Incidental Mutation 'R4819:Tmem59'
ID 370042
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 042000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R4819 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 107035827-107058193 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 107044878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 66 (Q66*)
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
AA Change: Q120*
SMART Domains Protein: ENSMUSP00000030361
Gene: ENSMUSG00000028618
AA Change: Q120*

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 noncoding transcript
Transcript: ENSMUST00000127652
Predicted Effect probably null
Transcript: ENSMUST00000128123
AA Change: Q66*
SMART Domains Protein: ENSMUSP00000120288
Gene: ENSMUSG00000028618
AA Change: Q66*

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

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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
Abca13 T A 11: 9,240,421 (GRCm39) N761K possibly damaging Het
Adgrf3 T A 5: 30,403,442 (GRCm39) L444F possibly damaging Het
Akap8 G A 17: 32,531,279 (GRCm39) R378W probably damaging Het
Amotl2 C T 9: 102,607,270 (GRCm39) R693W probably damaging Het
As3mt G T 19: 46,695,968 (GRCm39) probably benign Het
Atp6v1e2 A G 17: 87,251,966 (GRCm39) V144A probably benign Het
Bfar C T 16: 13,505,331 (GRCm39) Q114* probably null Het
Casd1 C T 6: 4,621,225 (GRCm39) A261V probably damaging Het
Cd177 A T 7: 24,451,696 (GRCm39) I440K probably damaging Het
Cfap54 G T 10: 92,672,339 (GRCm39) Y2910* probably null Het
Csl A G 10: 99,593,944 (GRCm39) F374L possibly damaging Het
Dctn1 G A 6: 83,167,501 (GRCm39) R275H probably damaging Het
Derl3 A G 10: 75,729,713 (GRCm39) probably null Het
Dst A G 1: 34,007,916 (GRCm39) I117V probably benign Het
Edc3 T A 9: 57,655,680 (GRCm39) C477S possibly damaging Het
Efs T C 14: 55,154,610 (GRCm39) E450G probably damaging Het
Fcrla T A 1: 170,748,508 (GRCm39) I212F probably damaging Het
Fsip2 A G 2: 82,818,786 (GRCm39) I4840V probably benign Het
Gpam T A 19: 55,066,773 (GRCm39) I581F probably benign Het
Greb1l A G 18: 10,458,358 (GRCm39) D45G probably damaging Het
Heca A G 10: 17,783,820 (GRCm39) Y478H probably damaging Het
Hspa9 C T 18: 35,072,441 (GRCm39) M561I probably damaging Het
Hyal6 T A 6: 24,734,965 (GRCm39) Y299* probably null Het
Iho1 A G 9: 108,283,877 (GRCm39) V189A probably benign Het
Ik T A 18: 36,886,310 (GRCm39) probably null Het
Khsrp A G 17: 57,330,360 (GRCm39) S582P possibly damaging Het
Kif18a A G 2: 109,122,471 (GRCm39) D182G probably damaging Het
Krt1c T C 15: 101,719,979 (GRCm39) T564A unknown Het
Lig4 A G 8: 10,021,885 (GRCm39) S632P probably benign Het
Med1 C T 11: 98,046,258 (GRCm39) probably benign Het
Mgat3 T A 15: 80,096,550 (GRCm39) I459N probably damaging Het
Mkln1 A T 6: 31,451,421 (GRCm39) Q454L probably benign Het
Mn1 A G 5: 111,567,803 (GRCm39) E591G possibly damaging Het
Myo5c T A 9: 75,199,484 (GRCm39) L1364Q probably damaging Het
Oas1d T C 5: 121,053,780 (GRCm39) V80A probably damaging Het
Obscn A T 11: 58,929,674 (GRCm39) D5180E probably damaging Het
Pax6 G A 2: 105,522,622 (GRCm39) probably null Het
Pcdh15 A C 10: 74,160,221 (GRCm39) N446T probably damaging Het
Pcnx2 A T 8: 126,581,969 (GRCm39) F922L probably benign Het
Ptpn4 G T 1: 119,587,580 (GRCm39) T921K probably benign Het
Selenov A G 7: 27,989,746 (GRCm39) probably null Het
Tmem100 A G 11: 89,926,271 (GRCm39) T33A probably benign Het
Trav21-dv12 T A 14: 54,114,070 (GRCm39) Y63* probably null Het
Trim66 G T 7: 109,056,793 (GRCm39) H1121Q probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Ttc17 G A 2: 94,194,955 (GRCm39) P520L probably damaging Het
Ttn A T 2: 76,622,093 (GRCm39) V15483E probably damaging Het
Vinac1 G T 2: 128,882,721 (GRCm39) N98K probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfhx4 C A 3: 5,468,974 (GRCm39) T3069K probably benign Het
Zfp281 A G 1: 136,553,448 (GRCm39) H142R probably benign Het
Zfp462 G T 4: 55,060,044 (GRCm39) R1190L probably damaging Het
Zfp935 T A 13: 62,602,231 (GRCm39) H323L probably 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
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
Predicted Primers PCR Primer
(F):5'- GACATTGGACTTGTAGGCGAG -3'
(R):5'- TCCATCTGCAAACATAATGCTG -3'

Sequencing Primer
(F):5'- AAGTCTGGCTGCTCACGGAG -3'
(R):5'- CTGCAAACATAATGCTGATGAATGG -3'
Posted On 2016-02-04