Incidental Mutation 'IGL00740:Tmco1'
ID14480
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 #IGL00740
Quality Score
Status
Chromosome1
Chromosomal Location167308378-167333978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 167316268 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 89 (N89K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097473] [ENSMUST00000195015]
Predicted Effect probably benign
Transcript: ENSMUST00000097473
AA Change: N78K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095081
Gene: ENSMUSG00000052428
AA Change: N78K

DomainStartEndE-ValueType
Pfam:DUF106 3 166 6.4e-47 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000193101
AA Change: N18K
Predicted Effect probably damaging
Transcript: ENSMUST00000193446
AA Change: N89K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000195015
AA Change: N78K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142042
Gene: ENSMUSG00000052428
AA Change: N78K

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: 9 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btn2a2 T C 13: 23,478,485 I423V probably benign Het
Cngb3 A T 4: 19,280,956 K8N probably damaging Het
Dmxl1 T G 18: 49,917,668 D2454E probably benign Het
Gm597 A G 1: 28,778,651 L100P possibly damaging Het
Hif3a A T 7: 17,051,916 probably null Het
Muc5b C A 7: 141,855,598 Q1140K unknown Het
Sfswap T A 5: 129,513,233 Y265N probably damaging Het
Susd2 A T 10: 75,638,048 M571K probably benign Het
Ttc7b G A 12: 100,376,213 A518V probably benign Het
Other mutations in Tmco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02619:Tmco1 APN 1 167326028 splice site probably benign
IGL03093:Tmco1 APN 1 167316279 missense probably damaging 1.00
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
Posted On2012-12-06