Incidental Mutation 'R8095:Mfsd2a'
ID |
630139 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd2a
|
Ensembl Gene |
ENSMUSG00000028655 |
Gene Name |
MFSD2 lysolipid transporter A, lysophospholipid |
Synonyms |
1700018O18Rik, Mfsd2, major facilitator superfamily domain containing 2A |
MMRRC Submission |
067527-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R8095 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
122840643-122854981 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 122845064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 216
(C216S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030408]
|
AlphaFold |
Q9DA75 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030408
AA Change: C216S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030408 Gene: ENSMUSG00000028655 AA Change: C216S
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.6%
|
Validation Efficiency |
100% (49/49) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,536,196 (GRCm39) |
I490M |
possibly damaging |
Het |
Abcc9 |
T |
C |
6: 142,590,048 (GRCm39) |
I817V |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,888,565 (GRCm39) |
L945P |
probably damaging |
Het |
Coa8 |
C |
A |
12: 111,689,218 (GRCm39) |
A100D |
probably damaging |
Het |
Crem |
T |
C |
18: 3,295,106 (GRCm39) |
T108A |
probably benign |
Het |
Cttnbp2 |
T |
A |
6: 18,435,432 (GRCm39) |
K142M |
probably damaging |
Het |
Cyp51 |
C |
T |
5: 4,136,490 (GRCm39) |
E435K |
probably benign |
Het |
Dnah14 |
G |
T |
1: 181,633,597 (GRCm39) |
E11* |
probably null |
Het |
Dpy19l1 |
T |
C |
9: 24,396,160 (GRCm39) |
|
probably null |
Het |
Dym |
A |
G |
18: 75,247,872 (GRCm39) |
T259A |
possibly damaging |
Het |
E030018B13Rik |
T |
G |
7: 63,569,049 (GRCm39) |
H32Q |
unknown |
Het |
Ehmt2 |
T |
G |
17: 35,126,745 (GRCm39) |
H809Q |
probably damaging |
Het |
Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
Fam98a |
C |
A |
17: 75,845,766 (GRCm39) |
D327Y |
probably damaging |
Het |
Foxf1 |
C |
T |
8: 121,813,551 (GRCm39) |
T357I |
probably benign |
Het |
Foxh1 |
T |
A |
15: 76,553,208 (GRCm39) |
R169* |
probably null |
Het |
Hydin |
T |
C |
8: 111,295,991 (GRCm39) |
F3568S |
probably damaging |
Het |
Il22 |
T |
C |
10: 118,041,028 (GRCm39) |
S45P |
possibly damaging |
Het |
Isyna1 |
C |
A |
8: 71,049,035 (GRCm39) |
Y371* |
probably null |
Het |
Lingo3 |
T |
C |
10: 80,671,255 (GRCm39) |
H225R |
probably benign |
Het |
Lmo7 |
T |
A |
14: 102,124,855 (GRCm39) |
V560E |
possibly damaging |
Het |
Mab21l2 |
A |
G |
3: 86,454,769 (GRCm39) |
V77A |
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,848,131 (GRCm39) |
K595R |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,496,126 (GRCm39) |
Y6688* |
probably null |
Het |
Or12j5 |
T |
C |
7: 140,084,192 (GRCm39) |
Y60C |
probably damaging |
Het |
Otud6b |
T |
C |
4: 14,825,614 (GRCm39) |
D72G |
probably damaging |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,924 (GRCm39) |
I211V |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,498,388 (GRCm39) |
|
probably null |
Het |
Sardh |
T |
C |
2: 27,132,730 (GRCm39) |
Y166C |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,132,809 (GRCm39) |
K171N |
possibly damaging |
Het |
Scyl2 |
G |
T |
10: 89,476,965 (GRCm39) |
T720K |
probably damaging |
Het |
Slc9a8 |
T |
A |
2: 167,310,891 (GRCm39) |
V384D |
probably damaging |
Het |
Slco1a8 |
T |
A |
6: 141,933,415 (GRCm39) |
I457F |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,772,285 (GRCm39) |
Y1490C |
unknown |
Het |
Snx16 |
A |
T |
3: 10,503,244 (GRCm39) |
M1K |
probably null |
Het |
Sqle |
A |
G |
15: 59,193,276 (GRCm39) |
S218G |
probably benign |
Het |
Strip1 |
A |
G |
3: 107,525,455 (GRCm39) |
I527T |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tnfsf13 |
A |
G |
11: 69,575,983 (GRCm39) |
C35R |
probably damaging |
Het |
Trf |
T |
C |
9: 103,087,735 (GRCm39) |
Y673C |
probably damaging |
Het |
Ttc39b |
C |
T |
4: 83,164,557 (GRCm39) |
A252T |
probably benign |
Het |
Tubgcp6 |
A |
T |
15: 89,006,977 (GRCm39) |
L15H |
probably benign |
Het |
Uspl1 |
C |
T |
5: 149,150,992 (GRCm39) |
Q731* |
probably null |
Het |
Vmn1r193 |
T |
C |
13: 22,403,231 (GRCm39) |
R254G |
possibly damaging |
Het |
Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp644 |
A |
C |
5: 106,766,280 (GRCm39) |
V1234G |
possibly damaging |
Het |
|
Other mutations in Mfsd2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01631:Mfsd2a
|
APN |
4 |
122,843,100 (GRCm39) |
missense |
probably benign |
0.32 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGACTACGTAGTGTGTGAC -3'
(R):5'- GAGCTAAGAGTGCCTTCCAG -3'
Sequencing Primer
(F):5'- AATTGCTGCAACTCACTGGG -3'
(R):5'- GAGCTAAGAGTGCCTTCCAGTCATC -3'
|
Posted On |
2020-06-30 |