Incidental Mutation 'IGL02256:Tmem241'
| ID |
286587 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem241
|
| Ensembl Gene |
ENSMUSG00000049411 |
| Gene Name |
transmembrane protein 241 |
| Synonyms |
6030446N20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02256
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
12113193-12254604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12246489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 54
(W54R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050228]
[ENSMUST00000055447]
[ENSMUST00000092075]
[ENSMUST00000209859]
[ENSMUST00000211298]
|
| AlphaFold |
Q3UME2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050228
AA Change: W54R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062148
Gene: ENSMUSG00000049411
AA Change: W54R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
119 |
136 |
N/A |
INTRINSIC |
|
transmembrane domain
|
200 |
217 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055447
AA Change: W54R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052001
Gene: ENSMUSG00000049411
AA Change: W54R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
121 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
150 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
184 |
201 |
N/A |
INTRINSIC |
|
transmembrane domain
|
214 |
236 |
N/A |
INTRINSIC |
|
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092075
AA Change: W54R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089709
Gene: ENSMUSG00000049411
AA Change: W54R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
transmembrane domain
|
121 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
150 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209859
AA Change: W54R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210051
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211298
AA Change: W54R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211480
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
T |
A |
2: 91,599,399 (GRCm39) |
V173E |
possibly damaging |
Het |
| Dennd4c |
A |
G |
4: 86,717,778 (GRCm39) |
T592A |
probably damaging |
Het |
| Dhcr24 |
G |
A |
4: 106,429,517 (GRCm39) |
G197S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,369 (GRCm39) |
Y40C |
probably damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,806,085 (GRCm39) |
C310G |
probably benign |
Het |
| H2bc8 |
G |
T |
13: 23,755,609 (GRCm39) |
M1I |
probably null |
Het |
| Hdac10 |
T |
C |
15: 89,010,097 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
A |
G |
1: 128,263,465 (GRCm39) |
|
probably null |
Het |
| Mrpl19 |
G |
A |
6: 81,941,300 (GRCm39) |
T87I |
probably benign |
Het |
| Mzf1 |
A |
G |
7: 12,786,664 (GRCm39) |
|
probably benign |
Het |
| Nhlrc2 |
A |
G |
19: 56,585,793 (GRCm39) |
E676G |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,351,298 (GRCm39) |
D1899G |
probably damaging |
Het |
| Nxph1 |
A |
G |
6: 9,247,185 (GRCm39) |
D52G |
probably benign |
Het |
| Or10g9b |
A |
G |
9: 39,917,349 (GRCm39) |
F299L |
probably benign |
Het |
| Or10j2 |
A |
T |
1: 173,098,194 (GRCm39) |
I151F |
probably benign |
Het |
| Or2aj6 |
T |
C |
16: 19,443,756 (GRCm39) |
I31M |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
| Or8b49 |
G |
A |
9: 38,505,840 (GRCm39) |
V108I |
probably benign |
Het |
| Pax6 |
T |
C |
2: 105,515,115 (GRCm39) |
V54A |
probably benign |
Het |
| Pbx1 |
A |
T |
1: 168,011,171 (GRCm39) |
H376Q |
possibly damaging |
Het |
| Prpf4b |
T |
A |
13: 35,083,861 (GRCm39) |
C877S |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,336,649 (GRCm39) |
L373P |
probably damaging |
Het |
| Samd9l |
G |
A |
6: 3,376,197 (GRCm39) |
R355W |
probably damaging |
Het |
| Smarce1 |
A |
T |
11: 99,110,206 (GRCm39) |
N127K |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,070,990 (GRCm39) |
I1511V |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,863,549 (GRCm39) |
R2071H |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,070,311 (GRCm39) |
C2492S |
possibly damaging |
Het |
| Tbr1 |
C |
A |
2: 61,635,218 (GRCm39) |
T56N |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,668,149 (GRCm39) |
Y890* |
probably null |
Het |
| Tlr6 |
T |
C |
5: 65,112,287 (GRCm39) |
T207A |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,208,377 (GRCm39) |
V326A |
probably damaging |
Het |
| Trappc14 |
C |
A |
5: 138,258,577 (GRCm39) |
D557Y |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,323,669 (GRCm39) |
D372G |
possibly damaging |
Het |
| Zc3h7a |
A |
C |
16: 10,965,140 (GRCm39) |
S664R |
probably benign |
Het |
|
| Other mutations in Tmem241 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0106:Tmem241
|
UTSW |
18 |
12,239,066 (GRCm39) |
intron |
probably benign |
|
|
R1203:Tmem241
|
UTSW |
18 |
12,217,035 (GRCm39) |
splice site |
probably benign |
|
|
R1218:Tmem241
|
UTSW |
18 |
12,197,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1304:Tmem241
|
UTSW |
18 |
12,203,135 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1416:Tmem241
|
UTSW |
18 |
12,126,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1430:Tmem241
|
UTSW |
18 |
12,126,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1539:Tmem241
|
UTSW |
18 |
12,176,297 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1729:Tmem241
|
UTSW |
18 |
12,201,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1775:Tmem241
|
UTSW |
18 |
12,251,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3813:Tmem241
|
UTSW |
18 |
12,200,167 (GRCm39) |
splice site |
probably benign |
|
|
R4352:Tmem241
|
UTSW |
18 |
12,246,496 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4903:Tmem241
|
UTSW |
18 |
12,237,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Tmem241
|
UTSW |
18 |
12,237,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Tmem241
|
UTSW |
18 |
12,176,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5704:Tmem241
|
UTSW |
18 |
12,197,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6943:Tmem241
|
UTSW |
18 |
12,180,641 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7037:Tmem241
|
UTSW |
18 |
12,246,463 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7209:Tmem241
|
UTSW |
18 |
12,237,229 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8698:Tmem241
|
UTSW |
18 |
12,197,288 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9562:Tmem241
|
UTSW |
18 |
12,176,356 (GRCm39) |
nonsense |
probably null |
|
|
RF013:Tmem241
|
UTSW |
18 |
12,116,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation