Mutagenetix > Incidental Mutation

Incidental Mutation 'R9170:Tnni3'

696341

Institutional Source

Beutler Lab

Gene Symbol

Tnni3

Ensembl Gene

ENSMUSG00000035458

Gene Name

troponin I, cardiac 3

Synonyms

Tn1, cardiac troponin I, cTnI

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4521304-4526228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4521376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 209 (F209L)

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

probably damaging
Transcript: ENSMUST00000098859
AA Change: F209L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096458
Gene: ENSMUSG00000035458
AA Change: F209L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,516 (GRCm39)	K702E	probably benign	Het
Agbl1	T	C	7: 75,985,069 (GRCm39)	I162T		Het
Agpat2	A	T	2: 26,487,230 (GRCm39)	I101N	possibly damaging	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Arhgap32	G	A	9: 32,162,039 (GRCm39)	R330H	possibly damaging	Het
Asb4	T	A	6: 5,390,775 (GRCm39)	I56N	probably benign	Het
Atp2a2	C	T	5: 122,604,087 (GRCm39)	V449M	possibly damaging	Het
Bend4	A	G	5: 67,575,080 (GRCm39)	L267P	probably damaging	Het
Catspere2	T	A	1: 177,967,949 (GRCm39)	N745K	probably benign	Het
Celf2	A	G	2: 6,554,646 (GRCm39)	F484L	possibly damaging	Het
Chd3	T	C	11: 69,241,648 (GRCm39)	D1495G	possibly damaging	Het
Chrna3	A	T	9: 54,933,671 (GRCm39)	V8D	unknown	Het
Cog3	T	C	14: 75,966,802 (GRCm39)	Y466C	probably damaging	Het
Col5a1	A	G	2: 27,841,363 (GRCm39)	E328G	unknown	Het
Col7a1	A	G	9: 108,785,707 (GRCm39)	Y392C	unknown	Het
Crtc3	A	T	7: 80,248,697 (GRCm39)	N255K	probably damaging	Het
Dnaaf1	T	C	8: 120,302,195 (GRCm39)	I32T	probably benign	Het
Dner	A	T	1: 84,512,647 (GRCm39)	C307S	probably damaging	Het
Dzip3	T	C	16: 48,772,401 (GRCm39)	K423E	possibly damaging	Het
Eif2b4	A	G	5: 31,345,393 (GRCm39)	S414P	probably damaging	Het
Elp4	T	C	2: 105,624,891 (GRCm39)	E334G	probably damaging	Het
Emilin2	T	A	17: 71,587,689 (GRCm39)	N141I	probably benign	Het
Fstl1	T	A	16: 37,647,140 (GRCm39)	V170E	probably damaging	Het
Fxn	A	G	19: 24,244,687 (GRCm39)	I151T	probably damaging	Het
Gtf3c4	A	T	2: 28,730,214 (GRCm39)	V9E	possibly damaging	Het
Ino80d	A	G	1: 63,132,607 (GRCm39)	S19P	probably damaging	Het
Kank3	T	G	17: 34,037,242 (GRCm39)	L370R	probably damaging	Het
Large1	T	A	8: 73,542,645 (GRCm39)	Y693F	probably benign	Het
Lig4	C	A	8: 10,022,202 (GRCm39)	W526L	probably damaging	Het
Mib1	C	T	18: 10,726,437 (GRCm39)	P45S	probably benign	Het
Ndufaf6	T	C	4: 11,070,301 (GRCm39)	K107E	probably benign	Het
Nf1	T	C	11: 79,436,291 (GRCm39)	L1977P	probably damaging	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or52s6	G	A	7: 103,091,850 (GRCm39)	P160L	probably damaging	Het
Or52z15	T	A	7: 103,332,404 (GRCm39)	F160I	probably benign	Het
Pappa	G	A	4: 65,258,962 (GRCm39)	R1570Q	probably damaging	Het
Parp6	G	A	9: 59,531,213 (GRCm39)	A32T		Het
Pclo	A	G	5: 14,731,068 (GRCm39)	Q64R		Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,341,600 (GRCm39)	S10P	possibly damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prf1	A	C	10: 61,136,216 (GRCm39)	D164A	probably damaging	Het
Rarres1	A	G	3: 67,386,924 (GRCm39)	V226A	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Rnf123	A	G	9: 107,948,375 (GRCm39)	L106P	probably damaging	Het
Scnn1b	A	T	7: 121,511,326 (GRCm39)	T338S	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc9a5	T	C	8: 106,080,139 (GRCm39)	V94A	probably damaging	Het
Slco4a1	A	G	2: 180,106,478 (GRCm39)	D220G	probably benign	Het
Spata31e2	T	A	1: 26,723,485 (GRCm39)	Q565L	possibly damaging	Het
Sult1c2	T	C	17: 54,269,200 (GRCm39)	D272G	possibly damaging	Het
Tgm1	T	C	14: 55,946,355 (GRCm39)	N427S	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Ttn	T	A	2: 76,745,912 (GRCm39)	S5046C	probably damaging	Het
Tubb2a	T	A	13: 34,260,628 (GRCm39)	I24L	probably benign	Het
Uevld	C	A	7: 46,587,746 (GRCm39)	G318V	probably damaging	Het
Unkl	T	C	17: 25,448,350 (GRCm39)	S308P	probably benign	Het
Vmn1r159	C	A	7: 22,542,765 (GRCm39)	C89F	probably damaging	Het
Wee2	T	G	6: 40,437,977 (GRCm39)	S302A	probably benign	Het
Ydjc	T	C	16: 16,965,666 (GRCm39)	C144R	probably benign	Het
Zc3h12c	A	G	9: 52,027,419 (GRCm39)	S667P	probably benign	Het
Zfp280b	T	A	10: 75,874,651 (GRCm39)	Y177N	probably benign	Het
Zfp354b	C	T	11: 50,814,362 (GRCm39)	E188K	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
R6973:Tnni3	UTSW	7	4,521,416 (GRCm39)	missense	possibly damaging	0.95
R7338:Tnni3	UTSW	7	4,524,379 (GRCm39)	missense	probably benign
R7743:Tnni3	UTSW	7	4,524,891 (GRCm39)	missense	probably benign	0.04
Z1176:Tnni3	UTSW	7	4,525,281 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCCATGTGAGAAACCCATG -3'
(R):5'- GGGAAATGATTACAAGAAGTTTGCC -3'

Sequencing Primer
(F):5'- CCATGTTAGAAACTTGCCTGTGAC -3'
(R):5'- TACAAGAAGTTTGCCAGGTTGACTG -3'

Posted On

2022-02-07