Incidental Mutation 'R8534:Tmem59'
ID 659144
Institutional Source Beutler Lab
Gene Symbol Tmem59
Ensembl Gene ENSMUSG00000028618
Gene Name transmembrane protein 59
Synonyms 1110001M20Rik, 3110046P06Rik, D4Ertd20e, MTDCF1, thymic dendritic cell-derived factor 1
MMRRC Submission 068503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R8534 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 107035827-107058193 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 107043082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030361] [ENSMUST00000106753] [ENSMUST00000128123] [ENSMUST00000154007]
AlphaFold Q9QY73
Predicted Effect probably null
Transcript: ENSMUST00000030361
SMART Domains Protein: ENSMUSP00000030361
Gene: ENSMUSG00000028618

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:BSMAP 72 256 1.1e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106753
SMART Domains Protein: ENSMUSP00000102364
Gene: ENSMUSG00000028618

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

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

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A C 2: 19,545,153 (GRCm39) L100R probably damaging Het
6820408C15Rik A G 2: 152,283,182 (GRCm39) D282G probably damaging Het
Abcb11 G T 2: 69,154,190 (GRCm39) N125K possibly damaging Het
Acbd7 A T 2: 3,341,750 (GRCm39) D71V probably damaging Het
Adgrb1 A T 15: 74,415,357 (GRCm39) T646S probably damaging Het
Adgrv1 A G 13: 81,534,887 (GRCm39) Y5793H probably benign Het
Agmo A G 12: 37,302,538 (GRCm39) D125G probably damaging Het
Ahrr A G 13: 74,368,799 (GRCm39) S125P probably damaging Het
B020011L13Rik C A 1: 117,729,034 (GRCm39) H180Q probably benign Het
Cbfa2t3 T C 8: 123,365,653 (GRCm39) D219G probably damaging Het
Ccdc187 A G 2: 26,165,577 (GRCm39) S860P possibly damaging Het
Ceacam5 A T 7: 17,484,671 (GRCm39) Q471L probably benign Het
Cyp2c54 A C 19: 40,036,030 (GRCm39) D293E probably damaging Het
Dnah1 G T 14: 31,023,805 (GRCm39) N962K probably benign Het
Dst C T 1: 34,229,388 (GRCm39) T2002I probably benign Het
Elavl1 A T 8: 4,339,864 (GRCm39) N239K probably benign Het
Elmod3 A G 6: 72,543,667 (GRCm39) F375L probably benign Het
G6pc2 T A 2: 69,050,469 (GRCm39) N31K probably benign Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gm6569 G T 15: 73,711,673 (GRCm39) probably benign Het
Insig1 C T 5: 28,280,116 (GRCm39) S236L probably damaging Het
Itih4 A T 14: 30,622,979 (GRCm39) N882I probably benign Het
Kmt5a C A 5: 124,598,635 (GRCm39) D309E probably benign Het
Kndc1 C A 7: 139,503,669 (GRCm39) T991N probably benign Het
Lingo1 T A 9: 56,528,353 (GRCm39) T79S probably benign Het
Myh4 A T 11: 67,134,335 (GRCm39) E330V probably benign Het
Nlrx1 A G 9: 44,174,070 (GRCm39) V377A probably benign Het
Npy5r C A 8: 67,134,688 (GRCm39) G35V probably benign Het
Or5b102 T A 19: 13,041,432 (GRCm39) I219N probably damaging Het
Or7g33 C T 9: 19,448,605 (GRCm39) G207D possibly damaging Het
Pabpn1l T C 8: 123,349,358 (GRCm39) T20A probably benign Het
Pcf11 A G 7: 92,302,432 (GRCm39) V1226A probably benign Het
Per2 G A 1: 91,351,659 (GRCm39) T949M probably benign Het
Phc1 G A 6: 122,315,539 (GRCm39) probably benign Het
Pias2 A G 18: 77,185,083 (GRCm39) I55V possibly damaging Het
Pik3r2 A T 8: 71,227,312 (GRCm39) S104T probably benign Het
Pip T C 6: 41,828,421 (GRCm39) V85A probably benign Het
Pms2 T C 5: 143,860,445 (GRCm39) V86A probably benign Het
Potefam1 G A 2: 111,058,380 (GRCm39) P138S possibly damaging Het
Rab44 A G 17: 29,363,547 (GRCm39) probably null Het
Rrbp1 A G 2: 143,830,095 (GRCm39) S691P probably damaging Het
Ruvbl2 A T 7: 45,079,118 (GRCm39) probably null Het
Setbp1 T C 18: 78,826,542 (GRCm39) D1357G possibly damaging Het
Slc12a6 T A 2: 112,174,312 (GRCm39) I476N probably damaging Het
Slc1a1 C T 19: 28,882,746 (GRCm39) P337S probably damaging Het
Slc35b3 T A 13: 39,128,566 (GRCm39) T174S probably benign Het
Slc4a4 A T 5: 89,283,581 (GRCm39) I467F probably damaging Het
Slc50a1 G A 3: 89,177,710 (GRCm39) probably null Het
Spink14 G A 18: 44,164,079 (GRCm39) probably null Het
Spmap2l T A 5: 77,207,325 (GRCm39) I361N probably damaging Het
Tnr G A 1: 159,746,585 (GRCm39) E1235K probably benign Het
Trpm6 A T 19: 18,869,459 (GRCm39) R2015S probably benign Het
Tsnaxip1 A G 8: 106,565,370 (GRCm39) E132G probably damaging Het
Vps54 A G 11: 21,227,706 (GRCm39) N93S probably benign Het
Wdr17 T G 8: 55,101,265 (GRCm39) I994L probably benign Het
Zfat G T 15: 68,037,696 (GRCm39) H926Q probably damaging Het
Zfp2 C T 11: 50,791,627 (GRCm39) E139K possibly damaging 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
IGL02937:Tmem59 APN 4 107,054,782 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTGTGAGAGACCACGTCTATG -3'
(R):5'- ACAGATGGATTAAAGCCAATGCC -3'

Sequencing Primer
(F):5'- AACAAACACTTAACTCTGCTTTCTTC -3'
(R):5'- AGCCAATGCCATTTTTAGCAGC -3'
Posted On 2021-01-18