Incidental Mutation 'R7098:Tmem126a'
ID 550638
Institutional Source Beutler Lab
Gene Symbol Tmem126a
Ensembl Gene ENSMUSG00000030615
Gene Name transmembrane protein 126A
Synonyms 1810020E01Rik
MMRRC Submission 045190-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7098 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 90099908-90106411 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90100062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 160 (M160I)
Ref Sequence ENSEMBL: ENSMUSP00000032844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032844] [ENSMUST00000061767] [ENSMUST00000136652] [ENSMUST00000143408] [ENSMUST00000208379]
AlphaFold Q9D8Y1
Predicted Effect possibly damaging
Transcript: ENSMUST00000032844
AA Change: M160I

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032844
Gene: ENSMUSG00000030615
AA Change: M160I

DomainStartEndE-ValueType
Pfam:DUF1370 12 191 1.2e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061767
SMART Domains Protein: ENSMUSP00000050972
Gene: ENSMUSG00000051451

DomainStartEndE-ValueType
low complexity region 41 64 N/A INTRINSIC
BRLZ 126 185 2.13e-2 SMART
low complexity region 195 210 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136652
SMART Domains Protein: ENSMUSP00000115803
Gene: ENSMUSG00000030615

DomainStartEndE-ValueType
Pfam:DUF1370 6 89 3.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143408
Predicted Effect probably benign
Transcript: ENSMUST00000207252
Predicted Effect probably benign
Transcript: ENSMUST00000208379
Meta Mutation Damage Score 0.7766 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (78/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,644,784 (GRCm39) M223K probably benign Het
Abce1 T C 8: 80,412,678 (GRCm39) T550A probably benign Het
Acoxl C T 2: 127,696,835 (GRCm39) Q28* probably null Het
Adam8 T C 7: 139,559,412 (GRCm39) K820R possibly damaging Het
Adamts3 G T 5: 90,009,354 (GRCm39) A103D probably damaging Het
Apba2 T A 7: 64,386,696 (GRCm39) V441D probably damaging Het
Arap2 A G 5: 62,833,293 (GRCm39) probably null Het
Arhgef10l T A 4: 140,308,222 (GRCm39) M44L probably benign Het
Asb4 T C 6: 5,398,499 (GRCm39) C155R probably damaging Het
Bpifb6 A T 2: 153,748,810 (GRCm39) K269* probably null Het
Cc2d2a A T 5: 43,840,481 (GRCm39) T161S probably benign Het
Ccdc15 T A 9: 37,255,256 (GRCm39) Q98L probably damaging Het
Col19a1 A G 1: 24,565,555 (GRCm39) S259P unknown Het
Col5a2 A T 1: 45,419,227 (GRCm39) D1284E possibly damaging Het
Cyp2c70 T C 19: 40,168,931 (GRCm39) T119A probably benign Het
Dennd6b C T 15: 89,072,890 (GRCm39) C188Y probably damaging Het
Dhx8 T A 11: 101,628,594 (GRCm39) probably null Het
Dhx9 T C 1: 153,340,768 (GRCm39) K624R probably benign Het
Dpys C T 15: 39,656,727 (GRCm39) V447M probably damaging Het
E130308A19Rik T C 4: 59,753,004 (GRCm39) S706P possibly damaging Het
Esrrb A G 12: 86,517,189 (GRCm39) D107G probably benign Het
Frmd4a T C 2: 4,577,244 (GRCm39) S367P probably damaging Het
Garin2 G A 12: 78,766,408 (GRCm39) probably null Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm136 T C 4: 34,746,628 (GRCm39) I128V probably benign Het
Gm6525 T A 3: 84,082,309 (GRCm39) C77S possibly damaging Het
Grid2ip T C 5: 143,343,346 (GRCm39) F14S probably damaging Het
Hdhd3 C T 4: 62,418,152 (GRCm39) R8H probably damaging Het
Kdelr1 C A 7: 45,523,480 (GRCm39) A69D possibly damaging Het
Krtap16-3 T A 16: 88,759,560 (GRCm39) Y51F unknown Het
Lrrc40 T A 3: 157,747,276 (GRCm39) N129K probably benign Het
Man1b1 T A 2: 25,228,196 (GRCm39) D155E probably damaging Het
Mcm5 T C 8: 75,847,529 (GRCm39) V442A probably damaging Het
Mfsd14a C T 3: 116,435,361 (GRCm39) A235T probably benign Het
Mmp1a C A 9: 7,475,938 (GRCm39) T401K probably benign Het
Mpig6b C T 17: 35,283,320 (GRCm39) R196Q unknown Het
Mroh1 C T 15: 76,292,657 (GRCm39) Q262* probably null Het
Msh3 A T 13: 92,410,619 (GRCm39) D656E possibly damaging Het
Muc4 A T 16: 32,577,465 (GRCm39) T252S Het
Myh15 C T 16: 48,997,420 (GRCm39) A1746V possibly damaging Het
Myh8 C A 11: 67,169,879 (GRCm39) T66K probably benign Het
Nemf A T 12: 69,359,241 (GRCm39) Y999N probably damaging Het
Neurod1 T C 2: 79,285,029 (GRCm39) N118S probably damaging Het
Nlrp1b T A 11: 71,109,100 (GRCm39) I134L possibly damaging Het
Nsun7 A T 5: 66,418,326 (GRCm39) I19F probably damaging Het
Ofcc1 A G 13: 40,157,442 (GRCm39) probably null Het
P2rx7 A G 5: 122,811,856 (GRCm39) E389G probably damaging Het
Pam C T 1: 97,826,072 (GRCm39) R194H probably benign Het
Pcnt A G 10: 76,220,673 (GRCm39) S2052P probably benign Het
Pfkfb4 T A 9: 108,828,222 (GRCm39) Y86N probably benign Het
Plcd3 T A 11: 102,968,689 (GRCm39) D334V probably damaging Het
Ppard T C 17: 28,517,787 (GRCm39) V285A possibly damaging Het
Prune2 A G 19: 17,097,966 (GRCm39) S1157G probably benign Het
Psg21 A T 7: 18,386,470 (GRCm39) L172H probably damaging Het
Psme4 C A 11: 30,800,661 (GRCm39) T1417K probably damaging Het
Ptprc T C 1: 138,027,423 (GRCm39) D336G probably benign Het
Ralgapa1 A T 12: 55,837,095 (GRCm39) probably null Het
Rap1gap C A 4: 137,443,393 (GRCm39) probably null Het
Scap T C 9: 110,201,310 (GRCm39) S100P possibly damaging Het
Scpep1 T C 11: 88,820,011 (GRCm39) I426V possibly damaging Het
Sdk1 T C 5: 142,082,625 (GRCm39) I1341T probably damaging Het
Sfmbt2 T A 2: 10,584,000 (GRCm39) Y786N probably benign Het
Sh3tc1 A T 5: 35,859,358 (GRCm39) probably null Het
Slc5a5 T A 8: 71,341,182 (GRCm39) I386F probably damaging Het
Smarca4 T G 9: 21,546,116 (GRCm39) M98R probably benign Het
St18 G A 1: 6,898,066 (GRCm39) D623N probably damaging Het
Sult2a1 A T 7: 13,549,978 (GRCm39) probably null Het
Tgfb2 C T 1: 186,362,834 (GRCm39) R330H probably damaging Het
Thoc3 A G 13: 54,614,119 (GRCm39) I168T probably damaging Het
Tmem200b C T 4: 131,649,704 (GRCm39) P208L probably benign Het
Tnrc6c T C 11: 117,604,952 (GRCm39) V29A probably benign Het
Tsc1 C T 2: 28,565,744 (GRCm39) S465F probably benign Het
Ttll5 A G 12: 85,964,447 (GRCm39) probably null Het
Unc13d G T 11: 115,954,552 (GRCm39) L1019I probably damaging Het
Vmn2r102 A T 17: 19,914,670 (GRCm39) H745L probably damaging Het
Wars2 T G 3: 99,123,957 (GRCm39) S273A probably damaging Het
Xrcc6 C A 15: 81,919,955 (GRCm39) S498* probably null Het
Ybx1 A T 4: 119,140,050 (GRCm39) N92K possibly damaging Het
Other mutations in Tmem126a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Tmem126a APN 7 90,101,963 (GRCm39) missense probably benign 0.30
IGL00572:Tmem126a APN 7 90,100,040 (GRCm39) missense probably benign 0.13
IGL01316:Tmem126a APN 7 90,101,927 (GRCm39) missense probably damaging 1.00
IGL01578:Tmem126a APN 7 90,100,750 (GRCm39) critical splice donor site probably null
IGL02439:Tmem126a APN 7 90,104,641 (GRCm39) missense probably damaging 1.00
R1535:Tmem126a UTSW 7 90,102,026 (GRCm39) missense probably benign 0.01
R1840:Tmem126a UTSW 7 90,102,092 (GRCm39) nonsense probably null
R8251:Tmem126a UTSW 7 90,100,094 (GRCm39) missense probably benign 0.01
R9043:Tmem126a UTSW 7 90,100,749 (GRCm39) critical splice donor site probably null
R9204:Tmem126a UTSW 7 90,102,026 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AAAACTATGCCCCTTTGGTAGC -3'
(R):5'- TGCCAATAAGAGACTGCAGC -3'

Sequencing Primer
(F):5'- GTATAGTCTTTAATTGCCGGTCAAG -3'
(R):5'- GACTGCAGCTATGTTTACAATAAGAC -3'
Posted On 2019-05-15