Incidental Mutation 'R5280:Tmem260'
| ID |
404173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem260
|
| Ensembl Gene |
ENSMUSG00000036339 |
| Gene Name |
transmembrane protein 260 |
| Synonyms |
6720456H20Rik |
| MMRRC Submission |
042840-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5280 (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 C
at 48742716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 517
(V517A)
|
| 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: V517A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: V517A
| 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: V365A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: V365A
| 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: ENSMUST00000226344
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226422
AA Change: V517A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227440
AA Change: V517A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
C |
T |
17: 43,737,225 (GRCm39) |
T218I |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,545,584 (GRCm39) |
S5567I |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,474,813 (GRCm39) |
T397A |
probably benign |
Het |
| Atp9a |
T |
A |
2: 168,481,908 (GRCm39) |
Y880F |
possibly damaging |
Het |
| Celsr1 |
T |
C |
15: 85,814,747 (GRCm39) |
T1905A |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,442,582 (GRCm39) |
A656V |
possibly damaging |
Het |
| Dffa |
A |
G |
4: 149,202,391 (GRCm39) |
N265S |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,674,545 (GRCm39) |
D109G |
probably benign |
Het |
| Gm20821 |
A |
T |
Y: 9,783,963 (GRCm39) |
K195M |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,870 (GRCm39) |
N289K |
unknown |
Het |
| Kank1 |
T |
C |
19: 25,388,669 (GRCm39) |
F781L |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,232,329 (GRCm39) |
M759L |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,711,518 (GRCm39) |
Y307C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,037,168 (GRCm39) |
H6847R |
probably damaging |
Het |
| Or2ag19 |
G |
A |
7: 106,443,902 (GRCm39) |
C28Y |
probably benign |
Het |
| Or52ab4 |
T |
C |
7: 102,987,708 (GRCm39) |
V149A |
probably benign |
Het |
| Pcdha5 |
C |
A |
18: 37,094,755 (GRCm39) |
Y421* |
probably null |
Het |
| Pclo |
T |
A |
5: 14,590,731 (GRCm39) |
D1010E |
unknown |
Het |
| Pld2 |
A |
T |
11: 70,443,585 (GRCm39) |
D449V |
probably damaging |
Het |
| Ppfia1 |
C |
A |
7: 144,038,832 (GRCm39) |
M1032I |
possibly damaging |
Het |
| Prickle2 |
C |
A |
6: 92,353,191 (GRCm39) |
L758F |
probably damaging |
Het |
| Sarm1 |
A |
G |
11: 78,374,302 (GRCm39) |
V564A |
probably damaging |
Het |
| Taf1b |
C |
A |
12: 24,599,437 (GRCm39) |
F398L |
probably benign |
Het |
| Tll2 |
A |
G |
19: 41,105,696 (GRCm39) |
I361T |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,198,411 (GRCm39) |
K106E |
probably benign |
Het |
| Vcan |
C |
A |
13: 89,838,405 (GRCm39) |
V2380F |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,542 (GRCm39) |
S381P |
probably damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,507,155 (GRCm39) |
D719G |
probably damaging |
Het |
| Wdr5b |
T |
C |
16: 35,862,202 (GRCm39) |
V107A |
probably benign |
Het |
| Wdr7 |
G |
T |
18: 64,120,383 (GRCm39) |
V1475F |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,688 (GRCm39) |
D911G |
probably damaging |
Het |
| Zbtb32 |
T |
A |
7: 30,289,629 (GRCm39) |
E11V |
probably damaging |
Het |
| Zfp563 |
T |
G |
17: 33,323,812 (GRCm39) |
Y136D |
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 |
|
R5189:Tmem260
|
UTSW |
14 |
48,746,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- ACGGTTCTCATTGGTTCCAG -3'
(R):5'- AGCCGCCCATACCTTTCATAG -3'
Sequencing Primer
(F):5'- AGTTTGCTCCTTCCTGTAGTG -3'
(R):5'- AGGCCTCAGTCCAGTTATAGATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation