Incidental Mutation 'IGL01785:Tmod4'
ID153785
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmod4
Ensembl Gene ENSMUSG00000005628
Gene Nametropomodulin 4
SynonymsMTMOD, skeletal tropomodulin, Sk-Tmod
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #IGL01785
Quality Score
Status
Chromosome3
Chromosomal Location95124476-95129209 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95125618 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 22 (T22A)
Ref Sequence ENSEMBL: ENSMUSP00000116341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005769] [ENSMUST00000009102] [ENSMUST00000107227] [ENSMUST00000131597] [ENSMUST00000172572] [ENSMUST00000173462]
Predicted Effect probably benign
Transcript: ENSMUST00000005769
AA Change: T22A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628
AA Change: T22A

DomainStartEndE-ValueType
Pfam:Tropomodulin 4 143 2.7e-62 PFAM
PDB:1IO0|A 160 343 6e-77 PDB
SCOP:d1a4ya_ 184 289 4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000009102
SMART Domains Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958

DomainStartEndE-ValueType
Pfam:YL1 5 216 5.1e-58 PFAM
low complexity region 247 264 N/A INTRINSIC
YL1_C 294 323 5.99e-9 SMART
low complexity region 335 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107227
AA Change: T22A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628
AA Change: T22A

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 144 4.4e-72 PFAM
PDB:1IO0|A 160 343 6e-77 PDB
SCOP:d1a4ya_ 184 289 4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130545
Predicted Effect probably benign
Transcript: ENSMUST00000131597
AA Change: T22A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628
AA Change: T22A

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 144 1.5e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149898
Predicted Effect probably benign
Transcript: ENSMUST00000172572
SMART Domains Protein: ENSMUSP00000134337
Gene: ENSMUSG00000092607

DomainStartEndE-ValueType
Pfam:zf-SCNM1 44 70 7.6e-19 PFAM
low complexity region 133 148 N/A INTRINSIC
low complexity region 172 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173462
SMART Domains Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607

DomainStartEndE-ValueType
Blast:ZnF_C2H2 42 68 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199730
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and exhibit no overt myopathy, with normal thin filament lengths, myofibril organization, and skeletal muscle contractile function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,915,058 Y309* probably null Het
Abhd18 G A 3: 40,905,904 R42Q probably damaging Het
Ano3 T A 2: 110,682,715 Q645L probably damaging Het
Clasp1 T A 1: 118,497,736 L272Q possibly damaging Het
Clec1b A G 6: 129,403,562 D115G probably damaging Het
Clec2e A T 6: 129,093,401 probably benign Het
Corin T C 5: 72,339,876 N532S probably damaging Het
Csn1s2b A G 5: 87,809,913 K2R possibly damaging Het
Mcm8 A G 2: 132,827,948 D314G probably benign Het
Mga T A 2: 119,902,912 D80E probably damaging Het
Msh4 A G 3: 153,857,507 L744P probably damaging Het
Myof A T 19: 37,980,423 L348* probably null Het
Olfr1348 T C 7: 6,501,900 I109V probably benign Het
Olfr530 T A 7: 140,373,125 M162L probably benign Het
Otud3 T C 4: 138,896,897 D278G probably benign Het
Pdpr C A 8: 111,129,656 H670Q probably damaging Het
Phf21b C A 15: 84,808,061 probably benign Het
Polr3a G A 14: 24,484,120 Q106* probably null Het
Ptprm G T 17: 66,685,623 N1366K probably damaging Het
Slc10a5 G A 3: 10,335,199 P134S probably benign Het
Slc30a9 A G 5: 67,346,238 probably benign Het
Stat6 T A 10: 127,657,227 V576D probably damaging Het
Tmem132d T C 5: 127,984,315 I408V probably benign Het
Tmem50a T C 4: 134,898,447 E153G probably damaging Het
Tmprss7 C T 16: 45,680,634 G268D probably damaging Het
Tor1a A G 2: 30,963,703 probably null Het
Ttc29 T C 8: 78,282,341 L280P probably damaging Het
Tusc5 G A 11: 76,680,466 V103I probably benign Het
Usp20 A G 2: 31,017,163 E594G probably benign Het
Vmn1r31 A C 6: 58,472,724 M3R possibly damaging Het
Other mutations in Tmod4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00851:Tmod4 APN 3 95125580 missense probably damaging 1.00
IGL01339:Tmod4 APN 3 95128297 missense probably benign 0.23
IGL02160:Tmod4 APN 3 95129113 unclassified probably benign
IGL02303:Tmod4 APN 3 95125642 missense probably benign 0.24
2107:Tmod4 UTSW 3 95130168 unclassified probably null
R0042:Tmod4 UTSW 3 95129788 missense possibly damaging 0.90
R1515:Tmod4 UTSW 3 95128679 missense possibly damaging 0.76
R4210:Tmod4 UTSW 3 95127829 missense probably benign 0.00
R4211:Tmod4 UTSW 3 95127829 missense probably benign 0.00
R6093:Tmod4 UTSW 3 95125618 missense probably benign
R6181:Tmod4 UTSW 3 95127807 missense probably damaging 1.00
R6294:Tmod4 UTSW 3 95128306 missense probably benign 0.05
R6351:Tmod4 UTSW 3 95127853 missense probably damaging 1.00
Posted On2014-02-04