Incidental Mutation 'IGL00471:Tmem26'
ID4712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem26
Ensembl Gene ENSMUSG00000060044
Gene Nametransmembrane protein 26
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL00471
Quality Score
Status
Chromosome10
Chromosomal Location68723646-68782650 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 68778681 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 309 (I309F)
Ref Sequence ENSEMBL: ENSMUSP00000079789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080995] [ENSMUST00000218918]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080995
AA Change: I309F

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079789
Gene: ENSMUSG00000060044
AA Change: I309F

DomainStartEndE-ValueType
Pfam:Tmem26 3 304 5.6e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218918
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple transmembrane helices. It is a selective surface protein marker of brite/beige adipocytes, which may coexist with classical brown adipocytes in brown adipose tissue. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,509,542 V2793A probably damaging Het
Agbl2 A G 2: 90,801,045 Y249C probably damaging Het
Anks1 T C 17: 28,058,416 S1082P possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
C4b T G 17: 34,734,429 T1027P probably damaging Het
Clec4d A T 6: 123,274,773 I205F probably damaging Het
Cpeb2 A T 5: 43,285,831 Y955F probably damaging Het
Cst13 T A 2: 148,830,304 M133K probably damaging Het
Dnah10 T C 5: 124,794,341 L2418P probably damaging Het
Gli3 T C 13: 15,723,769 probably null Het
Hgfac C A 5: 35,046,526 H463N probably damaging Het
Hlx A T 1: 184,731,595 F183I probably damaging Het
Ighv1-5 T G 12: 114,513,473 I70L probably benign Het
Ltbp2 T C 12: 84,791,064 T1181A probably damaging Het
Morn1 A C 4: 155,092,328 K140Q possibly damaging Het
Nek1 A T 8: 61,043,284 M358L probably benign Het
Pcbd2 C T 13: 55,776,600 probably benign Het
Pramel7 A T 2: 87,491,085 L202Q probably damaging Het
Shq1 A G 6: 100,664,483 S146P probably benign Het
Slc25a21 T C 12: 56,718,137 probably null Het
Slc26a7 A T 4: 14,548,403 probably benign Het
Sspo G A 6: 48,498,213 probably benign Het
Stam2 T C 2: 52,720,935 D25G probably damaging Het
Tbx18 A T 9: 87,705,623 D480E possibly damaging Het
Ube2c A G 2: 164,771,293 T44A probably benign Het
Other mutations in Tmem26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Tmem26 APN 10 68775354 missense probably damaging 1.00
IGL01301:Tmem26 APN 10 68778606 missense probably damaging 1.00
IGL01567:Tmem26 APN 10 68751231 missense probably damaging 1.00
IGL02487:Tmem26 APN 10 68778733 missense probably benign 0.00
IGL02713:Tmem26 APN 10 68751295 missense probably damaging 1.00
IGL02828:Tmem26 APN 10 68775385 critical splice donor site probably null
ANU18:Tmem26 UTSW 10 68778606 missense probably damaging 1.00
P0027:Tmem26 UTSW 10 68778718 missense probably benign 0.00
R1415:Tmem26 UTSW 10 68778661 missense possibly damaging 0.93
R1649:Tmem26 UTSW 10 68751273 missense probably damaging 1.00
R3871:Tmem26 UTSW 10 68778732 missense probably benign 0.01
R5072:Tmem26 UTSW 10 68775348 missense probably damaging 1.00
R5239:Tmem26 UTSW 10 68751266 missense probably damaging 0.97
R6053:Tmem26 UTSW 10 68748484 missense probably benign 0.00
R6607:Tmem26 UTSW 10 68778713 missense probably benign 0.00
R6710:Tmem26 UTSW 10 68724054 missense probably damaging 1.00
R7378:Tmem26 UTSW 10 68724092 critical splice donor site probably null
T0722:Tmem26 UTSW 10 68778718 missense probably benign 0.00
X0003:Tmem26 UTSW 10 68778718 missense probably benign 0.00
Z1177:Tmem26 UTSW 10 68723963 missense probably damaging 1.00
Posted On2012-04-20