Mutagenetix > Incidental Mutation

Incidental Mutation 'R4224:Tnnt1'

319958

Institutional Source

Beutler Lab

Gene Symbol

Tnnt1

Ensembl Gene

ENSMUSG00000064179

Gene Name

troponin T1, skeletal, slow

Synonyms

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

MMRRC Submission

041044-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R4224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4507568-4518974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4513006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 92 (H92R)

Ref Sequence

ENSEMBL: ENSMUSP00000129409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071798] [ENSMUST00000108587] [ENSMUST00000163538] [ENSMUST00000163560] [ENSMUST00000163710] [ENSMUST00000163722] [ENSMUST00000166161] [ENSMUST00000166268] [ENSMUST00000166959] [ENSMUST00000178163]

AlphaFold

O88346

Predicted Effect

probably damaging
Transcript: ENSMUST00000071798
AA Change: H84R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071704
Gene: ENSMUSG00000064179
AA Change: H84R

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 damaging
Transcript: ENSMUST00000108587
AA Change: H85R

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

SMART Domains

Protein: ENSMUSP00000104228
Gene: ENSMUSG00000064179
AA Change: H85R

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 damaging
Transcript: ENSMUST00000163538
AA Change: H84R

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

SMART Domains

Protein: ENSMUSP00000127964
Gene: ENSMUSG00000064179
AA Change: H84R

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 benign
Transcript: ENSMUST00000163560

Predicted Effect

probably damaging
Transcript: ENSMUST00000163710
AA Change: H73R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129626
Gene: ENSMUSG00000064179
AA Change: H73R

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 damaging
Transcript: ENSMUST00000163722
AA Change: H92R

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

SMART Domains

Protein: ENSMUSP00000129409
Gene: ENSMUSG00000064179
AA Change: H92R

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 damaging
Transcript: ENSMUST00000166161
AA Change: H72R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125795
Gene: ENSMUSG00000064179
AA Change: H72R

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 damaging
Transcript: ENSMUST00000166268
AA Change: H74R

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

SMART Domains

Protein: ENSMUSP00000128476
Gene: ENSMUSG00000064179
AA Change: H74R

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 damaging
Transcript: ENSMUST00000166959
AA Change: H85R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129109
Gene: ENSMUSG00000064179
AA Change: H85R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178163
AA Change: H84R

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

SMART Domains

Protein: ENSMUSP00000137198
Gene: ENSMUSG00000064179
AA Change: H84R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168111

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

95% (42/44)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182O14Rik	T	C	15: 40,005,672 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,417 (GRCm39)	T440A	probably damaging	Het
Acat2	T	C	17: 13,181,772 (GRCm39)		probably benign	Het
Acsbg1	C	T	9: 54,523,325 (GRCm39)	R434H	possibly damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Atosa	T	A	9: 74,916,008 (GRCm39)	N209K	probably damaging	Het
Atp6v1a	C	A	16: 43,922,174 (GRCm39)	A355S	probably damaging	Het
Corin	T	C	5: 72,500,451 (GRCm39)	E391G	probably damaging	Het
Dnah11	T	G	12: 118,094,627 (GRCm39)	S814R	probably benign	Het
Fer1l4	A	C	2: 155,862,309 (GRCm39)	V1788G	probably benign	Het
Gm7964	T	G	7: 83,406,030 (GRCm39)	N281K	probably damaging	Het
Grin1	T	C	2: 25,187,332 (GRCm39)		probably benign	Het
Ica1	T	C	6: 8,659,960 (GRCm39)	K112R	probably benign	Het
Itpr3	T	C	17: 27,326,232 (GRCm39)	V1334A	probably damaging	Het
Khdc3	C	G	9: 73,010,153 (GRCm39)	H70D	possibly damaging	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Mettl21a	G	T	1: 64,647,115 (GRCm39)	Y147*	probably null	Het
Mr1	A	T	1: 155,006,465 (GRCm39)	I294N	possibly damaging	Het
Or52z12	A	G	7: 103,233,966 (GRCm39)	T246A	probably damaging	Het
Or7e170	T	A	9: 19,794,896 (GRCm39)	Y235F	probably benign	Het
Pals1	A	G	12: 78,876,492 (GRCm39)	K479E	probably damaging	Het
Pcdhgb7	T	A	18: 37,886,856 (GRCm39)	D675E	probably benign	Het
Polr1has	T	C	17: 37,269,617 (GRCm39)		probably benign	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Rnf213	C	T	11: 119,327,649 (GRCm39)	R1879*	probably null	Het
Slc8a1	A	G	17: 81,956,781 (GRCm39)	F86L	probably damaging	Het
Spdya	G	A	17: 71,869,519 (GRCm39)	V105I	probably benign	Het
Sspo	G	T	6: 48,428,091 (GRCm39)	V313L	possibly damaging	Het
Stard9	A	G	2: 120,495,472 (GRCm39)	T116A	possibly damaging	Het
Trim37	T	A	11: 87,107,289 (GRCm39)	C907S	probably damaging	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Tssk3	T	C	4: 129,384,392 (GRCm39)	D3G	probably benign	Het
Ubash3a	T	C	17: 31,456,902 (GRCm39)	Y521H	probably damaging	Het
Vmn1r73	T	C	7: 11,490,506 (GRCm39)	I108T	probably damaging	Het
Vmn2r14	A	G	5: 109,364,149 (GRCm39)	M589T	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Vps13b	A	G	15: 35,876,565 (GRCm39)	T2799A	probably damaging	Het
Zcchc18	A	T	X: 135,895,415 (GRCm39)	N10I	probably damaging	Het

Other mutations in Tnnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Tnnt1	APN	7	4,510,549 (GRCm39)	missense	possibly damaging	0.96
IGL01391:Tnnt1	APN	7	4,517,211 (GRCm39)	critical splice donor site	probably null
IGL01582:Tnnt1	APN	7	4,512,982 (GRCm39)	missense	probably damaging	1.00
R0098:Tnnt1	UTSW	7	4,512,044 (GRCm39)	missense	probably damaging	0.99
R0963:Tnnt1	UTSW	7	4,510,594 (GRCm39)	missense	probably damaging	1.00
R1489:Tnnt1	UTSW	7	4,510,524 (GRCm39)	nonsense	probably null
R2340:Tnnt1	UTSW	7	4,516,615 (GRCm39)	splice site	probably benign
R4624:Tnnt1	UTSW	7	4,515,267 (GRCm39)	intron	probably benign
R4969:Tnnt1	UTSW	7	4,510,573 (GRCm39)	missense	probably damaging	1.00
R5245:Tnnt1	UTSW	7	4,513,066 (GRCm39)	missense	probably damaging	1.00
R5822:Tnnt1	UTSW	7	4,519,345 (GRCm39)	nonsense	probably null
R6520:Tnnt1	UTSW	7	4,512,060 (GRCm39)	nonsense	probably null
R6556:Tnnt1	UTSW	7	4,512,576 (GRCm39)	missense	probably damaging	1.00
R6573:Tnnt1	UTSW	7	4,517,333 (GRCm39)	splice site	probably null
R6838:Tnnt1	UTSW	7	4,510,406 (GRCm39)	missense	possibly damaging	0.94
R7318:Tnnt1	UTSW	7	4,513,547 (GRCm39)	splice site	probably null
R7889:Tnnt1	UTSW	7	4,511,582 (GRCm39)	missense	probably damaging	1.00
R8405:Tnnt1	UTSW	7	4,510,592 (GRCm39)	missense	probably damaging	0.98
R9217:Tnnt1	UTSW	7	4,513,381 (GRCm39)	missense	probably benign	0.18
R9621:Tnnt1	UTSW	7	4,511,501 (GRCm39)	missense	probably benign	0.08
X0010:Tnnt1	UTSW	7	4,512,970 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGGATACTGGAGTGGACCC -3'
(R):5'- GCTTCCTTCATGAAAACCCTGG -3'

Sequencing Primer
(F):5'- AGTGGACCCGCCCAATGTC -3'
(R):5'- ACCCAGGGTCCTGTTATTAGCAAG -3'

Posted On

2015-06-12