Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02605:Tpm3'

300226

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 #

IGL02605

Quality Score

Status

Chromosome

Chromosomal Location

89979958-90008209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89995753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 204 (N204K)

Ref Sequence

ENSEMBL: ENSMUSP00000113978 (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
AA Change: N167K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029549
Gene: ENSMUSG00000027940
AA Change: N167K

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 benign
Transcript: ENSMUST00000118566

SMART Domains

Protein: ENSMUSP00000113056
Gene: ENSMUSG00000027940

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 benign
Transcript: ENSMUST00000119158

SMART Domains

Protein: ENSMUSP00000113219
Gene: ENSMUSG00000027940

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 benign
Transcript: ENSMUST00000119570
AA Change: N204K

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113978
Gene: ENSMUSG00000027940
AA Change: N204K

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 benign
Transcript: ENSMUST00000121503

SMART Domains

Protein: ENSMUSP00000113578
Gene: ENSMUSG00000027940

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: ENSMUST00000136125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151798

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,547,602 (GRCm39)	Y992F	probably benign	Het
Adgrg6	T	A	10: 14,342,976 (GRCm39)	N324Y	probably damaging	Het
Ampd3	T	C	7: 110,394,965 (GRCm39)	F305L	probably benign	Het
Ankrd35	A	G	3: 96,588,388 (GRCm39)		probably null	Het
Api5	A	G	2: 94,260,064 (GRCm39)	I64T	possibly damaging	Het
Arhgap21	A	G	2: 20,860,399 (GRCm39)	I1165T	probably damaging	Het
Bdp1	T	C	13: 100,214,623 (GRCm39)		probably null	Het
Capn3	T	A	2: 120,326,518 (GRCm39)	I570N	probably damaging	Het
Catsperg2	T	C	7: 29,418,990 (GRCm39)	H232R	possibly damaging	Het
Clcn7	T	C	17: 25,365,792 (GRCm39)	L156P	possibly damaging	Het
Cpa3	C	A	3: 20,276,376 (GRCm39)	V286F	probably benign	Het
Csrnp3	G	A	2: 65,853,153 (GRCm39)	C527Y	probably damaging	Het
Dock5	A	T	14: 68,065,887 (GRCm39)	V372E	probably benign	Het
Elmo1	T	C	13: 20,789,372 (GRCm39)	L696P	probably damaging	Het
Fam91a1	T	C	15: 58,303,045 (GRCm39)		probably benign	Het
Gm12695	T	A	4: 96,650,988 (GRCm39)	D155V	probably null	Het
Hspa4l	A	G	3: 40,736,055 (GRCm39)	I559V	probably benign	Het
Kdm1a	G	T	4: 136,278,348 (GRCm39)		probably benign	Het
Lrrc8d	A	T	5: 105,974,683 (GRCm39)		noncoding transcript	Het
Minpp1	A	T	19: 32,475,815 (GRCm39)	Y316F	possibly damaging	Het
Neto2	T	C	8: 86,390,064 (GRCm39)		probably benign	Het
Nrxn2	T	A	19: 6,500,610 (GRCm39)	D277E	probably benign	Het
Ola1	A	G	2: 72,972,644 (GRCm39)		probably benign	Het
Or4k48	A	G	2: 111,475,850 (GRCm39)	V164A	probably benign	Het
Or51r1	T	C	7: 102,228,602 (GRCm39)	I300T	probably damaging	Het
Or8c15	T	A	9: 38,120,532 (GRCm39)	M61K	probably damaging	Het
Pam	A	G	1: 97,768,064 (GRCm39)	V722A	possibly damaging	Het
Pfdn6	T	C	17: 34,158,077 (GRCm39)	Y90C	probably benign	Het
Pkhd1	T	A	1: 20,621,126 (GRCm39)	H844L	possibly damaging	Het
Plk5	G	A	10: 80,198,896 (GRCm39)	V422M	probably damaging	Het
Psmc1	G	T	12: 100,085,386 (GRCm39)	R249L	probably damaging	Het
Ptpro	C	T	6: 137,357,316 (GRCm39)	P269L	probably benign	Het
Ralgapa1	G	T	12: 55,759,450 (GRCm39)	H1480Q	possibly damaging	Het
Rars1	G	A	11: 35,715,353 (GRCm39)		probably benign	Het
Rbm48	G	A	5: 3,640,600 (GRCm39)	R260C	possibly damaging	Het
Smarcc1	C	T	9: 110,051,068 (GRCm39)	H963Y	possibly damaging	Het
Spef2	T	C	15: 9,725,238 (GRCm39)	E230G	probably damaging	Het
Spg11	A	G	2: 121,922,741 (GRCm39)	S903P	probably benign	Het
Tas2r122	T	C	6: 132,688,572 (GRCm39)	Y107C	probably damaging	Het
Wdr36	T	C	18: 32,985,044 (GRCm39)	I450T	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
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
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

2015-04-16