Incidental Mutation 'IGL00585:Tnnt1'
ID14533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnnt1
Ensembl Gene ENSMUSG00000064179
Gene Nametroponin T1, skeletal, slow
SynonymsssTnT, sTnT, Tnt, skeletal muscle slow-twitch TnT
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL00585
Quality Score
Status
Chromosome7
Chromosomal Location4504570-4516382 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 4507550 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 224 (M224R)
Ref Sequence ENSEMBL: ENSMUSP00000137198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071798] [ENSMUST00000108587] [ENSMUST00000163538] [ENSMUST00000163710] [ENSMUST00000163722] [ENSMUST00000166161] [ENSMUST00000166268] [ENSMUST00000166959] [ENSMUST00000178163]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071798
AA Change: M224R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071704
Gene: ENSMUSG00000064179
AA Change: M224R

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 noncoding transcript
Transcript: ENSMUST00000086502
Predicted Effect possibly damaging
Transcript: ENSMUST00000108587
AA Change: M225R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104228
Gene: ENSMUSG00000064179
AA Change: M225R

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 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 possibly damaging
Transcript: ENSMUST00000163710
AA Change: M213R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129626
Gene: ENSMUSG00000064179
AA Change: M213R

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: 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 possibly damaging
Transcript: ENSMUST00000166161
AA Change: M212R

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125795
Gene: ENSMUSG00000064179
AA Change: M212R

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: 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: 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: ENSMUST00000168111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169571
Predicted Effect possibly damaging
Transcript: ENSMUST00000178163
AA Change: M224R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137198
Gene: ENSMUSG00000064179
AA Change: M224R

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
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,300,320 I664F probably damaging Het
Abcg4 A T 9: 44,281,623 M142K probably benign Het
Afdn A G 17: 13,884,628 T1198A probably damaging Het
Angptl2 T C 2: 33,246,227 S475P probably damaging Het
Ap3s2 T C 7: 79,916,076 E34G probably benign Het
C1qtnf9 T C 14: 60,779,993 F324S probably damaging Het
Cacng7 A G 7: 3,366,031 Y170C probably damaging Het
Ceacam18 G A 7: 43,637,011 V103M possibly damaging Het
Chrnb1 G A 11: 69,793,916 P144S probably damaging Het
Chuk T C 19: 44,078,312 H652R probably damaging Het
Ckap5 C T 2: 91,619,825 L1948F probably damaging Het
Clstn1 A T 4: 149,638,312 H469L probably benign Het
Csf2rb2 C T 15: 78,284,847 G594S possibly damaging Het
Ctsq A T 13: 61,037,127 D248E probably benign Het
Ep400 A T 5: 110,755,905 I276K possibly damaging Het
Gbf1 G A 19: 46,284,249 probably null Het
Gldn T A 9: 54,338,464 I433N probably damaging Het
Gm136 T A 4: 34,752,322 E69V probably damaging Het
Gm28177 T C 1: 52,082,579 probably null Het
Gtf2h2 A G 13: 100,480,998 probably benign Het
Ints12 T C 3: 133,100,809 probably null Het
Ltbp4 T C 7: 27,326,733 D615G probably damaging Het
Mgme1 C T 2: 144,271,989 P4S probably benign Het
Nae1 A G 8: 104,526,278 probably null Het
Nup133 G A 8: 123,909,994 A956V probably damaging Het
Oacyl T A 18: 65,749,640 M529K possibly damaging Het
Osbpl1a T A 18: 12,757,626 E519V possibly damaging Het
Pacs1 A T 19: 5,153,698 V333E probably damaging Het
Pik3c3 T G 18: 30,303,078 probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppp6r3 A G 19: 3,490,826 C431R probably damaging Het
Pprc1 T C 19: 46,062,648 S206P possibly damaging Het
Rab20 A G 8: 11,454,212 Y163H probably benign Het
Sde2 T A 1: 180,855,818 C46S possibly damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Spata20 T G 11: 94,479,117 L784F probably damaging Het
Trank1 T C 9: 111,349,290 F349L possibly damaging Het
Ttf1 T C 2: 29,073,883 probably benign Het
Usp54 T A 14: 20,573,837 S651C probably damaging Het
Vps45 A G 3: 96,000,066 *571R probably null Het
Yod1 G A 1: 130,719,133 G249E probably damaging Het
Ythdc2 A G 18: 44,864,361 Y340C probably damaging Het
Zfp366 G A 13: 99,246,572 probably benign Het
Zfp648 T A 1: 154,204,189 D31E possibly damaging Het
Other mutations in Tnnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Tnnt1 APN 7 4514212 critical splice donor site probably null
IGL01582:Tnnt1 APN 7 4509983 missense probably damaging 1.00
R0098:Tnnt1 UTSW 7 4509045 missense probably damaging 0.99
R0963:Tnnt1 UTSW 7 4507595 missense probably damaging 1.00
R1489:Tnnt1 UTSW 7 4507525 nonsense probably null
R2340:Tnnt1 UTSW 7 4513616 splice site probably benign
R4224:Tnnt1 UTSW 7 4510007 missense probably damaging 1.00
R4624:Tnnt1 UTSW 7 4512268 intron probably benign
R4969:Tnnt1 UTSW 7 4507574 missense probably damaging 1.00
R5245:Tnnt1 UTSW 7 4510067 missense probably damaging 1.00
R5822:Tnnt1 UTSW 7 4516346 nonsense probably null
R6520:Tnnt1 UTSW 7 4509061 nonsense probably null
R6556:Tnnt1 UTSW 7 4509577 missense probably damaging 1.00
R6573:Tnnt1 UTSW 7 4514334 splice site probably null
R6838:Tnnt1 UTSW 7 4507407 missense possibly damaging 0.94
R7318:Tnnt1 UTSW 7 4510548 splice site probably null
R7889:Tnnt1 UTSW 7 4508583 missense probably damaging 1.00
X0010:Tnnt1 UTSW 7 4509971 missense probably damaging 0.99
Posted On2012-12-06