Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00858:Tnnt2'

14534

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnnt2

Ensembl Gene

ENSMUSG00000026414

Gene Name

troponin T2, cardiac

Synonyms

cardiac TnT, cTnT, Tnt

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00858

Quality Score

Status

Chromosome

Chromosomal Location

135764092-135779998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135779440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 277 (V277I)

Ref Sequence

ENSEMBL: ENSMUSP00000140941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027671] [ENSMUST00000112085] [ENSMUST00000112086] [ENSMUST00000112087] [ENSMUST00000178204] [ENSMUST00000178854] [ENSMUST00000179863] [ENSMUST00000188028] [ENSMUST00000189355] [ENSMUST00000189732] [ENSMUST00000189826] [ENSMUST00000190451]

AlphaFold

P50752

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027671
AA Change: V266I

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027671
Gene: ENSMUSG00000026414
AA Change: V266I

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC
Pfam:Troponin	96	234	1e-33	PFAM
Pfam:Troponin	226	289	1.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112085
AA Change: V270I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107715
Gene: ENSMUSG00000026414
AA Change: V270I

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
low complexity region	20	54	N/A	INTRINSIC
Pfam:Troponin	100	238	2.4e-33	PFAM
Pfam:Troponin	230	293	2.7e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112086
AA Change: V276I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107716
Gene: ENSMUSG00000026414
AA Change: V276I

Domain	Start	End	E-Value	Type
low complexity region	3	58	N/A	INTRINSIC
Pfam:Troponin	106	244	2.5e-33	PFAM
Pfam:Troponin	236	299	2.8e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112087
AA Change: V276I

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107717
Gene: ENSMUSG00000026414
AA Change: V276I

Domain	Start	End	E-Value	Type
coiled coil region	1	37	N/A	INTRINSIC
Pfam:Troponin	106	250	1.1e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178204
AA Change: V277I

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

SMART Domains

Protein: ENSMUSP00000137579
Gene: ENSMUSG00000026414
AA Change: V277I

Domain	Start	End	E-Value	Type
coiled coil region	1	38	N/A	INTRINSIC
Pfam:Troponin	110	245	3.8e-34	PFAM
Pfam:Troponin	238	300	4.3e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178854
AA Change: V270I

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136265
Gene: ENSMUSG00000026414
AA Change: V270I

Domain	Start	End	E-Value	Type
coiled coil region	1	35	N/A	INTRINSIC
Pfam:Troponin	100	244	1.7e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179863
AA Change: V277I

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

SMART Domains

Protein: ENSMUSP00000137093
Gene: ENSMUSG00000026414
AA Change: V277I

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
Pfam:Troponin	110	251	3e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188028
AA Change: V277I

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

SMART Domains

Protein: ENSMUSP00000140941
Gene: ENSMUSG00000026414
AA Change: V277I

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
Pfam:Troponin	110	251	3e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189355
AA Change: V266I

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139919
Gene: ENSMUSG00000026414
AA Change: V266I

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC
Pfam:Troponin	96	240	1.6e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189732
AA Change: V270I

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139669
Gene: ENSMUSG00000026414
AA Change: V270I

Domain	Start	End	E-Value	Type
coiled coil region	1	35	N/A	INTRINSIC
Pfam:Troponin	100	244	1.7e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188098

Predicted Effect

probably benign
Transcript: ENSMUST00000189826

SMART Domains

Protein: ENSMUSP00000140807
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
Pfam:Troponin	110	201	1.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190451

SMART Domains

Protein: ENSMUSP00000140282
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC
PDB:2Z5H\|T	85	114	3e-7	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during and prior to organogenesis and abnormal heart development. Mice homozygous for an allele that lacks the lysine residue at position 210 exhibit dilated cardiomyopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,967,537 (GRCm39)	V988M	probably damaging	Het
Afap1l1	G	A	18: 61,869,925 (GRCm39)	T635M	probably benign	Het
B4galnt1	A	G	10: 127,003,633 (GRCm39)	T199A	probably benign	Het
Ccdc183	T	A	2: 25,499,783 (GRCm39)	M378L	probably benign	Het
Ccser1	C	A	6: 61,787,649 (GRCm39)	S134*	probably null	Het
Cluh	A	G	11: 74,550,431 (GRCm39)	K248E	possibly damaging	Het
Cpa6	T	A	1: 10,554,219 (GRCm39)	R129S	probably damaging	Het
Cyp2c29	T	A	19: 39,296,100 (GRCm39)	V138D	probably damaging	Het
Cyp4f14	A	G	17: 33,130,692 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,545,720 (GRCm39)	N841S	possibly damaging	Het
Dtwd2	A	T	18: 49,861,452 (GRCm39)	I98N	probably damaging	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Ifi44	T	A	3: 151,455,217 (GRCm39)	M3L	probably benign	Het
Mtch1	C	T	17: 29,559,430 (GRCm39)	D74N	probably damaging	Het
Nav3	A	G	10: 109,578,493 (GRCm39)	V1588A	probably damaging	Het
Pbk	T	C	14: 66,049,373 (GRCm39)		probably benign	Het
Ptcd1	A	T	5: 145,088,092 (GRCm39)		probably benign	Het
Rapgef4	A	T	2: 72,029,241 (GRCm39)	I438F	probably damaging	Het
Tas2r113	C	A	6: 132,870,115 (GRCm39)	R48S	probably benign	Het
Tektl1	T	C	10: 78,586,403 (GRCm39)	D216G	probably damaging	Het
Tnn	C	T	1: 159,915,962 (GRCm39)		probably null	Het
Twnk	G	T	19: 44,996,065 (GRCm39)	W166L	probably benign	Het
Utp20	G	A	10: 88,644,987 (GRCm39)	L580F	possibly damaging	Het
Utp20	T	A	10: 88,645,000 (GRCm39)	E575D	probably benign	Het

Other mutations in Tnnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Tnnt2	APN	1	135,774,502 (GRCm39)	splice site	probably benign
IGL02223:Tnnt2	APN	1	135,769,753 (GRCm39)	intron	probably benign
IGL03094:Tnnt2	APN	1	135,777,200 (GRCm39)	critical splice donor site	probably null
R0827:Tnnt2	UTSW	1	135,771,534 (GRCm39)	intron	probably benign
R1469:Tnnt2	UTSW	1	135,779,793 (GRCm39)	missense	possibly damaging	0.83
R1469:Tnnt2	UTSW	1	135,779,793 (GRCm39)	missense	possibly damaging	0.83
R1478:Tnnt2	UTSW	1	135,775,764 (GRCm39)	missense	probably benign	0.40
R1728:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1729:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1730:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1739:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1762:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1783:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1784:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1785:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1891:Tnnt2	UTSW	1	135,768,597 (GRCm39)	critical splice acceptor site	probably null
R2049:Tnnt2	UTSW	1	135,774,499 (GRCm39)	splice site	probably benign
R2104:Tnnt2	UTSW	1	135,771,547 (GRCm39)	intron	probably benign
R2130:Tnnt2	UTSW	1	135,774,499 (GRCm39)	splice site	probably benign
R2141:Tnnt2	UTSW	1	135,774,499 (GRCm39)	splice site	probably benign
R2225:Tnnt2	UTSW	1	135,771,529 (GRCm39)	intron	probably benign
R2227:Tnnt2	UTSW	1	135,771,529 (GRCm39)	intron	probably benign
R2504:Tnnt2	UTSW	1	135,779,803 (GRCm39)	missense	probably damaging	0.96
R4883:Tnnt2	UTSW	1	135,775,496 (GRCm39)	nonsense	probably null
R5963:Tnnt2	UTSW	1	135,771,600 (GRCm39)	intron	probably benign
R6082:Tnnt2	UTSW	1	135,777,172 (GRCm39)	missense	probably benign	0.30
R6261:Tnnt2	UTSW	1	135,778,292 (GRCm39)	splice site	probably null
R7208:Tnnt2	UTSW	1	135,778,114 (GRCm39)	splice site	probably null
R7241:Tnnt2	UTSW	1	135,779,444 (GRCm39)	missense	probably damaging	1.00
R9038:Tnnt2	UTSW	1	135,774,484 (GRCm39)	missense	possibly damaging	0.78
R9140:Tnnt2	UTSW	1	135,768,635 (GRCm39)	missense
R9515:Tnnt2	UTSW	1	135,768,640 (GRCm39)	missense	unknown
R9530:Tnnt2	UTSW	1	135,779,793 (GRCm39)	missense	possibly damaging	0.83

Posted On

2012-12-06