Incidental Mutation 'R8054:Tmem123'
ID 619267
Institutional Source Beutler Lab
Gene Symbol Tmem123
Ensembl Gene ENSMUSG00000050912
Gene Name transmembrane protein 123
Synonyms 2310075C12Rik
MMRRC Submission 067491-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R8054 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 7764078-7794334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7791064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 122 (S122P)
Ref Sequence ENSEMBL: ENSMUSP00000051966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052865] [ENSMUST00000136904] [ENSMUST00000154371]
AlphaFold Q91Z22
Predicted Effect possibly damaging
Transcript: ENSMUST00000052865
AA Change: S122P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051966
Gene: ENSMUSG00000050912
AA Change: S122P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MGC-24 92 182 7.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136904
SMART Domains Protein: ENSMUSP00000117742
Gene: ENSMUSG00000050912

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154371
SMART Domains Protein: ENSMUSP00000120727
Gene: ENSMUSG00000050912

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 47 60 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no abnormal phenotype as revealed by limited studies of T cell activation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,874,272 (GRCm39) N399S probably benign Het
Akap9 T C 5: 4,088,707 (GRCm39) probably null Het
Ankrd17 A G 5: 90,438,914 (GRCm39) I483T probably benign Het
Arl13b T C 16: 62,626,960 (GRCm39) D247G probably benign Het
Brca2 A G 5: 150,459,969 (GRCm39) I415V probably benign Het
Brpf3 C A 17: 29,055,571 (GRCm39) S1173R probably damaging Het
Cby2 A G 14: 75,821,339 (GRCm39) Y129H probably benign Het
Ccar1 A G 10: 62,583,215 (GRCm39) L966P unknown Het
Cfap61 A G 2: 145,815,438 (GRCm39) N249S probably damaging Het
Clip4 T A 17: 72,141,268 (GRCm39) Y541N possibly damaging Het
Csn2 C T 5: 87,845,886 (GRCm39) probably null Het
Cyp2c23 T G 19: 43,995,555 (GRCm39) E404A probably damaging Het
Cyp2e1 A G 7: 140,350,871 (GRCm39) E281G possibly damaging Het
Cyp2r1 T A 7: 114,151,319 (GRCm39) probably null Het
D430041D05Rik T A 2: 103,985,390 (GRCm39) I1226F possibly damaging Het
Dbx1 A T 7: 49,282,498 (GRCm39) W236R probably damaging Het
Dcp2 T G 18: 44,538,774 (GRCm39) N251K probably benign Het
Disp1 A T 1: 182,869,812 (GRCm39) Y869* probably null Het
Dnajc8 T A 4: 132,272,068 (GRCm39) probably benign Het
Efcab3 A G 11: 104,621,226 (GRCm39) N822D probably benign Het
Ehhadh A G 16: 21,592,243 (GRCm39) probably null Het
Eml3 A T 19: 8,916,414 (GRCm39) T670S possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 A T 2: 125,187,938 (GRCm39) D1530E possibly damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Hsd3b3 A T 3: 98,649,331 (GRCm39) Y331N probably damaging Het
Ino80d T C 1: 63,097,837 (GRCm39) R791G possibly damaging Het
Itprid1 A T 6: 55,953,424 (GRCm39) K913N probably damaging Het
Jade2 T C 11: 51,709,441 (GRCm39) R523G probably benign Het
Kmt2d A T 15: 98,741,806 (GRCm39) D4451E unknown Het
Lax1 T C 1: 133,611,345 (GRCm39) T76A probably benign Het
Map4k1 A G 7: 28,689,181 (GRCm39) probably benign Het
Mcu G A 10: 59,290,817 (GRCm39) T121M probably damaging Het
Mepce T A 5: 137,783,004 (GRCm39) K441* probably null Het
Mettl21e C A 1: 44,245,815 (GRCm39) V144F probably damaging Het
Muc6 T A 7: 141,231,748 (GRCm39) S1049C probably damaging Het
Myh14 C T 7: 44,274,551 (GRCm39) V1246M probably damaging Het
Myo3a A T 2: 22,464,329 (GRCm39) Q1128L probably benign Het
Nat8f2 T C 6: 85,844,754 (GRCm39) S203G probably benign Het
Npas2 A G 1: 39,326,652 (GRCm39) T46A possibly damaging Het
Nup133 T C 8: 124,675,956 (GRCm39) probably benign Het
Oplah C T 15: 76,190,457 (GRCm39) R102H probably benign Het
Or1x6 T A 11: 50,939,090 (GRCm39) I52N probably benign Het
Or2b6 A T 13: 21,823,119 (GRCm39) D191E probably benign Het
Or5g29 A T 2: 85,421,184 (GRCm39) Q100L probably damaging Het
Or6d13 A G 6: 116,517,960 (GRCm39) H182R probably damaging Het
Or8g20 C A 9: 39,396,033 (GRCm39) C172F probably damaging Het
Osgep C T 14: 51,162,128 (GRCm39) probably benign Het
Pam A T 1: 97,768,114 (GRCm39) D705E probably damaging Het
Pkd1l3 C G 8: 110,373,008 (GRCm39) N1284K probably damaging Het
Plekhg2 A G 7: 28,064,741 (GRCm39) F407S probably damaging Het
Pygl A G 12: 70,274,113 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rhobtb1 A G 10: 69,084,720 (GRCm39) N37S probably damaging Het
Sema6a T A 18: 47,424,972 (GRCm39) D213V probably damaging Het
Skint11 A T 4: 114,101,806 (GRCm39) Q273L possibly damaging Het
Skint7 A T 4: 111,839,426 (GRCm39) H240L probably benign Het
Slc12a2 C T 18: 58,054,944 (GRCm39) Q862* probably null Het
Smox A G 2: 131,364,100 (GRCm39) S468G probably benign Het
Spc25 A G 2: 69,035,257 (GRCm39) S50P probably damaging Het
Srrm1 A T 4: 135,052,326 (GRCm39) S683T unknown Het
Syne1 T C 10: 5,220,970 (GRCm39) E3103G probably benign Het
Tenm4 C A 7: 96,378,553 (GRCm39) probably benign Het
Tent4b T A 8: 88,974,186 (GRCm39) I294N probably damaging Het
Trav18 A T 14: 54,068,572 (GRCm39) K4I probably benign Het
Triml1 T C 8: 43,583,420 (GRCm39) S394G probably damaging Het
Ubr4 A T 4: 139,195,413 (GRCm39) S1212C unknown Het
Usp34 G A 11: 23,311,295 (GRCm39) R442Q Het
Usp43 G A 11: 67,782,284 (GRCm39) P378L probably damaging Het
Vmn1r212 A G 13: 23,067,935 (GRCm39) F133L probably benign Het
Vmn1r213 A G 13: 23,195,910 (GRCm39) I164M possibly damaging Het
Vmn2r19 C T 6: 123,292,998 (GRCm39) P347S probably damaging Het
Zfp106 A T 2: 120,355,000 (GRCm39) V1280E possibly damaging Het
Zfp317 T C 9: 19,553,265 (GRCm39) S13P probably benign Het
Zfp608 C A 18: 55,032,618 (GRCm39) A441S probably benign Het
Zup1 T C 10: 33,816,248 (GRCm39) D232G probably damaging Het
Other mutations in Tmem123
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1389:Tmem123 UTSW 9 7,791,107 (GRCm39) missense probably damaging 0.98
R4630:Tmem123 UTSW 9 7,791,393 (GRCm39) missense probably damaging 0.99
R6996:Tmem123 UTSW 9 7,791,071 (GRCm39) missense possibly damaging 0.89
R7849:Tmem123 UTSW 9 7,790,890 (GRCm39) missense probably benign
R9629:Tmem123 UTSW 9 7,790,984 (GRCm39) missense possibly damaging 0.51
RF022:Tmem123 UTSW 9 7,791,414 (GRCm39) missense probably damaging 1.00
Z1176:Tmem123 UTSW 9 7,764,268 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGTGAAATGCAGAGCACCG -3'
(R):5'- AAACTTGGATCCTTTGCCTTTGG -3'

Sequencing Primer
(F):5'- TGCAGAGCACCGCGAAG -3'
(R):5'- AGTCTGAAGTCCGAATTTCTAGG -3'
Posted On 2020-01-23