Incidental Mutation 'IGL02025:Pls3'
ID 184139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pls3
Ensembl Gene ENSMUSG00000016382
Gene Name plastin 3 (T-isoform)
Synonyms T-fimbrin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL02025
Quality Score
Status
Chromosome X
Chromosomal Location 74829260-74918788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74840101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 341 (L341H)
Ref Sequence ENSEMBL: ENSMUSP00000118995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033547] [ENSMUST00000114057] [ENSMUST00000114058] [ENSMUST00000114059] [ENSMUST00000137192]
AlphaFold Q99K51
Predicted Effect probably damaging
Transcript: ENSMUST00000033547
AA Change: L341H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033547
Gene: ENSMUSG00000016382
AA Change: L341H

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 376 2.36e-21 SMART
CH 399 504 3.63e-22 SMART
CH 520 625 3.02e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114057
AA Change: L341H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109691
Gene: ENSMUSG00000016382
AA Change: L341H

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 376 2.36e-21 SMART
CH 399 504 3.63e-22 SMART
CH 520 625 3.02e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114058
AA Change: L350H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109692
Gene: ENSMUSG00000016382
AA Change: L350H

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 385 1.83e-18 SMART
CH 408 513 3.63e-22 SMART
CH 529 634 3.02e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114059
AA Change: L341H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109693
Gene: ENSMUSG00000016382
AA Change: L341H

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 376 2.36e-21 SMART
CH 399 504 3.63e-22 SMART
CH 520 625 3.02e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000137192
AA Change: L341H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118995
Gene: ENSMUSG00000016382
AA Change: L341H

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 376 2.36e-21 SMART
CH 399 504 3.63e-22 SMART
CH 520 625 3.02e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,866,770 (GRCm39) probably benign Het
Akap6 A G 12: 53,187,118 (GRCm39) T1511A probably benign Het
Casp8 A C 1: 58,863,306 (GRCm39) I69L possibly damaging Het
Cdh23 T C 10: 60,220,922 (GRCm39) E1274G probably damaging Het
Cfap47 A T X: 78,554,036 (GRCm39) S230R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Depdc5 A G 5: 33,103,976 (GRCm39) probably null Het
Dock5 A G 14: 68,000,736 (GRCm39) S1656P probably damaging Het
Dock6 A G 9: 21,720,885 (GRCm39) S1707P probably damaging Het
Eddm3b T A 14: 51,354,228 (GRCm39) V72D probably damaging Het
Etl4 A G 2: 20,811,337 (GRCm39) D1508G probably damaging Het
Gm20489 A C X: 100,307,290 (GRCm39) V21G probably damaging Het
Il16 T C 7: 83,302,056 (GRCm39) N22S probably damaging Het
Ksr1 T C 11: 78,912,276 (GRCm39) probably null Het
Lrrc32 C T 7: 98,148,767 (GRCm39) R516C probably benign Het
Naa25 T C 5: 121,577,928 (GRCm39) V945A probably damaging Het
Neb T C 2: 52,197,751 (GRCm39) T501A probably benign Het
Npnt A C 3: 132,596,523 (GRCm39) probably null Het
Nr1h5 G A 3: 102,856,942 (GRCm39) probably benign Het
Opalin T C 19: 41,060,674 (GRCm39) probably benign Het
Or10ak9 G A 4: 118,726,362 (GRCm39) C127Y probably damaging Het
Or2w6 A G 13: 21,843,433 (GRCm39) V20A possibly damaging Het
Or9s13 A G 1: 92,548,269 (GRCm39) I214V probably benign Het
Pnp2 T A 14: 51,197,010 (GRCm39) L32H probably damaging Het
Prpf40b T C 15: 99,212,469 (GRCm39) F571S probably damaging Het
Prss16 A G 13: 22,187,191 (GRCm39) S460P probably damaging Het
Sh3bp4 T C 1: 89,073,008 (GRCm39) S619P probably benign Het
Sirpb1b C T 3: 15,613,863 (GRCm39) R73Q probably damaging Het
Slc22a8 G A 19: 8,571,539 (GRCm39) G90E possibly damaging Het
Tbc1d2 G A 4: 46,620,713 (GRCm39) R366W probably damaging Het
Tns2 T A 15: 102,020,484 (GRCm39) Y783* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp7 C T 15: 76,772,464 (GRCm39) S55F probably damaging Het
Other mutations in Pls3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Pls3 APN X 74,837,874 (GRCm39) missense probably damaging 1.00
R4279:Pls3 UTSW X 74,846,138 (GRCm39) missense probably benign 0.41
Posted On 2014-05-07