Incidental Mutation 'IGL02937:Tmem59'
ID 364353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem59
Ensembl Gene ENSMUSG00000028618
Gene Name transmembrane protein 59
Synonyms 1110001M20Rik, 3110046P06Rik, D4Ertd20e, MTDCF1, thymic dendritic cell-derived factor 1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL02937
Quality Score
Status
Chromosome 4
Chromosomal Location 107035827-107058193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107054782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 196 (T196S)
Ref Sequence ENSEMBL: ENSMUSP00000102364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030361] [ENSMUST00000106753] [ENSMUST00000154007]
AlphaFold Q9QY73
Predicted Effect probably damaging
Transcript: ENSMUST00000030361
AA Change: T263S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030361
Gene: ENSMUSG00000028618
AA Change: T263S

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:BSMAP 72 256 1.1e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106753
AA Change: T196S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102364
Gene: ENSMUSG00000028618
AA Change: T196S

DomainStartEndE-ValueType
Pfam:BSMAP 32 189 2.3e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127652
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,206,049 (GRCm39) C21Y probably damaging Het
4933427D06Rik T C 6: 89,085,127 (GRCm39) noncoding transcript Het
5730480H06Rik A G 5: 48,536,783 (GRCm39) I160V probably benign Het
Arhgap29 G A 3: 121,767,698 (GRCm39) E47K probably damaging Het
Arhgef12 T A 9: 42,927,216 (GRCm39) S303C probably damaging Het
Bap1 A G 14: 30,980,284 (GRCm39) N644S probably benign Het
Cc2d1b A G 4: 108,489,091 (GRCm39) E796G probably damaging Het
Cfh C A 1: 140,033,180 (GRCm39) R788L probably benign Het
Cldn1 A G 16: 26,179,623 (GRCm39) F148S probably damaging Het
Cryzl1 A G 16: 91,487,619 (GRCm39) M292T possibly damaging Het
Cyp11b1 T C 15: 74,708,408 (GRCm39) R385G possibly damaging Het
Cyp4f37 T C 17: 32,844,163 (GRCm39) L89P probably benign Het
Dach1 A G 14: 98,153,231 (GRCm39) probably null Het
Dhtkd1 A G 2: 5,922,716 (GRCm39) I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 (GRCm39) D44E probably damaging Het
Dsg1a T A 18: 20,464,591 (GRCm39) I362N possibly damaging Het
Ecm2 T A 13: 49,671,952 (GRCm39) I151N probably damaging Het
Far1 T A 7: 113,139,855 (GRCm39) I101N probably damaging Het
Gm21985 T C 2: 112,172,207 (GRCm39) S384P probably benign Het
Gnb5 T C 9: 75,247,471 (GRCm39) Y247H probably damaging Het
Golgb1 A G 16: 36,736,572 (GRCm39) K1940E probably damaging Het
Gprc5b A G 7: 118,583,017 (GRCm39) V284A probably benign Het
Idh2 T C 7: 79,748,661 (GRCm39) Y179C probably damaging Het
Kalrn G A 16: 34,040,500 (GRCm39) Q737* probably null Het
Kcnj13 T C 1: 87,314,175 (GRCm39) D349G probably damaging Het
Lgsn A T 1: 31,243,318 (GRCm39) T467S possibly damaging Het
Map9 T A 3: 82,270,819 (GRCm39) S128T possibly damaging Het
Mroh5 A G 15: 73,661,827 (GRCm39) C455R probably damaging Het
Nes A G 3: 87,887,186 (GRCm39) H1771R probably benign Het
Nkain2 T C 10: 32,205,840 (GRCm39) Y65C probably damaging Het
Or51a43 T A 7: 103,718,056 (GRCm39) M61L probably damaging Het
Or51b6b A T 7: 103,310,112 (GRCm39) V115D probably damaging Het
Or6aa1 T C 7: 86,043,798 (GRCm39) K303E possibly damaging Het
Pabpc4l A C 3: 46,400,725 (GRCm39) D306E probably benign Het
Parp12 A T 6: 39,079,515 (GRCm39) Y332N probably damaging Het
Parvb A T 15: 84,193,154 (GRCm39) K316M probably damaging Het
Pde8a T A 7: 80,945,519 (GRCm39) probably benign Het
Polq A G 16: 36,833,471 (GRCm39) T55A probably benign Het
Ppp2r5b T A 19: 6,281,016 (GRCm39) K271M probably damaging Het
Ralgapb A G 2: 158,334,936 (GRCm39) probably null Het
Rigi C T 4: 40,229,661 (GRCm39) C86Y probably benign Het
Skap2 T C 6: 51,886,351 (GRCm39) N175D probably benign Het
Slc44a3 A G 3: 121,303,970 (GRCm39) probably benign Het
Smurf2 G A 11: 106,736,873 (GRCm39) H318Y probably damaging Het
Tbc1d23 T C 16: 57,004,778 (GRCm39) T460A possibly damaging Het
Tcerg1 T C 18: 42,657,414 (GRCm39) S299P unknown Het
Tll1 A C 8: 64,658,319 (GRCm39) Y33* probably null Het
Ttll4 C A 1: 74,718,662 (GRCm39) A171D possibly damaging Het
Ttn T C 2: 76,641,513 (GRCm39) T13528A possibly damaging Het
Ttn A G 2: 76,717,621 (GRCm39) probably benign Het
Xpc C A 6: 91,477,119 (GRCm39) G327W probably damaging Het
Zbtb7a A G 10: 80,980,132 (GRCm39) S109G probably benign Het
Zfyve26 T C 12: 79,285,794 (GRCm39) M2328V probably benign Het
Other mutations in Tmem59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02663:Tmem59 APN 4 107,054,738 (GRCm39) missense probably damaging 1.00
IGL02695:Tmem59 APN 4 107,050,511 (GRCm39) missense probably benign 0.00
IGL02699:Tmem59 APN 4 107,049,735 (GRCm39) missense probably benign 0.01
R0945:Tmem59 UTSW 4 107,044,922 (GRCm39) splice site probably benign
R2080:Tmem59 UTSW 4 107,035,971 (GRCm39) missense probably damaging 0.99
R4621:Tmem59 UTSW 4 107,047,915 (GRCm39) intron probably benign
R4622:Tmem59 UTSW 4 107,047,915 (GRCm39) intron probably benign
R4623:Tmem59 UTSW 4 107,047,915 (GRCm39) intron probably benign
R4819:Tmem59 UTSW 4 107,044,878 (GRCm39) nonsense probably null
R5413:Tmem59 UTSW 4 107,057,659 (GRCm39) missense probably benign 0.00
R5866:Tmem59 UTSW 4 107,047,754 (GRCm39) missense probably damaging 0.99
R6073:Tmem59 UTSW 4 107,050,598 (GRCm39) splice site probably null
R8534:Tmem59 UTSW 4 107,043,082 (GRCm39) critical splice donor site probably null
R9727:Tmem59 UTSW 4 107,050,547 (GRCm39) missense probably benign 0.01
RF031:Tmem59 UTSW 4 107,047,729 (GRCm39) critical splice acceptor site probably benign
RF033:Tmem59 UTSW 4 107,047,725 (GRCm39) critical splice acceptor site probably benign
RF035:Tmem59 UTSW 4 107,047,729 (GRCm39) critical splice acceptor site probably benign
RF040:Tmem59 UTSW 4 107,047,723 (GRCm39) critical splice acceptor site probably benign
RF041:Tmem59 UTSW 4 107,047,729 (GRCm39) critical splice acceptor site probably benign
RF044:Tmem59 UTSW 4 107,047,729 (GRCm39) critical splice acceptor site probably benign
RF060:Tmem59 UTSW 4 107,047,723 (GRCm39) critical splice acceptor site probably benign
Posted On 2015-12-18