Incidental Mutation 'R5126:Mfsd2b'
| ID |
393573 |
| 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 |
042714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5126 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
4912440-4924359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4916183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 269
(I269T)
|
| 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 benign
Transcript: ENSMUST00000045921
AA Change: I372T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045315
Gene: ENSMUSG00000037336
AA Change: I372T
| 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
AA Change: I269T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117057
Gene: ENSMUSG00000037336
AA Change: I269T
| 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
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
G |
A |
2: 26,886,927 (GRCm39) |
|
probably null |
Het |
| Ahdc1 |
T |
A |
4: 132,790,833 (GRCm39) |
F691L |
probably benign |
Het |
| Ahsa2 |
T |
A |
11: 23,441,036 (GRCm39) |
I202F |
possibly damaging |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep164 |
A |
G |
9: 45,698,722 (GRCm39) |
|
probably null |
Het |
| Cltc |
A |
G |
11: 86,603,495 (GRCm39) |
V781A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,402,724 (GRCm39) |
S3273P |
probably damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,501,820 (GRCm39) |
V337L |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,077,388 (GRCm39) |
V715A |
possibly damaging |
Het |
| Grik1 |
C |
T |
16: 87,744,747 (GRCm39) |
G502S |
probably damaging |
Het |
| Ifi213 |
A |
G |
1: 173,417,581 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ints15 |
G |
T |
5: 143,293,701 (GRCm39) |
P259T |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,479,787 (GRCm39) |
V155A |
possibly damaging |
Het |
| Katnal2 |
T |
C |
18: 77,105,294 (GRCm39) |
E51G |
probably benign |
Het |
| Kcna2 |
T |
A |
3: 107,011,550 (GRCm39) |
F44I |
probably damaging |
Het |
| Kcna6 |
T |
C |
6: 126,715,695 (GRCm39) |
E398G |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,804,823 (GRCm39) |
H190L |
probably damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,194,788 (GRCm39) |
R597G |
possibly damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,294,400 (GRCm39) |
M244L |
probably benign |
Het |
| Ly6c2 |
A |
C |
15: 74,983,492 (GRCm39) |
S9A |
possibly damaging |
Het |
| Mbd4 |
T |
A |
6: 115,825,929 (GRCm39) |
|
probably null |
Het |
| Muc6 |
A |
T |
7: 141,237,564 (GRCm39) |
C218S |
probably damaging |
Het |
| Nlrc5 |
G |
T |
8: 95,201,299 (GRCm39) |
R131L |
possibly damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,072,359 (GRCm39) |
C495S |
possibly damaging |
Het |
| Nsf |
C |
A |
11: 103,773,618 (GRCm39) |
E299* |
probably null |
Het |
| Obscn |
T |
A |
11: 58,967,889 (GRCm39) |
E336D |
probably damaging |
Het |
| Or14j9 |
G |
T |
17: 37,874,719 (GRCm39) |
T161K |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,464,008 (GRCm39) |
N587S |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,340,614 (GRCm39) |
I666T |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,976 (GRCm39) |
D321G |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,370,794 (GRCm39) |
D254N |
probably damaging |
Het |
| Pnma8a |
A |
C |
7: 16,695,242 (GRCm39) |
M366L |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,870,056 (GRCm39) |
C12F |
possibly damaging |
Het |
| Ptprk |
G |
T |
10: 28,451,640 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,040,790 (GRCm39) |
V899A |
probably damaging |
Het |
| Ruvbl1 |
T |
A |
6: 88,462,883 (GRCm39) |
C336S |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,725,247 (GRCm39) |
H400L |
probably damaging |
Het |
| Slc66a1 |
T |
C |
4: 139,029,843 (GRCm39) |
T63A |
probably benign |
Het |
| Slco1a4 |
A |
T |
6: 141,761,308 (GRCm39) |
V435D |
possibly damaging |
Het |
| Snx14 |
A |
T |
9: 88,264,152 (GRCm39) |
Y818N |
probably damaging |
Het |
| Tln2 |
A |
G |
9: 67,165,817 (GRCm39) |
I2098T |
probably damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,287 (GRCm39) |
L91P |
probably damaging |
Het |
| Tmem208 |
T |
A |
8: 106,061,282 (GRCm39) |
F103I |
probably benign |
Het |
| Vmn2r3 |
C |
T |
3: 64,166,740 (GRCm39) |
C797Y |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,187,259 (GRCm39) |
M743L |
probably benign |
Het |
| Wdcp |
C |
A |
12: 4,900,617 (GRCm39) |
R158S |
probably damaging |
Het |
| Zfp773 |
T |
C |
7: 7,139,623 (GRCm39) |
T9A |
unknown |
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 |
|
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'- AACCAGCCAGCAGTATGTC -3'
(R):5'- AACAGGGCTCCCTTGTATCTG -3'
Sequencing Primer
(F):5'- CAGCCAGCAGTATGTCTGTGTTC -3'
(R):5'- TATCTGCTGGGCCGAGCATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation