Incidental Mutation 'R2899:Limk1'
ID 261407
Institutional Source Beutler Lab
Gene Symbol Limk1
Ensembl Gene ENSMUSG00000029674
Gene Name LIM domain kinase 1
Synonyms
MMRRC Submission 040487-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2899 (G1)
Quality Score 209
Status Validated
Chromosome 5
Chromosomal Location 134684893-134717452 bp(-) (GRCm39)
Type of Mutation splice site (41 bp from exon)
DNA Base Change (assembly) A to T at 134717154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000015137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015137]
AlphaFold P53668
Predicted Effect probably null
Transcript: ENSMUST00000015137
SMART Domains Protein: ENSMUSP00000015137
Gene: ENSMUSG00000029674

DomainStartEndE-ValueType
LIM 24 75 5.3e-19 SMART
LIM 83 137 1.73e-9 SMART
PDZ 176 258 1.51e-9 SMART
low complexity region 266 277 N/A INTRINSIC
Pfam:Pkinase 339 604 1.7e-49 PFAM
Pfam:Pkinase_Tyr 339 604 1.5e-55 PFAM
Pfam:Kdo 345 509 2.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132027
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (30/31)
MGI Phenotype FUNCTION: This gene encodes a member of the LIM kinase family of proteins. This protein is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein also stimulates axon growth and may play a role in brain development. Homozygous knockout mice for this gene exhibit reduced bone mass, abnormal neuronal morphology and altered synaptic function. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display an abnormal actin cytoskeleton in neurons of the central nervous system and structural abnormalities of the dendritic spines. Long term potentiation is altered and behavioral anomalies are seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,443 (GRCm39) K211E probably benign Het
Amigo3 T C 9: 107,931,353 (GRCm39) S259P probably benign Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Cd200r4 T C 16: 44,653,728 (GRCm39) I175T probably damaging Het
Cep131 T C 11: 119,962,854 (GRCm39) D425G probably benign Het
Clmp T C 9: 40,693,688 (GRCm39) S302P probably damaging Het
Dusp6 T C 10: 99,099,707 (GRCm39) S52P probably damaging Het
Epha5 T A 5: 84,381,667 (GRCm39) I395F probably damaging Het
F5 A G 1: 164,014,469 (GRCm39) E580G possibly damaging Het
Fbxo3 T A 2: 103,881,480 (GRCm39) Y271N probably damaging Het
Fuca1 G A 4: 135,650,323 (GRCm39) W131* probably null Het
Gdf7 C T 12: 8,348,470 (GRCm39) A276T unknown Het
Lrrc37a G A 11: 103,388,690 (GRCm39) T2245I unknown Het
Neb A G 2: 52,075,335 (GRCm39) I210T probably benign Het
Nf1 T G 11: 79,303,584 (GRCm39) N420K possibly damaging Het
Or5b101 T A 19: 13,005,058 (GRCm39) I212F probably damaging Het
Pask G T 1: 93,262,269 (GRCm39) T197K probably damaging Het
Potefam1 C A 2: 111,051,015 (GRCm39) probably benign Het
Pou4f3 T C 18: 42,528,588 (GRCm39) L177P probably benign Het
Rassf1 G A 9: 107,431,393 (GRCm39) G107R probably null Het
Rdx T C 9: 51,980,211 (GRCm39) probably benign Het
Saraf T C 8: 34,628,385 (GRCm39) L77P probably damaging Het
Syngap1 A G 17: 27,178,959 (GRCm39) E483G probably damaging Het
Tsku T C 7: 98,002,124 (GRCm39) N69S probably damaging Het
Usp36 G A 11: 118,167,582 (GRCm39) probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zc3h6 T C 2: 128,844,152 (GRCm39) V232A probably benign Het
Zfp143 T A 7: 109,671,336 (GRCm39) S99R probably damaging Het
Zkscan3 A T 13: 21,578,143 (GRCm39) L219Q probably damaging Het
Other mutations in Limk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Limk1 APN 5 134,686,754 (GRCm39) unclassified probably benign
IGL02029:Limk1 APN 5 134,686,808 (GRCm39) nonsense probably null
IGL02211:Limk1 APN 5 134,686,491 (GRCm39) missense probably damaging 1.00
IGL03000:Limk1 APN 5 134,699,355 (GRCm39) missense probably damaging 0.99
extremist UTSW 5 134,699,295 (GRCm39) missense probably damaging 1.00
R0046:Limk1 UTSW 5 134,701,615 (GRCm39) missense probably damaging 1.00
R0046:Limk1 UTSW 5 134,701,615 (GRCm39) missense probably damaging 1.00
R0058:Limk1 UTSW 5 134,688,725 (GRCm39) missense probably damaging 1.00
R0058:Limk1 UTSW 5 134,688,725 (GRCm39) missense probably damaging 1.00
R0071:Limk1 UTSW 5 134,690,245 (GRCm39) missense probably benign 0.01
R0180:Limk1 UTSW 5 134,698,115 (GRCm39) missense probably damaging 0.97
R1456:Limk1 UTSW 5 134,686,364 (GRCm39) missense probably benign 0.09
R2225:Limk1 UTSW 5 134,690,410 (GRCm39) splice site probably null
R2379:Limk1 UTSW 5 134,708,335 (GRCm39) unclassified probably benign
R3423:Limk1 UTSW 5 134,701,523 (GRCm39) critical splice donor site probably null
R4235:Limk1 UTSW 5 134,699,332 (GRCm39) missense probably benign 0.00
R4516:Limk1 UTSW 5 134,705,640 (GRCm39) intron probably benign
R4566:Limk1 UTSW 5 134,715,537 (GRCm39) missense probably benign 0.12
R4752:Limk1 UTSW 5 134,699,295 (GRCm39) missense probably damaging 1.00
R5682:Limk1 UTSW 5 134,694,059 (GRCm39) critical splice donor site probably null
R5917:Limk1 UTSW 5 134,686,789 (GRCm39) missense probably damaging 1.00
R6163:Limk1 UTSW 5 134,686,809 (GRCm39) missense probably damaging 1.00
R6479:Limk1 UTSW 5 134,690,373 (GRCm39) utr 3 prime probably benign
R6952:Limk1 UTSW 5 134,699,332 (GRCm39) missense possibly damaging 0.76
R7009:Limk1 UTSW 5 134,701,553 (GRCm39) missense probably benign
R7147:Limk1 UTSW 5 134,686,195 (GRCm39) missense probably benign 0.14
R7453:Limk1 UTSW 5 134,698,091 (GRCm39) missense probably damaging 1.00
R7471:Limk1 UTSW 5 134,686,825 (GRCm39) splice site probably null
R9427:Limk1 UTSW 5 134,686,358 (GRCm39) missense probably benign 0.07
R9449:Limk1 UTSW 5 134,701,864 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTGGATGAACAGTAACCTGGG -3'
(R):5'- ACAGTTCCAACAGGCAGAGC -3'

Sequencing Primer
(F):5'- TGGATGAACAGTAACCTGGGAGAAG -3'
(R):5'- TGTCCCTCAAGCCTGGTGTG -3'
Posted On 2015-01-23