Incidental Mutation 'R0042:Tmod4'
ID15691
Institutional Source Beutler Lab
Gene Symbol Tmod4
Ensembl Gene ENSMUSG00000005628
Gene Nametropomodulin 4
SynonymsMTMOD, skeletal tropomodulin, Sk-Tmod
MMRRC Submission 038336-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #R0042 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location95124476-95129209 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95129788 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 164 (D164G)
Ref Sequence ENSEMBL: ENSMUSP00000133769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005769] [ENSMUST00000066386] [ENSMUST00000107227] [ENSMUST00000131597] [ENSMUST00000172572] [ENSMUST00000173462]
Predicted Effect probably benign
Transcript: ENSMUST00000005769
SMART Domains Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628

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: ENSMUST00000066386
SMART Domains Protein: ENSMUSP00000067811
Gene: ENSMUSG00000053769

DomainStartEndE-ValueType
low complexity region 10 19 N/A INTRINSIC
LysM 41 85 2.58e-7 SMART
low complexity region 100 108 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107227
SMART Domains Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628

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: ENSMUST00000130545
Predicted Effect probably benign
Transcript: ENSMUST00000131597
SMART Domains Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628

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 possibly damaging
Transcript: ENSMUST00000173462
AA Change: D164G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607
AA Change: D164G

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
Meta Mutation Damage Score 0.166 question?
Coding Region Coverage
  • 1x: 81.9%
  • 3x: 73.7%
  • 10x: 53.7%
  • 20x: 34.5%
Validation Efficiency 94% (58/62)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930017K11Rik C A 17: 25,947,982 E194* probably null Het
Abca1 C T 4: 53,059,245 probably benign Het
Adgrf3 A G 5: 30,197,428 L534P probably damaging Het
Ank2 T C 3: 126,936,631 D3568G probably damaging Het
Atr T A 9: 95,927,356 probably benign Het
Ccnb2 A G 9: 70,419,053 V34A probably benign Het
Dmxl1 C A 18: 49,864,035 T466K probably benign Het
Eya1 T C 1: 14,184,489 D373G probably damaging Het
Fam120a A G 13: 48,934,014 V290A probably damaging Het
Gpr179 C T 11: 97,334,931 V2133I probably benign Het
Grb10 G T 11: 11,936,798 H435Q probably damaging Het
Gzmm T C 10: 79,694,565 I190T probably benign Het
H2-Q3 A G 17: 35,359,847 noncoding transcript Het
Hspb7 A G 4: 141,423,934 E129G probably damaging Het
Il17ra T C 6: 120,472,125 probably benign Het
Itgb3 A G 11: 104,667,140 T787A possibly damaging Het
Krt4 T G 15: 101,922,752 probably benign Het
Lgsn C T 1: 31,190,453 T85I probably benign Het
Metap1 C T 3: 138,472,157 V217I probably benign Het
Mib2 A T 4: 155,659,440 C48* probably null Het
Mroh4 T A 15: 74,610,305 I768F probably damaging Het
Npas3 T A 12: 54,048,841 D361E probably damaging Het
P4hb G A 11: 120,568,266 R134C probably damaging Het
Rbl1 A G 2: 157,175,704 probably benign Het
Rdh10 T A 1: 16,108,036 probably benign Het
Spata31 A T 13: 64,922,563 I842L probably benign Het
Stk32b A C 5: 37,716,748 D13E probably benign Het
Svep1 T C 4: 58,123,192 D708G possibly damaging Het
Taar6 T C 10: 23,985,123 D175G probably benign Het
Ttc23l A C 15: 10,551,541 L33W probably damaging Het
Ttc39d T C 17: 80,215,950 Y13H probably benign Het
Utp18 G T 11: 93,875,858 T309K probably damaging Het
Vps11 G T 9: 44,356,291 Y341* probably null Het
Vsig8 T C 1: 172,560,358 V5A 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
IGL01785:Tmod4 APN 3 95125618 missense probably benign
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
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 On2012-12-21