Incidental Mutation 'IGL03339:Mfsd2b'
| ID |
417161 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfsd2b
|
| Ensembl Gene |
ENSMUSG00000037336 |
| Gene Name |
MFSD2 lysolipid transporter B, sphingolipid |
| Synonyms |
Gm1964, major facilitator superfamily domain containing 2B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
4912440-4924359 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to C
at 4924335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020962]
[ENSMUST00000045921]
[ENSMUST00000085790]
[ENSMUST00000137337]
[ENSMUST00000147241]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020962
|
| SMART Domains |
Protein: ENSMUSP00000020962
Gene: ENSMUSG00000020634
| Domain | Start | End | E-Value | Type |
|---|
|
SEP
|
58 |
151 |
1.52e-25 |
SMART |
|
UBX
|
167 |
248 |
4.07e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045921
AA Change: M1R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045315
Gene: ENSMUSG00000037336
AA Change: M1R
| 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 |
probably null
Transcript: ENSMUST00000085790
AA Change: M1R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082945
Gene: ENSMUSG00000037336
AA Change: M1R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
32 |
346 |
2.2e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125344
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137337
|
| SMART Domains |
Protein: ENSMUSP00000117057
Gene: ENSMUSG00000037336
| 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 |
noncoding transcript
Transcript: ENSMUST00000143446
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147241
AA Change: M1R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114977
Gene: ENSMUSG00000037336
AA Change: M1R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
33 |
110 |
3.1e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150764
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
| A4gnt |
T |
C |
9: 99,502,601 (GRCm39) |
S254P |
probably damaging |
Het |
| Actn4 |
A |
G |
7: 28,601,407 (GRCm39) |
L447P |
probably damaging |
Het |
| Agbl2 |
C |
A |
2: 90,627,907 (GRCm39) |
S237R |
probably damaging |
Het |
| Apc |
G |
A |
18: 34,431,527 (GRCm39) |
D309N |
probably damaging |
Het |
| Arhgef3 |
A |
G |
14: 27,123,814 (GRCm39) |
M492V |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,121,442 (GRCm39) |
M1035K |
probably null |
Het |
| Cfap69 |
T |
A |
5: 5,636,436 (GRCm39) |
|
probably benign |
Het |
| Ctf1 |
A |
G |
7: 127,313,166 (GRCm39) |
N24S |
probably benign |
Het |
| Cx3cr1 |
T |
A |
9: 119,880,503 (GRCm39) |
K300* |
probably null |
Het |
| Ddx25 |
A |
T |
9: 35,453,299 (GRCm39) |
Y484N |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,499,734 (GRCm39) |
E506G |
possibly damaging |
Het |
| Ficd |
G |
T |
5: 113,876,800 (GRCm39) |
R325L |
probably benign |
Het |
| G6pc2 |
A |
G |
2: 69,051,239 (GRCm39) |
|
probably benign |
Het |
| Gm11168 |
C |
A |
9: 3,004,767 (GRCm39) |
P103T |
probably benign |
Het |
| Hbb-y |
A |
T |
7: 103,501,976 (GRCm39) |
H98Q |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,577,720 (GRCm39) |
S2014P |
probably benign |
Het |
| Hoxc5 |
T |
C |
15: 102,922,568 (GRCm39) |
Y19H |
probably damaging |
Het |
| Igfbpl1 |
A |
G |
4: 45,813,555 (GRCm39) |
|
probably benign |
Het |
| Ighg2c |
A |
C |
12: 113,251,614 (GRCm39) |
V171G |
unknown |
Het |
| Kctd13 |
A |
G |
7: 126,544,190 (GRCm39) |
D296G |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,380,360 (GRCm39) |
S811P |
probably benign |
Het |
| Or10al2 |
G |
A |
17: 37,983,448 (GRCm39) |
C178Y |
possibly damaging |
Het |
| Or10al3 |
G |
T |
17: 38,011,682 (GRCm39) |
M40I |
probably damaging |
Het |
| Or52r1 |
G |
A |
7: 102,536,989 (GRCm39) |
R124C |
probably benign |
Het |
| Or5b122 |
T |
G |
19: 13,563,439 (GRCm39) |
M257R |
probably damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,560,393 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
G |
T |
7: 116,017,256 (GRCm39) |
T167K |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,938 (GRCm39) |
D271G |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,333,830 (GRCm39) |
I3013T |
probably damaging |
Het |
| Rock1 |
A |
T |
18: 10,097,493 (GRCm39) |
M765K |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,325,945 (GRCm39) |
Y1244C |
probably benign |
Het |
| Taar7d |
T |
C |
10: 23,903,204 (GRCm39) |
C29R |
possibly damaging |
Het |
| Tlcd4 |
C |
T |
3: 121,022,489 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
C |
2: 76,572,264 (GRCm39) |
F26210V |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,877,534 (GRCm39) |
V145D |
probably damaging |
Het |
| Vmn1r219 |
T |
G |
13: 23,347,580 (GRCm39) |
S256R |
possibly damaging |
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 |
|
|
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 |
|
R8429:Mfsd2b
|
UTSW |
12 |
4,916,487 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation