Incidental Mutation 'R4278:Tmem260'
ID |
322780 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem260
|
Ensembl Gene |
ENSMUSG00000036339 |
Gene Name |
transmembrane protein 260 |
Synonyms |
6720456H20Rik |
MMRRC Submission |
068968-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4278 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
48683581-48761703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 48715093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 249
(T249M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111735]
[ENSMUST00000124720]
[ENSMUST00000153765]
[ENSMUST00000226422]
[ENSMUST00000227440]
[ENSMUST00000228697]
|
AlphaFold |
Q8BMD6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111735
AA Change: T249M
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107364 Gene: ENSMUSG00000036339 AA Change: T249M
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 |
possibly damaging
Transcript: ENSMUST00000124720
AA Change: T97M
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000118376 Gene: ENSMUSG00000036339 AA Change: T97M
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 |
noncoding transcript
Transcript: ENSMUST00000133744
|
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: ENSMUST00000226373
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226422
AA Change: T249M
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227440
AA Change: T249M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228697
AA Change: T139M
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anln |
A |
G |
9: 22,245,296 (GRCm39) |
|
probably null |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Bltp3b |
T |
G |
10: 89,642,571 (GRCm39) |
|
probably null |
Het |
Capza3 |
T |
A |
6: 139,987,786 (GRCm39) |
Y128* |
probably null |
Het |
Ccdc187 |
T |
A |
2: 26,172,239 (GRCm39) |
|
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,209,667 (GRCm39) |
R119G |
probably damaging |
Het |
Espn |
T |
C |
4: 152,218,874 (GRCm39) |
D308G |
probably damaging |
Het |
Gm9857 |
T |
C |
3: 108,847,419 (GRCm39) |
|
probably benign |
Het |
Hhatl |
G |
A |
9: 121,613,285 (GRCm39) |
A470V |
probably benign |
Het |
Igfals |
A |
T |
17: 25,100,191 (GRCm39) |
E427D |
probably benign |
Het |
Il22ra1 |
C |
T |
4: 135,478,024 (GRCm39) |
A365V |
possibly damaging |
Het |
Kctd6 |
G |
C |
14: 8,222,806 (GRCm38) |
R216P |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,098,512 (GRCm39) |
M1864L |
probably null |
Het |
Mbd5 |
T |
G |
2: 49,162,305 (GRCm39) |
I37S |
probably damaging |
Het |
Nsf |
C |
A |
11: 103,821,632 (GRCm39) |
A5S |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
Or9q1 |
A |
G |
19: 13,805,793 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
C |
T |
11: 71,965,342 (GRCm39) |
V164I |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,532,637 (GRCm39) |
K117R |
probably benign |
Het |
Ppp1r13b |
G |
T |
12: 111,796,818 (GRCm39) |
N908K |
probably damaging |
Het |
Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
Rhbdd3 |
C |
T |
11: 5,055,329 (GRCm39) |
T226I |
probably benign |
Het |
Slc27a3 |
C |
T |
3: 90,296,495 (GRCm39) |
|
probably benign |
Het |
Slc30a2 |
G |
A |
4: 134,073,360 (GRCm39) |
E136K |
probably null |
Het |
Sptlc2 |
A |
C |
12: 87,382,925 (GRCm39) |
I393R |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r80 |
G |
T |
7: 11,927,454 (GRCm39) |
C188F |
probably benign |
Het |
Vwa2 |
C |
A |
19: 56,891,915 (GRCm39) |
Q283K |
probably benign |
Het |
Zfp52 |
A |
G |
17: 21,782,132 (GRCm39) |
K660R |
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 |
IGL01308:Tmem260
|
APN |
14 |
48,749,415 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCCTTAAGCAAACACATTTGATG -3'
(R):5'- ACACTCCCAGGGACTAATCTAG -3'
Sequencing Primer
(F):5'- TTTCGAAGTTCCAGGATGAATGGAC -3'
(R):5'- TCTAGTACCTAGAATGGCAGTGC -3'
|
Posted On |
2015-06-20 |