Incidental Mutation 'P0027:Tmem26'
ID |
8051 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem26
|
Ensembl Gene |
ENSMUSG00000060044 |
Gene Name |
transmembrane protein 26 |
Synonyms |
|
MMRRC Submission |
038280-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
P0027 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
68559576-68618485 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68614548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 321
(E321G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080995]
[ENSMUST00000218918]
|
AlphaFold |
Q3UP23 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080995
AA Change: E321G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000079789 Gene: ENSMUSG00000060044 AA Change: E321G
Domain | Start | End | E-Value | Type |
Pfam:Tmem26
|
3 |
304 |
5.6e-125 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218918
|
Meta Mutation Damage Score |
0.0746 |
Coding Region Coverage |
- 1x: 82.6%
- 3x: 72.9%
- 10x: 45.3%
- 20x: 23.4%
|
Validation Efficiency |
93% (53/57) |
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
Ftsj3 |
C |
A |
11: 106,145,634 (GRCm39) |
M66I |
possibly damaging |
Het |
Kdm2a |
C |
T |
19: 4,393,273 (GRCm39) |
|
probably benign |
Het |
Klhl14 |
T |
C |
18: 21,691,192 (GRCm39) |
Y446C |
probably damaging |
Het |
Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
Marco |
A |
T |
1: 120,402,441 (GRCm39) |
W502R |
probably damaging |
Het |
Ms4a10 |
T |
C |
19: 10,941,492 (GRCm39) |
D159G |
probably damaging |
Het |
Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
Myh15 |
C |
T |
16: 48,901,571 (GRCm39) |
T249I |
possibly damaging |
Het |
Nap1l5 |
T |
A |
6: 58,883,810 (GRCm39) |
N48I |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
Phactr4 |
G |
C |
4: 132,098,401 (GRCm39) |
T252R |
probably damaging |
Het |
Sec14l2 |
C |
T |
11: 4,053,673 (GRCm39) |
|
probably null |
Het |
Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
Yif1b |
T |
C |
7: 28,938,038 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tmem26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Tmem26
|
APN |
10 |
68,611,184 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00471:Tmem26
|
APN |
10 |
68,614,511 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01301:Tmem26
|
APN |
10 |
68,614,436 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01567:Tmem26
|
APN |
10 |
68,587,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02487:Tmem26
|
APN |
10 |
68,614,563 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02713:Tmem26
|
APN |
10 |
68,587,125 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02828:Tmem26
|
APN |
10 |
68,611,215 (GRCm39) |
critical splice donor site |
probably null |
|
ANU18:Tmem26
|
UTSW |
10 |
68,614,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R1415:Tmem26
|
UTSW |
10 |
68,614,491 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1649:Tmem26
|
UTSW |
10 |
68,587,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R3871:Tmem26
|
UTSW |
10 |
68,614,562 (GRCm39) |
missense |
probably benign |
0.01 |
R5072:Tmem26
|
UTSW |
10 |
68,611,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R5239:Tmem26
|
UTSW |
10 |
68,587,096 (GRCm39) |
missense |
probably damaging |
0.97 |
R6053:Tmem26
|
UTSW |
10 |
68,584,314 (GRCm39) |
missense |
probably benign |
0.00 |
R6607:Tmem26
|
UTSW |
10 |
68,614,543 (GRCm39) |
missense |
probably benign |
0.00 |
R6710:Tmem26
|
UTSW |
10 |
68,559,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R7378:Tmem26
|
UTSW |
10 |
68,559,922 (GRCm39) |
critical splice donor site |
probably null |
|
R9276:Tmem26
|
UTSW |
10 |
68,614,488 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9303:Tmem26
|
UTSW |
10 |
68,559,816 (GRCm39) |
nonsense |
probably null |
|
R9305:Tmem26
|
UTSW |
10 |
68,559,816 (GRCm39) |
nonsense |
probably null |
|
R9661:Tmem26
|
UTSW |
10 |
68,559,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R9716:Tmem26
|
UTSW |
10 |
68,576,790 (GRCm39) |
missense |
probably damaging |
1.00 |
T0722:Tmem26
|
UTSW |
10 |
68,614,548 (GRCm39) |
missense |
probably benign |
0.00 |
X0003:Tmem26
|
UTSW |
10 |
68,614,548 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Tmem26
|
UTSW |
10 |
68,559,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-11-20 |