Mutagenetix > Incidental Mutation

Incidental Mutation 'R6477:Tnni1'

516821

Institutional Source

Beutler Lab

Gene Symbol

Tnni1

Ensembl Gene

ENSMUSG00000026418

Gene Name

troponin I, skeletal, slow 1

Synonyms

2700018B22Rik, ssTnI

MMRRC Submission

044609-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135709252-135738727 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135733304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 42 (V42A)

Ref Sequence

ENSEMBL: ENSMUSP00000122925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000132795] [ENSMUST00000139986] [ENSMUST00000148201] [ENSMUST00000152075] [ENSMUST00000152208] [ENSMUST00000154463]

AlphaFold

Q9WUZ5

Predicted Effect

unknown
Transcript: ENSMUST00000129217
AA Change: V35A

SMART Domains

Protein: ENSMUSP00000119848
Gene: ENSMUSG00000026418
AA Change: V35A

Domain	Start	End	E-Value	Type
Pfam:Troponin	9	140	2.2e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132795
AA Change: V42A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121122
Gene: ENSMUSG00000026418
AA Change: V42A

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	60	7.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137331

Predicted Effect

probably benign
Transcript: ENSMUST00000139986
AA Change: V26A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123049
Gene: ENSMUSG00000026418
AA Change: V26A

Domain	Start	End	E-Value	Type
Pfam:Troponin	1	130	1.3e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148201
AA Change: V42A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123509
Gene: ENSMUSG00000026418
AA Change: V42A

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	146	8.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152075
AA Change: V42A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121343
Gene: ENSMUSG00000026418
AA Change: V42A

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	146	8.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152208
AA Change: V42A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121966
Gene: ENSMUSG00000026418
AA Change: V42A

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	146	8.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154463
AA Change: V42A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122925
Gene: ENSMUSG00000026418
AA Change: V42A

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	146	1.4e-49	PFAM

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,696 (GRCm39)	D23G	probably benign	Het
Abca14	T	C	7: 119,924,325 (GRCm39)	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,409,494 (GRCm39)	V481M	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,443,230 (GRCm39)	R20*	probably null	Het
Cops7a	A	T	6: 124,937,139 (GRCm39)	V184E	probably damaging	Het
Cpa3	T	C	3: 20,293,739 (GRCm39)	E83G	possibly damaging	Het
Crls1	C	T	2: 132,703,153 (GRCm39)	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,700,791 (GRCm39)	S153R	probably damaging	Het
Ddx54	T	A	5: 120,759,843 (GRCm39)	I410N	probably damaging	Het
Dido1	T	A	2: 180,302,274 (GRCm39)	T1877S	probably benign	Het
Dip2c	A	G	13: 9,673,796 (GRCm39)	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,327,093 (GRCm39)	V681I	probably benign	Het
Dst	A	G	1: 34,247,809 (GRCm39)		probably null	Het
Eya2	A	G	2: 165,605,681 (GRCm39)	T362A	probably benign	Het
Garre1	A	G	7: 33,957,055 (GRCm39)		probably null	Het
Hgs	G	A	11: 120,360,481 (GRCm39)	V60M	probably damaging	Het
Inpp4b	A	G	8: 82,571,343 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kdr	C	A	5: 76,129,501 (GRCm39)	A129S	probably benign	Het
Lhcgr	A	T	17: 89,049,801 (GRCm39)	M575K	probably damaging	Het
Lsamp	G	T	16: 41,988,528 (GRCm39)		probably benign	Het
Mcm5	T	C	8: 75,839,230 (GRCm39)	V161A	probably benign	Het
Mmp14	A	T	14: 54,675,115 (GRCm39)	H249L	probably damaging	Het
Mroh5	A	G	15: 73,662,604 (GRCm39)	S405P	probably damaging	Het
Mroh9	C	A	1: 162,903,873 (GRCm39)	L46F	probably damaging	Het
Mtrr	A	T	13: 68,718,192 (GRCm39)	H357Q	probably damaging	Het
Myrf	G	A	19: 10,206,149 (GRCm39)	P89L	probably benign	Het
Mzb1	C	T	18: 35,781,311 (GRCm39)		probably null	Het
Naip6	A	G	13: 100,452,516 (GRCm39)	S182P	probably damaging	Het
Nmur2	A	T	11: 55,920,417 (GRCm39)	F276Y	probably damaging	Het
Nudt12	G	T	17: 59,318,140 (GRCm39)	S35Y	probably benign	Het
Or51h5	T	A	7: 102,577,585 (GRCm39)	V250E	probably damaging	Het
Or56b1	T	C	7: 104,284,886 (GRCm39)	S2P	probably benign	Het
Or9m1	A	G	2: 87,733,334 (GRCm39)	S229P	probably damaging	Het
Osbpl1a	T	C	18: 12,889,318 (GRCm39)	I541V	probably benign	Het
Parp4	A	G	14: 56,884,694 (GRCm39)	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,801,022 (GRCm39)	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,586,627 (GRCm39)	T930A	probably benign	Het
Pomt1	G	A	2: 32,138,728 (GRCm39)		probably null	Het
Ppp1r14bl	A	T	1: 23,140,861 (GRCm39)	L151Q	probably benign	Het
Pramel6	A	G	2: 87,340,946 (GRCm39)	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,263,235 (GRCm39)	T83A	probably damaging	Het
Rbm27	T	A	18: 42,466,383 (GRCm39)	V915E	probably damaging	Het
Rnf114	T	A	2: 167,345,408 (GRCm39)	D10E	probably benign	Het
Sbk1	A	G	7: 125,890,350 (GRCm39)	E121G	probably damaging	Het
Senp6	A	T	9: 80,000,907 (GRCm39)	R39*	probably null	Het
Sergef	A	T	7: 46,283,250 (GRCm39)	I94N	probably benign	Het
Slc30a9	C	T	5: 67,485,867 (GRCm39)	R183W	probably benign	Het
Smurf1	C	T	5: 144,826,602 (GRCm39)	R414H	possibly damaging	Het
Sptb	A	T	12: 76,653,166 (GRCm39)	W1566R	probably damaging	Het
Tenm2	T	C	11: 35,901,334 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,938,513 (GRCm39)	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,325,400 (GRCm39)	F46L	probably benign	Het
Ubqln5	G	A	7: 103,777,465 (GRCm39)	S453F	probably damaging	Het
Ubr3	A	T	2: 69,809,773 (GRCm39)	R1248*	probably null	Het
Utp20	A	G	10: 88,604,780 (GRCm39)	V1705A	probably benign	Het
Zfp60	G	A	7: 27,449,228 (GRCm39)	R632H	probably benign	Het
Zfp638	A	G	6: 83,942,560 (GRCm39)	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,629,029 (GRCm39)	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,545,960 (GRCm39)	K1355T	probably benign	Het

Other mutations in Tnni1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Tnni1	APN	1	135,733,234 (GRCm39)	splice site	probably null
R1758:Tnni1	UTSW	1	135,736,420 (GRCm39)	missense	probably damaging	1.00
R2035:Tnni1	UTSW	1	135,733,330 (GRCm39)	missense	probably benign	0.00
R3548:Tnni1	UTSW	1	135,732,791 (GRCm39)	critical splice acceptor site	probably null
R5352:Tnni1	UTSW	1	135,733,330 (GRCm39)	missense	probably benign	0.00
R7434:Tnni1	UTSW	1	135,735,260 (GRCm39)	missense
X0018:Tnni1	UTSW	1	135,736,458 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TAAACAAGCTTTGGTGGCAGC -3'
(R):5'- ACTTCCTGTGCAGTTGTGAG -3'

Sequencing Primer
(F):5'- TGCCACACTGAGCAATGG -3'
(R):5'- CCTGTGCAGTTGTGAGACTGG -3'

Posted On

2018-05-21