Incidental Mutation 'IGL02439:Tmem126a'
ID 293380
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem126a
Ensembl Gene ENSMUSG00000030615
Gene Name transmembrane protein 126A
Synonyms 1810020E01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02439
Quality Score
Status
Chromosome 7
Chromosomal Location 90099908-90106411 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90104641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 27 (E27G)
Ref Sequence ENSEMBL: ENSMUSP00000115803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032844] [ENSMUST00000136652]
AlphaFold Q9D8Y1
Predicted Effect possibly damaging
Transcript: ENSMUST00000032844
AA Change: E27G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032844
Gene: ENSMUSG00000030615
AA Change: E27G

DomainStartEndE-ValueType
Pfam:DUF1370 12 191 1.2e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136652
AA Change: E27G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115803
Gene: ENSMUSG00000030615
AA Change: E27G

DomainStartEndE-ValueType
Pfam:DUF1370 6 89 3.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208639
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik A T 14: 4,348,890 (GRCm38) Y17F probably benign Het
Ablim2 A C 5: 36,015,206 (GRCm39) T507P possibly damaging Het
Arhgef28 T C 13: 98,067,647 (GRCm39) Y1426C possibly damaging Het
Cftr T A 6: 18,258,237 (GRCm39) Y592* probably null Het
Eogt C T 6: 97,120,934 (GRCm39) G93D possibly damaging Het
Exosc9 A G 3: 36,607,180 (GRCm39) probably benign Het
Frem1 T C 4: 82,874,582 (GRCm39) I1329V probably benign Het
Gal3st1 T C 11: 3,948,110 (GRCm39) F106L possibly damaging Het
Gulp1 A T 1: 44,820,164 (GRCm39) I216F probably damaging Het
Ints13 A T 6: 146,455,721 (GRCm39) probably benign Het
Kars1 G A 8: 112,724,268 (GRCm39) T453I probably benign Het
Kif14 A G 1: 136,417,999 (GRCm39) D844G probably damaging Het
Lgals3bp A T 11: 118,289,046 (GRCm39) C93S probably damaging Het
Lst1 T C 17: 35,405,958 (GRCm39) I32V probably benign Het
Malsu1 T A 6: 49,052,121 (GRCm39) Y114N probably damaging Het
Ndufa5 A T 6: 24,519,201 (GRCm39) V41E probably damaging Het
Nme6 C A 9: 109,670,999 (GRCm39) P80T probably damaging Het
Odad2 T A 18: 7,268,444 (GRCm39) R358S probably benign Het
Or5ac20 A G 16: 59,104,818 (GRCm39) L14P probably damaging Het
Padi4 T C 4: 140,473,532 (GRCm39) D635G probably damaging Het
Pcf11 C T 7: 92,311,049 (GRCm39) S313N possibly damaging Het
Pdik1l T C 4: 134,006,015 (GRCm39) H309R probably benign Het
Pdk2 A T 11: 94,930,323 (GRCm39) probably benign Het
Pprc1 A G 19: 46,060,758 (GRCm39) S1606G possibly damaging Het
Ptch1 A G 13: 63,692,910 (GRCm39) I230T probably damaging Het
Scn10a C T 9: 119,447,914 (GRCm39) R1381Q probably benign Het
Sestd1 T C 2: 77,027,174 (GRCm39) K479E possibly damaging Het
Sez6l2 C T 7: 126,567,361 (GRCm39) S892L probably damaging Het
Slc39a9 G T 12: 80,713,350 (GRCm39) A83S probably benign Het
Slc6a6 A G 6: 91,726,808 (GRCm39) Y483C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tas2r131 A G 6: 132,934,732 (GRCm39) S26P probably damaging Het
Timd2 A G 11: 46,569,063 (GRCm39) probably benign Het
Tns2 G A 15: 102,022,978 (GRCm39) G1256E probably damaging Het
Trpv6 T A 6: 41,602,421 (GRCm39) I322F probably damaging Het
Tshr G A 12: 91,504,321 (GRCm39) V420M probably damaging Het
Ttn C A 2: 76,596,431 (GRCm39) A20161S probably damaging Het
Vmn2r66 A T 7: 84,654,455 (GRCm39) probably benign Het
Zfp438 T A 18: 5,213,216 (GRCm39) S581C probably 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
R1535:Tmem126a UTSW 7 90,102,026 (GRCm39) missense probably benign 0.01
R1840:Tmem126a UTSW 7 90,102,092 (GRCm39) nonsense probably null
R7098:Tmem126a UTSW 7 90,100,062 (GRCm39) missense possibly damaging 0.69
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
Posted On 2015-04-16