Mutagenetix > Incidental Mutation

Incidental Mutation 'R6973:Tnni3'

543711

Institutional Source

Beutler Lab

Gene Symbol

Tnni3

Ensembl Gene

ENSMUSG00000035458

Gene Name

troponin I, cardiac 3

Synonyms

Tn1, cardiac troponin I, cTnI

MMRRC Submission

045083-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4521304-4526228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4521416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 196 (I196T)

Ref Sequence

ENSEMBL: ENSMUSP00000096458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071798] [ENSMUST00000094897] [ENSMUST00000098859] [ENSMUST00000108587] [ENSMUST00000140424] [ENSMUST00000154913] [ENSMUST00000163538] [ENSMUST00000163560] [ENSMUST00000163710] [ENSMUST00000163722] [ENSMUST00000166161] [ENSMUST00000166268] [ENSMUST00000166959] [ENSMUST00000178163] [ENSMUST00000209148]

AlphaFold

P48787

PDB Structure

Solution structure of the bisphosphorylated cardiac specific N-extension of cardiac troponin I [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000071798

SMART Domains

Protein: ENSMUSP00000071704
Gene: ENSMUSG00000064179

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

probably benign
Transcript: ENSMUST00000094897

SMART Domains

Protein: ENSMUSP00000092498
Gene: ENSMUSG00000055809

Domain	Start	End	E-Value	Type
Pfam:DUF4470	16	122	1.3e-27	PFAM
Pfam:DUF4471	154	436	5.3e-104	PFAM
internal_repeat_1	467	512	1.63e-5	PROSPERO
internal_repeat_1	525	568	1.63e-5	PROSPERO

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098859
AA Change: I196T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096458
Gene: ENSMUSG00000035458
AA Change: I196T

Domain	Start	End	E-Value	Type
Pfam:Troponin-I_N	1	32	1e-10	PFAM
Pfam:Troponin	47	178	3.6e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108587

SMART Domains

Protein: ENSMUSP00000104228
Gene: ENSMUSG00000064179

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: ENSMUST00000140424

SMART Domains

Protein: ENSMUSP00000115015
Gene: ENSMUSG00000035458

Domain	Start	End	E-Value	Type
Pfam:Troponin-I_N	1	32	1.1e-14	PFAM
Pfam:Troponin	47	125	3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154913

SMART Domains

Protein: ENSMUSP00000122916
Gene: ENSMUSG00000035458

Domain	Start	End	E-Value	Type
Pfam:Troponin-I_N	1	32	9e-15	PFAM
Pfam:Troponin	47	112	1.8e-20	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 benign
Transcript: ENSMUST00000163560

Predicted Effect

probably benign
Transcript: ENSMUST00000163710

SMART Domains

Protein: ENSMUSP00000129626
Gene: ENSMUSG00000064179

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 benign
Transcript: ENSMUST00000166161

SMART Domains

Protein: ENSMUSP00000125795
Gene: ENSMUSG00000064179

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

probably benign
Transcript: ENSMUST00000178163

SMART Domains

Protein: ENSMUSP00000137198
Gene: ENSMUSG00000064179

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

probably benign
Transcript: ENSMUST00000209148

Meta Mutation Damage Score

0.1658

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (37/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking both functional copies of this gene die of acute heart failure. [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
Aadacl3	T	C	4: 144,182,760 (GRCm39)	Y236C	probably benign	Het
Adamts12	T	A	15: 11,331,866 (GRCm39)	C1461*	probably null	Het
Akap9	A	G	5: 4,096,699 (GRCm39)	N2525D	possibly damaging	Het
Atp6v1c1	A	G	15: 38,690,794 (GRCm39)	N315S	probably damaging	Het
B3gnt7	G	A	1: 86,233,109 (GRCm39)	M1I	probably null	Het
C2cd4d	G	T	3: 94,271,130 (GRCm39)	R132L	probably damaging	Het
Cd244a	A	G	1: 171,401,775 (GRCm39)	Y167C	probably damaging	Het
Chd4	A	G	6: 125,099,825 (GRCm39)	N1666D	possibly damaging	Het
Cubn	A	G	2: 13,386,648 (GRCm39)	I1539T	possibly damaging	Het
Dcdc2a	A	T	13: 25,304,372 (GRCm39)		probably benign	Het
Dgka	C	T	10: 128,565,463 (GRCm39)		probably null	Het
Ephb4	T	G	5: 137,368,066 (GRCm39)	V737G	probably damaging	Het
Etv2	T	C	7: 30,334,167 (GRCm39)	N189D	probably benign	Het
Exoc4	G	T	6: 33,556,965 (GRCm39)	C490F	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gpbp1l1	A	G	4: 116,438,479 (GRCm39)	M192V	possibly damaging	Het
Ireb2	A	G	9: 54,789,671 (GRCm39)	K115R	probably benign	Het
Mybpc1	T	C	10: 88,396,223 (GRCm39)	E208G	possibly damaging	Het
Nfic	C	A	10: 81,256,191 (GRCm39)	A158S	probably benign	Het
Nos3	A	T	5: 24,585,241 (GRCm39)	I798L	probably benign	Het
Ntrk1	A	T	3: 87,691,288 (GRCm39)	L292Q	probably damaging	Het
Or52h7	G	A	7: 104,214,183 (GRCm39)	V252I	probably benign	Het
Or8u3-ps	C	T	2: 85,953,198 (GRCm39)	T310I	probably benign	Het
Pcdhb2	G	C	18: 37,429,416 (GRCm39)	R463P	probably benign	Het
Pcdhgb6	A	T	18: 37,875,526 (GRCm39)	D78V	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Prelid3b	C	A	2: 174,311,155 (GRCm39)	W59L	probably benign	Het
Prex2	T	G	1: 11,182,967 (GRCm39)	S405R	probably damaging	Het
Rp1	G	A	1: 4,422,217 (GRCm39)	Q248*	probably null	Het
Rspo4	T	A	2: 151,709,735 (GRCm39)	C47S	probably damaging	Het
Ryr3	C	A	2: 112,596,656 (GRCm39)	M2499I	probably damaging	Het
Smarca5	A	G	8: 81,431,380 (GRCm39)	Y946H	probably damaging	Het
Spata31d1e	A	G	13: 59,890,521 (GRCm39)	I433T	probably benign	Het
Tcn2	T	C	11: 3,867,649 (GRCm39)	*431W	probably null	Het
Tert	A	G	13: 73,776,107 (GRCm39)	E286G	probably benign	Het
Unc79	T	C	12: 102,964,699 (GRCm39)	I49T	possibly damaging	Het
Zfp687	A	G	3: 94,916,688 (GRCm39)	S813P	possibly damaging	Het
Znfx1	T	A	2: 166,898,681 (GRCm39)	H81L	probably benign	Het

Other mutations in Tnni3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1589:Tnni3	UTSW	7	4,523,525 (GRCm39)	missense	probably damaging	1.00
R2259:Tnni3	UTSW	7	4,522,405 (GRCm39)	missense	probably benign	0.11
R5696:Tnni3	UTSW	7	4,523,453 (GRCm39)	missense	probably benign	0.03
R5954:Tnni3	UTSW	7	4,522,539 (GRCm39)	missense	probably damaging	1.00
R7338:Tnni3	UTSW	7	4,524,379 (GRCm39)	missense	probably benign
R7743:Tnni3	UTSW	7	4,524,891 (GRCm39)	missense	probably benign	0.04
R9170:Tnni3	UTSW	7	4,521,376 (GRCm39)	missense	probably damaging	1.00
Z1176:Tnni3	UTSW	7	4,525,281 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCACGTTCTATGCTCTCTG -3'
(R):5'- CAAGAAGTTTGCCAGGTTGAC -3'

Sequencing Primer
(F):5'- TAGCCCATGTGAGAAACCCATGTTAG -3'
(R):5'- TTGACTGAAGAGACAGGAAGTGCTC -3'

Posted On

2019-05-13