Incidental Mutation 'IGL03081:Tmem260'
ID |
417853 |
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 # |
IGL03081
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
48683581-48761703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 48733750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 216
(I216L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111735]
[ENSMUST00000124720]
[ENSMUST00000153765]
[ENSMUST00000226422]
[ENSMUST00000227440]
[ENSMUST00000228697]
|
AlphaFold |
Q8BMD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111735
AA Change: I406L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000107364 Gene: ENSMUSG00000036339 AA Change: I406L
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 benign
Transcript: ENSMUST00000124720
AA Change: I254L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000118376 Gene: ENSMUSG00000036339 AA Change: I254L
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 |
probably benign
Transcript: ENSMUST00000226422
AA Change: I406L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227440
AA Change: I406L
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228697
AA Change: I216L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
C |
A |
19: 43,770,841 (GRCm39) |
|
probably benign |
Het |
Acan |
T |
G |
7: 78,748,291 (GRCm39) |
S1021A |
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,581,464 (GRCm39) |
|
probably benign |
Het |
Apc2 |
A |
G |
10: 80,148,086 (GRCm39) |
K1018E |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
Atp2b1 |
T |
C |
10: 98,830,675 (GRCm39) |
|
probably benign |
Het |
Cct6b |
A |
T |
11: 82,654,995 (GRCm39) |
L20* |
probably null |
Het |
Cd300ld2 |
G |
A |
11: 114,903,368 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
T |
G |
18: 34,769,757 (GRCm39) |
K454T |
probably damaging |
Het |
Cdh20 |
A |
T |
1: 104,868,982 (GRCm39) |
I158F |
probably damaging |
Het |
Cdk14 |
C |
T |
5: 4,999,527 (GRCm39) |
|
probably benign |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Clec2i |
A |
T |
6: 128,871,728 (GRCm39) |
Y113F |
probably damaging |
Het |
Dmpk |
T |
A |
7: 18,821,458 (GRCm39) |
S239T |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,905,347 (GRCm39) |
|
probably benign |
Het |
Exoc2 |
A |
G |
13: 31,084,885 (GRCm39) |
Y359H |
probably benign |
Het |
Eya1 |
A |
T |
1: 14,253,415 (GRCm39) |
F520L |
possibly damaging |
Het |
Fgfr1op2 |
A |
T |
6: 146,498,817 (GRCm39) |
I217F |
probably damaging |
Het |
Gm12258 |
A |
G |
11: 58,749,085 (GRCm39) |
N87D |
probably benign |
Het |
Gp6 |
A |
G |
7: 4,374,647 (GRCm39) |
S225P |
probably benign |
Het |
Hdac7 |
T |
C |
15: 97,696,187 (GRCm39) |
Y619C |
probably damaging |
Het |
Lars1 |
A |
G |
18: 42,343,156 (GRCm39) |
I1087T |
probably benign |
Het |
Lrrc37a |
G |
T |
11: 103,347,421 (GRCm39) |
H3091Q |
unknown |
Het |
Mcm3ap |
T |
C |
10: 76,306,150 (GRCm39) |
S88P |
possibly damaging |
Het |
Mrps23 |
G |
A |
11: 88,101,043 (GRCm39) |
R117Q |
probably benign |
Het |
Nbea |
T |
C |
3: 55,987,339 (GRCm39) |
S384G |
probably damaging |
Het |
Ndufs4 |
A |
T |
13: 114,444,373 (GRCm39) |
I135N |
possibly damaging |
Het |
Noto |
T |
C |
6: 85,401,091 (GRCm39) |
F40S |
probably damaging |
Het |
Nr5a1 |
A |
T |
2: 38,600,544 (GRCm39) |
V41D |
possibly damaging |
Het |
Or8b50 |
C |
T |
9: 38,518,166 (GRCm39) |
A135V |
probably benign |
Het |
Papola |
T |
A |
12: 105,785,114 (GRCm39) |
H415Q |
probably damaging |
Het |
Pcm1 |
C |
T |
8: 41,728,097 (GRCm39) |
T557I |
probably damaging |
Het |
Pde11a |
A |
T |
2: 75,906,274 (GRCm39) |
|
probably benign |
Het |
Pls1 |
A |
G |
9: 95,655,696 (GRCm39) |
V352A |
probably damaging |
Het |
Pygm |
T |
C |
19: 6,438,851 (GRCm39) |
S226P |
possibly damaging |
Het |
Rnf17 |
T |
A |
14: 56,671,828 (GRCm39) |
S273R |
probably benign |
Het |
Scamp2 |
T |
C |
9: 57,494,410 (GRCm39) |
V261A |
possibly damaging |
Het |
Slc7a12 |
T |
A |
3: 14,546,315 (GRCm39) |
F153L |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,667,186 (GRCm39) |
D1735E |
probably damaging |
Het |
Stk40 |
A |
G |
4: 126,017,507 (GRCm39) |
|
probably null |
Het |
Tas2r124 |
C |
T |
6: 132,732,497 (GRCm39) |
L269F |
possibly damaging |
Het |
Ubr1 |
C |
A |
2: 120,791,637 (GRCm39) |
A116S |
possibly damaging |
Het |
Unc13a |
T |
C |
8: 72,102,193 (GRCm39) |
K991R |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,657,138 (GRCm39) |
Y89C |
probably benign |
Het |
Vps13b |
A |
C |
15: 35,875,966 (GRCm39) |
I2784L |
probably damaging |
Het |
Zbtb26 |
T |
A |
2: 37,326,612 (GRCm39) |
K141N |
possibly damaging |
Het |
Zranb1 |
T |
A |
7: 132,552,126 (GRCm39) |
M259K |
probably damaging |
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 |
|
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 |
2016-08-02 |