Incidental Mutation 'R8429:Mfsd2b'
ID |
653665 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd2b
|
Ensembl Gene |
ENSMUSG00000037336 |
Gene Name |
MFSD2 lysolipid transporter B, sphingolipid |
Synonyms |
Gm1964, major facilitator superfamily domain containing 2B |
MMRRC Submission |
067774-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8429 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
4912440-4924359 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 4916487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 331
(Q331K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045921]
[ENSMUST00000085790]
[ENSMUST00000137337]
[ENSMUST00000147241]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045921
AA Change: Q331K
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045315 Gene: ENSMUSG00000037336 AA Change: Q331K
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
33 |
472 |
4.6e-74 |
PFAM |
low complexity region
|
476 |
490 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085790
AA Change: Q331K
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000082945 Gene: ENSMUSG00000037336 AA Change: Q331K
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
32 |
346 |
2.2e-56 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137337
AA Change: Q228K
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117057 Gene: ENSMUSG00000037336 AA Change: Q228K
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
1 |
368 |
1.1e-59 |
PFAM |
low complexity region
|
373 |
387 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147241
|
SMART Domains |
Protein: ENSMUSP00000114977 Gene: ENSMUSG00000037336
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
33 |
110 |
3.1e-13 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous KO reduces sphingosine-1-phosphate export from, and increases its accumulation in, red blood cells and platelets, and leads to reduced leukocyte, reticulocyte, and erythrocyte cell numbers. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
A |
T |
17: 48,347,875 (GRCm39) |
L143* |
probably null |
Het |
2900026A02Rik |
T |
C |
5: 113,331,302 (GRCm39) |
T971A |
probably benign |
Het |
Abca6 |
A |
T |
11: 110,093,208 (GRCm39) |
C1022S |
probably benign |
Het |
Adgrf4 |
G |
T |
17: 42,978,340 (GRCm39) |
N334K |
probably benign |
Het |
Baz1b |
A |
G |
5: 135,246,185 (GRCm39) |
K545E |
probably benign |
Het |
Bin3 |
A |
G |
14: 70,374,598 (GRCm39) |
Y209C |
probably damaging |
Het |
Btbd16 |
G |
A |
7: 130,397,067 (GRCm39) |
A223T |
probably benign |
Het |
C3 |
A |
G |
17: 57,529,811 (GRCm39) |
V555A |
probably damaging |
Het |
Calm3 |
T |
A |
7: 16,653,592 (GRCm39) |
|
probably null |
Het |
Cct4 |
T |
A |
11: 22,946,030 (GRCm39) |
L124Q |
probably damaging |
Het |
Cenpf |
C |
T |
1: 189,389,504 (GRCm39) |
D1443N |
possibly damaging |
Het |
Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
Epha4 |
G |
T |
1: 77,366,673 (GRCm39) |
Q591K |
probably benign |
Het |
Fanci |
T |
C |
7: 79,088,133 (GRCm39) |
F929L |
possibly damaging |
Het |
Fnip1 |
A |
T |
11: 54,366,522 (GRCm39) |
D95V |
possibly damaging |
Het |
Foxc1 |
A |
T |
13: 31,991,759 (GRCm39) |
H190L |
probably benign |
Het |
Gm45713 |
T |
C |
7: 44,785,540 (GRCm39) |
S2G |
unknown |
Het |
Grin2b |
T |
C |
6: 135,710,914 (GRCm39) |
I877M |
probably damaging |
Het |
Hadha |
T |
C |
5: 30,349,255 (GRCm39) |
I119V |
probably benign |
Het |
Hcar2 |
C |
T |
5: 124,003,538 (GRCm39) |
|
probably benign |
Het |
Irag2 |
C |
A |
6: 145,110,949 (GRCm39) |
D251E |
probably damaging |
Het |
Krt13 |
A |
T |
11: 100,011,951 (GRCm39) |
L124Q |
probably damaging |
Het |
Larp1b |
A |
G |
3: 40,931,662 (GRCm39) |
*336W |
probably null |
Het |
Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
Meioc |
A |
T |
11: 102,565,032 (GRCm39) |
N160I |
probably benign |
Het |
Mical2 |
T |
A |
7: 111,944,460 (GRCm39) |
V930E |
probably benign |
Het |
Mrgprb4 |
A |
T |
7: 47,848,173 (GRCm39) |
F252I |
probably benign |
Het |
Nars1 |
A |
G |
18: 64,634,391 (GRCm39) |
Y511H |
probably damaging |
Het |
Naxe |
C |
A |
3: 87,965,459 (GRCm39) |
S84I |
probably damaging |
Het |
Ncam2 |
A |
T |
16: 81,386,523 (GRCm39) |
D634V |
probably damaging |
Het |
Npat |
C |
T |
9: 53,481,909 (GRCm39) |
Q1206* |
probably null |
Het |
Nr1d2 |
G |
A |
14: 18,215,409 (GRCm38) |
T201I |
probably benign |
Het |
Nt5el |
A |
G |
13: 105,255,296 (GRCm39) |
Y459C |
probably damaging |
Het |
Nup155 |
C |
T |
15: 8,141,904 (GRCm39) |
H99Y |
probably damaging |
Het |
Or10ag60 |
G |
T |
2: 87,437,868 (GRCm39) |
L45F |
probably benign |
Het |
Or4f4b |
G |
A |
2: 111,313,840 (GRCm39) |
V50I |
possibly damaging |
Het |
Or5ac25 |
A |
G |
16: 59,181,990 (GRCm39) |
V197A |
possibly damaging |
Het |
Or9k2b |
A |
G |
10: 130,016,092 (GRCm39) |
V219A |
possibly damaging |
Het |
Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
Pde6a |
T |
A |
18: 61,365,916 (GRCm39) |
Y214N |
probably damaging |
Het |
Pex7 |
T |
C |
10: 19,770,074 (GRCm39) |
T145A |
probably damaging |
Het |
Plekhj1 |
C |
T |
10: 80,632,304 (GRCm39) |
S146N |
probably benign |
Het |
Ralgapb |
C |
T |
2: 158,268,217 (GRCm39) |
P107S |
probably damaging |
Het |
Satb1 |
A |
G |
17: 52,074,978 (GRCm39) |
M506T |
probably damaging |
Het |
Sh3gl1 |
T |
C |
17: 56,325,821 (GRCm39) |
N203D |
possibly damaging |
Het |
Slc7a12 |
A |
T |
3: 14,562,342 (GRCm39) |
I240F |
probably benign |
Het |
Spata31h1 |
G |
T |
10: 82,125,301 (GRCm39) |
Q2570K |
possibly damaging |
Het |
Syt17 |
T |
A |
7: 118,033,564 (GRCm39) |
Y144F |
probably benign |
Het |
Thbd |
G |
T |
2: 148,249,457 (GRCm39) |
T137K |
possibly damaging |
Het |
Tmem114 |
A |
G |
16: 8,230,031 (GRCm39) |
F124L |
probably damaging |
Het |
Ubtd1 |
G |
T |
19: 42,020,556 (GRCm39) |
|
probably null |
Het |
Zfp458 |
A |
G |
13: 67,406,152 (GRCm39) |
Y96H |
possibly damaging |
Het |
Zfp78 |
T |
C |
7: 6,381,492 (GRCm39) |
S181P |
probably benign |
Het |
|
Other mutations in Mfsd2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01810:Mfsd2b
|
APN |
12 |
4,916,469 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL03188:Mfsd2b
|
APN |
12 |
4,916,538 (GRCm39) |
splice site |
probably null |
|
IGL03339:Mfsd2b
|
APN |
12 |
4,924,335 (GRCm39) |
start codon destroyed |
probably null |
|
R0142:Mfsd2b
|
UTSW |
12 |
4,916,234 (GRCm39) |
missense |
probably benign |
0.11 |
R1468:Mfsd2b
|
UTSW |
12 |
4,920,536 (GRCm39) |
nonsense |
probably null |
|
R1468:Mfsd2b
|
UTSW |
12 |
4,920,536 (GRCm39) |
nonsense |
probably null |
|
R1535:Mfsd2b
|
UTSW |
12 |
4,920,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R1718:Mfsd2b
|
UTSW |
12 |
4,919,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R1894:Mfsd2b
|
UTSW |
12 |
4,919,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R2127:Mfsd2b
|
UTSW |
12 |
4,917,659 (GRCm39) |
missense |
probably benign |
0.01 |
R2392:Mfsd2b
|
UTSW |
12 |
4,915,164 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3737:Mfsd2b
|
UTSW |
12 |
4,920,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R3738:Mfsd2b
|
UTSW |
12 |
4,920,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R3739:Mfsd2b
|
UTSW |
12 |
4,920,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R3956:Mfsd2b
|
UTSW |
12 |
4,916,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R4035:Mfsd2b
|
UTSW |
12 |
4,920,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R4244:Mfsd2b
|
UTSW |
12 |
4,924,356 (GRCm39) |
utr 5 prime |
probably benign |
|
R4595:Mfsd2b
|
UTSW |
12 |
4,915,807 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4667:Mfsd2b
|
UTSW |
12 |
4,917,636 (GRCm39) |
missense |
probably benign |
0.01 |
R4723:Mfsd2b
|
UTSW |
12 |
4,918,992 (GRCm39) |
missense |
probably benign |
0.03 |
R5126:Mfsd2b
|
UTSW |
12 |
4,916,183 (GRCm39) |
missense |
probably benign |
0.30 |
R5145:Mfsd2b
|
UTSW |
12 |
4,915,908 (GRCm39) |
unclassified |
probably benign |
|
R5890:Mfsd2b
|
UTSW |
12 |
4,917,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R5976:Mfsd2b
|
UTSW |
12 |
4,916,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R6753:Mfsd2b
|
UTSW |
12 |
4,917,358 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6912:Mfsd2b
|
UTSW |
12 |
4,920,611 (GRCm39) |
nonsense |
probably null |
|
R7182:Mfsd2b
|
UTSW |
12 |
4,916,157 (GRCm39) |
critical splice donor site |
probably null |
|
R7472:Mfsd2b
|
UTSW |
12 |
4,916,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R8559:Mfsd2b
|
UTSW |
12 |
4,921,471 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8992:Mfsd2b
|
UTSW |
12 |
4,921,490 (GRCm39) |
missense |
probably benign |
|
R9410:Mfsd2b
|
UTSW |
12 |
4,915,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R9474:Mfsd2b
|
UTSW |
12 |
4,916,820 (GRCm39) |
missense |
possibly damaging |
0.91 |
X0062:Mfsd2b
|
UTSW |
12 |
4,915,170 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Mfsd2b
|
UTSW |
12 |
4,916,530 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Mfsd2b
|
UTSW |
12 |
4,915,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACAGACCTGTGAGCTGAC -3'
(R):5'- TTTAATCTCATTCCAGCCGAGGG -3'
Sequencing Primer
(F):5'- TGAGCTGACCCCTCACTG -3'
(R):5'- TTGGGGGCTAGGCTCAAAG -3'
|
Posted On |
2020-10-20 |