Incidental Mutation 'R6671:Mfsd1'
| ID |
527127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd1
|
| Ensembl Gene |
ENSMUSG00000027775 |
| Gene Name |
major facilitator superfamily domain containing 1 |
| Synonyms |
1200003O06Rik |
| MMRRC Submission |
044791-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
67490101-67511564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67492995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 93
(V93A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029344]
|
| AlphaFold |
Q9DC37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029344
AA Change: V93A
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029344
Gene: ENSMUSG00000027775
AA Change: V93A
| 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
|
| Meta Mutation Damage Score |
0.4424 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
T |
C |
6: 131,528,313 (GRCm39) |
|
probably null |
Het |
| Abce1 |
A |
G |
8: 80,415,806 (GRCm39) |
V404A |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,686,359 (GRCm39) |
I990F |
probably damaging |
Het |
| Ddhd1 |
CA |
C |
14: 45,894,689 (GRCm39) |
|
probably null |
Het |
| Dnajb6 |
A |
G |
5: 29,953,418 (GRCm39) |
E17G |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,646,607 (GRCm39) |
D308G |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,662 (GRCm39) |
Y69H |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,245,691 (GRCm39) |
L414P |
probably damaging |
Het |
| Glmn |
T |
A |
5: 107,697,280 (GRCm39) |
M487L |
probably benign |
Het |
| Gm3404 |
C |
A |
5: 146,464,487 (GRCm39) |
R163S |
probably benign |
Het |
| Gm5591 |
T |
G |
7: 38,219,523 (GRCm39) |
D450A |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,941,715 (GRCm39) |
T575A |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,950 (GRCm39) |
V4819D |
probably damaging |
Het |
| Ikbip |
A |
G |
10: 90,932,469 (GRCm39) |
|
probably null |
Het |
| Mertk |
G |
T |
2: 128,593,943 (GRCm39) |
|
probably null |
Het |
| Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,299,333 (GRCm39) |
N269Y |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,926,420 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,576,877 (GRCm39) |
V125A |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,763,382 (GRCm39) |
I93T |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,525,154 (GRCm39) |
I484T |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,410,985 (GRCm39) |
I170N |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,434,706 (GRCm39) |
M904K |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,427,272 (GRCm39) |
K399M |
probably damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,254,529 (GRCm39) |
T432M |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Vps53 |
A |
G |
11: 76,025,332 (GRCm39) |
Y171H |
probably damaging |
Het |
| Zbtb8b |
C |
T |
4: 129,321,577 (GRCm39) |
R395Q |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,413 (GRCm39) |
C134S |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,573,042 (GRCm39) |
D403G |
probably damaging |
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 |
|
|
IGL02293:Mfsd1
|
APN |
3 |
67,505,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGTCGTAGCTTCCAGAGTC -3'
(R):5'- AAATCAACTCTTCGTGTCCACC -3'
Sequencing Primer
(F):5'- GTCGTAGCTTCCAGAGTCACAAG -3'
(R):5'- GTGTCCACCATATGTCAATTCACAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation