Incidental Mutation 'R3956:Mfsd2b'
| ID |
310715 |
| 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 |
040833-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3956 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4912440-4924359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4916848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 194
(F194Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045921]
[ENSMUST00000085790]
[ENSMUST00000137337]
[ENSMUST00000147241]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045921
AA Change: F297Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045315
Gene: ENSMUSG00000037336
AA Change: F297Y
| 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 damaging
Transcript: ENSMUST00000085790
AA Change: F297Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082945
Gene: ENSMUSG00000037336
AA Change: F297Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
32 |
346 |
2.2e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125344
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137337
AA Change: F194Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117057
Gene: ENSMUSG00000037336
AA Change: F194Y
| 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 benign
Transcript: ENSMUST00000147241
|
| SMART Domains |
Protein: ENSMUSP00000114977
Gene: ENSMUSG00000037336
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
33 |
110 |
3.1e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153676
|
| Meta Mutation Damage Score |
0.3751 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (56/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
| Abca16 |
A |
G |
7: 120,126,975 (GRCm39) |
N1221S |
probably damaging |
Het |
| Acad11 |
A |
G |
9: 103,963,351 (GRCm39) |
|
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,987,495 (GRCm39) |
L693Q |
probably damaging |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| B3gat1 |
A |
G |
9: 26,668,324 (GRCm39) |
T305A |
possibly damaging |
Het |
| BC051076 |
A |
G |
5: 88,112,110 (GRCm39) |
|
noncoding transcript |
Het |
| Ccni |
A |
G |
5: 93,331,263 (GRCm39) |
L236S |
probably damaging |
Het |
| Ccnq |
C |
A |
11: 78,641,849 (GRCm39) |
E214* |
probably null |
Het |
| Cdc45 |
A |
G |
16: 18,624,180 (GRCm39) |
V119A |
probably benign |
Het |
| Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
| Creld1 |
A |
G |
6: 113,469,190 (GRCm39) |
D340G |
possibly damaging |
Het |
| Cyrib |
T |
C |
15: 63,813,823 (GRCm39) |
Y158C |
probably damaging |
Het |
| Dipk1b |
C |
T |
2: 26,525,579 (GRCm39) |
P171L |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,374,847 (GRCm39) |
I1417L |
probably benign |
Het |
| Efhc1 |
A |
C |
1: 21,048,890 (GRCm39) |
K434N |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,241,358 (GRCm39) |
V297A |
possibly damaging |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Gfod1 |
A |
T |
13: 43,354,538 (GRCm39) |
C146S |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,732,300 (GRCm39) |
P1554T |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,765,931 (GRCm39) |
I88F |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,701,023 (GRCm39) |
T121A |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,441,138 (GRCm39) |
V504E |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,091,975 (GRCm39) |
V5030M |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Or5ac17 |
G |
A |
16: 59,036,428 (GRCm39) |
Q183* |
probably null |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5al5 |
C |
T |
2: 85,961,363 (GRCm39) |
V215I |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,256,801 (GRCm39) |
S502G |
probably benign |
Het |
| Prb1c |
G |
T |
6: 132,338,814 (GRCm39) |
Q135K |
unknown |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,277,884 (GRCm39) |
V426I |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
| Riok3 |
T |
A |
18: 12,276,031 (GRCm39) |
Y242* |
probably null |
Het |
| Robo2 |
T |
G |
16: 73,758,755 (GRCm39) |
Y672S |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,835,991 (GRCm39) |
H343R |
probably damaging |
Het |
| Sar1a |
A |
T |
10: 61,522,172 (GRCm39) |
N88I |
possibly damaging |
Het |
| Sgcz |
A |
G |
8: 37,993,346 (GRCm39) |
|
probably benign |
Het |
| Spmip9 |
A |
G |
6: 70,890,469 (GRCm39) |
Y108H |
possibly damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tlcd5 |
C |
A |
9: 43,022,808 (GRCm39) |
C182F |
probably damaging |
Het |
| Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
| Top6bl |
T |
A |
19: 4,742,525 (GRCm39) |
T214S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,221,837 (GRCm39) |
T1280A |
probably benign |
Het |
| Xpnpep3 |
A |
G |
15: 81,335,230 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCTGCTTTGAACCAGTAG -3'
(R):5'- GTGCACTAGAAATGGCCCATATC -3'
Sequencing Primer
(F):5'- CCAGTAGCTACTAACTTTGAGCCTAG -3'
(R):5'- AGAAATGGCCCATATCTACTTTGGGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation