Incidental Mutation 'IGL02830:Tnnc2'
ID 361389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnnc2
Ensembl Gene ENSMUSG00000017300
Gene Name troponin C2, fast
Synonyms Tncs
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # IGL02830
Quality Score
Status
Chromosome 2
Chromosomal Location 164619081-164621654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164619430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 138 (D138V)
Ref Sequence ENSEMBL: ENSMUSP00000099384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001439] [ENSMUST00000088248] [ENSMUST00000103095]
AlphaFold P20801
Predicted Effect probably benign
Transcript: ENSMUST00000001439
SMART Domains Protein: ENSMUSP00000001439
Gene: ENSMUSG00000001403

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
UBCc 33 170 8.8e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088248
SMART Domains Protein: ENSMUSP00000085581
Gene: ENSMUSG00000001403

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
UBCc 33 175 1.88e-64 SMART
Predicted Effect probably null
Transcript: ENSMUST00000103095
AA Change: D138V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099384
Gene: ENSMUSG00000017300
AA Change: D138V

DomainStartEndE-ValueType
EFh 19 47 2.44e-5 SMART
EFh 55 83 8.31e-8 SMART
EFh 95 123 2.01e-6 SMART
EFh 131 159 8.06e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155443
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,348,235 (GRCm39) E67D possibly damaging Het
Acad11 T A 9: 103,953,118 (GRCm39) F116I probably damaging Het
Acox2 G A 14: 8,255,298 (GRCm38) T160I probably damaging Het
Anxa7 A T 14: 20,506,608 (GRCm39) M444K possibly damaging Het
Atg2a A G 19: 6,297,711 (GRCm39) D423G probably benign Het
Cela3a T C 4: 137,128,946 (GRCm39) N282S probably benign Het
Cyp2c50 G A 19: 40,086,500 (GRCm39) V296I probably benign Het
Fcgbpl1 C A 7: 27,862,348 (GRCm39) H2471Q probably damaging Het
Fgd3 A G 13: 49,418,107 (GRCm39) probably benign Het
Gfus C T 15: 75,797,437 (GRCm39) V275I probably benign Het
Gimap8 G A 6: 48,633,239 (GRCm39) A353T probably benign Het
Grin3a T A 4: 49,702,787 (GRCm39) M900L possibly damaging Het
H1f0 T G 15: 78,913,511 (GRCm39) probably benign Het
Heatr1 T C 13: 12,441,093 (GRCm39) V1456A possibly damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Kbtbd3 T A 9: 4,330,096 (GRCm39) S157T possibly damaging Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Klc1 T C 12: 111,743,341 (GRCm39) Y223H probably damaging Het
Klhl33 C T 14: 51,129,214 (GRCm39) V672M probably damaging Het
Lrrc49 G A 9: 60,592,393 (GRCm39) L34F probably damaging Het
Nalcn C T 14: 123,530,881 (GRCm39) V1386I probably damaging Het
Or14c39 T G 7: 86,344,382 (GRCm39) C239W probably damaging Het
Or4b13 A T 2: 90,083,125 (GRCm39) I69N probably damaging Het
Or51b6 C T 7: 103,555,651 (GRCm39) P2S probably benign Het
Or5ac19 A G 16: 59,089,416 (GRCm39) S205P possibly damaging Het
Orc5 A T 5: 22,734,265 (GRCm39) L173Q probably damaging Het
Otud4 T G 8: 80,399,930 (GRCm39) D880E probably benign Het
Pde12 T C 14: 26,389,740 (GRCm39) Y323C probably damaging Het
Pde8b G T 13: 95,189,409 (GRCm39) D198E probably benign Het
Prom2 T A 2: 127,376,989 (GRCm39) I542F possibly damaging Het
Ptprj G A 2: 90,283,488 (GRCm39) T952I probably benign Het
Ribc2 T A 15: 85,016,458 (GRCm39) probably benign Het
Sec31b C T 19: 44,520,142 (GRCm39) R214K probably damaging Het
Senp5 G A 16: 31,802,303 (GRCm39) probably benign Het
Sh3pxd2a G A 19: 47,271,517 (GRCm39) R249W probably damaging Het
Sorcs3 G A 19: 48,711,441 (GRCm39) probably null Het
Spata31d1c A G 13: 65,183,180 (GRCm39) T241A probably benign Het
Tac1 G A 6: 7,555,650 (GRCm39) V13I probably benign Het
Tspan32 T A 7: 142,571,329 (GRCm39) M159K possibly damaging Het
Ttc28 A T 5: 111,434,105 (GRCm39) T2380S probably benign Het
Ubc T A 5: 125,464,377 (GRCm39) I317F probably damaging Het
Usp24 T C 4: 106,204,584 (GRCm39) S268P possibly damaging Het
Vmn2r91 C A 17: 18,356,884 (GRCm39) H850Q probably benign Het
Xrn1 T C 9: 95,900,234 (GRCm39) probably null Het
Zfp329 A C 7: 12,544,043 (GRCm39) C494G probably damaging Het
Zfp54 T C 17: 21,653,718 (GRCm39) S71P probably damaging Het
Other mutations in Tnnc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Tnnc2 APN 2 164,619,753 (GRCm39) missense probably damaging 1.00
R0211:Tnnc2 UTSW 2 164,619,404 (GRCm39) missense probably damaging 1.00
R0211:Tnnc2 UTSW 2 164,619,404 (GRCm39) missense probably damaging 1.00
R1635:Tnnc2 UTSW 2 164,619,512 (GRCm39) missense probably benign 0.00
R3968:Tnnc2 UTSW 2 164,619,457 (GRCm39) missense possibly damaging 0.89
R7960:Tnnc2 UTSW 2 164,619,704 (GRCm39) missense probably benign
R8066:Tnnc2 UTSW 2 164,619,661 (GRCm39) missense possibly damaging 0.85
R8776:Tnnc2 UTSW 2 164,620,135 (GRCm39) missense probably benign
R8776-TAIL:Tnnc2 UTSW 2 164,620,135 (GRCm39) missense probably benign
Z1177:Tnnc2 UTSW 2 164,619,891 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18