Incidental Mutation 'IGL03093:Tmco1'
ID418440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmco1
Ensembl Gene ENSMUSG00000052428
Gene Nametransmembrane and coiled-coil domains 1
SynonymsESTM39, 4930403O06Rik, 1190006A08Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03093
Quality Score
Status
Chromosome1
Chromosomal Location167308378-167333978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 167316279 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 82 (D82G)
Ref Sequence ENSEMBL: ENSMUSP00000142042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097473] [ENSMUST00000195015]
Predicted Effect probably damaging
Transcript: ENSMUST00000097473
AA Change: D82G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095081
Gene: ENSMUSG00000052428
AA Change: D82G

DomainStartEndE-ValueType
Pfam:DUF106 3 166 6.4e-47 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000193101
AA Change: D22G
Predicted Effect unknown
Transcript: ENSMUST00000193446
AA Change: D93G
Predicted Effect probably damaging
Transcript: ENSMUST00000195015
AA Change: D82G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142042
Gene: ENSMUSG00000052428
AA Change: D82G

DomainStartEndE-ValueType
Pfam:DUF106 3 166 2.7e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality, postnatal growth retardation, delayed osteogenesis, craniofacial anomalies, enlarged brain ventricles, impaired coordination and spatial recognition memory, abnormal calcium ion homeostasis, and decreased survivor rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,231,207 D121G probably damaging Het
Cacna1s A G 1: 136,116,064 D1380G probably benign Het
Clca3a1 T C 3: 144,747,501 Y487C probably damaging Het
Coro2a A G 4: 46,544,158 S278P possibly damaging Het
Creb3l3 A G 10: 81,091,213 S128P probably benign Het
Dab2 A G 15: 6,436,411 R697G probably damaging Het
Erap1 T C 13: 74,675,280 F811S probably benign Het
Fam170b A G 14: 32,835,525 S106G probably damaging Het
Galk2 T C 2: 125,929,643 L196P probably damaging Het
Gan T C 8: 117,183,575 M81T probably benign Het
Gemin2 A G 12: 59,021,725 T197A probably benign Het
Hemgn A T 4: 46,396,504 M244K probably benign Het
Htr6 A G 4: 139,061,769 F325S probably damaging Het
Igkv9-120 A G 6: 68,050,414 D104G probably damaging Het
Itpr2 A C 6: 146,379,510 I216S probably damaging Het
Lingo1 T C 9: 56,619,464 I614V possibly damaging Het
Mep1b C T 18: 21,093,653 T524M probably benign Het
Mtif2 A G 11: 29,530,702 probably benign Het
Mylk G A 16: 34,912,192 R614H possibly damaging Het
Olfr601 T C 7: 103,358,239 probably benign Het
Olfr706 T C 7: 106,886,203 T205A probably benign Het
Pabpc4 G A 4: 123,286,709 D75N probably damaging Het
Paics T A 5: 76,961,508 probably null Het
Prl T A 13: 27,064,887 I172N probably benign Het
Ripk2 A G 4: 16,152,056 S168P probably damaging Het
Siglecf T C 7: 43,352,441 V225A probably damaging Het
Slc36a1 A G 11: 55,219,604 I86V probably benign Het
Slc6a13 A G 6: 121,332,448 Y306C probably damaging Het
Soat2 T A 15: 102,157,643 L250Q probably damaging Het
Tex38 A G 4: 115,780,565 S14P probably damaging Het
Tm2d1 A T 4: 98,380,684 C59S possibly damaging Het
Tmem245 G A 4: 56,886,019 R866W probably damaging Het
Tnip1 G T 11: 54,940,826 Y7* probably null Het
Trp73 A G 4: 154,104,873 M48T probably benign Het
Tslp T C 18: 32,815,559 probably benign Het
Usp47 T C 7: 112,089,620 F745L probably damaging Het
Vmn2r53 T A 7: 12,600,864 T290S probably benign Het
Wdr1 T C 5: 38,561,129 D30G probably benign Het
Zkscan2 T C 7: 123,494,850 Y247C probably benign Het
Other mutations in Tmco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Tmco1 APN 1 167316268 missense probably damaging 1.00
IGL02619:Tmco1 APN 1 167326028 splice site probably benign
R0317:Tmco1 UTSW 1 167325893 missense probably damaging 0.96
R1704:Tmco1 UTSW 1 167325937 missense possibly damaging 0.64
R7144:Tmco1 UTSW 1 167308453 start gained probably benign
R7540:Tmco1 UTSW 1 167326003 missense
Posted On2016-08-02