Incidental Mutation 'R8842:Mfsd2a'
ID |
674466 |
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 |
068669-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R8842 (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 122845623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 176
(I176N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030408]
[ENSMUST00000127047]
|
AlphaFold |
Q9DA75 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030408
AA Change: I176N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030408 Gene: ENSMUSG00000028655 AA Change: I176N
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 |
probably benign
Transcript: ENSMUST00000127047
|
SMART Domains |
Protein: ENSMUSP00000116782 Gene: ENSMUSG00000028655
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
Pfam:MFS_2
|
42 |
106 |
2.7e-15 |
PFAM |
|
Meta Mutation Damage Score |
0.8609 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.1%
|
Validation Efficiency |
100% (50/50) |
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 |
Arhgap17 |
G |
A |
7: 122,893,750 (GRCm39) |
P557S |
probably benign |
Het |
Atad5 |
G |
T |
11: 80,000,910 (GRCm39) |
D1014Y |
possibly damaging |
Het |
Bmp6 |
T |
A |
13: 38,530,359 (GRCm39) |
S151T |
probably benign |
Het |
Bmp6 |
C |
T |
13: 38,682,795 (GRCm39) |
Q459* |
probably null |
Het |
Ccdc39 |
A |
G |
3: 33,880,612 (GRCm39) |
Y452H |
probably damaging |
Het |
Cenpj |
A |
G |
14: 56,780,329 (GRCm39) |
Y961H |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,655,166 (GRCm39) |
Y852N |
probably damaging |
Het |
Cpne8 |
A |
G |
15: 90,456,218 (GRCm39) |
I156T |
probably benign |
Het |
Cul1 |
T |
A |
6: 47,492,010 (GRCm39) |
L430Q |
probably damaging |
Het |
Dhx30 |
A |
G |
9: 109,914,296 (GRCm39) |
S1031P |
probably benign |
Het |
Dhx9 |
A |
T |
1: 153,338,335 (GRCm39) |
F774I |
possibly damaging |
Het |
Fezf2 |
A |
C |
14: 12,345,079 (GRCm38) |
M36R |
probably damaging |
Het |
Gbp2b |
A |
T |
3: 142,312,576 (GRCm39) |
I320L |
probably benign |
Het |
Gemin6 |
T |
A |
17: 80,533,115 (GRCm39) |
V16D |
possibly damaging |
Het |
Gpr158 |
T |
A |
2: 21,581,751 (GRCm39) |
V410D |
possibly damaging |
Het |
H2-DMb2 |
C |
T |
17: 34,366,904 (GRCm39) |
T112M |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,990,033 (GRCm39) |
T114A |
|
Het |
Herc2 |
G |
T |
7: 55,738,059 (GRCm39) |
R234L |
probably damaging |
Het |
Igsf11 |
A |
G |
16: 38,829,243 (GRCm39) |
I46V |
probably benign |
Het |
Izumo1r |
C |
T |
9: 14,813,705 (GRCm39) |
G38S |
possibly damaging |
Het |
Katna1 |
A |
G |
10: 7,614,600 (GRCm39) |
D36G |
probably benign |
Het |
Kdm1b |
G |
T |
13: 47,231,832 (GRCm39) |
R697L |
probably damaging |
Het |
Kif1b |
T |
A |
4: 149,338,196 (GRCm39) |
I483F |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
G |
A |
2: 41,158,417 (GRCm39) |
T1714I |
|
Het |
Man2a2 |
A |
G |
7: 80,003,067 (GRCm39) |
L1014P |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,935,169 (GRCm39) |
E1533G |
probably damaging |
Het |
Mterf1b |
T |
A |
5: 4,246,961 (GRCm39) |
F201I |
possibly damaging |
Het |
Neurod2 |
T |
C |
11: 98,218,507 (GRCm39) |
E219G |
probably damaging |
Het |
Nln |
T |
C |
13: 104,209,486 (GRCm39) |
E29G |
probably benign |
Het |
Obscn |
G |
A |
11: 58,892,861 (GRCm39) |
T6795M |
possibly damaging |
Het |
Or1e1c |
G |
T |
11: 73,266,186 (GRCm39) |
V207F |
probably benign |
Het |
Or1i2 |
A |
G |
10: 78,447,635 (GRCm39) |
V280A |
possibly damaging |
Het |
Or1n1 |
C |
A |
2: 36,749,539 (GRCm39) |
A274S |
probably benign |
Het |
Or4c118 |
C |
T |
2: 88,975,074 (GRCm39) |
V98I |
probably benign |
Het |
Otog |
A |
T |
7: 45,895,948 (GRCm39) |
I138F |
probably damaging |
Het |
Pdcd2l |
G |
A |
7: 33,884,192 (GRCm39) |
Q337* |
probably null |
Het |
Ptprk |
A |
T |
10: 28,442,497 (GRCm39) |
N859I |
probably damaging |
Het |
Pygl |
G |
T |
12: 70,274,368 (GRCm39) |
|
probably benign |
Het |
Sema4d |
C |
T |
13: 51,863,018 (GRCm39) |
A447T |
probably benign |
Het |
Slc27a6 |
A |
T |
18: 58,712,888 (GRCm39) |
S237C |
probably benign |
Het |
Smarcc1 |
G |
A |
9: 110,051,199 (GRCm39) |
M1006I |
possibly damaging |
Het |
Sult2a2 |
G |
T |
7: 13,472,192 (GRCm39) |
G130C |
probably damaging |
Het |
Trpm7 |
T |
A |
2: 126,663,131 (GRCm39) |
H1039L |
probably benign |
Het |
Wdr64 |
T |
G |
1: 175,599,893 (GRCm39) |
N573K |
probably benign |
Het |
Zbtb48 |
T |
C |
4: 152,104,496 (GRCm39) |
I611V |
probably benign |
Het |
Zer1 |
T |
C |
2: 30,001,062 (GRCm39) |
S120G |
possibly damaging |
Het |
Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
probably 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 |
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 |
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'- GGCAGTTGACATTTCAGCC -3'
(R):5'- TCTTTGAGACACTGGTCACGG -3'
Sequencing Primer
(F):5'- TGCTTGACAGACACAAGGCTCTAG -3'
(R):5'- TGCATCTAACCAGCTGAG -3'
|
Posted On |
2021-07-15 |