Incidental Mutation 'IGL01308:Tmem260'
ID |
73540 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem260
|
Ensembl Gene |
ENSMUSG00000036339 |
Gene Name |
transmembrane protein 260 |
Synonyms |
6720456H20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01308
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
48683581-48761703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48749415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 638
(N638S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111735]
[ENSMUST00000124720]
[ENSMUST00000153765]
[ENSMUST00000226422]
[ENSMUST00000227440]
|
AlphaFold |
Q8BMD6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111735
AA Change: N638S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107364 Gene: ENSMUSG00000036339 AA Change: N638S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
Pfam:DUF2723
|
48 |
211 |
1.9e-43 |
PFAM |
transmembrane domain
|
316 |
338 |
N/A |
INTRINSIC |
transmembrane domain
|
353 |
372 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124720
AA Change: N486S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118376 Gene: ENSMUSG00000036339 AA Change: N486S
Domain | Start | End | E-Value | Type |
Pfam:DUF2723
|
1 |
61 |
4.6e-9 |
PFAM |
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
transmembrane domain
|
164 |
186 |
N/A |
INTRINSIC |
transmembrane domain
|
201 |
220 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153765
|
SMART Domains |
Protein: ENSMUSP00000116155 Gene: ENSMUSG00000036339
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
Pfam:DUF2723
|
48 |
111 |
8.3e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156480
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226344
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226422
AA Change: N638S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227440
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,748,997 (GRCm39) |
D1256G |
probably damaging |
Het |
Acot7 |
A |
T |
4: 152,345,353 (GRCm39) |
M308L |
probably benign |
Het |
Adarb2 |
A |
G |
13: 8,253,329 (GRCm39) |
R25G |
possibly damaging |
Het |
Ano1 |
C |
A |
7: 144,149,235 (GRCm39) |
Q875H |
probably damaging |
Het |
Ano6 |
G |
A |
15: 95,811,542 (GRCm39) |
|
probably null |
Het |
Defa40 |
C |
T |
8: 21,740,434 (GRCm39) |
T80I |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,523 (GRCm39) |
D455V |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,088,022 (GRCm39) |
P354L |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,768,572 (GRCm39) |
H1454R |
probably damaging |
Het |
Esyt1 |
T |
A |
10: 128,355,660 (GRCm39) |
N421Y |
possibly damaging |
Het |
Gen1 |
T |
C |
12: 11,306,871 (GRCm39) |
T100A |
probably damaging |
Het |
Jak3 |
A |
T |
8: 72,137,810 (GRCm39) |
D780V |
probably damaging |
Het |
Klrb1a |
A |
G |
6: 128,595,008 (GRCm39) |
|
probably benign |
Het |
Lrp8 |
A |
G |
4: 107,721,273 (GRCm39) |
I826M |
probably benign |
Het |
Mcmbp |
G |
A |
7: 128,316,209 (GRCm39) |
Q214* |
probably null |
Het |
Mtmr7 |
A |
T |
8: 41,050,388 (GRCm39) |
Y136N |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,140,151 (GRCm39) |
Y88H |
probably benign |
Het |
Nkx2-4 |
A |
G |
2: 146,926,260 (GRCm39) |
Y201H |
possibly damaging |
Het |
Or3a1d |
A |
G |
11: 74,237,486 (GRCm39) |
L308P |
probably damaging |
Het |
Or52n4b |
T |
A |
7: 108,143,933 (GRCm39) |
L65* |
probably null |
Het |
Or6c5 |
A |
T |
10: 129,074,476 (GRCm39) |
T153S |
probably benign |
Het |
Pigg |
T |
C |
5: 108,484,343 (GRCm39) |
L663P |
probably damaging |
Het |
Pik3cd |
A |
G |
4: 149,741,917 (GRCm39) |
V343A |
probably damaging |
Het |
Plekha4 |
A |
G |
7: 45,187,659 (GRCm39) |
S244G |
probably damaging |
Het |
Prkce |
T |
A |
17: 86,932,890 (GRCm39) |
D623E |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,159,425 (GRCm39) |
|
probably benign |
Het |
Rexo5 |
T |
C |
7: 119,433,499 (GRCm39) |
W419R |
probably damaging |
Het |
Rnaseh2b |
A |
G |
14: 62,602,706 (GRCm39) |
|
probably null |
Het |
Rras |
A |
G |
7: 44,670,709 (GRCm39) |
Y193C |
possibly damaging |
Het |
Sall4 |
T |
C |
2: 168,592,164 (GRCm39) |
I997V |
probably damaging |
Het |
Sec31b |
A |
G |
19: 44,512,122 (GRCm39) |
F591L |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,059,610 (GRCm39) |
L232P |
probably benign |
Het |
Slc13a3 |
A |
T |
2: 165,248,700 (GRCm39) |
I526N |
probably damaging |
Het |
Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
Snrnp25 |
A |
G |
11: 32,158,745 (GRCm39) |
|
probably benign |
Het |
Tex264 |
T |
C |
9: 106,539,607 (GRCm39) |
K201E |
possibly damaging |
Het |
Tgfb1 |
G |
T |
7: 25,387,442 (GRCm39) |
R50L |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
Tmed1 |
A |
T |
9: 21,421,338 (GRCm39) |
C45* |
probably null |
Het |
Traf3ip3 |
T |
C |
1: 192,867,199 (GRCm39) |
E274G |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,272,802 (GRCm39) |
|
probably null |
Het |
Trim3 |
A |
T |
7: 105,266,676 (GRCm39) |
V502E |
probably damaging |
Het |
Trmo |
C |
T |
4: 46,377,053 (GRCm39) |
|
probably benign |
Het |
Xab2 |
C |
T |
8: 3,666,332 (GRCm39) |
R192Q |
probably benign |
Het |
|
Other mutations in Tmem260 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Tmem260
|
APN |
14 |
48,724,336 (GRCm39) |
missense |
probably benign |
0.27 |
IGL00338:Tmem260
|
APN |
14 |
48,715,093 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00508:Tmem260
|
APN |
14 |
48,746,578 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01548:Tmem260
|
APN |
14 |
48,717,782 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL01952:Tmem260
|
APN |
14 |
48,709,933 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03068:Tmem260
|
APN |
14 |
48,724,371 (GRCm39) |
splice site |
probably benign |
|
IGL03081:Tmem260
|
APN |
14 |
48,733,750 (GRCm39) |
missense |
probably benign |
0.14 |
R0131:Tmem260
|
UTSW |
14 |
48,720,779 (GRCm39) |
nonsense |
probably null |
|
R0131:Tmem260
|
UTSW |
14 |
48,720,779 (GRCm39) |
nonsense |
probably null |
|
R0132:Tmem260
|
UTSW |
14 |
48,720,779 (GRCm39) |
nonsense |
probably null |
|
R0149:Tmem260
|
UTSW |
14 |
48,689,504 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0361:Tmem260
|
UTSW |
14 |
48,689,504 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0396:Tmem260
|
UTSW |
14 |
48,724,324 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0524:Tmem260
|
UTSW |
14 |
48,709,935 (GRCm39) |
missense |
probably benign |
0.00 |
R1734:Tmem260
|
UTSW |
14 |
48,746,550 (GRCm39) |
missense |
probably benign |
0.00 |
R2152:Tmem260
|
UTSW |
14 |
48,715,066 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2474:Tmem260
|
UTSW |
14 |
48,733,781 (GRCm39) |
missense |
probably null |
0.90 |
R2928:Tmem260
|
UTSW |
14 |
48,724,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R2999:Tmem260
|
UTSW |
14 |
48,722,446 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3030:Tmem260
|
UTSW |
14 |
48,722,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R4273:Tmem260
|
UTSW |
14 |
48,742,761 (GRCm39) |
missense |
probably benign |
0.11 |
R4276:Tmem260
|
UTSW |
14 |
48,715,093 (GRCm39) |
missense |
probably damaging |
0.97 |
R4277:Tmem260
|
UTSW |
14 |
48,715,093 (GRCm39) |
missense |
probably damaging |
0.97 |
R4278:Tmem260
|
UTSW |
14 |
48,715,093 (GRCm39) |
missense |
probably damaging |
0.97 |
R4791:Tmem260
|
UTSW |
14 |
48,749,451 (GRCm39) |
intron |
probably benign |
|
R4792:Tmem260
|
UTSW |
14 |
48,749,451 (GRCm39) |
intron |
probably benign |
|
R4810:Tmem260
|
UTSW |
14 |
48,709,930 (GRCm39) |
missense |
probably damaging |
0.99 |
R5189:Tmem260
|
UTSW |
14 |
48,746,573 (GRCm39) |
missense |
probably benign |
0.01 |
R5280:Tmem260
|
UTSW |
14 |
48,742,716 (GRCm39) |
missense |
probably benign |
0.02 |
R5289:Tmem260
|
UTSW |
14 |
48,724,267 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5322:Tmem260
|
UTSW |
14 |
48,724,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R5491:Tmem260
|
UTSW |
14 |
48,749,627 (GRCm39) |
splice site |
probably null |
|
R5593:Tmem260
|
UTSW |
14 |
48,711,501 (GRCm39) |
missense |
probably benign |
0.38 |
R5606:Tmem260
|
UTSW |
14 |
48,722,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R5824:Tmem260
|
UTSW |
14 |
48,742,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R5947:Tmem260
|
UTSW |
14 |
48,724,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6587:Tmem260
|
UTSW |
14 |
48,733,913 (GRCm39) |
splice site |
probably null |
|
R7234:Tmem260
|
UTSW |
14 |
48,742,786 (GRCm39) |
nonsense |
probably null |
|
R7236:Tmem260
|
UTSW |
14 |
48,746,647 (GRCm39) |
splice site |
probably null |
|
R7836:Tmem260
|
UTSW |
14 |
48,746,519 (GRCm39) |
missense |
probably benign |
0.04 |
R8795:Tmem260
|
UTSW |
14 |
48,689,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R8895:Tmem260
|
UTSW |
14 |
48,737,845 (GRCm39) |
unclassified |
probably benign |
|
R9056:Tmem260
|
UTSW |
14 |
48,717,774 (GRCm39) |
missense |
probably benign |
|
R9096:Tmem260
|
UTSW |
14 |
48,757,803 (GRCm39) |
missense |
unknown |
|
R9384:Tmem260
|
UTSW |
14 |
48,724,276 (GRCm39) |
missense |
probably benign |
0.00 |
R9634:Tmem260
|
UTSW |
14 |
48,709,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |