Incidental Mutation 'R0086:Tpm3'
ID 19882
Institutional Source Beutler Lab
Gene Symbol Tpm3
Ensembl Gene ENSMUSG00000027940
Gene Name tropomyosin 3, gamma
Synonyms hTM30nm, Tpm-5, skalphaTM.2, Trop-5, gamma-TM, hTMnm, Tm5NM, Tpm5
MMRRC Submission 038373-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0086 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89979958-90008209 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 89997399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029549] [ENSMUST00000118566] [ENSMUST00000119158] [ENSMUST00000119570] [ENSMUST00000121503] [ENSMUST00000127955] [ENSMUST00000149432]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029549
SMART Domains Protein: ENSMUSP00000029549
Gene: ENSMUSG00000027940

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 4 117 3.9e-22 PFAM
Pfam:Tropomyosin 12 248 7.2e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118566
SMART Domains Protein: ENSMUSP00000113056
Gene: ENSMUSG00000027940

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 3 117 2e-21 PFAM
Pfam:Tropomyosin 12 248 1.7e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119158
SMART Domains Protein: ENSMUSP00000113219
Gene: ENSMUSG00000027940

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 4 117 1.7e-22 PFAM
Pfam:Tropomyosin 12 247 3.9e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119570
SMART Domains Protein: ENSMUSP00000113978
Gene: ENSMUSG00000027940

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 probably benign
Transcript: ENSMUST00000121503
SMART Domains Protein: ENSMUSP00000113578
Gene: ENSMUSG00000027940

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 1.3e-36 PFAM
Pfam:Tropomyosin 48 284 4.7e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143281
Predicted Effect probably benign
Transcript: ENSMUST00000149432
SMART Domains Protein: ENSMUSP00000114229
Gene: ENSMUSG00000027940

DomainStartEndE-ValueType
Pfam:Tropomyosin 1 70 1.6e-28 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
MGI Phenotype 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Capza2 A G 6: 17,660,773 (GRCm39) K158E probably damaging Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cercam T C 2: 29,761,076 (GRCm39) L42P probably damaging Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or4c119 C T 2: 88,986,820 (GRCm39) R233H probably benign Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Plcl1 T A 1: 55,754,742 (GRCm39) W1030R probably damaging Het
Polr2i G A 7: 29,932,511 (GRCm39) V73M probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Scnn1a T C 6: 125,319,550 (GRCm39) probably benign Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Slc22a14 C T 9: 119,051,804 (GRCm39) probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Sp2 C A 11: 96,848,253 (GRCm39) G457C probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably damaging Het
Other mutations in Tpm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Tpm3 APN 3 89,995,024 (GRCm39) missense probably damaging 0.99
IGL00949:Tpm3 APN 3 89,997,165 (GRCm39) missense probably damaging 1.00
IGL01955:Tpm3 APN 3 89,995,742 (GRCm39) missense probably benign 0.00
IGL01970:Tpm3 APN 3 89,997,135 (GRCm39) missense probably damaging 1.00
IGL02605:Tpm3 APN 3 89,995,753 (GRCm39) missense probably benign 0.13
IGL03352:Tpm3 APN 3 89,995,052 (GRCm39) critical splice donor site probably null
IGL03375:Tpm3 APN 3 89,981,079 (GRCm39) missense possibly damaging 0.83
P0045:Tpm3 UTSW 3 89,998,400 (GRCm39) critical splice donor site probably null
R0006:Tpm3 UTSW 3 89,994,968 (GRCm39) splice site probably benign
R0006:Tpm3 UTSW 3 89,994,968 (GRCm39) splice site probably benign
R0024:Tpm3 UTSW 3 89,994,756 (GRCm39) splice site probably null
R1487:Tpm3 UTSW 3 89,997,389 (GRCm39) splice site probably null
R5235:Tpm3 UTSW 3 89,993,802 (GRCm39) missense probably damaging 1.00
R6639:Tpm3 UTSW 3 89,987,109 (GRCm39) missense probably damaging 0.99
R7089:Tpm3 UTSW 3 89,980,029 (GRCm39) start gained probably benign
R7212:Tpm3 UTSW 3 89,998,361 (GRCm39) missense probably benign
R7867:Tpm3 UTSW 3 89,993,775 (GRCm39) missense probably damaging 1.00
R8322:Tpm3 UTSW 3 89,981,011 (GRCm39) intron probably benign
R8701:Tpm3 UTSW 3 89,994,987 (GRCm39) missense possibly damaging 0.68
R9167:Tpm3 UTSW 3 89,994,824 (GRCm39) missense probably benign 0.13
X0020:Tpm3 UTSW 3 89,994,881 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGCTCAAATGGCTTAGAGGCAC -3'
(R):5'- GCACAGCAGTCTTAGTGACTCTCC -3'

Sequencing Primer
(F):5'- TGGCTTAGAGGCACGAGAG -3'
(R):5'- ATCTGTTCAGGCTGCAAGAC -3'
Posted On 2013-04-11