Incidental Mutation 'IGL02108:Tmem127'
ID280018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem127
Ensembl Gene ENSMUSG00000034850
Gene Nametransmembrane protein 127
Synonyms2310003P10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02108
Quality Score
Status
Chromosome2
Chromosomal Location127247908-127261107 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 127257106 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 132 (S132T)
Ref Sequence ENSEMBL: ENSMUSP00000133701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035871] [ENSMUST00000174288] [ENSMUST00000174503]
Predicted Effect probably damaging
Transcript: ENSMUST00000035871
AA Change: S187T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035434
Gene: ENSMUSG00000034850
AA Change: S187T

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Blast:Sec63 37 179 3e-98 BLAST
low complexity region 202 216 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174288
AA Change: S103T

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134629
Gene: ENSMUSG00000034850
AA Change: S103T

DomainStartEndE-ValueType
Blast:Sec63 1 95 1e-60 BLAST
low complexity region 118 132 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174503
AA Change: S132T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133701
Gene: ENSMUSG00000034850
AA Change: S132T

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Blast:Sec63 37 124 8e-37 BLAST
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 transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]
PHENOTYPE: Lysosomal activity and endosomal fusion mediated by Rab5 were affected in mouse embryonic fibroblasts of homozygous null mutants [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccdc190 A G 1: 169,933,986 D219G probably damaging Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Cecr2 G A 6: 120,762,558 probably null Het
Chid1 A T 7: 141,532,928 M1K probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Gpihbp1 T C 15: 75,597,612 V92A probably benign Het
Grsf1 C T 5: 88,665,903 R329Q probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Lcn2 A T 2: 32,387,605 L124Q probably damaging Het
Mbl1 T C 14: 41,153,651 S21P possibly damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Odf1 C A 15: 38,226,379 Y174* probably null Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Pde9a G A 17: 31,461,693 S316N probably benign Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P probably damaging Het
Other mutations in Tmem127
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Tmem127 APN 2 127257086 missense probably damaging 1.00
IGL02556:Tmem127 APN 2 127256002 splice site probably null
R0070:Tmem127 UTSW 2 127257059 missense probably damaging 1.00
R0070:Tmem127 UTSW 2 127257059 missense probably damaging 1.00
R0765:Tmem127 UTSW 2 127257149 missense probably damaging 0.96
R1696:Tmem127 UTSW 2 127248707 missense probably damaging 0.98
R1827:Tmem127 UTSW 2 127256174 splice site probably null
R1828:Tmem127 UTSW 2 127256174 splice site probably null
R3498:Tmem127 UTSW 2 127256120 missense probably benign 0.27
R3684:Tmem127 UTSW 2 127248732 missense possibly damaging 0.72
R3950:Tmem127 UTSW 2 127248657 missense probably damaging 1.00
R5337:Tmem127 UTSW 2 127256145 missense probably damaging 0.98
Posted On2015-04-16