Incidental Mutation 'IGL00547:Pls3'
ID 13693
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 # IGL00547
Quality Score
Status
Chromosome X
Chromosomal Location 74829260-74918788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74837874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 429 (I429N)
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: I429N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033547
Gene: ENSMUSG00000016382
AA Change: I429N

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: I429N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109691
Gene: ENSMUSG00000016382
AA Change: I429N

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: I438N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109692
Gene: ENSMUSG00000016382
AA Change: I438N

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: I429N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109693
Gene: ENSMUSG00000016382
AA Change: I429N

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: I429N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118995
Gene: ENSMUSG00000016382
AA Change: I429N

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,076,302 (GRCm39) Q1345K possibly damaging Het
Arhgap40 T C 2: 158,380,546 (GRCm39) probably benign Het
Atp8b4 A G 2: 126,200,817 (GRCm39) C784R probably damaging Het
Bicral T C 17: 47,136,278 (GRCm39) I311V probably benign Het
Cep290 G A 10: 100,346,570 (GRCm39) R551H probably damaging Het
Chd9 A T 8: 91,732,426 (GRCm39) M842L probably damaging Het
Cntn6 A G 6: 104,627,361 (GRCm39) N65D probably damaging Het
Dnah8 C T 17: 31,034,677 (GRCm39) Q4199* probably null Het
Ercc3 T C 18: 32,397,598 (GRCm39) probably benign Het
Gm454 T C 5: 138,205,389 (GRCm39) noncoding transcript Het
Gm7073 A T X: 59,481,748 (GRCm39) D204E probably benign Het
Myo5a A G 9: 75,048,735 (GRCm39) H286R probably benign Het
Nelfb C A 2: 25,094,300 (GRCm39) M354I possibly damaging Het
Oas3 C T 5: 120,915,507 (GRCm39) probably benign Het
Phldb2 A G 16: 45,645,898 (GRCm39) S228P probably benign Het
Ptprq C T 10: 107,554,402 (GRCm39) V108M probably damaging Het
Rlf A G 4: 121,027,883 (GRCm39) S138P possibly damaging Het
Rpn2 T C 2: 157,156,833 (GRCm39) Y479H probably damaging Het
Sdr16c5 A T 4: 4,012,320 (GRCm39) probably benign Het
Slco6c1 A T 1: 97,015,674 (GRCm39) N372K probably benign Het
Stag2 T C X: 41,335,892 (GRCm39) I563T probably benign Het
Vrk1 T C 12: 106,024,840 (GRCm39) S239P probably damaging Het
Other mutations in Pls3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02025:Pls3 APN X 74,840,101 (GRCm39) missense probably damaging 1.00
R4279:Pls3 UTSW X 74,846,138 (GRCm39) missense probably benign 0.41
Posted On 2012-12-06