Incidental Mutation 'IGL02182:Mfsd11'
| ID |
283292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfsd11
|
| Ensembl Gene |
ENSMUSG00000020818 |
| Gene Name |
major facilitator superfamily domain containing 11 |
| Synonyms |
2600014M03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
IGL02182
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116743266-116766461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116764740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 388
(V388E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021173]
[ENSMUST00000106363]
[ENSMUST00000106365]
[ENSMUST00000136012]
[ENSMUST00000139954]
[ENSMUST00000153084]
|
| AlphaFold |
Q8BJ51 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021173
AA Change: V440E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: V440E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
166 |
6.5e-56 |
PFAM |
|
transmembrane domain
|
173 |
190 |
N/A |
INTRINSIC |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
|
transmembrane domain
|
410 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106363
|
| SMART Domains |
Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
92 |
6e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106365
|
| SMART Domains |
Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
91 |
7.9e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136012
|
| SMART Domains |
Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
91 |
7.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139954
|
| SMART Domains |
Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
91 |
7.9e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153084
AA Change: V388E
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: V388E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UNC-93
|
14 |
115 |
7.4e-33 |
PFAM |
|
transmembrane domain
|
119 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
|
transmembrane domain
|
253 |
275 |
N/A |
INTRINSIC |
|
transmembrane domain
|
358 |
380 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,104,790 (GRCm39) |
N285I |
probably benign |
Het |
| Adprh |
T |
C |
16: 38,267,838 (GRCm39) |
H149R |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,580,643 (GRCm39) |
V1853A |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,603,868 (GRCm39) |
V905A |
possibly damaging |
Het |
| Atp10b |
T |
G |
11: 43,139,774 (GRCm39) |
L1234R |
probably damaging |
Het |
| Bco1 |
G |
A |
8: 117,859,805 (GRCm39) |
A503T |
probably damaging |
Het |
| Clxn |
T |
A |
16: 14,738,659 (GRCm39) |
D163E |
probably damaging |
Het |
| Cpz |
T |
A |
5: 35,675,066 (GRCm39) |
Y61F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dtd2 |
A |
G |
12: 52,046,492 (GRCm39) |
S116P |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,768,581 (GRCm39) |
D1498G |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,944,695 (GRCm39) |
V1196A |
probably damaging |
Het |
| Gm15557 |
T |
C |
2: 155,783,737 (GRCm39) |
D405G |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,074,436 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,075 (GRCm39) |
T160A |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,775 (GRCm39) |
I274V |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,255,272 (GRCm39) |
D238E |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,946,988 (GRCm39) |
H9R |
probably benign |
Het |
| Ppp3cc |
A |
C |
14: 70,462,473 (GRCm39) |
V388G |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,321,582 (GRCm39) |
C2626* |
probably null |
Het |
| Resp18 |
T |
C |
1: 75,250,615 (GRCm39) |
T155A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scarb2 |
C |
T |
5: 92,601,913 (GRCm39) |
S327N |
probably damaging |
Het |
| Secisbp2l |
T |
A |
2: 125,589,497 (GRCm39) |
I684F |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,734,347 (GRCm39) |
D114G |
probably damaging |
Het |
| Smap1 |
T |
A |
1: 23,898,180 (GRCm39) |
E85D |
probably damaging |
Het |
| Tas2r121 |
T |
A |
6: 132,677,133 (GRCm39) |
I280F |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,016,609 (GRCm39) |
V86A |
probably benign |
Het |
| Vip |
A |
T |
10: 5,593,561 (GRCm39) |
Y91F |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp618 |
G |
A |
4: 63,013,798 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mfsd11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Mfsd11
|
APN |
11 |
116,749,322 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL00809:Mfsd11
|
APN |
11 |
116,750,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01999:Mfsd11
|
APN |
11 |
116,752,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02582:Mfsd11
|
APN |
11 |
116,764,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02794:Mfsd11
|
APN |
11 |
116,750,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0416:Mfsd11
|
UTSW |
11 |
116,756,708 (GRCm39) |
splice site |
probably benign |
|
|
R1229:Mfsd11
|
UTSW |
11 |
116,764,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1397:Mfsd11
|
UTSW |
11 |
116,764,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Mfsd11
|
UTSW |
11 |
116,764,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2081:Mfsd11
|
UTSW |
11 |
116,752,381 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4554:Mfsd11
|
UTSW |
11 |
116,752,406 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5888:Mfsd11
|
UTSW |
11 |
116,762,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6959:Mfsd11
|
UTSW |
11 |
116,752,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7807:Mfsd11
|
UTSW |
11 |
116,754,733 (GRCm39) |
missense |
probably benign |
|
|
R7990:Mfsd11
|
UTSW |
11 |
116,750,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8073:Mfsd11
|
UTSW |
11 |
116,754,749 (GRCm39) |
missense |
probably benign |
|
|
R8692:Mfsd11
|
UTSW |
11 |
116,752,443 (GRCm39) |
missense |
probably benign |
|
|
R8851:Mfsd11
|
UTSW |
11 |
116,752,479 (GRCm39) |
missense |
probably benign |
|
|
R8887:Mfsd11
|
UTSW |
11 |
116,745,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8954:Mfsd11
|
UTSW |
11 |
116,750,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9151:Mfsd11
|
UTSW |
11 |
116,750,323 (GRCm39) |
missense |
|
|
|
R9318:Mfsd11
|
UTSW |
11 |
116,750,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9389:Mfsd11
|
UTSW |
11 |
116,764,161 (GRCm39) |
missense |
probably benign |
|
|
X0018:Mfsd11
|
UTSW |
11 |
116,744,911 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1176:Mfsd11
|
UTSW |
11 |
116,754,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation