Mutagenetix > Incidental Mutation

Incidental Mutation 'R0110:Tnnc1'

20410

Institutional Source

Beutler Lab

Gene Symbol

Tnnc1

Ensembl Gene

ENSMUSG00000091898

Gene Name

troponin C, cardiac/slow skeletal

Synonyms

cTnC, TnC

MMRRC Submission

038396-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R0110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30930274-30933671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30933365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 149 (D149G)

Ref Sequence

ENSEMBL: ENSMUSP00000131991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000164989] [ENSMUST00000165981] [ENSMUST00000169169] [ENSMUST00000171735] [ENSMUST00000172142] [ENSMUST00000170268]

AlphaFold

P19123

Predicted Effect

probably benign
Transcript: ENSMUST00000022469

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
PDB:4PQ8\|A	287	420	9e-8	PDB
SCOP:d1h6ta2	291	421	6e-29	SMART
Blast:LRR	311	332	5e-6	BLAST
Blast:LRR	333	355	6e-6	BLAST
Blast:LRR	378	403	5e-7	BLAST
Blast:LRR	403	429	6e-7	BLAST
low complexity region	489	501	N/A	INTRINSIC
low complexity region	517	534	N/A	INTRINSIC
coiled coil region	625	650	N/A	INTRINSIC
low complexity region	662	695	N/A	INTRINSIC
low complexity region	1038	1069	N/A	INTRINSIC
low complexity region	1081	1193	N/A	INTRINSIC
low complexity region	1491	1509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164617

Predicted Effect

probably benign
Transcript: ENSMUST00000164989

SMART Domains

Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
Pfam:LRR_4	289	332	3.2e-8	PFAM
Pfam:LRR_1	290	311	2.9e-3	PFAM
Pfam:LRR_1	313	332	4.2e-2	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165981

SMART Domains

Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
Pfam:LRR_7	289	305	7.4e-2	PFAM
Pfam:LRR_6	289	309	3.8e-2	PFAM
Pfam:LRR_4	289	333	5.9e-8	PFAM
Pfam:LRR_8	289	346	6.8e-10	PFAM
Pfam:LRR_1	290	311	4.4e-3	PFAM
Pfam:LRR_8	312	369	7.3e-9	PFAM
Pfam:LRR_1	313	333	1.8e-2	PFAM
Pfam:LRR_4	329	377	2.3e-8	PFAM
Pfam:LRR_6	333	354	2e-3	PFAM
Pfam:LRR_7	334	350	1.9e-1	PFAM
Pfam:LRR_1	335	354	1.2e-2	PFAM
Blast:LRR	378	403	1e-6	BLAST
Blast:LRR	403	429	1e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167602

Predicted Effect

probably damaging
Transcript: ENSMUST00000169169
AA Change: D149G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131991
Gene: ENSMUSG00000091898
AA Change: D149G

Domain	Start	End	E-Value	Type
EFh	19	48	1.08e2	SMART
EFh	56	84	2.39e-8	SMART
EFh	96	124	2.7e-7	SMART
EFh	132	160	4.03e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171735

SMART Domains

Protein: ENSMUSP00000127132
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172142

SMART Domains

Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
Pfam:LRR_7	289	305	8.2e-2	PFAM
Pfam:LRR_6	289	309	4.2e-2	PFAM
Pfam:LRR_4	289	333	6.6e-8	PFAM
Pfam:LRR_8	289	346	7.6e-10	PFAM
Pfam:LRR_1	290	311	4.9e-3	PFAM
Pfam:LRR_8	312	369	7.7e-9	PFAM
Pfam:LRR_1	313	333	2e-2	PFAM
Pfam:LRR_4	329	377	2.7e-8	PFAM
Pfam:LRR_6	333	354	2.2e-3	PFAM
Pfam:LRR_7	334	350	2.1e-1	PFAM
Pfam:LRR_1	335	354	1.3e-2	PFAM
Blast:LRR	378	403	1e-6	BLAST
Blast:LRR	403	429	1e-7	BLAST
low complexity region	489	501	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170268

SMART Domains

Protein: ENSMUSP00000128765
Gene: ENSMUSG00000091898

Domain	Start	End	E-Value	Type
EFh	19	48	1.08e2	SMART
EFh	56	84	2.39e-8	SMART

Meta Mutation Damage Score

0.6407

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

98% (105/107)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,320 (GRCm39)		probably benign	Het
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Brd8dc	A	T	18: 34,729,204 (GRCm39)	D42E	probably damaging	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	C	A	1: 44,098,384 (GRCm39)	V905F	probably benign	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Celsr3	G	A	9: 108,704,204 (GRCm39)	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cntln	C	T	4: 85,014,994 (GRCm39)	T1095I	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col11a1	A	T	3: 113,899,105 (GRCm39)		probably benign	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Dock4	A	G	12: 40,671,311 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam227b	T	A	2: 125,942,841 (GRCm39)	S319C	probably damaging	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Gal3st2c	C	T	1: 93,937,219 (GRCm39)	P388L	probably benign	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Gm5134	C	A	10: 75,810,079 (GRCm39)	T120N	probably benign	Het
Gmip	C	T	8: 70,268,259 (GRCm39)		probably benign	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gsdme	C	A	6: 50,223,107 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hadhb	T	C	5: 30,374,483 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Itpa	A	T	2: 130,521,338 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,347,758 (GRCm39)	T605A	probably benign	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lap3	T	C	5: 45,652,632 (GRCm39)		probably benign	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map3k6	T	C	4: 132,971,105 (GRCm39)	L273P	probably damaging	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mrc1	T	A	2: 14,243,353 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Mtcl1	C	T	17: 66,665,109 (GRCm39)	E1149K	possibly damaging	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Ncapg	T	C	5: 45,850,489 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,180,755 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Parp3	A	G	9: 106,348,995 (GRCm39)	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,126,808 (GRCm39)	N296Y	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Prmt1	A	G	7: 44,628,225 (GRCm39)		probably benign	Het
Proc	G	A	18: 32,258,171 (GRCm39)	T258I	probably benign	Het
Prom2	T	G	2: 127,373,033 (GRCm39)	S679R	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Rin2	A	G	2: 145,702,953 (GRCm39)	K550E	probably benign	Het
Rtn4	T	A	11: 29,683,849 (GRCm39)		probably benign	Het
Semp2l1	T	A	1: 32,584,956 (GRCm39)	N318I	possibly damaging	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,609,998 (GRCm39)		probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tpp2	A	G	1: 44,038,853 (GRCm39)	D1133G	probably damaging	Het
Tpp2	T	A	1: 44,017,664 (GRCm39)	V756E	probably benign	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Tsen15	A	G	1: 152,247,548 (GRCm39)	V148A	probably damaging	Het
Ttn	T	A	2: 76,694,672 (GRCm39)		probably benign	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Wdr41	T	C	13: 95,154,619 (GRCm39)		probably benign	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp423	A	G	8: 88,508,887 (GRCm39)	S486P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het

Other mutations in Tnnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02188:Tnnc1	APN	14	30,932,617 (GRCm39)	missense	possibly damaging	0.80
IGL03308:Tnnc1	APN	14	30,931,798 (GRCm39)	unclassified	probably benign
D3080:Tnnc1	UTSW	14	30,932,147 (GRCm39)	missense	probably damaging	0.98
R0469:Tnnc1	UTSW	14	30,933,365 (GRCm39)	missense	probably damaging	1.00
R8557:Tnnc1	UTSW	14	30,932,562 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGTCTTTGCATCCAATGAGAGGTGAG -3'
(R):5'- GACCTGATGAAAGTCTCTGGCAGAAG -3'

Sequencing Primer
(F):5'- ccctctccctccctcctc -3'
(R):5'- ATTTGCGTTCCCCAGGACAG -3'

Posted On

2013-04-11