Incidental Mutation 'R3408:Mfsd1'
ID |
258358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd1
|
Ensembl Gene |
ENSMUSG00000027775 |
Gene Name |
major facilitator superfamily domain containing 1 |
Synonyms |
1200003O06Rik |
MMRRC Submission |
040626-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3408 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
67490101-67511564 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 67504046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 346
(M346K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029344]
|
AlphaFold |
Q9DC37 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029344
AA Change: M346K
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000029344 Gene: ENSMUSG00000027775 AA Change: M346K
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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 89.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430550D23Rik |
C |
T |
2: 155,845,840 (GRCm39) |
V6I |
probably benign |
Het |
Adam17 |
T |
A |
12: 21,379,119 (GRCm39) |
K643N |
probably damaging |
Het |
Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
E2f7 |
C |
T |
10: 110,620,578 (GRCm39) |
T865M |
possibly damaging |
Het |
Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
Ephb3 |
T |
A |
16: 21,038,254 (GRCm39) |
Y341N |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,930,223 (GRCm39) |
V241E |
probably damaging |
Het |
Gpi1 |
A |
G |
7: 33,902,104 (GRCm39) |
V500A |
probably damaging |
Het |
Ilk |
A |
T |
7: 105,390,181 (GRCm39) |
M155L |
probably benign |
Het |
Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,275,574 (GRCm39) |
Q6283R |
probably damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
T |
7: 97,730,294 (GRCm39) |
F758Y |
probably benign |
Het |
Nalcn |
T |
A |
14: 123,834,029 (GRCm39) |
S49C |
probably null |
Het |
Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
Nr5a2 |
C |
T |
1: 136,868,236 (GRCm39) |
A299T |
probably benign |
Het |
Or10ag60 |
A |
T |
2: 87,438,220 (GRCm39) |
I163L |
probably benign |
Het |
Or4g16 |
A |
T |
2: 111,136,850 (GRCm39) |
Q100L |
probably damaging |
Het |
Or51q1c |
G |
T |
7: 103,652,550 (GRCm39) |
E23* |
probably null |
Het |
Or9s23 |
A |
G |
1: 92,501,675 (GRCm39) |
T261A |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
Plekhg5 |
A |
G |
4: 152,192,749 (GRCm39) |
T559A |
probably damaging |
Het |
Rfx2 |
G |
T |
17: 57,110,526 (GRCm39) |
D153E |
probably benign |
Het |
Sh3bp4 |
G |
T |
1: 89,072,769 (GRCm39) |
C539F |
possibly damaging |
Het |
Slco1b2 |
A |
T |
6: 141,621,982 (GRCm39) |
H479L |
probably benign |
Het |
Spmip9 |
C |
T |
6: 70,892,690 (GRCm39) |
S19N |
possibly damaging |
Het |
Tmem150b |
G |
T |
7: 4,727,339 (GRCm39) |
F55L |
probably damaging |
Het |
Vmn1r60 |
A |
T |
7: 5,548,148 (GRCm39) |
|
probably null |
Het |
Vmn2r80 |
C |
T |
10: 79,004,227 (GRCm39) |
L147F |
possibly damaging |
Het |
Vps50 |
A |
T |
6: 3,600,212 (GRCm39) |
K890N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGAGGAGCGAGGCTTTGC -3'
(R):5'- GCACTGAAGATTCCCTACTAAATAAGC -3'
Sequencing Primer
(F):5'- AGCGAGGCTTTGCTTTGG -3'
(R):5'- GATTCCCTACTAAATAAGCCAACTG -3'
|
Posted On |
2015-01-23 |