Incidental Mutation 'IGL03375:Tpm3'
ID420455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpm3
Ensembl Gene ENSMUSG00000027940
Gene Nametropomyosin 3, gamma
SynonymsskalphaTM.2, Trop-5, Tpm5, hTMnm, Tm5NM, gamma-TM, Tpm-5, hTM30nm
Accession Numbers

Ncbi RefSeq: NM_022314.3, NM_001253738.1, NM_001253740.1; MGI:1890149

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03375
Quality Score
Status
Chromosome3
Chromosomal Location90072649-90100902 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90073772 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 56 (E56G)
Ref Sequence ENSEMBL: ENSMUSP00000113578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119570] [ENSMUST00000121503]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104803
Predicted Effect probably benign
Transcript: ENSMUST00000119570
AA Change: E57G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113978
Gene: ENSMUSG00000027940
AA Change: E57G

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 8 154 4.2e-35 PFAM
Pfam:CLZ 10 75 1.2e-9 PFAM
Pfam:Tropomyosin 49 285 3.7e-91 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121503
AA Change: E56G

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113578
Gene: ENSMUSG00000027940
AA Change: E56G

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 1.3e-36 PFAM
Pfam:Tropomyosin 48 284 4.7e-103 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3040795
Lethality: E1-E3
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous inactivation of this gene results in early embryonic death, prior to blastocyst formation. Mice homozygous for a targeted allele lacking exon 9 exhibit dysmorphic T-tubules and contraction in skeletal muscles. [provided by MGI curators]
Allele List at MGI

All alleles(76) : Targeted(5) Gene trapped(71)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 A G 16: 38,602,828 S959P probably damaging Het
Arrb2 G A 11: 70,436,179 G24D probably damaging Het
Catsper4 A G 4: 134,218,208 I180T probably damaging Het
Chst15 G A 7: 132,270,457 Q32* probably null Het
Cntnap5c A T 17: 58,162,205 Y594F possibly damaging Het
Cse1l T A 2: 166,943,057 probably benign Het
Dab1 A T 4: 104,681,601 I201F possibly damaging Het
Eif2ak4 T C 2: 118,422,318 V457A probably benign Het
Fkbp1b T C 12: 4,838,220 probably benign Het
Fryl C A 5: 73,088,449 V1122F possibly damaging Het
Gas2l2 A G 11: 83,426,210 probably benign Het
Gm960 T C 19: 4,698,178 E164G probably benign Het
Gstt2 A T 10: 75,832,821 probably null Het
Hcst T G 7: 30,418,611 probably benign Het
Hectd4 A G 5: 121,328,382 E2420G possibly damaging Het
Hist2h4 T C 3: 96,263,142 T55A possibly damaging Het
Ifi206 A T 1: 173,480,778 S551T probably benign Het
Itgb3bp A G 4: 99,769,487 probably benign Het
Krtap6-2 A G 16: 89,419,756 Y108H unknown Het
Krtap6-5 T G 16: 89,047,852 probably benign Het
Muc5b A G 7: 141,861,962 T2882A possibly damaging Het
Nup214 C T 2: 32,010,221 T854M probably damaging Het
Olfml2b A G 1: 170,649,832 K179E probably benign Het
Olfr1281 A T 2: 111,328,884 H155L probably damaging Het
Olfr149 A G 9: 39,702,575 S65P probably damaging Het
Per2 A T 1: 91,424,228 I852K possibly damaging Het
Pkhd1 A T 1: 20,117,023 I3687N probably damaging Het
Slc7a2 A T 8: 40,916,373 S622C probably damaging Het
Smarcc2 G A 10: 128,482,912 V719I probably damaging Het
Syne2 T C 12: 75,925,435 I1033T possibly damaging Het
Tmod1 T C 4: 46,096,999 I264T probably damaging Het
Tmtc3 G A 10: 100,447,719 A658V possibly damaging Het
Tra2b T C 16: 22,247,243 probably benign Het
Trmu T A 15: 85,894,937 Y262N possibly damaging Het
Uox C T 3: 146,625,835 T213I probably damaging Het
Vps13d A G 4: 145,091,947 W2R probably damaging Het
Other mutations in Tpm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Tpm3 APN 3 90087717 missense probably damaging 0.99
IGL00949:Tpm3 APN 3 90089858 missense probably damaging 1.00
IGL01955:Tpm3 APN 3 90088435 missense probably benign 0.00
IGL01970:Tpm3 APN 3 90089828 missense probably damaging 1.00
IGL02605:Tpm3 APN 3 90088446 missense probably benign 0.13
IGL03352:Tpm3 APN 3 90087745 critical splice donor site probably null
P0045:Tpm3 UTSW 3 90091093 critical splice donor site probably null
R0006:Tpm3 UTSW 3 90087661 splice site probably benign
R0006:Tpm3 UTSW 3 90087661 splice site probably benign
R0024:Tpm3 UTSW 3 90087449 splice site probably null
R0086:Tpm3 UTSW 3 90090092 unclassified probably benign
R1487:Tpm3 UTSW 3 90090082 splice site probably null
R5235:Tpm3 UTSW 3 90086495 missense probably damaging 1.00
R6639:Tpm3 UTSW 3 90079802 missense probably damaging 0.99
R7089:Tpm3 UTSW 3 90072722 start gained probably benign
R7212:Tpm3 UTSW 3 90091054 missense probably benign
X0020:Tpm3 UTSW 3 90087574 critical splice donor site probably null
Posted On2016-08-02