Incidental Mutation 'R6710:Tmem26'
| ID |
529099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem26
|
| Ensembl Gene |
ENSMUSG00000060044 |
| Gene Name |
transmembrane protein 26 |
| Synonyms |
|
| MMRRC Submission |
044828-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R6710 (G1)
|
| Quality Score |
185.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
68559576-68618485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68559884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 52
(L52P)
|
| 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: L52P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079789
Gene: ENSMUSG00000060044
AA Change: L52P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmem26
|
3 |
304 |
5.6e-125 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218918
AA Change: L52P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219392
AA Change: L52P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
T |
10: 87,061,923 (GRCm39) |
E124D |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,802 (GRCm39) |
T27A |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,309,740 (GRCm39) |
I507V |
possibly damaging |
Het |
| Cela2a |
C |
A |
4: 141,549,554 (GRCm39) |
A74S |
probably damaging |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,429 (GRCm39) |
D590G |
possibly damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,303 (GRCm39) |
E472G |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,300,128 (GRCm39) |
D318G |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,190,771 (GRCm39) |
C227R |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,387,949 (GRCm39) |
Y268C |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,553,366 (GRCm39) |
I4309N |
possibly damaging |
Het |
| Nit2 |
A |
G |
16: 56,980,493 (GRCm39) |
V95A |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,224,308 (GRCm39) |
I2049S |
probably benign |
Het |
| Or2h1 |
T |
G |
17: 37,404,638 (GRCm39) |
I43L |
probably damaging |
Het |
| Or7e175 |
C |
T |
9: 20,049,378 (GRCm39) |
A322V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,452 (GRCm39) |
S81P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,284,086 (GRCm39) |
I128V |
probably benign |
Het |
| Sem1 |
C |
A |
6: 6,578,497 (GRCm39) |
E20* |
probably null |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Utp3 |
T |
C |
5: 88,703,823 (GRCm39) |
Y451H |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,239 (GRCm39) |
I671N |
probably damaging |
Het |
| Zbtb39 |
T |
A |
10: 127,579,505 (GRCm39) |
I693N |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,921 (GRCm39) |
E62G |
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 |
|
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 |
|
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'- AAGAACTCGGGCTGGCAATC -3'
(R):5'- GATGCATCGGTATCCCATGTGC -3'
Sequencing Primer
(F):5'- AATCACAGTCCCAGGGGTGTC -3'
(R):5'- GTATCCCATGTGCCGACC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation