Incidental Mutation 'IGL01084:Tmem127'
ID 50449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem127
Ensembl Gene ENSMUSG00000034850
Gene Name transmembrane protein 127
Synonyms 2310003P10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01084
Quality Score
Status
Chromosome 2
Chromosomal Location 127089868-127103028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127099006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 180 (V180A)
Ref Sequence ENSEMBL: ENSMUSP00000035434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035871] [ENSMUST00000174288] [ENSMUST00000174503]
AlphaFold Q8BGP5
Predicted Effect probably damaging
Transcript: ENSMUST00000035871
AA Change: V180A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035434
Gene: ENSMUSG00000034850
AA Change: V180A

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: V96A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134629
Gene: ENSMUSG00000034850
AA Change: V96A

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: V125A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133701
Gene: ENSMUSG00000034850
AA Change: V125A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,546,901 (GRCm39) Q284K probably damaging Het
Adgrd1 A T 5: 129,216,656 (GRCm39) N341I probably benign Het
Arhgap40 T C 2: 158,385,138 (GRCm39) F457S probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Catsper1 G A 19: 5,387,800 (GRCm39) V360M probably damaging Het
Cdc42bpa T A 1: 179,969,839 (GRCm39) probably benign Het
Cep250 C T 2: 155,840,313 (GRCm39) H2424Y probably benign Het
Cln3 T C 7: 126,174,426 (GRCm39) E304G probably damaging Het
Eml2 T A 7: 18,924,663 (GRCm39) C177* probably null Het
Epha5 G A 5: 84,218,946 (GRCm39) R917* probably null Het
Gabra2 A G 5: 71,163,576 (GRCm39) F244L probably damaging Het
Gars1 C A 6: 55,032,812 (GRCm39) D261E probably benign Het
Gata3os A G 2: 9,887,884 (GRCm39) probably benign Het
Keg1 A G 19: 12,691,976 (GRCm39) K98E probably damaging Het
Kif13a A G 13: 46,904,110 (GRCm39) probably benign Het
Matn1 A G 4: 130,679,245 (GRCm39) K300E probably benign Het
Mesp1 A G 7: 79,442,831 (GRCm39) S149P probably benign Het
Mmp10 T C 9: 7,505,651 (GRCm39) V305A possibly damaging Het
Muc5b T C 7: 141,397,186 (GRCm39) probably benign Het
Myof T C 19: 37,924,884 (GRCm39) T1181A probably damaging Het
Or1r1 A T 11: 73,875,353 (GRCm39) L27Q probably damaging Het
Or5d35 T C 2: 87,855,347 (GRCm39) S94P probably benign Het
Or9i16 G T 19: 13,864,866 (GRCm39) T236N probably damaging Het
Osbpl11 T C 16: 33,047,221 (GRCm39) probably benign Het
Prune2 T C 19: 17,095,573 (GRCm39) V359A probably benign Het
Ptch1 T A 13: 63,691,451 (GRCm39) E267D probably damaging Het
Rbl2 A G 8: 91,848,941 (GRCm39) E1049G probably damaging Het
Ruvbl2 A T 7: 45,071,947 (GRCm39) probably null Het
Sec23b A G 2: 144,406,509 (GRCm39) I101M possibly damaging Het
Srms A C 2: 180,848,177 (GRCm39) probably null Het
Svep1 T A 4: 58,111,419 (GRCm39) T1067S possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Trpm7 A G 2: 126,687,992 (GRCm39) probably null Het
Trpv3 G A 11: 73,184,826 (GRCm39) probably null Het
Tti1 C T 2: 157,824,379 (GRCm39) V1025I probably damaging Het
Vmn2r80 A G 10: 79,030,433 (GRCm39) Y753C probably damaging Het
Vps13d A G 4: 144,881,525 (GRCm39) L1350S probably benign Het
Zfp287 G T 11: 62,604,716 (GRCm39) Y730* probably null Het
Zfp583 A G 7: 6,320,184 (GRCm39) F276S probably damaging Het
Zfp638 T C 6: 83,921,780 (GRCm39) Y636H probably benign Het
Other mutations in Tmem127
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02108:Tmem127 APN 2 127,099,026 (GRCm39) missense probably damaging 0.98
IGL02556:Tmem127 APN 2 127,097,922 (GRCm39) splice site probably null
R0070:Tmem127 UTSW 2 127,098,979 (GRCm39) missense probably damaging 1.00
R0070:Tmem127 UTSW 2 127,098,979 (GRCm39) missense probably damaging 1.00
R0765:Tmem127 UTSW 2 127,099,069 (GRCm39) missense probably damaging 0.96
R1696:Tmem127 UTSW 2 127,090,627 (GRCm39) missense probably damaging 0.98
R1827:Tmem127 UTSW 2 127,098,094 (GRCm39) splice site probably null
R1828:Tmem127 UTSW 2 127,098,094 (GRCm39) splice site probably null
R3498:Tmem127 UTSW 2 127,098,040 (GRCm39) missense probably benign 0.27
R3684:Tmem127 UTSW 2 127,090,652 (GRCm39) missense possibly damaging 0.72
R3950:Tmem127 UTSW 2 127,090,577 (GRCm39) missense probably damaging 1.00
R5337:Tmem127 UTSW 2 127,098,065 (GRCm39) missense probably damaging 0.98
R8831:Tmem127 UTSW 2 127,098,979 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21