (GRCm39) Q150* probably null Het
Ms4a5 A T 19: 11,256,732 (GRCm39) I55N probably damaging Het
Muc5ac T C 7: 141,364,479 (GRCm39) S2597P possibly damaging Het
Mxd1 A C 6: 86,628,422 (GRCm39) probably null Het
Myo3a A G 2: 22,468,186 (GRCm39) D480G probably benign Het
Neb T C 2: 52,200,650 (GRCm39) Y343C probably damaging Het
Niban1 A C 1: 151,571,886 (GRCm39) E277A probably damaging Het
Niban1 A G 1: 151,584,884 (GRCm39) I494V possibly damaging Het
Nrn1 A C 13: 36,914,180 (GRCm39) V34G probably damaging Het
Or4k52 A G 2: 111,610,841 (GRCm39) M59V probably damaging Het
Or4n5 A G 14: 50,132,524 (GRCm39) I245T probably benign Het
Or52b1 C T 7: 104,978,459 (GRCm39) W313* probably null Het
Or56a3 A G 7: 104,735,822 (GRCm39) T300A probably damaging Het
Or8b39 G T 9: 37,996,572 (GRCm39) V147L probably benign Het
Or8h9 T C 2: 86,789,442 (GRCm39) Y120C possibly damaging Het
Or8k40 A T 2: 86,584,796 (GRCm39) N95K probably benign Het
Pdia4 A T 6: 47,773,771 (GRCm39) V526E probably damaging Het
Pdia6 T C 12: 17,328,546 (GRCm39) V167A probably damaging Het
Pgk2 A G 17: 40,518,400 (GRCm39) F343L probably damaging Het
Piwil1 T C 5: 128,831,160 (GRCm39) V827A probably damaging Het
Plag1 A T 4: 3,904,169 (GRCm39) Y341N possibly damaging Het
Plch2 T C 4: 155,083,456 (GRCm39) E393G probably damaging Het
Ptprg T A 14: 12,154,355 (GRCm38) M692K probably benign Het
Rassf8 G A 6: 145,760,908 (GRCm39) R78H probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,341,027 (GRCm39) Q3556R probably damaging Het
Rpa2 T C 4: 132,496,099 (GRCm39) probably null Het
Rpe T G 1: 66,755,139 (GRCm39) F174V possibly damaging Het
Sbf2 T C 7: 110,159,502 (GRCm39) D36G probably damaging Het
Scn2a T A 2: 65,582,423 (GRCm39) Y1590* probably null Het
Slc24a4 T C 12: 102,189,018 (GRCm39) V151A probably damaging Het
Slc30a8 A T 15: 52,159,330 (GRCm39) M17L probably benign Het
Slit3 T C 11: 35,579,506 (GRCm39) Y1228H probably damaging Het
Smad4 G A 18: 73,795,815 (GRCm39) T193M probably benign Het
Smtn T A 11: 3,480,045 (GRCm39) H392L probably benign Het
St8sia3 A G 18: 64,402,745 (GRCm39) D128G probably damaging Het
Sucla2 A T 14: 73,830,108 (GRCm39) M382L possibly damaging Het
Tbx5 A G 5: 119,974,988 (GRCm39) T4A probably benign Het
Tdrd5 T C 1: 156,104,143 (GRCm39) R528G probably damaging Het
Tex44 T C 1: 86,354,811 (GRCm39) L240P probably benign Het
Tns4 A T 11: 98,970,904 (GRCm39) probably null Het
Trappc10 A T 10: 78,039,758 (GRCm39) V731E possibly damaging Het
Ttf1 A G 2: 28,961,357 (GRCm39) K582E probably damaging Het
Ttf2 C A 3: 100,855,509 (GRCm39) Q895H possibly damaging Het
Ttll6 A G 11: 96,038,358 (GRCm39) E402G probably damaging Het
Ttn A T 2: 76,720,436 (GRCm39) probably null Het
Ugt8a T C 3: 125,669,195 (GRCm39) D303G probably damaging Het
Ulk1 G T 5: 110,940,302 (GRCm39) A373D probably benign Het
Vmn2r13 A G 5: 109,306,058 (GRCm39) S507P probably benign Het
Vmn2r19 T A 6: 123,293,033 (GRCm39) D358E possibly damaging Het
Vmn2r88 T C 14: 51,651,264 (GRCm39) S201P probably benign Het
Zfp36l2 A G 17: 84,494,403 (GRCm39) F78S probably damaging Het
Zfp454 A C 11: 50,764,822 (GRCm39) S203R probably benign Het
Zfp616 C A 11: 73,976,229 (GRCm39) Q833K probably benign Het
Znhit2 A G 19: 6,112,091 (GRCm39) T279A probably benign Het
Zswim3 T A 2: 164,661,913 (GRCm39) I131N 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
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
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

Sequencing Primer
Posted On 2014-09-17