Incidental Mutation 'IGL02293:Mfsd1'
| ID |
290112 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfsd1
|
| Ensembl Gene |
ENSMUSG00000027775 |
| Gene Name |
major facilitator superfamily domain containing 1 |
| Synonyms |
1200003O06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
67490101-67511564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67505425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 380
(V380D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029344]
|
| AlphaFold |
Q9DC37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029344
AA Change: V380D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029344
Gene: ENSMUSG00000027775
AA Change: V380D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
45 |
404 |
2.3e-31 |
PFAM |
|
Pfam:MFS_2
|
175 |
443 |
2.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192776
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,340 (GRCm39) |
K135R |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,792,929 (GRCm39) |
A1390V |
possibly damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,559 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
T |
A |
11: 78,162,736 (GRCm39) |
L866H |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,784,785 (GRCm39) |
I217K |
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,777,973 (GRCm39) |
T158I |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,110,633 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
G |
10: 18,016,259 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,033 (GRCm39) |
N87S |
probably benign |
Het |
| Endov |
T |
C |
11: 119,395,999 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs7 |
A |
G |
17: 20,334,232 (GRCm39) |
V86A |
probably benign |
Het |
| Gle1 |
A |
G |
2: 29,847,772 (GRCm39) |
I660V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,720,956 (GRCm39) |
D159E |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,666 (GRCm39) |
V2881A |
probably damaging |
Het |
| Hspa14 |
T |
C |
2: 3,512,071 (GRCm39) |
K68E |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,551,314 (GRCm39) |
I974N |
probably damaging |
Het |
| Igkv4-71 |
A |
C |
6: 69,220,306 (GRCm39) |
S42A |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klhl32 |
A |
G |
4: 24,626,935 (GRCm39) |
Y555H |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,172,276 (GRCm39) |
S357P |
probably benign |
Het |
| Ndc80 |
A |
G |
17: 71,821,273 (GRCm39) |
F225S |
probably damaging |
Het |
| Or2ak7 |
T |
C |
11: 58,574,996 (GRCm39) |
V99A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,940,874 (GRCm39) |
V1355A |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,536,761 (GRCm39) |
S108P |
probably damaging |
Het |
| Ptges3 |
C |
T |
10: 127,911,204 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
G |
T |
14: 55,959,153 (GRCm39) |
L5M |
probably benign |
Het |
| Rag1 |
C |
T |
2: 101,473,391 (GRCm39) |
D584N |
probably benign |
Het |
| Rasl12 |
A |
G |
9: 65,315,593 (GRCm39) |
D79G |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,422,186 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,666,268 (GRCm39) |
L483P |
probably benign |
Het |
|
| Other mutations in Mfsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01781:Mfsd1
|
APN |
3 |
67,495,244 (GRCm39) |
splice site |
probably benign |
|
|
IGL02186:Mfsd1
|
APN |
3 |
67,503,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02209:Mfsd1
|
APN |
3 |
67,505,465 (GRCm39) |
splice site |
probably benign |
|
|
IGL03132:Mfsd1
|
APN |
3 |
67,495,273 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
edelweiss
|
UTSW |
3 |
67,503,936 (GRCm39) |
nonsense |
probably null |
|
|
Schneeweiss
|
UTSW |
3 |
67,492,995 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
white
|
UTSW |
3 |
67,497,162 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0948:Mfsd1
|
UTSW |
3 |
67,504,067 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2355:Mfsd1
|
UTSW |
3 |
67,508,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3407:Mfsd1
|
UTSW |
3 |
67,504,046 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3408:Mfsd1
|
UTSW |
3 |
67,504,046 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3729:Mfsd1
|
UTSW |
3 |
67,490,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3749:Mfsd1
|
UTSW |
3 |
67,490,286 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4405:Mfsd1
|
UTSW |
3 |
67,507,943 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4867:Mfsd1
|
UTSW |
3 |
67,495,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5429:Mfsd1
|
UTSW |
3 |
67,507,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5456:Mfsd1
|
UTSW |
3 |
67,497,166 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5892:Mfsd1
|
UTSW |
3 |
67,497,162 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6091:Mfsd1
|
UTSW |
3 |
67,507,270 (GRCm39) |
splice site |
probably null |
|
|
R6120:Mfsd1
|
UTSW |
3 |
67,501,718 (GRCm39) |
nonsense |
probably null |
|
|
R6671:Mfsd1
|
UTSW |
3 |
67,492,995 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6752:Mfsd1
|
UTSW |
3 |
67,503,936 (GRCm39) |
nonsense |
probably null |
|
|
R6799:Mfsd1
|
UTSW |
3 |
67,507,314 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7117:Mfsd1
|
UTSW |
3 |
67,507,391 (GRCm39) |
splice site |
probably null |
|
|
R9748:Mfsd1
|
UTSW |
3 |
67,499,910 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2015-04-16 |
Incidental Mutation