Incidental Mutation 'R1415:Tmem26'
| ID |
159778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem26
|
| Ensembl Gene |
ENSMUSG00000060044 |
| Gene Name |
transmembrane protein 26 |
| Synonyms |
|
| MMRRC Submission |
039471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R1415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
68559576-68618485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68614491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 302
(F302S)
|
| 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: F302S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079789
Gene: ENSMUSG00000060044
AA Change: F302S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmem26
|
3 |
304 |
5.6e-125 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218918
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,303,982 (GRCm39) |
V135A |
probably benign |
Het |
| Adam21 |
C |
T |
12: 81,606,321 (GRCm39) |
W480* |
probably null |
Het |
| Ccdc71 |
T |
A |
9: 108,340,407 (GRCm39) |
Y73* |
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,689,371 (GRCm39) |
V264A |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,328,777 (GRCm39) |
E1174G |
probably damaging |
Het |
| Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
| Gigyf1 |
A |
G |
5: 137,517,478 (GRCm39) |
|
probably null |
Het |
| Letm1 |
A |
T |
5: 33,926,906 (GRCm39) |
N130K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,519,676 (GRCm39) |
Y137C |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,330 (GRCm39) |
I597V |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,720 (GRCm39) |
E770G |
probably benign |
Het |
| Or4d2b |
A |
C |
11: 87,780,473 (GRCm39) |
V83G |
possibly damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,543 (GRCm39) |
I320T |
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,124,638 (GRCm39) |
Y68* |
probably null |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,285 (GRCm39) |
G1057V |
probably benign |
Het |
| Slc30a2 |
C |
T |
4: 134,076,660 (GRCm39) |
T265M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,688,084 (GRCm39) |
E1239G |
probably null |
Het |
| Snx30 |
C |
T |
4: 59,879,261 (GRCm39) |
R167C |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,301,610 (GRCm39) |
L19S |
probably damaging |
Het |
| Trp53bp1 |
T |
G |
2: 121,066,665 (GRCm39) |
E687A |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,046,667 (GRCm39) |
H243Y |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,763,137 (GRCm39) |
V2318D |
possibly damaging |
Het |
| Wdr59 |
G |
A |
8: 112,225,228 (GRCm39) |
P141S |
probably damaging |
Het |
| Zbed6 |
C |
T |
1: 133,585,556 (GRCm39) |
V594M |
possibly damaging |
Het |
| Zfp787 |
C |
A |
7: 6,135,694 (GRCm39) |
G186C |
probably damaging |
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 |
|
P0027:Tmem26
|
UTSW |
10 |
68,614,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCAGTACAGTGCGGATCTATG -3'
(R):5'- AAGGAACGAGTTAAGCCTCGCAGC -3'
Sequencing Primer
(F):5'- CTATGGGCCATTGGTCTCAGC -3'
(R):5'- GTAAGACTCCTCGGAGGTGAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation