Incidental Mutation 'P0027:Lims1'
ID8052
Institutional Source Beutler Lab
Gene Symbol Lims1
Ensembl Gene ENSMUSG00000019920
Gene NameLIM and senescent cell antigen-like domains 1
Synonyms4921524A02Rik, PINCH1, C430041B13Rik, Lims1l, 2310016J22Rik
MMRRC Submission 038280-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #P0027 (G1)
Quality Score
Status Validated
Chromosome10
Chromosomal Location58323466-58424691 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58418455 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 344 (N344D)
Ref Sequence ENSEMBL: ENSMUSP00000101108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020077] [ENSMUST00000020078] [ENSMUST00000105468]
Predicted Effect probably benign
Transcript: ENSMUST00000020077
AA Change: N344D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020077
Gene: ENSMUSG00000019920
AA Change: N344D

DomainStartEndE-ValueType
LIM 71 124 3.78e-15 SMART
LIM 132 183 5.35e-15 SMART
LIM 196 246 1.01e-10 SMART
LIM 254 305 2.84e-19 SMART
LIM 313 365 3.84e-16 SMART
low complexity region 371 387 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000020078
AA Change: N294D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020078
Gene: ENSMUSG00000019920
AA Change: N294D

DomainStartEndE-ValueType
LIM 21 74 3.78e-15 SMART
LIM 82 133 5.35e-15 SMART
LIM 146 196 1.01e-10 SMART
LIM 204 255 2.84e-19 SMART
LIM 263 315 5.51e-17 SMART
low complexity region 317 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105468
AA Change: N344D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101108
Gene: ENSMUSG00000019920
AA Change: N344D

DomainStartEndE-ValueType
LIM 71 124 3.78e-15 SMART
LIM 132 183 5.35e-15 SMART
LIM 196 246 1.01e-10 SMART
LIM 254 305 2.84e-19 SMART
LIM 313 365 5.51e-17 SMART
low complexity region 367 384 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148799
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 72.9%
  • 10x: 45.3%
  • 20x: 23.4%
Validation Efficiency 93% (53/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice die shortly after implantation and have a disorganized egg cylinder by E5.5, which is degenerated by E6.5. E5.5 null embryos exhibit decreased cell proliferation and excessive cell death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicd2 C A 13: 49,379,651 P571Q probably benign Het
Camta2 A G 11: 70,684,005 I75T probably damaging Het
Casp1 A T 9: 5,299,851 H108L probably benign Het
Copa A G 1: 172,111,948 E593G possibly damaging Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Het
Kdm2a C T 19: 4,343,245 probably benign Het
Klhl14 T C 18: 21,558,135 Y446C probably damaging Het
Marco A T 1: 120,474,712 W502R probably damaging Het
Ms4a10 T C 19: 10,964,128 D159G probably damaging Het
Msi2 A T 11: 88,394,597 M207K probably damaging Het
Myh15 C T 16: 49,081,208 T249I possibly damaging Het
Nap1l5 T A 6: 58,906,825 N48I probably damaging Het
Nup188 A G 2: 30,322,681 D632G probably damaging Het
Olfr354 T C 2: 36,907,570 V208A probably benign Het
Papd7 G A 13: 69,506,955 R224* probably null Het
Phactr4 G C 4: 132,371,090 T252R probably damaging Het
Sec14l2 C T 11: 4,103,673 probably null Het
Sim2 C A 16: 94,109,422 H228N probably benign Het
Tmem26 A G 10: 68,778,718 E321G probably benign Het
Yif1b T C 7: 29,238,613 probably null Het
Other mutations in Lims1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4271:Lims1 UTSW 10 58410204 critical splice donor site probably null
R4528:Lims1 UTSW 10 58410060 missense probably damaging 1.00
R4546:Lims1 UTSW 10 58418790 intron probably benign
R4992:Lims1 UTSW 10 58410241 intron probably benign
R5380:Lims1 UTSW 10 58416670 missense probably damaging 0.99
R6207:Lims1 UTSW 10 58394564 missense possibly damaging 0.76
R6543:Lims1 UTSW 10 58412451 nonsense probably null
R6684:Lims1 UTSW 10 58399013 splice site probably null
R6762:Lims1 UTSW 10 58412545 missense probably damaging 1.00
R7373:Lims1 UTSW 10 58409620 missense probably damaging 1.00
R7434:Lims1 UTSW 10 58394479 missense probably benign
R7597:Lims1 UTSW 10 58412441 missense probably damaging 0.99
R8039:Lims1 UTSW 10 58409672 missense probably benign 0.03
T0722:Lims1 UTSW 10 58418455 missense probably benign 0.00
Z1177:Lims1 UTSW 10 58409656 missense probably benign 0.00
Posted On2012-11-20