Incidental Mutation 'IGL01631:Mfsd2a'
| ID |
93456 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfsd2a
|
| Ensembl Gene |
ENSMUSG00000028655 |
| Gene Name |
MFSD2 lysolipid transporter A, lysophospholipid |
| Synonyms |
1700018O18Rik, Mfsd2, major facilitator superfamily domain containing 2A |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
IGL01631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
122840643-122854981 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 122843100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 394
(A394S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030408]
|
| AlphaFold |
Q9DA75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030408
AA Change: A394S
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030408
Gene: ENSMUSG00000028655
AA Change: A394S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
Pfam:MFS_2
|
44 |
500 |
1.7e-96 |
PFAM |
|
Pfam:MFS_1
|
57 |
450 |
9.3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152308
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a null allele show partial postnatal lethality, reduced body weight, ataxia, and alterations in lipid metabolism and photoreceptor cell development. Homozygotes for a different null allele show a leaky blood-brain barrier and increased CNS-endothelial-cell vesicular transcytosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apip |
C |
A |
2: 102,904,194 (GRCm39) |
|
probably benign |
Het |
| Arid4a |
C |
T |
12: 71,069,036 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,847,666 (GRCm39) |
E98D |
probably damaging |
Het |
| Cactin |
A |
G |
10: 81,159,058 (GRCm39) |
E303G |
probably benign |
Het |
| Ccdc181 |
T |
A |
1: 164,107,713 (GRCm39) |
I132K |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,608,472 (GRCm39) |
E756G |
probably damaging |
Het |
| Ctsf |
T |
C |
19: 4,908,106 (GRCm39) |
L217P |
probably damaging |
Het |
| Dmp1 |
G |
T |
5: 104,360,734 (GRCm39) |
R470L |
probably benign |
Het |
| Dnajc9 |
T |
C |
14: 20,438,176 (GRCm39) |
D142G |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,661 (GRCm39) |
R84S |
probably benign |
Het |
| Gm1110 |
A |
T |
9: 26,809,212 (GRCm39) |
|
probably null |
Het |
| Has2 |
A |
G |
15: 56,545,072 (GRCm39) |
S177P |
possibly damaging |
Het |
| Herc6 |
C |
T |
6: 57,581,092 (GRCm39) |
S264F |
probably benign |
Het |
| Il1rl2 |
T |
A |
1: 40,395,974 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
G |
12: 84,855,920 (GRCm39) |
|
probably null |
Het |
| Map4 |
A |
G |
9: 109,892,201 (GRCm39) |
|
probably benign |
Het |
| Marchf4 |
T |
A |
1: 72,491,690 (GRCm39) |
K194* |
probably null |
Het |
| Megf10 |
A |
G |
18: 57,392,869 (GRCm39) |
D422G |
possibly damaging |
Het |
| Mmp27 |
T |
C |
9: 7,573,289 (GRCm39) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 123,161,560 (GRCm39) |
Y370H |
possibly damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,129 (GRCm39) |
D189G |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,089,015 (GRCm39) |
H111R |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,088,220 (GRCm39) |
H859Y |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,479,399 (GRCm39) |
E1209D |
probably benign |
Het |
| Rhot1 |
C |
T |
11: 80,156,600 (GRCm39) |
T636M |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,163,342 (GRCm39) |
A19S |
possibly damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,101,569 (GRCm39) |
S657L |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,101,570 (GRCm39) |
S657T |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,077,714 (GRCm39) |
T450A |
probably benign |
Het |
| Slc25a1 |
C |
T |
16: 17,743,930 (GRCm39) |
C262Y |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,104,361 (GRCm39) |
S288P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,744 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,724,495 (GRCm39) |
I228M |
probably damaging |
Het |
| Ssu2 |
T |
C |
6: 112,351,843 (GRCm39) |
Y294C |
probably damaging |
Het |
| Terb1 |
A |
G |
8: 105,199,496 (GRCm39) |
S483P |
probably damaging |
Het |
| Tsga13 |
T |
C |
6: 30,890,501 (GRCm39) |
K8E |
possibly damaging |
Het |
| Zbbx |
T |
G |
3: 74,985,984 (GRCm39) |
D351A |
probably damaging |
Het |
| Zfp454 |
G |
T |
11: 50,774,562 (GRCm39) |
A37D |
probably benign |
Het |
|
| Other mutations in Mfsd2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02756:Mfsd2a
|
APN |
4 |
122,842,332 (GRCm39) |
missense |
probably benign |
0.30 |
|
azure
|
UTSW |
4 |
122,845,814 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0355:Mfsd2a
|
UTSW |
4 |
122,845,632 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0394:Mfsd2a
|
UTSW |
4 |
122,843,961 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2002:Mfsd2a
|
UTSW |
4 |
122,850,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Mfsd2a
|
UTSW |
4 |
122,844,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2943:Mfsd2a
|
UTSW |
4 |
122,842,382 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3052:Mfsd2a
|
UTSW |
4 |
122,845,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Mfsd2a
|
UTSW |
4 |
122,853,175 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4977:Mfsd2a
|
UTSW |
4 |
122,844,302 (GRCm39) |
missense |
probably benign |
|
|
R5030:Mfsd2a
|
UTSW |
4 |
122,843,949 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5231:Mfsd2a
|
UTSW |
4 |
122,853,094 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5735:Mfsd2a
|
UTSW |
4 |
122,843,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6173:Mfsd2a
|
UTSW |
4 |
122,845,039 (GRCm39) |
missense |
probably benign |
|
|
R6321:Mfsd2a
|
UTSW |
4 |
122,843,165 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6433:Mfsd2a
|
UTSW |
4 |
122,844,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6736:Mfsd2a
|
UTSW |
4 |
122,845,054 (GRCm39) |
missense |
probably benign |
|
|
R6793:Mfsd2a
|
UTSW |
4 |
122,844,498 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7073:Mfsd2a
|
UTSW |
4 |
122,845,088 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7255:Mfsd2a
|
UTSW |
4 |
122,845,814 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7382:Mfsd2a
|
UTSW |
4 |
122,845,916 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7868:Mfsd2a
|
UTSW |
4 |
122,850,648 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8095:Mfsd2a
|
UTSW |
4 |
122,845,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8136:Mfsd2a
|
UTSW |
4 |
122,845,660 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8140:Mfsd2a
|
UTSW |
4 |
122,843,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8832:Mfsd2a
|
UTSW |
4 |
122,843,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8842:Mfsd2a
|
UTSW |
4 |
122,845,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9048:Mfsd2a
|
UTSW |
4 |
122,854,768 (GRCm39) |
missense |
probably benign |
|
|
R9084:Mfsd2a
|
UTSW |
4 |
122,843,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mfsd2a
|
UTSW |
4 |
122,853,104 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1176:Mfsd2a
|
UTSW |
4 |
122,845,632 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Posted On |
2013-12-09 |
Incidental Mutation