Incidental Mutation 'IGL01567:Tmem26'
ID |
91011 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem26
|
Ensembl Gene |
ENSMUSG00000060044 |
Gene Name |
transmembrane protein 26 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL01567
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
68559576-68618485 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68587061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 170
(T170A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080995]
[ENSMUST00000218918]
[ENSMUST00000219392]
|
AlphaFold |
Q3UP23 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080995
AA Change: T170A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079789 Gene: ENSMUSG00000060044 AA Change: T170A
Domain | Start | End | E-Value | Type |
Pfam:Tmem26
|
3 |
304 |
5.6e-125 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218918
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219392
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
A |
G |
7: 76,071,628 (GRCm39) |
S317G |
probably benign |
Het |
Akna |
T |
C |
4: 63,300,087 (GRCm39) |
T652A |
probably benign |
Het |
Anxa9 |
G |
A |
3: 95,209,743 (GRCm39) |
|
probably benign |
Het |
Bpifb4 |
T |
A |
2: 153,789,198 (GRCm39) |
|
probably benign |
Het |
Bptf |
A |
G |
11: 106,949,600 (GRCm39) |
S2125P |
probably damaging |
Het |
Capns2 |
C |
A |
8: 93,628,634 (GRCm39) |
H174Q |
probably benign |
Het |
Cd200 |
A |
C |
16: 45,215,054 (GRCm39) |
L199R |
probably damaging |
Het |
Clasp2 |
T |
C |
9: 113,709,164 (GRCm39) |
V651A |
probably damaging |
Het |
Cox18 |
G |
A |
5: 90,365,447 (GRCm39) |
Q251* |
probably null |
Het |
Depdc1a |
T |
C |
3: 159,232,183 (GRCm39) |
S645P |
probably damaging |
Het |
Dio3 |
T |
A |
12: 110,245,861 (GRCm39) |
C66S |
possibly damaging |
Het |
Dock9 |
A |
T |
14: 121,890,496 (GRCm39) |
L258Q |
probably damaging |
Het |
Ghrhr |
A |
G |
6: 55,361,108 (GRCm39) |
D274G |
probably damaging |
Het |
Gm5129 |
A |
G |
5: 29,940,862 (GRCm39) |
|
probably benign |
Het |
Grb7 |
A |
G |
11: 98,345,776 (GRCm39) |
N518S |
probably damaging |
Het |
Kdm5b |
G |
A |
1: 134,530,278 (GRCm39) |
A430T |
probably damaging |
Het |
Map10 |
C |
A |
8: 126,398,232 (GRCm39) |
Q542K |
probably benign |
Het |
Metap1 |
T |
C |
3: 138,168,150 (GRCm39) |
T325A |
probably damaging |
Het |
Ncan |
A |
T |
8: 70,560,984 (GRCm39) |
M661K |
probably benign |
Het |
Or2f1b |
T |
C |
6: 42,739,661 (GRCm39) |
I225T |
probably benign |
Het |
Or51h5 |
A |
G |
7: 102,577,623 (GRCm39) |
I263V |
probably benign |
Het |
Otog |
T |
C |
7: 45,926,039 (GRCm39) |
|
probably benign |
Het |
Pip4k2b |
T |
C |
11: 97,620,387 (GRCm39) |
D116G |
probably damaging |
Het |
Rps15 |
T |
A |
10: 80,129,643 (GRCm39) |
L86Q |
probably benign |
Het |
Sfxn4 |
G |
T |
19: 60,842,336 (GRCm39) |
T122K |
probably damaging |
Het |
Slc4a3 |
T |
C |
1: 75,527,526 (GRCm39) |
V165A |
probably damaging |
Het |
Spmip7 |
A |
G |
11: 11,465,015 (GRCm39) |
H122R |
possibly damaging |
Het |
Synm |
A |
G |
7: 67,384,980 (GRCm39) |
V452A |
probably damaging |
Het |
Tdpoz1 |
T |
C |
3: 93,578,013 (GRCm39) |
H257R |
possibly damaging |
Het |
Wdfy4 |
T |
G |
14: 32,873,618 (GRCm39) |
E230D |
probably benign |
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 |
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 |
P0027:Tmem26
|
UTSW |
10 |
68,614,548 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2013-12-09 |