Incidental Mutation 'IGL03132:Mfsd1'
ID |
410382 |
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 # |
IGL03132
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
67490101-67511564 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 67495273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 131
(I131K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029344]
|
AlphaFold |
Q9DC37 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029344
AA Change: I131K
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029344 Gene: ENSMUSG00000027775 AA Change: I131K
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
G |
A |
6: 88,815,941 (GRCm39) |
R177C |
probably benign |
Het |
Adam21 |
C |
A |
12: 81,607,148 (GRCm39) |
G205* |
probably null |
Het |
Baz2b |
T |
A |
2: 59,738,097 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,731,615 (GRCm39) |
G939D |
probably damaging |
Het |
Csf1r |
A |
G |
18: 61,261,171 (GRCm39) |
E749G |
probably benign |
Het |
Dnm3 |
C |
T |
1: 161,838,674 (GRCm39) |
|
probably null |
Het |
Dsg3 |
A |
G |
18: 20,657,653 (GRCm39) |
D241G |
probably damaging |
Het |
Dst |
T |
C |
1: 34,295,722 (GRCm39) |
S6015P |
probably benign |
Het |
Dvl2 |
T |
C |
11: 69,896,514 (GRCm39) |
S183P |
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,768,246 (GRCm39) |
N699S |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,144,746 (GRCm39) |
R4043G |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,232,819 (GRCm39) |
T278S |
possibly damaging |
Het |
Gm2a |
T |
A |
11: 54,994,474 (GRCm39) |
I48N |
probably damaging |
Het |
Gorasp2 |
T |
C |
2: 70,514,379 (GRCm39) |
V232A |
probably benign |
Het |
Gpa33 |
G |
A |
1: 165,980,218 (GRCm39) |
D94N |
probably benign |
Het |
Il1rap |
A |
T |
16: 26,498,869 (GRCm39) |
S123C |
probably damaging |
Het |
Kctd17 |
T |
C |
15: 78,319,887 (GRCm39) |
S102P |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,350,333 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
G |
A |
15: 44,438,013 (GRCm39) |
C3576Y |
probably damaging |
Het |
Pla2g4a |
A |
T |
1: 149,778,035 (GRCm39) |
|
probably benign |
Het |
Ptpn11 |
T |
A |
5: 121,272,878 (GRCm39) |
D575V |
possibly damaging |
Het |
Reck |
A |
T |
4: 43,938,898 (GRCm39) |
R755* |
probably null |
Het |
Scgb2b21 |
A |
G |
7: 33,219,299 (GRCm39) |
V35A |
possibly damaging |
Het |
Srpra |
G |
A |
9: 35,125,574 (GRCm39) |
|
probably null |
Het |
Stk11ip |
T |
C |
1: 75,512,733 (GRCm39) |
S1025P |
probably benign |
Het |
Tmprss9 |
G |
A |
10: 80,730,699 (GRCm39) |
V742M |
probably damaging |
Het |
Trh |
T |
C |
6: 92,220,755 (GRCm39) |
T36A |
probably benign |
Het |
Trim35 |
A |
G |
14: 66,546,595 (GRCm39) |
E454G |
probably damaging |
Het |
Vmn2r99 |
C |
T |
17: 19,598,485 (GRCm39) |
Q170* |
probably null |
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 |
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 |
2016-08-02 |