Incidental Mutation 'R5337:Tmem127'
ID 423550
Institutional Source Beutler Lab
Gene Symbol Tmem127
Ensembl Gene ENSMUSG00000034850
Gene Name transmembrane protein 127
Synonyms 2310003P10Rik
MMRRC Submission 042917-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5337 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 127089868-127103028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127098065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 129 (Y129H)
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: Y129H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035434
Gene: ENSMUSG00000034850
AA Change: Y129H

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 probably damaging
Transcript: ENSMUST00000174288
AA Change: Y45H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134629
Gene: ENSMUSG00000034850
AA Change: Y45H

DomainStartEndE-ValueType
Blast:Sec63 1 95 1e-60 BLAST
low complexity region 118 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174503
SMART Domains Protein: ENSMUSP00000133701
Gene: ENSMUSG00000034850

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Blast:Sec63 37 124 8e-37 BLAST
Meta Mutation Damage Score 0.1814 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 T A 11: 77,409,665 (GRCm39) probably null Het
Akap8l A G 17: 32,555,368 (GRCm39) M237T possibly damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Api5 G T 2: 94,256,033 (GRCm39) A218E possibly damaging Het
Bltp2 T A 11: 78,156,034 (GRCm39) I182N possibly damaging Het
Cfap68 C A 9: 50,677,049 (GRCm39) C14F probably benign Het
Cftr A G 6: 18,319,058 (GRCm39) D1336G probably damaging Het
Chd1l G A 3: 97,469,932 (GRCm39) R865W probably damaging Het
Cimip2b C T 4: 43,427,687 (GRCm39) probably null Het
Cmya5 T C 13: 93,219,781 (GRCm39) K3223E probably benign Het
Cspg4b T A 13: 113,455,299 (GRCm39) H448Q probably damaging Het
Cuzd1 A G 7: 130,917,803 (GRCm39) Y266H probably damaging Het
Dnajc5b A T 3: 19,628,946 (GRCm39) Y80F probably damaging Het
Dock6 A G 9: 21,740,844 (GRCm39) S915P possibly damaging Het
Fat4 T A 3: 38,945,776 (GRCm39) D1556E probably damaging Het
Fat4 A G 3: 39,064,527 (GRCm39) T4828A probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gja3 T G 14: 57,273,289 (GRCm39) D361A probably benign Het
Gpr155 T C 2: 73,178,592 (GRCm39) E704G probably benign Het
Greb1l A G 18: 10,509,143 (GRCm39) E485G probably damaging Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
H6pd A G 4: 150,066,241 (GRCm39) V715A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnip1 T G 11: 33,592,389 (GRCm39) probably benign Het
Kif21b T C 1: 136,098,881 (GRCm39) S1390P probably damaging Het
Lrrc61 G A 6: 48,545,308 (GRCm39) V44M probably damaging Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mgat5 T C 1: 127,387,658 (GRCm39) F538S possibly damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndst1 A T 18: 60,823,079 (GRCm39) L829Q probably damaging Het
Neto1 A T 18: 86,416,434 (GRCm39) H47L probably benign Het
Or10ak11 T C 4: 118,686,863 (GRCm39) Y258C probably benign Het
Or10p22 A G 10: 128,826,548 (GRCm39) T256A probably benign Het
Or51r1 T C 7: 102,228,481 (GRCm39) S260P probably damaging Het
Or5p61 A T 7: 107,758,480 (GRCm39) V200D probably benign Het
Or6c214 A T 10: 129,590,403 (GRCm39) C305* probably null Het
Pds5b T C 5: 150,717,062 (GRCm39) F1120L probably benign Het
Phkb A G 8: 86,604,874 (GRCm39) Y93C probably damaging Het
Pilra C T 5: 137,834,032 (GRCm39) probably benign Het
Pmvk T C 3: 89,375,878 (GRCm39) V146A probably benign Het
Proz T A 8: 13,116,854 (GRCm39) D135E probably benign Het
Psg23 A T 7: 18,345,997 (GRCm39) W233R probably benign Het
Rgl2 A T 17: 34,153,958 (GRCm39) I455F probably damaging Het
Rhpn1 A G 15: 75,580,054 (GRCm39) Q39R probably benign Het
Rims4 T G 2: 163,707,763 (GRCm39) M100L probably benign Het
Sacs T A 14: 61,430,963 (GRCm39) probably benign Het
Slfn4 T C 11: 83,080,055 (GRCm39) F189L probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Trpc3 A T 3: 36,692,519 (GRCm39) probably benign Het
Tsga10ip A T 19: 5,444,363 (GRCm39) S23T probably benign Het
Tut7 G A 13: 59,939,666 (GRCm39) T695I probably damaging Het
Uspl1 T C 5: 149,151,556 (GRCm39) S720P probably damaging Het
Zc3h18 A G 8: 123,113,641 (GRCm39) D211G probably damaging Het
Zswim4 G A 8: 84,961,708 (GRCm39) P55L probably damaging Het
Other mutations in Tmem127
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Tmem127 APN 2 127,099,006 (GRCm39) missense probably damaging 1.00
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
R8831:Tmem127 UTSW 2 127,098,979 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGGTACATTGCTTGCCTCAG -3'
(R):5'- AACATTCCCTCTAATACTGGGC -3'

Sequencing Primer
(F):5'- ACCATTCTCTGTCCACAG -3'
(R):5'- CTGGGCAAGTTACTCACAAATG -3'
Posted On 2016-08-04