Mutagenetix > Incidental Mutations

Incidental Mutation 'R1489:Tnnt1'

163595

Institutional Source

Beutler Lab

Gene Symbol

Tnnt1

Ensembl Gene

ENSMUSG00000064179

Gene Name

troponin T1, skeletal, slow

Synonyms

ssTnT, sTnT, Tnt, skeletal muscle slow-twitch TnT

MMRRC Submission

039541-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R1489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4504570-4516382 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 4507525 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 232 (Y232*)

Ref Sequence

ENSEMBL: ENSMUSP00000137198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071798] [ENSMUST00000108587] [ENSMUST00000163538] [ENSMUST00000163710] [ENSMUST00000163722] [ENSMUST00000166161] [ENSMUST00000166268] [ENSMUST00000166959] [ENSMUST00000178163]

Predicted Effect

probably null
Transcript: ENSMUST00000071798
AA Change: Y232*

SMART Domains

Protein: ENSMUSP00000071704
Gene: ENSMUSG00000064179
AA Change: Y232*

Domain	Start	End	E-Value	Type
low complexity region	5	56	N/A	INTRINSIC
Pfam:Troponin	68	210	7.3e-40	PFAM
low complexity region	246	259	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000086502

Predicted Effect

probably null
Transcript: ENSMUST00000108587
AA Change: Y233*

SMART Domains

Protein: ENSMUSP00000104228
Gene: ENSMUSG00000064179
AA Change: Y233*

Domain	Start	End	E-Value	Type
low complexity region	5	57	N/A	INTRINSIC
Pfam:Troponin	69	205	3e-36	PFAM
Pfam:Troponin	197	260	4.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163538

SMART Domains

Protein: ENSMUSP00000127964
Gene: ENSMUSG00000064179

Domain	Start	End	E-Value	Type
low complexity region	5	56	N/A	INTRINSIC
Pfam:Troponin	68	160	4.4e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000163710
AA Change: Y221*

SMART Domains

Protein: ENSMUSP00000129626
Gene: ENSMUSG00000064179
AA Change: Y221*

Domain	Start	End	E-Value	Type
coiled coil region	2	29	N/A	INTRINSIC
Pfam:Troponin	57	199	1.9e-39	PFAM
low complexity region	235	248	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163722

SMART Domains

Protein: ENSMUSP00000129409
Gene: ENSMUSG00000064179

Domain	Start	End	E-Value	Type
low complexity region	17	64	N/A	INTRINSIC
Pfam:Troponin	76	118	1.9e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166161
AA Change: Y220*

SMART Domains

Protein: ENSMUSP00000125795
Gene: ENSMUSG00000064179
AA Change: Y220*

Domain	Start	End	E-Value	Type
low complexity region	5	46	N/A	INTRINSIC
Pfam:Troponin	56	198	3.4e-40	PFAM
low complexity region	234	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166268

SMART Domains

Protein: ENSMUSP00000128476
Gene: ENSMUSG00000064179

Domain	Start	End	E-Value	Type
coiled coil region	2	28	N/A	INTRINSIC
Pfam:Troponin	58	200	1.6e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166959

SMART Domains

Protein: ENSMUSP00000129109
Gene: ENSMUSG00000064179

Domain	Start	End	E-Value	Type
low complexity region	5	57	N/A	INTRINSIC
Pfam:Troponin	69	192	1.5e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169571

Predicted Effect

probably null
Transcript: ENSMUST00000178163
AA Change: Y232*

SMART Domains

Protein: ENSMUSP00000137198
Gene: ENSMUSG00000064179
AA Change: Y232*

Domain	Start	End	E-Value	Type
low complexity region	5	40	N/A	INTRINSIC
low complexity region	44	55	N/A	INTRINSIC
Pfam:Troponin	68	210	7.3e-40	PFAM
low complexity region	246	259	N/A	INTRINSIC

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: This gene encodes the slow skeletal tropomyosin-binding subunit of the troponin complex and plays an essential role in the regulation of striated muscle contraction. In humans, mutations in this gene are associated with nemaline myopathy type 5. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a null or hypomorphic allele show small and loss of type I slow skeletal muscle fibers with compensatory hypertrophy of type II fast fibers and reduced contractile force and tolerance of skeletal muscle fibers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,059,510	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,505,457	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,686,300		probably null	Het
Adam39	A	G	8: 40,824,994	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,491,451	S629R	probably benign	Het
Ap3b2	C	A	7: 81,463,690	E924*	probably null	Het
Armc3	A	T	2: 19,310,047	Y856F	probably benign	Het
Asap1	A	G	15: 64,172,730	L142P	probably damaging	Het
Atg9a	T	A	1: 75,186,090	D427V	probably damaging	Het
Atl2	G	A	17: 79,852,706	A17V	probably benign	Het
Atxn2l	A	T	7: 126,496,467	S379T	probably damaging	Het
C1ql3	G	T	2: 13,010,642	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,609,635	I114F	probably damaging	Het
Cox16	T	C	12: 81,474,615	N135S	probably null	Het
Dnajc13	A	T	9: 104,231,035	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,725,410	Y73*	probably null	Het
Duox2	T	A	2: 122,293,396	M436L	probably benign	Het
Exoc6	T	A	19: 37,597,120	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,812,817		probably benign	Het
Fmn1	T	A	2: 113,365,212	V419E	unknown	Het
Fndc4	T	C	5: 31,293,451	*232W	probably null	Het
Foxc1	C	T	13: 31,808,612	R469*	probably null	Het
Fsip2	A	G	2: 82,979,811	H2158R	probably benign	Het
Ghdc	C	T	11: 100,768,257	G373D	probably benign	Het
Gm10330	A	T	12: 23,780,031	S50T	probably benign	Het
Gm8251	A	G	1: 44,057,790	F1383L	probably benign	Het
Gm8251	T	C	1: 44,061,507	I144V	probably benign	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,222,954	V650A	probably damaging	Het
Map1a	T	C	2: 121,300,437	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,393,906	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,027,519	K175R	probably benign	Het
Mia3	A	G	1: 183,338,674	S85P	probably benign	Het
Myrip	T	C	9: 120,432,529	F403L	probably damaging	Het
Nox4	A	G	7: 87,304,889	Y134C	probably damaging	Het
Numb	A	G	12: 83,795,443	L642P	probably damaging	Het
Pappa	A	T	4: 65,180,948	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,677,712	L333P	probably benign	Het
Prl	A	T	13: 27,057,636	S3C	probably damaging	Het
Ptprc	T	C	1: 138,120,086	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,637,664		probably benign	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Smpd1	T	C	7: 105,556,554		probably null	Het
Spta1	A	G	1: 174,231,325	E1942G	probably damaging	Het
Tmem38a	A	G	8: 72,579,635	Y66C	probably damaging	Het
Tpte	T	C	8: 22,349,389		probably null	Het
Virma	T	C	4: 11,521,164	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,754,556	Q216*	probably null	Het
Zswim3	T	C	2: 164,819,981	V127A	probably benign	Het

Other mutations in Tnnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Tnnt1	APN	7	4507550	missense	possibly damaging	0.96
IGL01391:Tnnt1	APN	7	4514212	critical splice donor site	probably null
IGL01582:Tnnt1	APN	7	4509983	missense	probably damaging	1.00
R0098:Tnnt1	UTSW	7	4509045	missense	probably damaging	0.99
R0963:Tnnt1	UTSW	7	4507595	missense	probably damaging	1.00
R2340:Tnnt1	UTSW	7	4513616	splice site	probably benign
R4224:Tnnt1	UTSW	7	4510007	missense	probably damaging	1.00
R4624:Tnnt1	UTSW	7	4512268	intron	probably benign
R4969:Tnnt1	UTSW	7	4507574	missense	probably damaging	1.00
R5245:Tnnt1	UTSW	7	4510067	missense	probably damaging	1.00
R5822:Tnnt1	UTSW	7	4516346	nonsense	probably null
R6520:Tnnt1	UTSW	7	4509061	nonsense	probably null
R6556:Tnnt1	UTSW	7	4509577	missense	probably damaging	1.00
R6573:Tnnt1	UTSW	7	4514334	splice site	probably null
R6838:Tnnt1	UTSW	7	4507407	missense	possibly damaging	0.94
X0010:Tnnt1	UTSW	7	4509971	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCACAATTTCTGGGCGTGGCTGATG -3'
(R):5'- ACGCACGCACGCACTATGTAAG -3'

Sequencing Primer
(F):5'- GCGGTTGTAGAGCACATTG -3'
(R):5'- acttgctgcatggcttgg -3'

Posted On

2014-03-28