Incidental Mutation 'IGL00824:Tmco3'
ID14481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmco3
Ensembl Gene ENSMUSG00000038497
Gene Nametransmembrane and coiled-coil domains 3
SynonymsB230339H12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00824
Quality Score
Status
Chromosome8
Chromosomal Location13288190-13322924 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13292825 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 187 (V187E)
Ref Sequence ENSEMBL: ENSMUSP00000040347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045229] [ENSMUST00000045366] [ENSMUST00000110838] [ENSMUST00000110839] [ENSMUST00000110840] [ENSMUST00000203467] [ENSMUST00000203604]
Predicted Effect probably damaging
Transcript: ENSMUST00000045229
AA Change: V187E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040347
Gene: ENSMUSG00000038497
AA Change: V187E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
coiled coil region 124 204 N/A INTRINSIC
Pfam:Na_H_Exchanger 274 662 9.2e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045366
SMART Domains Protein: ENSMUSP00000047208
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 51 1.5e-13 PFAM
Pfam:Cullin_binding 136 247 2.2e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110838
SMART Domains Protein: ENSMUSP00000106462
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 9.9e-14 PFAM
PDB:4GAO|G 62 173 3e-71 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000110839
SMART Domains Protein: ENSMUSP00000106463
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 1.1e-13 PFAM
Pfam:Cullin_binding 134 206 2.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110840
SMART Domains Protein: ENSMUSP00000106464
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 50 7.6e-14 PFAM
PDB:4GAO|G 62 199 6e-75 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000203467
SMART Domains Protein: ENSMUSP00000145399
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 51 7.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203604
SMART Domains Protein: ENSMUSP00000145430
Gene: ENSMUSG00000038506

DomainStartEndE-ValueType
Pfam:UBA_4 9 51 4.7e-11 PFAM
Pfam:Cullin_binding 136 213 1.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211645
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,683,589 I837V possibly damaging Het
Atl1 A G 12: 69,932,238 T147A probably damaging Het
Cdh17 A G 4: 11,784,675 K277R probably benign Het
Cyp2j5 A G 4: 96,663,923 F30L probably benign Het
Hmcn1 A T 1: 150,656,734 V3134E probably damaging Het
Il2ra T C 2: 11,683,099 V230A probably benign Het
Mgst2 C T 3: 51,682,578 P146S probably benign Het
Myrfl T C 10: 116,849,359 probably benign Het
Nat8f5 A C 6: 85,817,297 L227R probably damaging Het
Osbpl2 G A 2: 180,150,267 V255M probably benign Het
Papln A G 12: 83,770,436 S27G possibly damaging Het
Paqr7 A G 4: 134,506,967 Y45C probably damaging Het
Pkhd1 A G 1: 20,081,184 probably null Het
Plrg1 C T 3: 83,068,335 T295I probably damaging Het
Sypl T A 12: 32,965,506 probably benign Het
Trmt2b T C X: 134,267,405 I47M possibly damaging Het
Vmn2r61 T A 7: 42,267,014 N350K probably benign Het
Zfp687 A G 3: 95,009,185 L842P probably damaging Het
Other mutations in Tmco3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Tmco3 APN 8 13319887 missense possibly damaging 0.92
IGL02116:Tmco3 APN 8 13292706 unclassified probably benign
IGL03114:Tmco3 APN 8 13298205 splice site probably benign
Ganado UTSW 8 13292077 unclassified probably null
R0244:Tmco3 UTSW 8 13292037 missense probably damaging 1.00
R0385:Tmco3 UTSW 8 13296027 missense probably damaging 1.00
R0711:Tmco3 UTSW 8 13292039 missense probably damaging 0.96
R1594:Tmco3 UTSW 8 13292052 missense probably damaging 0.98
R1727:Tmco3 UTSW 8 13318866 missense possibly damaging 0.52
R1752:Tmco3 UTSW 8 13291741 missense probably benign
R2375:Tmco3 UTSW 8 13292059 missense possibly damaging 0.72
R2850:Tmco3 UTSW 8 13295024 missense probably benign 0.00
R3843:Tmco3 UTSW 8 13296114 splice site probably benign
R4003:Tmco3 UTSW 8 13291959 missense probably damaging 0.96
R4059:Tmco3 UTSW 8 13320848 missense probably benign 0.27
R5071:Tmco3 UTSW 8 13292860 nonsense probably null
R5072:Tmco3 UTSW 8 13292860 nonsense probably null
R5456:Tmco3 UTSW 8 13319815 missense probably damaging 0.96
R5556:Tmco3 UTSW 8 13294870 missense probably damaging 0.99
R5826:Tmco3 UTSW 8 13310314 missense probably damaging 0.99
R6200:Tmco3 UTSW 8 13292077 unclassified probably null
R6586:Tmco3 UTSW 8 13320894 utr 3 prime probably benign
R6858:Tmco3 UTSW 8 13313924 missense probably damaging 1.00
R6867:Tmco3 UTSW 8 13313927 missense probably damaging 1.00
R6944:Tmco3 UTSW 8 13303729 missense probably damaging 1.00
R7082:Tmco3 UTSW 8 13320847 nonsense probably null
R7192:Tmco3 UTSW 8 13319605 intron probably null
R7283:Tmco3 UTSW 8 13319605 intron probably null
R7285:Tmco3 UTSW 8 13319605 intron probably null
R7287:Tmco3 UTSW 8 13319605 intron probably null
R7314:Tmco3 UTSW 8 13319605 intron probably null
R7442:Tmco3 UTSW 8 13320781 missense probably damaging 1.00
R8084:Tmco3 UTSW 8 13303873 missense probably damaging 0.96
Posted On2012-12-06