Incidental Mutation 'IGL01316:Tmem126a'
ID73856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem126a
Ensembl Gene ENSMUSG00000030615
Gene Nametransmembrane protein 126A
Synonyms1810020E01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01316
Quality Score
Status
Chromosome7
Chromosomal Location90450700-90457229 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 90452719 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 91 (P91S)
Ref Sequence ENSEMBL: ENSMUSP00000032844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032844] [ENSMUST00000136652] [ENSMUST00000208379]
Predicted Effect probably damaging
Transcript: ENSMUST00000032844
AA Change: P91S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032844
Gene: ENSMUSG00000030615
AA Change: P91S

DomainStartEndE-ValueType
Pfam:DUF1370 12 191 1.2e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136652
SMART Domains Protein: ENSMUSP00000115803
Gene: ENSMUSG00000030615

DomainStartEndE-ValueType
Pfam:DUF1370 6 89 3.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207159
Predicted Effect probably benign
Transcript: ENSMUST00000207252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207423
Predicted Effect probably benign
Transcript: ENSMUST00000208379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209102
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 122,141,755 V326A probably damaging Het
Aldh1l1 A G 6: 90,598,380 D883G probably damaging Het
Ankk1 A G 9: 49,420,484 probably benign Het
Cacna1s T C 1: 136,118,964 V1796A probably benign Het
Ccdc186 A C 19: 56,813,413 C91G probably benign Het
Clec5a T C 6: 40,582,262 T63A probably benign Het
Cyp3a11 T A 5: 145,855,151 K477N possibly damaging Het
Dram2 T A 3: 106,572,980 V116E possibly damaging Het
Dram2 T C 3: 106,571,634 Y181H probably benign Het
Eps15l1 A T 8: 72,389,414 F184L possibly damaging Het
Greb1 T A 12: 16,698,586 H1102L probably benign Het
Inpp5f G A 7: 128,690,706 probably benign Het
Kcng1 T C 2: 168,269,040 N68S probably damaging Het
Klhl41 A G 2: 69,674,724 D457G probably benign Het
Krt2 T C 15: 101,811,211 R675G probably benign Het
Med13l T A 5: 118,762,781 V2200D probably damaging Het
Mme T A 3: 63,340,159 probably benign Het
Nexn A T 3: 152,247,233 F283L probably benign Het
Noxa1 T C 2: 25,086,011 D389G probably benign Het
Olfr135 A G 17: 38,208,497 N84S probably damaging Het
Olfr836 A G 9: 19,121,422 I156V probably benign Het
Parp1 A G 1: 180,592,935 probably benign Het
Pirt T C 11: 66,925,946 S28P probably damaging Het
Ros1 A G 10: 52,087,879 probably null Het
Sdk2 T C 11: 113,867,965 T478A probably benign Het
Secisbp2 T C 13: 51,654,516 S106P probably benign Het
Shroom1 C T 11: 53,465,558 A416V probably damaging Het
Ski C T 4: 155,221,686 A279T probably damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tab2 A G 10: 7,924,704 V28A probably damaging Het
Ucma T C 2: 4,981,231 probably benign Het
Other mutations in Tmem126a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Tmem126a APN 7 90452755 missense probably benign 0.30
IGL00572:Tmem126a APN 7 90450832 missense probably benign 0.13
IGL01578:Tmem126a APN 7 90451542 critical splice donor site probably null
IGL02439:Tmem126a APN 7 90455433 missense probably damaging 1.00
R1535:Tmem126a UTSW 7 90452818 missense probably benign 0.01
R1840:Tmem126a UTSW 7 90452884 nonsense probably null
R7098:Tmem126a UTSW 7 90450854 missense possibly damaging 0.69
Posted On2013-10-07