Incidental Mutation 'IGL02111:Tmem126b'
ID280137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem126b
Ensembl Gene ENSMUSG00000030614
Gene Nametransmembrane protein 126B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL02111
Quality Score
Status
Chromosome7
Chromosomal Location90467438-90476001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 90469061 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 204 (Q204K)
Ref Sequence ENSEMBL: ENSMUSP00000032843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032843]
Predicted Effect probably damaging
Transcript: ENSMUST00000032843
AA Change: Q204K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032843
Gene: ENSMUSG00000030614
AA Change: Q204K

DomainStartEndE-ValueType
Pfam:DUF1370 51 228 2.9e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123622
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,424,179 I31T probably benign Het
Adgrg3 G A 8: 95,034,999 R130Q probably damaging Het
Adipor2 A T 6: 119,370,196 L42* probably null Het
Ankrd45 A G 1: 161,163,351 K259E probably damaging Het
Apoc3 T C 9: 46,234,474 K79R possibly damaging Het
Arhgap40 T C 2: 158,539,844 Y416H probably damaging Het
Armc5 A G 7: 128,244,083 T683A probably benign Het
Bora T C 14: 99,047,377 V21A probably damaging Het
Cacna1b C T 2: 24,606,991 S2189N probably damaging Het
Cct2 G A 10: 117,053,112 T57I probably damaging Het
Cd200r1 A T 16: 44,788,781 N34Y probably damaging Het
Cd300ld2 T A 11: 115,012,393 probably benign Het
Cntnap5a G A 1: 116,089,352 R225H probably benign Het
Cntnap5c A T 17: 58,102,108 D447V probably damaging Het
Cpne7 T C 8: 123,125,653 probably benign Het
Dap3 G A 3: 88,929,418 T92I probably benign Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Egfem1 G A 3: 29,650,896 probably null Het
Fam120b T C 17: 15,402,585 L275P possibly damaging Het
Fam161a A T 11: 23,020,026 H68L probably benign Het
Fam193a A G 5: 34,410,657 E100G possibly damaging Het
Ftmt A T 18: 52,332,053 D147V possibly damaging Het
Gm10136 T C 19: 29,003,722 K41E probably benign Het
Gm10797 C T 10: 67,572,567 noncoding transcript Het
Hsf1 A G 15: 76,496,081 probably benign Het
Ipo8 A G 6: 148,799,780 V514A probably damaging Het
Itfg2 T C 6: 128,410,381 H422R probably benign Het
Lrp4 G T 2: 91,506,059 L1738F probably damaging Het
Mettl17 A G 14: 51,891,386 E371G probably damaging Het
Mfsd6 A T 1: 52,708,344 L454Q probably damaging Het
Myh10 A T 11: 68,790,112 E956V probably damaging Het
Ncoa1 A T 12: 4,274,944 M1K probably null Het
Olfr1163 T A 2: 88,071,227 N52Y probably benign Het
Olfr677 A G 7: 105,056,945 D233G probably benign Het
Olfr709-ps1 A C 7: 106,926,616 V281G probably damaging Het
Otop1 T A 5: 38,277,701 C89S probably benign Het
Pitrm1 G T 13: 6,573,145 R775L probably benign Het
Prpf19 A G 19: 10,905,094 T512A probably benign Het
Prpf4b T A 13: 34,883,961 S258T probably benign Het
Rhbdl2 T C 4: 123,822,837 Y196H probably damaging Het
Rnf187 T C 11: 58,937,180 D148G probably damaging Het
Sbds A G 5: 130,250,941 I74T probably damaging Het
Sec63 T C 10: 42,810,888 V468A probably damaging Het
Slc35b3 A T 13: 38,955,782 M23K probably damaging Het
Slc6a9 A T 4: 117,864,013 Y208F probably benign Het
Slfn8 A T 11: 83,004,498 L494Q probably damaging Het
Sorcs1 T G 19: 50,230,245 M600L probably benign Het
Supt7l T C 5: 31,515,678 probably null Het
Tecrl T A 5: 83,354,792 Q70L probably damaging Het
Tedc2 A T 17: 24,218,166 probably benign Het
Tespa1 A G 10: 130,355,484 D99G probably damaging Het
Tmem181c-ps A T 17: 6,620,367 noncoding transcript Het
Tmem184a G T 5: 139,813,101 T31K possibly damaging Het
Tmprss11e T A 5: 86,719,801 I137F possibly damaging Het
Tmprss13 C T 9: 45,336,105 T255I probably damaging Het
Top1mt G A 15: 75,665,706 probably benign Het
Treh C T 9: 44,682,961 T168I probably benign Het
Ttn A T 2: 76,767,328 I11420N probably benign Het
Zp2 T C 7: 120,132,418 K705E possibly damaging Het
Zw10 T C 9: 49,068,754 I395T probably damaging Het
Other mutations in Tmem126b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1661:Tmem126b UTSW 7 90475971 missense probably damaging 1.00
R1665:Tmem126b UTSW 7 90475971 missense probably damaging 1.00
R1911:Tmem126b UTSW 7 90469159 missense possibly damaging 0.89
R2894:Tmem126b UTSW 7 90470913 missense probably damaging 0.99
R4519:Tmem126b UTSW 7 90469108 missense probably damaging 1.00
R5098:Tmem126b UTSW 7 90469642 missense probably damaging 1.00
R5425:Tmem126b UTSW 7 90470947 missense probably benign 0.06
R5750:Tmem126b UTSW 7 90469657 missense probably damaging 0.99
R7493:Tmem126b UTSW 7 90472646 missense probably benign 0.03
R8038:Tmem126b UTSW 7 90469622 missense probably benign 0.41
R8250:Tmem126b UTSW 7 90469109 missense probably damaging 0.99
Posted On2015-04-16