Incidental Mutation 'IGL00668:Lima1'
ID 13584
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lima1
Ensembl Gene ENSMUSG00000023022
Gene Name LIM domain and actin binding 1
Synonyms 3526402A12Rik, EPLIN, epithelial protein lost in neoplasm, 1110021C24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL00668
Quality Score
Status
Chromosome 15
Chromosomal Location 99676351-99773292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99700038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 147 (V147E)
Ref Sequence ENSEMBL: ENSMUSP00000104652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073691] [ENSMUST00000109024]
AlphaFold Q9ERG0
Predicted Effect possibly damaging
Transcript: ENSMUST00000073691
AA Change: V307E

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073371
Gene: ENSMUSG00000023022
AA Change: V307E

DomainStartEndE-ValueType
LIM 387 439 5.14e-17 SMART
low complexity region 534 546 N/A INTRINSIC
low complexity region 570 587 N/A INTRINSIC
low complexity region 598 609 N/A INTRINSIC
low complexity region 613 626 N/A INTRINSIC
low complexity region 747 753 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083709
Predicted Effect possibly damaging
Transcript: ENSMUST00000109024
AA Change: V147E

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104652
Gene: ENSMUSG00000023022
AA Change: V147E

DomainStartEndE-ValueType
LIM 227 279 5.14e-17 SMART
low complexity region 374 386 N/A INTRINSIC
low complexity region 410 427 N/A INTRINSIC
low complexity region 438 449 N/A INTRINSIC
low complexity region 453 466 N/A INTRINSIC
low complexity region 587 593 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230033
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Csmd3 A T 15: 47,777,341 (GRCm39) D1188E probably damaging Het
Dmxl1 T C 18: 50,072,620 (GRCm39) L2726P possibly damaging Het
Dync2i1 T C 12: 116,221,048 (GRCm39) H21R probably benign Het
Il23r T C 6: 67,400,612 (GRCm39) T573A probably damaging Het
Med12 T C X: 100,324,792 (GRCm39) S666P probably benign Het
Mpo A G 11: 87,688,160 (GRCm39) N273S probably benign Het
Phf20l1 T A 15: 66,504,698 (GRCm39) Y780N probably damaging Het
Pigk A G 3: 152,448,173 (GRCm39) T179A possibly damaging Het
Sec23b A G 2: 144,401,138 (GRCm39) probably benign Het
Setbp1 T C 18: 78,900,985 (GRCm39) E894G probably damaging Het
Slc38a11 T A 2: 65,184,126 (GRCm39) D175V probably damaging Het
Sptan1 G A 2: 29,883,968 (GRCm39) probably null Het
Tsbp1 A G 17: 34,639,394 (GRCm39) probably benign Het
Wmp T A X: 106,990,802 (GRCm39) Y37F possibly damaging Het
Other mutations in Lima1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Lima1 APN 15 99,741,581 (GRCm39) missense probably damaging 1.00
IGL02618:Lima1 APN 15 99,700,097 (GRCm39) splice site probably benign
IGL03124:Lima1 APN 15 99,694,615 (GRCm39) splice site probably benign
R0312:Lima1 UTSW 15 99,678,968 (GRCm39) missense possibly damaging 0.69
R0599:Lima1 UTSW 15 99,700,040 (GRCm39) missense probably damaging 1.00
R0601:Lima1 UTSW 15 99,678,353 (GRCm39) missense probably damaging 0.98
R1423:Lima1 UTSW 15 99,717,626 (GRCm39) nonsense probably null
R1704:Lima1 UTSW 15 99,717,617 (GRCm39) missense probably benign 0.00
R1784:Lima1 UTSW 15 99,678,344 (GRCm39) missense possibly damaging 0.93
R1819:Lima1 UTSW 15 99,717,817 (GRCm39) missense probably benign 0.01
R1968:Lima1 UTSW 15 99,717,565 (GRCm39) missense probably benign
R2352:Lima1 UTSW 15 99,692,396 (GRCm39) missense probably benign 0.02
R2908:Lima1 UTSW 15 99,699,991 (GRCm39) critical splice donor site probably null
R4582:Lima1 UTSW 15 99,678,873 (GRCm39) missense possibly damaging 0.65
R4672:Lima1 UTSW 15 99,741,590 (GRCm39) missense probably damaging 1.00
R4858:Lima1 UTSW 15 99,717,457 (GRCm39) missense probably benign 0.23
R6140:Lima1 UTSW 15 99,678,939 (GRCm39) missense probably damaging 1.00
R6614:Lima1 UTSW 15 99,681,461 (GRCm39) missense probably damaging 1.00
R6898:Lima1 UTSW 15 99,679,148 (GRCm39) missense possibly damaging 0.61
R7598:Lima1 UTSW 15 99,717,577 (GRCm39) missense probably benign 0.01
R7601:Lima1 UTSW 15 99,717,577 (GRCm39) missense probably benign 0.01
R7878:Lima1 UTSW 15 99,717,431 (GRCm39) missense probably benign 0.12
R8219:Lima1 UTSW 15 99,678,671 (GRCm39) missense probably damaging 1.00
R8348:Lima1 UTSW 15 99,678,753 (GRCm39) missense probably benign 0.00
R8733:Lima1 UTSW 15 99,678,699 (GRCm39) missense probably damaging 1.00
R8821:Lima1 UTSW 15 99,704,306 (GRCm39) missense probably benign 0.00
R9285:Lima1 UTSW 15 99,678,687 (GRCm39) missense probably damaging 1.00
R9300:Lima1 UTSW 15 99,704,320 (GRCm39) missense probably benign 0.01
Posted On 2012-12-06