Incidental Mutation 'R4244:Mfsd2b'
| ID |
374397 |
| 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 |
041060-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4244 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4912440-4924359 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
G to T
at 4924356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020962]
[ENSMUST00000045921]
[ENSMUST00000085790]
[ENSMUST00000137337]
[ENSMUST00000142867]
[ENSMUST00000147241]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000045921
|
| SMART Domains |
Protein: ENSMUSP00000045315
Gene: ENSMUSG00000037336
| 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 benign
Transcript: ENSMUST00000085790
|
| SMART Domains |
Protein: ENSMUSP00000082945
Gene: ENSMUSG00000037336
| 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 |
probably benign
Transcript: ENSMUST00000142867
|
| SMART Domains |
Protein: ENSMUSP00000118834
Gene: ENSMUSG00000020634
| Domain | Start | End | E-Value | Type |
|---|
|
SEP
|
58 |
151 |
1.52e-25 |
SMART |
|
UBX
|
167 |
248 |
4.07e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150764
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,560,122 (GRCm39) |
S281N |
probably benign |
Het |
| Arfgef3 |
C |
A |
10: 18,506,168 (GRCm39) |
G878V |
probably damaging |
Het |
| Ccdc137 |
T |
C |
11: 120,352,844 (GRCm39) |
F196S |
probably damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,296,838 (GRCm39) |
Q214* |
probably null |
Het |
| Ccrl2 |
T |
C |
9: 110,884,422 (GRCm39) |
I359V |
probably benign |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,482,521 (GRCm38) |
T551A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,714,361 (GRCm39) |
T1683K |
unknown |
Het |
| Copa |
A |
G |
1: 171,938,285 (GRCm39) |
I524V |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,012,031 (GRCm39) |
F1348L |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 105,002,629 (GRCm39) |
K5664I |
probably damaging |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9892 |
A |
T |
8: 52,649,435 (GRCm39) |
|
noncoding transcript |
Het |
| Grm4 |
A |
G |
17: 27,721,709 (GRCm39) |
I144T |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krt28 |
G |
T |
11: 99,265,376 (GRCm39) |
S97Y |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
| Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
| Or2y3 |
C |
T |
17: 38,393,321 (GRCm39) |
V183I |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,979,632 (GRCm39) |
T244A |
probably benign |
Het |
| Prex1 |
G |
A |
2: 166,412,256 (GRCm39) |
R392W |
probably damaging |
Het |
| Ptpn5 |
C |
T |
7: 46,741,296 (GRCm39) |
W38* |
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
| Sh3d21 |
C |
T |
4: 126,044,511 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Slc5a5 |
A |
G |
8: 71,342,930 (GRCm39) |
V210A |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,558,291 (GRCm39) |
C239R |
probably damaging |
Het |
| Sp5 |
T |
C |
2: 70,307,382 (GRCm39) |
F356L |
probably damaging |
Het |
| Spaca9 |
T |
C |
2: 28,582,998 (GRCm39) |
I141V |
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,485,107 (GRCm39) |
L763H |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,649,112 (GRCm39) |
|
probably benign |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACAAAGTGCTGTGGTAG -3'
(R):5'- ACAAACAAGATCGTCCCTGAGG -3'
Sequencing Primer
(F):5'- ACAAAGTGCTGTGGTAGGTTCTTC -3'
(R):5'- GAGGACTTGACCGCTTTTTC -3'
|
| Posted On |
2016-03-04 |
Incidental Mutation