Incidental Mutation 'IGL00471:Tmem26'
ID |
4712 |
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: 0.083)
|
Stock # |
IGL00471
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
68559576-68618485 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 68614511 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q3UP23 |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,657,661 (GRCm39) |
V2793A |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,631,389 (GRCm39) |
Y249C |
probably damaging |
Het |
Anks1 |
T |
C |
17: 28,277,390 (GRCm39) |
S1082P |
possibly damaging |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
C4b |
T |
G |
17: 34,953,403 (GRCm39) |
T1027P |
probably damaging |
Het |
Clec4d |
A |
T |
6: 123,251,732 (GRCm39) |
I205F |
probably damaging |
Het |
Cpeb2 |
A |
T |
5: 43,443,174 (GRCm39) |
Y955F |
probably damaging |
Het |
Cst13 |
T |
A |
2: 148,672,224 (GRCm39) |
M133K |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,871,405 (GRCm39) |
L2418P |
probably damaging |
Het |
Gli3 |
T |
C |
13: 15,898,354 (GRCm39) |
|
probably null |
Het |
Hgfac |
C |
A |
5: 35,203,870 (GRCm39) |
H463N |
probably damaging |
Het |
Hlx |
A |
T |
1: 184,463,792 (GRCm39) |
F183I |
probably damaging |
Het |
Ighv1-5 |
T |
G |
12: 114,477,093 (GRCm39) |
I70L |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,837,838 (GRCm39) |
T1181A |
probably damaging |
Het |
Morn1 |
A |
C |
4: 155,176,785 (GRCm39) |
K140Q |
possibly damaging |
Het |
Nek1 |
A |
T |
8: 61,496,318 (GRCm39) |
M358L |
probably benign |
Het |
Pcbd2 |
C |
T |
13: 55,924,413 (GRCm39) |
|
probably benign |
Het |
Pramel7 |
A |
T |
2: 87,321,429 (GRCm39) |
L202Q |
probably damaging |
Het |
Shq1 |
A |
G |
6: 100,641,444 (GRCm39) |
S146P |
probably benign |
Het |
Slc25a21 |
T |
C |
12: 56,764,922 (GRCm39) |
|
probably null |
Het |
Slc26a7 |
A |
T |
4: 14,548,403 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
Stam2 |
T |
C |
2: 52,610,947 (GRCm39) |
D25G |
probably damaging |
Het |
Tbx18 |
A |
T |
9: 87,587,676 (GRCm39) |
D480E |
possibly damaging |
Het |
Ube2c |
A |
G |
2: 164,613,213 (GRCm39) |
T44A |
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 |
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 |
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 |
2012-04-20 |