Incidental Mutation 'R5189:Tmem260'
ID |
405071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem260
|
Ensembl Gene |
ENSMUSG00000036339 |
Gene Name |
transmembrane protein 260 |
Synonyms |
6720456H20Rik |
MMRRC Submission |
042767-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5189 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
48683581-48761703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48746573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 616
(H616Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111735]
[ENSMUST00000124720]
[ENSMUST00000153765]
[ENSMUST00000226422]
[ENSMUST00000227440]
|
AlphaFold |
Q8BMD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111735
AA Change: H616Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000107364 Gene: ENSMUSG00000036339 AA Change: H616Q
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: H464Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000118376 Gene: ENSMUSG00000036339 AA Change: H464Q
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 benign
Transcript: ENSMUST00000226422
AA Change: H616Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227440
AA Change: H616Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
C |
T |
12: 71,240,123 (GRCm39) |
T1311I |
possibly damaging |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
4930505A04Rik |
T |
C |
11: 30,376,169 (GRCm39) |
T233A |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,697,573 (GRCm39) |
I859V |
probably benign |
Het |
Cacnb2 |
G |
T |
2: 14,990,849 (GRCm39) |
A644S |
possibly damaging |
Het |
Gatb |
T |
C |
3: 85,544,238 (GRCm39) |
V402A |
probably benign |
Het |
Gpcpd1 |
T |
C |
2: 132,395,892 (GRCm39) |
K153R |
probably damaging |
Het |
Hip1 |
A |
G |
5: 135,463,147 (GRCm39) |
L60S |
probably damaging |
Het |
Hsf4 |
GCAGCACCGGGTCA |
G |
8: 105,998,060 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
T |
8: 111,139,843 (GRCm39) |
|
probably null |
Het |
Igsf3 |
A |
T |
3: 101,338,843 (GRCm39) |
T386S |
possibly damaging |
Het |
Il12rb1 |
A |
G |
8: 71,263,702 (GRCm39) |
T88A |
possibly damaging |
Het |
Kank1 |
T |
C |
19: 25,401,545 (GRCm39) |
S1051P |
probably damaging |
Het |
Kap |
A |
G |
6: 133,828,879 (GRCm39) |
|
probably null |
Het |
Ly96 |
A |
G |
1: 16,771,091 (GRCm39) |
E74G |
probably damaging |
Het |
Map7d1 |
G |
T |
4: 126,136,097 (GRCm39) |
|
probably null |
Het |
Megf6 |
G |
T |
4: 154,336,980 (GRCm39) |
R253L |
probably benign |
Het |
Mex3b |
A |
G |
7: 82,518,459 (GRCm39) |
D258G |
probably damaging |
Het |
Mpzl3 |
T |
C |
9: 44,973,408 (GRCm39) |
I49T |
possibly damaging |
Het |
Myh15 |
C |
A |
16: 48,921,870 (GRCm39) |
T472N |
probably benign |
Het |
Nacad |
A |
G |
11: 6,551,611 (GRCm39) |
S527P |
probably damaging |
Het |
Nkx2-3 |
T |
G |
19: 43,601,147 (GRCm39) |
S70A |
probably benign |
Het |
Nkx2-6 |
A |
T |
14: 69,409,342 (GRCm39) |
Q31L |
probably benign |
Het |
Or6ae1 |
A |
G |
7: 139,742,632 (GRCm39) |
V77A |
probably damaging |
Het |
Pcdha6 |
A |
T |
18: 37,101,844 (GRCm39) |
N346Y |
probably damaging |
Het |
Pkd2 |
G |
A |
5: 104,607,785 (GRCm39) |
D95N |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,410,544 (GRCm39) |
T2684A |
probably damaging |
Het |
Plin2 |
A |
G |
4: 86,575,383 (GRCm39) |
Y389H |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc41a2 |
T |
C |
10: 83,149,275 (GRCm39) |
|
probably null |
Het |
Smg6 |
A |
G |
11: 74,932,822 (GRCm39) |
T1038A |
probably damaging |
Het |
Suds3 |
T |
C |
5: 117,238,664 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
T |
C |
1: 39,424,213 (GRCm39) |
H626R |
probably benign |
Het |
Trip10 |
A |
T |
17: 57,568,288 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
Vmn1r84 |
A |
T |
7: 12,096,385 (GRCm39) |
S103T |
probably benign |
Het |
Vps13a |
G |
T |
19: 16,662,679 (GRCm39) |
P1602Q |
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 |
|
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 |
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'- CACAGTGATGAGCCTTTTCCC -3'
(R):5'- GACCCTTAGCTTCAACACTGTTTG -3'
Sequencing Primer
(F):5'- GTGATGAGCCTTTTCCCAAAAC -3'
(R):5'- TGTGACACAACTGAATGCTCTC -3'
|
Posted On |
2016-07-22 |