Incidental Mutation 'R6474:Tcap'
ID 516742
Institutional Source Beutler Lab
Gene Symbol Tcap
Ensembl Gene ENSMUSG00000007877
Gene Name titin-cap
Synonyms Telethonin
MMRRC Submission 044607-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6474 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98274637-98275779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98275003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 46 (Q46K)
Ref Sequence ENSEMBL: ENSMUSP00000008021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008021] [ENSMUST00000018311] [ENSMUST00000041301] [ENSMUST00000090827]
AlphaFold O70548
Predicted Effect probably benign
Transcript: ENSMUST00000008021
AA Change: Q46K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000008021
Gene: ENSMUSG00000007877
AA Change: Q46K

DomainStartEndE-ValueType
Pfam:Telethonin 3 167 7.7e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000018311
SMART Domains Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
Pfam:MENTAL 48 214 1.1e-65 PFAM
START 240 445 4.43e-67 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000041218
Predicted Effect probably benign
Transcript: ENSMUST00000041301
SMART Domains Protein: ENSMUSP00000035549
Gene: ENSMUSG00000038216

DomainStartEndE-ValueType
Pfam:NNMT_PNMT_TEMT 25 290 1.2e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090827
SMART Domains Protein: ENSMUSP00000088337
Gene: ENSMUSG00000038208

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Per1 54 306 6.3e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154960
Meta Mutation Damage Score 0.0782 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit skeletal muscle atrophy, myopathy, increased muscle stiffness, and impaired coordination. Mice homozygous for another knock-out allele exhibit increased response to transverse aortic constriction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,359 (GRCm39) N90Y probably damaging Het
Alkal1 T C 1: 6,459,670 (GRCm39) V82A probably damaging Het
Ascc3 T C 10: 50,624,932 (GRCm39) S1607P probably benign Het
Ccny A T 18: 9,345,427 (GRCm39) L149H probably damaging Het
Clptm1 T C 7: 19,369,762 (GRCm39) N383D possibly damaging Het
Clrn2 T A 5: 45,621,074 (GRCm39) M156K probably benign Het
Coro2b T A 9: 62,333,910 (GRCm39) H328L probably benign Het
Echs1 A T 7: 139,688,055 (GRCm39) M250K probably benign Het
Ecsit A G 9: 21,985,981 (GRCm39) V145A possibly damaging Het
Fas G A 19: 34,293,969 (GRCm39) G108D probably damaging Het
Folh1 A G 7: 86,424,964 (GRCm39) W2R probably damaging Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Grik2 C T 10: 49,008,776 (GRCm39) M770I probably benign Het
Hcst T C 7: 30,117,250 (GRCm39) N74S probably damaging Het
Hdac9 T A 12: 34,481,990 (GRCm39) probably null Het
Hsfy2 T A 1: 56,676,150 (GRCm39) D129V probably damaging Het
Htt T C 5: 34,982,239 (GRCm39) V941A probably benign Het
Naip5 A G 13: 100,351,171 (GRCm39) V1279A possibly damaging Het
Neb T A 2: 52,170,624 (GRCm39) M1683L probably benign Het
Nudt21 C T 8: 94,746,282 (GRCm39) V139I probably benign Het
Or5e1 T C 7: 108,354,236 (GRCm39) Y58H probably damaging Het
Pex2 A G 3: 5,626,191 (GRCm39) F206S probably damaging Het
Plek2 C A 12: 78,943,065 (GRCm39) R77L probably benign Het
Ppfia1 A T 7: 144,059,942 (GRCm39) D623E possibly damaging Het
Ppm1l T A 3: 69,460,374 (GRCm39) I317N probably damaging Het
Prkacb T A 3: 146,461,479 (GRCm39) T36S probably damaging Het
Sphkap T A 1: 83,256,544 (GRCm39) I115F probably damaging Het
Sprtn G T 8: 125,625,873 (GRCm39) E95* probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Thada T C 17: 84,751,339 (GRCm39) I546V possibly damaging Het
Tubal3 T A 13: 3,983,107 (GRCm39) S296T probably benign Het
Ube3a A G 7: 58,936,772 (GRCm39) N683D probably damaging Het
Vmn2r82 T G 10: 79,214,871 (GRCm39) L285V possibly damaging Het
Zfp871 T C 17: 32,994,647 (GRCm39) D157G possibly damaging Het
Other mutations in Tcap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1845:Tcap UTSW 11 98,275,205 (GRCm39) missense probably damaging 1.00
R5902:Tcap UTSW 11 98,274,673 (GRCm39) start codon destroyed probably benign 0.00
R8252:Tcap UTSW 11 98,275,171 (GRCm39) missense probably benign 0.00
R8822:Tcap UTSW 11 98,275,264 (GRCm39) missense probably benign 0.01
R9161:Tcap UTSW 11 98,275,256 (GRCm39) missense probably damaging 0.99
R9750:Tcap UTSW 11 98,275,228 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCTGCTACATATCAGAGTACAAGC -3'
(R):5'- TTGTGATCTCAGCCACGTCC -3'

Sequencing Primer
(F):5'- GAGTACAAGCCCCTGAAGTTTCTG -3'
(R):5'- AAGCTGGATGGGGGTCTCC -3'
Posted On 2018-05-21