Incidental Mutation 'R9634:Tmem260'
| ID |
725726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem260
|
| Ensembl Gene |
ENSMUSG00000036339 |
| Gene Name |
transmembrane protein 260 |
| Synonyms |
6720456H20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9634 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
48683581-48761703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48709816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 123
(A123E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111735]
[ENSMUST00000124720]
[ENSMUST00000153765]
[ENSMUST00000226422]
[ENSMUST00000227440]
[ENSMUST00000228697]
|
| AlphaFold |
Q8BMD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111735
AA Change: A123E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: A123E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
| 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 |
probably damaging
Transcript: ENSMUST00000226422
AA Change: A123E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227440
AA Change: A123E
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228697
AA Change: A13E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
A |
11: 84,184,816 (GRCm39) |
D1277E |
probably benign |
Het |
| Anapc7 |
T |
C |
5: 122,560,689 (GRCm39) |
S17P |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,060,332 (GRCm39) |
F909S |
probably damaging |
Het |
| Ccnb1 |
G |
A |
13: 100,920,112 (GRCm39) |
A133V |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,832,499 (GRCm39) |
T1125A |
probably damaging |
Het |
| Cyc1 |
A |
G |
15: 76,227,794 (GRCm39) |
T11A |
probably benign |
Het |
| Ddx59 |
G |
A |
1: 136,347,214 (GRCm39) |
A291T |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,338,387 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,169,585 (GRCm39) |
D1952G |
probably damaging |
Het |
| Dpf3 |
A |
G |
12: 83,378,635 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,964,663 (GRCm39) |
I340V |
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,761,230 (GRCm39) |
H410R |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,856,579 (GRCm39) |
K596* |
probably null |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Gbp7 |
T |
A |
3: 142,242,115 (GRCm39) |
V83E |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,601,877 (GRCm39) |
V169A |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,682,723 (GRCm39) |
H303R |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,027,727 (GRCm39) |
*734R |
probably null |
Het |
| Il2ra |
C |
T |
2: 11,685,227 (GRCm39) |
R188* |
probably null |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,318,606 (GRCm39) |
T210A |
|
Het |
| Itpkc |
A |
G |
7: 26,913,880 (GRCm39) |
I527T |
probably benign |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Loxl3 |
C |
T |
6: 83,027,835 (GRCm39) |
T749I |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,135,951 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
A |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
| Nkain2 |
G |
A |
10: 32,766,262 (GRCm39) |
P66L |
unknown |
Het |
| Nubpl |
T |
C |
12: 52,349,494 (GRCm39) |
F242L |
probably benign |
Het |
| Or4f4-ps1 |
T |
C |
2: 111,330,131 (GRCm39) |
V178A |
possibly damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,907 (GRCm39) |
S215P |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,568,869 (GRCm39) |
I273T |
probably benign |
Het |
| Paip2b |
T |
C |
6: 83,787,023 (GRCm39) |
D71G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,152 (GRCm39) |
E1584G |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,152,196 (GRCm39) |
D271G |
probably damaging |
Het |
| Prkag2 |
A |
G |
5: 25,074,238 (GRCm39) |
I489T |
possibly damaging |
Het |
| Ptpn2 |
C |
T |
18: 67,808,789 (GRCm39) |
|
probably null |
Het |
| Rims3 |
G |
A |
4: 120,748,517 (GRCm39) |
R246H |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,907,590 (GRCm39) |
T1466P |
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,926,531 (GRCm39) |
E3G |
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,978 (GRCm39) |
S151P |
unknown |
Het |
| Trim45 |
T |
C |
3: 100,839,306 (GRCm39) |
V736A |
unknown |
Het |
| Vps8 |
T |
C |
16: 21,372,893 (GRCm39) |
L1033P |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
A |
G |
18: 45,006,037 (GRCm39) |
T1177A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,056 (GRCm39) |
Y194H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACAGGCTTGCTGACTTG -3'
(R):5'- CCCGACTTCACTTTGATCAAAATAG -3'
Sequencing Primer
(F):5'- TGACAGGTGGGCTTCCTAAC -3'
(R):5'- CAAAATAGCTTACCTTTGATCTCTCC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation