Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01970:Tpm3'

182540

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 #

IGL01970

Quality Score

Status

Chromosome

Chromosomal Location

89979958-90008209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89997135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 224 (E224G)

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

possibly damaging
Transcript: ENSMUST00000029549
AA Change: E188G

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029549
Gene: ENSMUSG00000027940
AA Change: E188G

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: E188G

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

SMART Domains

Protein: ENSMUSP00000113056
Gene: ENSMUSG00000027940
AA Change: E188G

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: E188G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113219
Gene: ENSMUSG00000027940
AA Change: E188G

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: E225G

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

SMART Domains

Protein: ENSMUSP00000113978
Gene: ENSMUSG00000027940
AA Change: E225G

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: E224G

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

SMART Domains

Protein: ENSMUSP00000113578
Gene: ENSMUSG00000027940
AA Change: E224G

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: ENSMUST00000133281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149734

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdk9	T	C	2: 32,598,063 (GRCm39)	H280R	possibly damaging	Het
Cenpt	C	T	8: 106,571,748 (GRCm39)	R461H	probably damaging	Het
Cpa4	A	G	6: 30,579,645 (GRCm39)	T151A	probably benign	Het
Glrb	A	G	3: 80,769,232 (GRCm39)	I165T	possibly damaging	Het
Gm17305	A	T	11: 69,255,646 (GRCm39)		probably benign	Het
Kdm5b	T	A	1: 134,528,465 (GRCm39)	S391T	probably damaging	Het
Klrg2	T	C	6: 38,613,383 (GRCm39)	K207E	probably damaging	Het
Krt1	T	C	15: 101,755,299 (GRCm39)	I487V	possibly damaging	Het
Krt27	A	G	11: 99,239,547 (GRCm39)	L311P	probably damaging	Het
Leng9	T	C	7: 4,151,326 (GRCm39)	Y450C	probably damaging	Het
Oacyl	A	T	18: 65,882,785 (GRCm39)	I627F	possibly damaging	Het
Perm1	G	T	4: 156,302,118 (GRCm39)	G221W	probably damaging	Het
Rft1	C	T	14: 30,412,492 (GRCm39)	L518F	probably benign	Het
Sdk1	A	T	5: 142,071,437 (GRCm39)	Q1209L	possibly damaging	Het
Selenbp1	A	G	3: 94,844,313 (GRCm39)	S57G	probably benign	Het
Sema5a	T	C	15: 32,686,792 (GRCm39)	M968T	probably benign	Het
Slc16a3	G	A	11: 120,847,864 (GRCm39)	V351M	probably damaging	Het
Sorbs2	G	A	8: 46,198,840 (GRCm39)	V73I	probably damaging	Het
Specc1l	T	A	10: 75,081,595 (GRCm39)	D347E	probably damaging	Het
Tas2r116	A	C	6: 132,832,632 (GRCm39)	T78P	probably benign	Het
Trnau1ap	T	C	4: 132,041,298 (GRCm39)		probably benign	Het
Vmn2r17	T	A	5: 109,575,813 (GRCm39)	M228K	probably damaging	Het
Vnn1	T	C	10: 23,773,300 (GRCm39)	I109T	probably benign	Het
Wee1	C	A	7: 109,738,457 (GRCm39)	H523Q	probably damaging	Het
Xpr1	T	C	1: 155,165,980 (GRCm39)	N524S	probably benign	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
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
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

2014-05-07