Incidental Mutation 'R1487:Tpm3'
ID 163508
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1487 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89979958-90008209 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 89997389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029549] [ENSMUST00000118566] [ENSMUST00000119158] [ENSMUST00000119570] [ENSMUST00000121503] [ENSMUST00000149432] [ENSMUST00000127955]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
Transcript: ENSMUST00000062193
SMART Domains Protein: ENSMUSP00000062920
Gene: ENSMUSG00000027940

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 1.4e-36 PFAM
Pfam:Tropomyosin 48 284 4.8e-94 PFAM
Predicted Effect probably null
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 null
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 null
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 null
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 noncoding transcript
Transcript: ENSMUST00000143281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131354
Predicted Effect probably benign
Transcript: ENSMUST00000149432
SMART Domains Protein: ENSMUSP00000114229
Gene: ENSMUSG00000027940

DomainStartEndE-ValueType
Pfam:Tropomyosin 1 70 1.6e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127955
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A C 6: 146,854,877 (GRCm39) V55G probably benign Het
Abhd13 A G 8: 10,037,402 (GRCm39) probably benign Het
Arid5b T A 10: 67,933,044 (GRCm39) K953* probably null Het
Armh3 A C 19: 45,928,882 (GRCm39) probably null Het
B4galt6 A G 18: 20,839,571 (GRCm39) V121A possibly damaging Het
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Calu A G 6: 29,366,955 (GRCm39) I208V probably benign Het
Cd14 T C 18: 36,858,537 (GRCm39) N306S probably benign Het
Cdc16 T A 8: 13,821,445 (GRCm39) N415K probably benign Het
Cfap57 C A 4: 118,471,978 (GRCm39) V134F probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Chtf18 T C 17: 25,939,583 (GRCm39) K67R probably benign Het
Clock T C 5: 76,414,201 (GRCm39) probably null Het
Cplane1 C T 15: 8,215,715 (GRCm39) R424W probably damaging Het
Eif4g1 G A 16: 20,497,623 (GRCm39) probably benign Het
Eps8l2 A T 7: 140,941,531 (GRCm39) M601L probably benign Het
Fat4 A G 3: 39,050,066 (GRCm39) E3976G possibly damaging Het
Flrt3 T A 2: 140,502,854 (GRCm39) H258L probably damaging Het
Flt4 C A 11: 49,523,971 (GRCm39) T517K possibly damaging Het
Galnt7 T C 8: 57,993,073 (GRCm39) N416S probably damaging Het
Gipc1 C T 8: 84,387,808 (GRCm39) Q63* probably null Het
Gm17079 A T 14: 51,930,542 (GRCm39) probably null Het
Gucy2c T A 6: 136,725,824 (GRCm39) I375F possibly damaging Het
Hps4 C T 5: 112,525,865 (GRCm39) Q629* probably null Het
Hunk A G 16: 90,183,525 (GRCm39) Y61C probably damaging Het
Itga6 T C 2: 71,673,584 (GRCm39) S873P possibly damaging Het
Kcnc1 A G 7: 46,047,298 (GRCm39) H66R possibly damaging Het
Kcnc1 T C 7: 46,084,772 (GRCm39) probably null Het
Khdc3 A G 9: 73,009,846 (GRCm39) T19A probably benign Het
Kmt2a T C 9: 44,745,287 (GRCm39) probably benign Het
Lipe C T 7: 25,084,240 (GRCm39) A615T possibly damaging Het
Lrguk A T 6: 34,039,295 (GRCm39) M269L probably benign Het
Lrrc18 A G 14: 32,730,640 (GRCm39) N60D probably damaging Het
Magi1 T C 6: 93,685,060 (GRCm39) T773A probably benign Het
Map3k14 T A 11: 103,116,163 (GRCm39) D755V possibly damaging Het
Mecom T C 3: 30,034,213 (GRCm39) T488A probably damaging Het
Mmp10 T G 9: 7,509,978 (GRCm39) W473G probably damaging Het
Mrgpra2a C T 7: 47,076,434 (GRCm39) V275I probably benign Het
Myo7a A C 7: 97,703,017 (GRCm39) probably null Het
Nadsyn1 C T 7: 143,360,662 (GRCm39) V369I probably benign Het
Nptxr C A 15: 79,674,104 (GRCm39) G424V probably damaging Het
Nrg2 C T 18: 36,185,965 (GRCm39) G258E possibly damaging Het
Nup210 G A 6: 91,019,558 (GRCm39) P221S probably damaging Het
Odad2 A T 18: 7,273,245 (GRCm39) Y282N probably damaging Het
Or52a33 T A 7: 103,288,801 (GRCm39) H182L probably damaging Het
Or6c208 T C 10: 129,224,209 (GRCm39) F236L probably benign Het
Oxct1 A G 15: 4,177,057 (GRCm39) D477G possibly damaging Het
Pcdh8 G T 14: 80,006,987 (GRCm39) D525E probably damaging Het
Phldb2 A G 16: 45,609,387 (GRCm39) S740P probably damaging Het
Prss54 A G 8: 96,286,276 (GRCm39) S266P probably benign Het
Ptprh T A 7: 4,555,737 (GRCm39) I741F probably damaging Het
Rab11fip1 G T 8: 27,644,240 (GRCm39) S515Y probably damaging Het
Recql4 T A 15: 76,593,183 (GRCm39) N309I probably benign Het
Sec24a T C 11: 51,622,713 (GRCm39) T388A possibly damaging Het
Setd6 T A 8: 96,444,556 (GRCm39) L83H probably damaging Het
Slc6a12 G A 6: 121,340,716 (GRCm39) W534* probably null Het
St14 C T 9: 31,008,476 (GRCm39) C488Y probably damaging Het
Supt16 A G 14: 52,414,065 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,460 (GRCm39) Y1968C probably damaging Het
Tcaim T A 9: 122,647,897 (GRCm39) Y137* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trip12 A T 1: 84,746,352 (GRCm39) N475K probably damaging Het
Twnk G T 19: 44,996,815 (GRCm39) probably null Het
Zfp287 T C 11: 62,616,115 (GRCm39) K192R probably damaging Het
Zfp799 G T 17: 33,039,651 (GRCm39) T204N possibly 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
R0086:Tpm3 UTSW 3 89,997,399 (GRCm39) unclassified probably benign
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 2014-03-28