Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00949:Tpm3'

27127

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00949

Quality Score

Status

Chromosome

Chromosomal Location

89979958-90008209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89997165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 234 (E234G)

Ref Sequence

ENSEMBL: ENSMUSP00000113578 (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 damaging
Transcript: ENSMUST00000029549
AA Change: E198G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029549
Gene: ENSMUSG00000027940
AA Change: E198G

Domain	Start	End	E-Value	Type
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: E198G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113056
Gene: ENSMUSG00000027940
AA Change: E198G

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	3	117	2e-21	PFAM
Pfam:Tropomyosin	12	248	1.7e-100	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119158
AA Change: E198G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113219
Gene: ENSMUSG00000027940
AA Change: E198G

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	4	117	1.7e-22	PFAM
Pfam:Tropomyosin	12	247	3.9e-96	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119570
AA Change: E235G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113978
Gene: ENSMUSG00000027940
AA Change: E235G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000121503
AA Change: E234G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113578
Gene: ENSMUSG00000027940
AA Change: E234G

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000149734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147430

Predicted Effect

probably benign
Transcript: ENSMUST00000149432

SMART Domains

Protein: ENSMUSP00000114229
Gene: ENSMUSG00000027940

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin	1	70	1.6e-28	PFAM

Coding Region Coverage

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	A	G	X: 141,126,325 (GRCm39)	C303R	probably damaging	Het
Als2	C	T	1: 59,254,731 (GRCm39)	G209S	probably damaging	Het
Ankrd11	T	C	8: 123,635,467 (GRCm39)	T56A	possibly damaging	Het
Arnt	T	A	3: 95,394,579 (GRCm39)	I381N	probably damaging	Het
Atp13a1	T	C	8: 70,252,653 (GRCm39)		probably benign	Het
Cd180	A	T	13: 102,830,268 (GRCm39)	T21S	possibly damaging	Het
Cdc27	T	C	11: 104,420,229 (GRCm39)	Y138C	probably damaging	Het
Dhx16	A	G	17: 36,198,826 (GRCm39)	T753A	probably benign	Het
Dnah1	A	G	14: 31,029,047 (GRCm39)	M561T	probably benign	Het
Dsc3	C	A	18: 20,118,688 (GRCm39)	G259C	probably null	Het
Enox2	A	T	X: 48,129,484 (GRCm39)	D346E	probably benign	Het
Exoc3l	T	C	8: 106,017,130 (GRCm39)	E619G	probably benign	Het
Exosc9	T	C	3: 36,617,415 (GRCm39)		probably benign	Het
Gmpr2	C	T	14: 55,914,207 (GRCm39)		probably benign	Het
Golga1	T	C	2: 38,931,267 (GRCm39)	E289G	probably damaging	Het
H3c1	G	A	13: 23,946,014 (GRCm39)	T108I	probably damaging	Het
Jmy	A	G	13: 93,590,510 (GRCm39)	V531A	probably damaging	Het
Lamp2	T	C	X: 37,524,350 (GRCm39)	N156S	probably benign	Het
Lrrn1	C	A	6: 107,546,261 (GRCm39)	N686K	probably benign	Het
Lyst	T	C	13: 13,810,070 (GRCm39)	V580A	possibly damaging	Het
Ms4a8a	C	A	19: 11,056,808 (GRCm39)	L91F	probably benign	Het
Naip2	A	G	13: 100,298,099 (GRCm39)	F646L	probably damaging	Het
Npat	T	C	9: 53,474,662 (GRCm39)	V818A	probably benign	Het
Or2w4	A	T	13: 21,795,521 (GRCm39)	I206N	probably damaging	Het
Padi3	C	A	4: 140,516,254 (GRCm39)	R542L	possibly damaging	Het
Pid1	A	G	1: 84,016,227 (GRCm39)	V46A	probably damaging	Het
Pld5	A	T	1: 175,803,039 (GRCm39)	C409S	probably damaging	Het
Plet1	A	G	9: 50,410,523 (GRCm39)	T105A	possibly damaging	Het
Polrmt	T	C	10: 79,573,431 (GRCm39)		probably null	Het
Pp2d1	T	C	17: 53,822,667 (GRCm39)	N133S	probably benign	Het
Prpf40b	G	T	15: 99,204,419 (GRCm39)	V228L	probably benign	Het
Ptgfrn	A	T	3: 100,980,161 (GRCm39)	M393K	probably benign	Het
Slc9a1	C	T	4: 133,143,762 (GRCm39)	T416I	probably benign	Het
Slc9c1	T	C	16: 45,413,721 (GRCm39)	S950P	probably benign	Het
Slitrk1	A	T	14: 109,149,241 (GRCm39)	V490D	probably damaging	Het
Th	T	C	7: 142,450,763 (GRCm39)	Y131C	probably benign	Het
Tlr6	A	G	5: 65,110,855 (GRCm39)	L684P	probably damaging	Het
Tti1	A	G	2: 157,824,319 (GRCm39)	Y1045H	probably benign	Het
Txnl4b	T	A	8: 110,295,707 (GRCm39)	V37D	probably benign	Het
Ufl1	A	T	4: 25,275,822 (GRCm39)	F194I	probably damaging	Het
Usp13	G	A	3: 32,940,726 (GRCm39)	E412K	possibly damaging	Het
Usp46	A	T	5: 74,163,903 (GRCm39)	L251Q	possibly damaging	Het

Other mutations in Tpm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Tpm3	APN	3	89,995,024 (GRCm39)	missense	probably damaging	0.99
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
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

Posted On

2013-04-17