Incidental Mutation 'R6639:Tpm3'
ID 525640
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 044760-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6639 (G1)
Quality Score 95.0077
Status Validated
Chromosome 3
Chromosomal Location 89979958-90008209 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 89987109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 24 (A24G)
Ref Sequence ENSEMBL: ENSMUSP00000113219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029549] [ENSMUST00000118566] [ENSMUST00000119158] [ENSMUST00000119570] [ENSMUST00000121503] [ENSMUST00000127955] [ENSMUST00000149432]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029549
AA Change: A24G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029549
Gene: ENSMUSG00000027940
AA Change: A24G

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 4 117 3.9e-22 PFAM
Pfam:Tropomyosin 12 248 7.2e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118566
AA Change: A24G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113056
Gene: ENSMUSG00000027940
AA Change: A24G

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 3 117 2e-21 PFAM
Pfam:Tropomyosin 12 248 1.7e-100 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119158
AA Change: A24G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113219
Gene: ENSMUSG00000027940
AA Change: A24G

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: 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 noncoding transcript
Transcript: ENSMUST00000147430
Meta Mutation Damage Score 0.1551 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (34/34)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T G 10: 10,311,700 (GRCm39) I238L possibly damaging Het
Ankrd33b T C 15: 31,297,818 (GRCm39) Y313C probably damaging Het
Capn15 C T 17: 26,179,152 (GRCm39) V940I probably benign Het
Cdh3 G C 8: 107,237,973 (GRCm39) V56L probably benign Het
Cfap20dc A G 14: 8,536,530 (GRCm38) S226P probably benign Het
Cfap57 T C 4: 118,411,909 (GRCm39) E1245G probably benign Het
Depdc7 C T 2: 104,555,098 (GRCm39) D271N probably damaging Het
Dmtn T C 14: 70,854,870 (GRCm39) D10G probably damaging Het
Dusp12 T C 1: 170,708,243 (GRCm39) E158G probably damaging Het
Egf C T 3: 129,530,481 (GRCm39) G227D probably benign Het
Epha1 C A 6: 42,342,869 (GRCm39) E227* probably null Het
Fbxo40 A T 16: 36,790,937 (GRCm39) C58S probably damaging Het
Focad A G 4: 88,196,479 (GRCm39) T611A unknown Het
Fpr-rs4 C T 17: 18,242,394 (GRCm39) Q134* probably null Het
Fsip2 G A 2: 82,813,571 (GRCm39) D3297N possibly damaging Het
Garnl3 T C 2: 32,879,537 (GRCm39) R930G possibly damaging Het
Hdac4 A T 1: 91,898,670 (GRCm39) C695S probably damaging Het
Ier2 G A 8: 85,388,791 (GRCm39) T197M probably benign Het
Ift74 T A 4: 94,552,496 (GRCm39) probably benign Het
Kat6b A G 14: 21,567,562 (GRCm39) D207G possibly damaging Het
Khdrbs2 A T 1: 32,506,943 (GRCm39) R196* probably null Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Nrip1 G A 16: 76,090,883 (GRCm39) Q225* probably null Het
Or14j3 A G 17: 37,900,822 (GRCm39) C141R probably damaging Het
Or1n2 G A 2: 36,797,690 (GRCm39) C244Y probably damaging Het
Pdrg1 T C 2: 152,857,191 (GRCm39) E17G probably damaging Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Rnf17 C T 14: 56,676,200 (GRCm39) P354S probably benign Het
Sh3rf3 T A 10: 58,919,289 (GRCm39) Y469N probably damaging Het
Thoc6 T A 17: 23,889,428 (GRCm39) probably null Het
Tuft1 T C 3: 94,539,930 (GRCm39) M93V probably benign Het
Vmn1r22 T C 6: 57,877,699 (GRCm39) I93V probably benign Het
Zfp383 T C 7: 29,614,152 (GRCm39) S136P probably benign Het
Zfp748 T C 13: 67,691,024 (GRCm39) K79E 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
R0086:Tpm3 UTSW 3 89,997,399 (GRCm39) unclassified probably benign
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
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'- AGTTCCGGTATTTCAGGGCG -3'
(R):5'- AGCACTTAAGTTTCCTCCGC -3'

Sequencing Primer
(F):5'- CGGAGCAGGCGGAAGTAG -3'
(R):5'- TTACCGGGCCATCGTAATCG -3'
Posted On 2018-06-22