Incidental Mutation 'IGL02699:Tmem59'
ID304063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem59
Ensembl Gene ENSMUSG00000028618
Gene Nametransmembrane protein 59
Synonyms3110046P06Rik, thymic dendritic cell-derived factor 1, D4Ertd20e, 1110001M20Rik, MTDCF1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #IGL02699
Quality Score
Status
Chromosome4
Chromosomal Location107178399-107200996 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107192538 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 140 (M140T)
Ref Sequence ENSEMBL: ENSMUSP00000102364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030361] [ENSMUST00000106753] [ENSMUST00000128123] [ENSMUST00000154007]
Predicted Effect probably benign
Transcript: ENSMUST00000030361
AA Change: M207T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030361
Gene: ENSMUSG00000028618
AA Change: M207T

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:BSMAP 72 256 1.1e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106753
AA Change: M140T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102364
Gene: ENSMUSG00000028618
AA Change: M140T

DomainStartEndE-ValueType
Pfam:BSMAP 32 189 2.3e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127652
Predicted Effect probably benign
Transcript: ENSMUST00000128123
SMART Domains Protein: ENSMUSP00000120288
Gene: ENSMUSG00000028618

DomainStartEndE-ValueType
Pfam:BSMAP 18 127 1.7e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141013
Predicted Effect probably benign
Transcript: ENSMUST00000154007
SMART Domains Protein: ENSMUSP00000119701
Gene: ENSMUSG00000028618

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele display reduced dendritic arborization, reduced miniature excitatory postsynaptic currents, and impaired memory formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,322,019 D198G probably benign Het
Casq1 T C 1: 172,219,696 probably benign Het
Cd109 T A 9: 78,671,989 probably benign Het
Col15a1 T G 4: 47,284,471 probably benign Het
Ctdp1 T C 18: 80,450,185 D365G probably benign Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dalrd3 T A 9: 108,570,889 probably benign Het
Dnaaf5 T C 5: 139,153,350 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo8 A G 8: 56,590,188 T236A possibly damaging Het
Ighv1-12 C A 12: 114,616,116 E29* probably null Het
Il17re A G 6: 113,468,919 D397G probably damaging Het
Ing5 A G 1: 93,816,442 N157D possibly damaging Het
Ipo11 T C 13: 106,889,397 E395G possibly damaging Het
Letm1 T C 5: 33,745,148 E599G possibly damaging Het
Mansc1 T C 6: 134,610,354 T287A probably benign Het
Med1 T C 11: 98,180,025 N131D possibly damaging Het
Olfr1085 A T 2: 86,658,347 I37N probably benign Het
Olfr1337 G T 4: 118,782,152 C144* probably null Het
Olfr1341 T C 4: 118,710,198 S264P probably benign Het
Olfr769 T G 10: 129,111,771 Y218S probably benign Het
Osm T C 11: 4,239,723 V169A possibly damaging Het
Phkg2 C T 7: 127,582,550 A278V probably benign Het
Plod2 T A 9: 92,607,142 M709K probably damaging Het
Pzp A T 6: 128,487,401 probably null Het
Ric1 T C 19: 29,522,557 L12P possibly damaging Het
Skor1 C A 9: 63,140,046 probably benign Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Syncrip A G 9: 88,456,554 probably benign Het
Tex2 T C 11: 106,568,433 E57G possibly damaging Het
Tmc1 C T 19: 20,832,350 probably null Het
Ttn T C 2: 76,944,089 T2158A probably damaging Het
Other mutations in Tmem59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02663:Tmem59 APN 4 107197541 missense probably damaging 1.00
IGL02695:Tmem59 APN 4 107193314 missense probably benign 0.00
IGL02937:Tmem59 APN 4 107197585 missense probably damaging 1.00
R0945:Tmem59 UTSW 4 107187725 splice site probably benign
R2080:Tmem59 UTSW 4 107178774 missense probably damaging 0.99
R4621:Tmem59 UTSW 4 107190718 intron probably benign
R4622:Tmem59 UTSW 4 107190718 intron probably benign
R4623:Tmem59 UTSW 4 107190718 intron probably benign
R4819:Tmem59 UTSW 4 107187681 nonsense probably null
R5413:Tmem59 UTSW 4 107200462 missense probably benign 0.00
R5866:Tmem59 UTSW 4 107190557 missense probably damaging 0.99
R6073:Tmem59 UTSW 4 107193401 unclassified probably null
Posted On2015-04-16