Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02247:Tnnt3'

286252

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnnt3

Ensembl Gene

ENSMUSG00000061723

Gene Name

troponin T3, skeletal, fast

Synonyms

skeletal muscle fast-twitch TnT, fTnT

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02247

Quality Score

Status

Chromosome

Chromosomal Location

142052573-142069746 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 142062062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074187] [ENSMUST00000078497] [ENSMUST00000105941] [ENSMUST00000105942] [ENSMUST00000105943] [ENSMUST00000105944] [ENSMUST00000105952] [ENSMUST00000105953] [ENSMUST00000128294] [ENSMUST00000105946] [ENSMUST00000105949] [ENSMUST00000105958] [ENSMUST00000105947] [ENSMUST00000105945] [ENSMUST00000105948] [ENSMUST00000105954] [ENSMUST00000105955] [ENSMUST00000105957] [ENSMUST00000105950] [ENSMUST00000179658] [ENSMUST00000169299] [ENSMUST00000146804] [ENSMUST00000180152]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000054910

SMART Domains

Protein: ENSMUSP00000061994
Gene: ENSMUSG00000043795

Domain	Start	End	E-Value	Type
Pfam:DUF4643	6	259	1.3e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074187

SMART Domains

Protein: ENSMUSP00000073815
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Troponin	52	194	1.5e-42	PFAM
low complexity region	233	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078497

SMART Domains

Protein: ENSMUSP00000077587
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	48	N/A	INTRINSIC
Pfam:Troponin	72	214	2.1e-42	PFAM
low complexity region	253	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105941

SMART Domains

Protein: ENSMUSP00000101561
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Troponin	52	194	2.1e-42	PFAM
low complexity region	229	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105942

SMART Domains

Protein: ENSMUSP00000101562
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:Troponin	43	185	1.7e-42	PFAM
low complexity region	224	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105943

SMART Domains

Protein: ENSMUSP00000101563
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:Troponin	43	185	1.9e-42	PFAM
low complexity region	220	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105944

SMART Domains

Protein: ENSMUSP00000101564
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
Pfam:Troponin	54	196	2e-42	PFAM
low complexity region	235	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105952

SMART Domains

Protein: ENSMUSP00000101572
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	63	205	1.8e-42	PFAM
low complexity region	244	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105953

SMART Domains

Protein: ENSMUSP00000101573
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	3	42	N/A	INTRINSIC
Pfam:Troponin	66	208	1.9e-42	PFAM
low complexity region	247	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128294

SMART Domains

Protein: ENSMUSP00000116223
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
Pfam:Troponin	49	107	3.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105946

SMART Domains

Protein: ENSMUSP00000101566
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	58	200	1.8e-42	PFAM
low complexity region	235	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105949

SMART Domains

Protein: ENSMUSP00000101569
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:Troponin	48	190	1.8e-42	PFAM
low complexity region	229	241	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105958

SMART Domains

Protein: ENSMUSP00000101578
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	76	218	2.1e-42	PFAM
low complexity region	253	269	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125649

Predicted Effect

probably benign
Transcript: ENSMUST00000105947

SMART Domains

Protein: ENSMUSP00000101567
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	63	205	1.9e-42	PFAM
low complexity region	240	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105945

SMART Domains

Protein: ENSMUSP00000101565
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Troponin	52	194	1.5e-42	PFAM
low complexity region	233	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105948

SMART Domains

Protein: ENSMUSP00000101568
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
Pfam:Troponin	54	196	2.2e-42	PFAM
low complexity region	231	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105954

SMART Domains

Protein: ENSMUSP00000101574
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
Pfam:Troponin	67	209	1.9e-42	PFAM
low complexity region	248	260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105955

SMART Domains

Protein: ENSMUSP00000101575
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	36	N/A	INTRINSIC
Pfam:Troponin	59	201	2.2e-42	PFAM
low complexity region	240	252	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105957

SMART Domains

Protein: ENSMUSP00000101577
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	4	36	N/A	INTRINSIC
Pfam:Troponin	63	205	1.8e-42	PFAM
low complexity region	244	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105950

SMART Domains

Protein: ENSMUSP00000101570
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	3	42	N/A	INTRINSIC
Pfam:Troponin	66	208	1.9e-42	PFAM
internal_repeat_1	213	240	4.67e-5	PROSPERO
low complexity region	247	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179658

SMART Domains

Protein: ENSMUSP00000136278
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	76	212	1.5e-36	PFAM
low complexity region	257	269	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169299

SMART Domains

Protein: ENSMUSP00000127854
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	58	200	1.8e-42	PFAM
low complexity region	235	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146804

SMART Domains

Protein: ENSMUSP00000116087
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
Pfam:Troponin	49	191	1.4e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151580

Predicted Effect

probably benign
Transcript: ENSMUST00000180152

SMART Domains

Protein: ENSMUSP00000137111
Gene: ENSMUSG00000061723

Domain	Start	End	E-Value	Type
coiled coil region	1	28	N/A	INTRINSIC
Pfam:Troponin	76	218	5.1e-42	PFAM
internal_repeat_1	223	250	2.76e-5	PROSPERO
low complexity region	257	269	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, liver and kidney hemorrhage and thin diaphragm. Mice heterozygous for this allele exhibit growth retardation with mild skeleton defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,974,905 (GRCm39)	R177G	probably damaging	Het
Ap3b1	T	C	13: 94,531,303 (GRCm39)		probably null	Het
Ascc3	A	C	10: 50,526,686 (GRCm39)	K595T	probably damaging	Het
Cnpy4	A	G	5: 138,191,125 (GRCm39)	T234A	probably benign	Het
Col13a1	T	C	10: 61,797,124 (GRCm39)	Y101C	probably damaging	Het
Crybg3	A	G	16: 59,323,513 (GRCm39)	I2809T	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dgkz	T	C	2: 91,767,805 (GRCm39)	S824G	probably benign	Het
Dsg1c	T	A	18: 20,397,373 (GRCm39)	I27N	probably damaging	Het
Efhb	C	T	17: 53,708,652 (GRCm39)	V673I	probably benign	Het
Egr1	T	C	18: 34,995,916 (GRCm39)	Y233H	possibly damaging	Het
Fam184a	T	C	10: 53,551,256 (GRCm39)	E237G	probably damaging	Het
Galt	A	G	4: 41,755,623 (GRCm39)		probably benign	Het
Gm4795	T	C	10: 44,883,211 (GRCm39)		noncoding transcript	Het
Gm6563	G	A	19: 23,653,392 (GRCm39)	E61K	possibly damaging	Het
Igkv1-133	G	A	6: 67,702,590 (GRCm39)	V103M	probably damaging	Het
Iqcb1	T	A	16: 36,660,258 (GRCm39)	H140Q	probably benign	Het
Itpk1	G	T	12: 102,589,668 (GRCm39)	P74Q	probably damaging	Het
Itpr3	T	A	17: 27,317,153 (GRCm39)	W803R	probably damaging	Het
Lgr4	A	T	2: 109,832,846 (GRCm39)	D312V	probably benign	Het
Lgr4	C	T	2: 109,838,420 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mllt6	C	A	11: 97,561,158 (GRCm39)	A282E	probably benign	Het
Mtif2	T	C	11: 29,490,642 (GRCm39)	S449P	possibly damaging	Het
Nrg3	T	C	14: 38,093,269 (GRCm39)	I533M	probably damaging	Het
Nynrin	C	T	14: 56,109,167 (GRCm39)	Q1425*	probably null	Het
Or12e13	A	G	2: 87,663,873 (GRCm39)	I163M	probably damaging	Het
Or1e1f	A	T	11: 73,855,688 (GRCm39)	M85L	probably benign	Het
Or4n4b	T	A	14: 50,536,571 (GRCm39)	N65I	probably damaging	Het
Or4p22	C	T	2: 88,317,771 (GRCm39)	H232Y	probably benign	Het
Or56a3	T	A	7: 104,735,530 (GRCm39)	Y202*	probably null	Het
Or5b3	T	A	19: 13,388,831 (GRCm39)	S299R	probably benign	Het
Or7e175	G	A	9: 20,048,516 (GRCm39)	V35I	probably benign	Het
Plcb4	C	T	2: 135,836,245 (GRCm39)	T20I	possibly damaging	Het
Ppp1r12b	G	T	1: 134,763,721 (GRCm39)	T771K	probably benign	Het
Prss22	T	C	17: 24,215,363 (GRCm39)	T138A	probably benign	Het
Ros1	A	T	10: 52,005,677 (GRCm39)	S907T	probably damaging	Het
Rtel1	T	A	2: 180,993,134 (GRCm39)	Y521*	probably null	Het
Sacs	T	C	14: 61,429,984 (GRCm39)	F678S	probably damaging	Het
Smtnl1	A	T	2: 84,647,372 (GRCm39)		probably benign	Het
Sumf2	T	C	5: 129,888,986 (GRCm39)	V258A	probably damaging	Het
Tas1r2	A	T	4: 139,396,827 (GRCm39)	Y722F	probably damaging	Het
Tecpr1	A	G	5: 144,143,372 (GRCm39)	F668L	possibly damaging	Het
Timd4	T	C	11: 46,706,558 (GRCm39)	F120S	probably damaging	Het
Trp53bp1	G	A	2: 121,067,070 (GRCm39)	S552F	probably damaging	Het
Txlnb	G	A	10: 17,706,090 (GRCm39)	R333Q	possibly damaging	Het
Txlnb	A	G	10: 17,717,276 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,324,910 (GRCm39)	E461G	probably benign	Het
Vps45	G	A	3: 95,950,236 (GRCm39)	T231I	probably damaging	Het
Zfp648	T	A	1: 154,079,923 (GRCm39)	S27R	probably benign	Het

Other mutations in Tnnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02376:Tnnt3	APN	7	142,066,295 (GRCm39)	missense	possibly damaging	0.64
R0432:Tnnt3	UTSW	7	142,065,823 (GRCm39)	missense	probably benign	0.09
R0463:Tnnt3	UTSW	7	142,066,072 (GRCm39)	missense	probably benign	0.25
R1421:Tnnt3	UTSW	7	142,065,103 (GRCm39)	missense	probably damaging	0.97
R1521:Tnnt3	UTSW	7	142,069,562 (GRCm39)	nonsense	probably null
R1789:Tnnt3	UTSW	7	142,066,101 (GRCm39)	missense	probably damaging	1.00
R1990:Tnnt3	UTSW	7	142,065,262 (GRCm39)	missense	possibly damaging	0.78
R1991:Tnnt3	UTSW	7	142,065,262 (GRCm39)	missense	possibly damaging	0.78
R2029:Tnnt3	UTSW	7	142,066,364 (GRCm39)	splice site	probably benign
R2216:Tnnt3	UTSW	7	142,066,301 (GRCm39)	missense	probably benign	0.03
R4779:Tnnt3	UTSW	7	142,068,020 (GRCm39)	intron	probably benign
R5568:Tnnt3	UTSW	7	142,065,777 (GRCm39)	missense	probably damaging	0.98
R5756:Tnnt3	UTSW	7	142,056,495 (GRCm39)	critical splice donor site	probably null
R5994:Tnnt3	UTSW	7	142,065,003 (GRCm39)	missense	probably damaging	1.00
R6265:Tnnt3	UTSW	7	142,055,382 (GRCm39)	missense	probably damaging	0.98
R7658:Tnnt3	UTSW	7	142,065,833 (GRCm39)	nonsense	probably null
R8280:Tnnt3	UTSW	7	142,055,359 (GRCm39)	missense	unknown
R9074:Tnnt3	UTSW	7	142,065,823 (GRCm39)	missense	probably benign	0.05

Posted On

2015-04-16