Incidental Mutation 'R2340:Tnnt1'
ID 246705
Institutional Source Beutler Lab
Gene Symbol Tnnt1
Ensembl Gene ENSMUSG00000064179
Gene Name troponin T1, skeletal, slow
Synonyms Tnt, ssTnT, sTnT, skeletal muscle slow-twitch TnT
MMRRC Submission 040326-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R2340 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4507568-4518974 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 4516615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071798] [ENSMUST00000098859] [ENSMUST00000108587] [ENSMUST00000163538] [ENSMUST00000163722] [ENSMUST00000178163] [ENSMUST00000166959] [ENSMUST00000166161] [ENSMUST00000163710] [ENSMUST00000166268] [ENSMUST00000163560]
AlphaFold O88346
Predicted Effect probably benign
Transcript: ENSMUST00000071798
SMART Domains Protein: ENSMUSP00000071704
Gene: ENSMUSG00000064179

DomainStartEndE-ValueType
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: ENSMUST00000098859
SMART Domains Protein: ENSMUSP00000096458
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000126873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132621
Predicted Effect probably benign
Transcript: ENSMUST00000163538
SMART Domains Protein: ENSMUSP00000127964
Gene: ENSMUSG00000064179

DomainStartEndE-ValueType
low complexity region 5 56 N/A INTRINSIC
Pfam:Troponin 68 160 4.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163722
SMART Domains Protein: ENSMUSP00000129409
Gene: ENSMUSG00000064179

DomainStartEndE-ValueType
low complexity region 17 64 N/A INTRINSIC
Pfam:Troponin 76 118 1.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178163
SMART Domains Protein: ENSMUSP00000137198
Gene: ENSMUSG00000064179

DomainStartEndE-ValueType
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: ENSMUST00000166959
SMART Domains Protein: ENSMUSP00000129109
Gene: ENSMUSG00000064179

DomainStartEndE-ValueType
low complexity region 5 57 N/A INTRINSIC
Pfam:Troponin 69 192 1.5e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168111
Predicted Effect probably benign
Transcript: ENSMUST00000166161
SMART Domains Protein: ENSMUSP00000125795
Gene: ENSMUSG00000064179

DomainStartEndE-ValueType
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: ENSMUST00000163710
SMART Domains Protein: ENSMUSP00000129626
Gene: ENSMUSG00000064179

DomainStartEndE-ValueType
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: ENSMUST00000166268
SMART Domains Protein: ENSMUSP00000128476
Gene: ENSMUSG00000064179

DomainStartEndE-ValueType
coiled coil region 2 28 N/A INTRINSIC
Pfam:Troponin 58 200 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163560
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: This gene encodes the slow skeletal tropomyosin-binding subunit of the troponin complex and plays an essential role in the regulation of striated muscle contraction. In humans, mutations in this gene are associated with nemaline myopathy type 5. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a null or hypomorphic allele show small and loss of type I slow skeletal muscle fibers with compensatory hypertrophy of type II fast fibers and reduced contractile force and tolerance of skeletal muscle fibers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abca13 A T 11: 9,349,165 (GRCm39) I3580F probably damaging Het
B3glct A G 5: 149,668,905 (GRCm39) K280E probably benign Het
Chd6 TG T 2: 160,807,679 (GRCm39) probably null Het
Clu T C 14: 66,218,358 (GRCm39) V406A probably damaging Het
D930020B18Rik A G 10: 121,490,741 (GRCm39) K114E probably damaging Het
Dsg1c T A 18: 20,400,945 (GRCm39) D149E probably damaging Het
Entrep2 A G 7: 64,425,565 (GRCm39) S176P probably benign Het
Fat2 A T 11: 55,160,922 (GRCm39) D3269E possibly damaging Het
Frmd4a A G 2: 4,591,187 (GRCm39) D69G probably damaging Het
Hacd1 G T 2: 14,040,698 (GRCm39) P186T probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Kif2c A G 4: 117,027,038 (GRCm39) V320A probably damaging Het
Lypd2 T A 15: 74,606,103 (GRCm39) I12L probably benign Het
Midn G T 10: 79,985,946 (GRCm39) R12L possibly damaging Het
Or2b6 T C 13: 21,822,757 (GRCm39) K312R probably benign Het
Or8g34 A G 9: 39,373,105 (GRCm39) Y126C probably damaging Het
Or9q2 A G 19: 13,772,135 (GRCm39) V280A probably benign Het
Pkhd1 A T 1: 20,271,079 (GRCm39) V3158E probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rad51d T C 11: 82,772,647 (GRCm39) D206G probably damaging Het
Rcan1 A G 16: 92,194,240 (GRCm39) F58L probably damaging Het
Rnf145 T C 11: 44,422,205 (GRCm39) I96T probably benign Het
Rnf216 A T 5: 143,066,089 (GRCm39) F500I probably damaging Het
Rph3al T C 11: 75,724,258 (GRCm39) T282A probably benign Het
Serpina11 T C 12: 103,951,002 (GRCm39) R240G probably benign Het
Slc12a2 T A 18: 58,033,122 (GRCm39) I400N probably benign Het
Slco1a4 C A 6: 141,787,103 (GRCm39) C28F probably benign Het
Sned1 T A 1: 93,184,174 (GRCm39) I134N probably damaging Het
Spock3 T A 8: 63,798,747 (GRCm39) M253K probably damaging Het
Tmem184b T A 15: 79,262,732 (GRCm39) M42L probably benign Het
Ttll5 T A 12: 85,938,922 (GRCm39) S407T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zfat T C 15: 67,973,390 (GRCm39) E1117G probably damaging Het
Zfp606 A G 7: 12,227,016 (GRCm39) E321G possibly damaging Het
Other mutations in Tnnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Tnnt1 APN 7 4,510,549 (GRCm39) missense possibly damaging 0.96
IGL01391:Tnnt1 APN 7 4,517,211 (GRCm39) critical splice donor site probably null
IGL01582:Tnnt1 APN 7 4,512,982 (GRCm39) missense probably damaging 1.00
R0098:Tnnt1 UTSW 7 4,512,044 (GRCm39) missense probably damaging 0.99
R0963:Tnnt1 UTSW 7 4,510,594 (GRCm39) missense probably damaging 1.00
R1489:Tnnt1 UTSW 7 4,510,524 (GRCm39) nonsense probably null
R4224:Tnnt1 UTSW 7 4,513,006 (GRCm39) missense probably damaging 1.00
R4624:Tnnt1 UTSW 7 4,515,267 (GRCm39) intron probably benign
R4969:Tnnt1 UTSW 7 4,510,573 (GRCm39) missense probably damaging 1.00
R5245:Tnnt1 UTSW 7 4,513,066 (GRCm39) missense probably damaging 1.00
R5822:Tnnt1 UTSW 7 4,519,345 (GRCm39) nonsense probably null
R6520:Tnnt1 UTSW 7 4,512,060 (GRCm39) nonsense probably null
R6556:Tnnt1 UTSW 7 4,512,576 (GRCm39) missense probably damaging 1.00
R6573:Tnnt1 UTSW 7 4,517,333 (GRCm39) splice site probably null
R6838:Tnnt1 UTSW 7 4,510,406 (GRCm39) missense possibly damaging 0.94
R7318:Tnnt1 UTSW 7 4,513,547 (GRCm39) splice site probably null
R7889:Tnnt1 UTSW 7 4,511,582 (GRCm39) missense probably damaging 1.00
R8405:Tnnt1 UTSW 7 4,510,592 (GRCm39) missense probably damaging 0.98
R9217:Tnnt1 UTSW 7 4,513,381 (GRCm39) missense probably benign 0.18
R9621:Tnnt1 UTSW 7 4,511,501 (GRCm39) missense probably benign 0.08
X0010:Tnnt1 UTSW 7 4,512,970 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACGCCAGGCAATTTCCCTTC -3'
(R):5'- AATCCCACAGGTCTCTTCCTAGG -3'

Sequencing Primer
(F):5'- AGGCAATTTCCCTTCACGGC -3'
(R):5'- GGTCTCTTCCTAGGCCTTGG -3'
Posted On 2014-10-30