Incidental Mutation 'R6753:Mfsd2b'
ID |
530915 |
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 |
044870-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6753 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4912440-4924359 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4917358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 179
(F179I)
|
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 |
possibly damaging
Transcript: ENSMUST00000045921
AA Change: F282I
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045315 Gene: ENSMUSG00000037336 AA Change: F282I
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: F282I
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000082945 Gene: ENSMUSG00000037336 AA Change: F282I
Domain | Start | End | E-Value | Type |
Pfam:MFS_2
|
32 |
346 |
2.2e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125344
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137337
AA Change: F179I
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117057 Gene: ENSMUSG00000037336 AA Change: F179I
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
99% (68/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
G |
A |
11: 119,900,977 (GRCm39) |
P1083S |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,908,641 (GRCm39) |
N101I |
possibly damaging |
Het |
Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
Agk |
T |
A |
6: 40,345,504 (GRCm39) |
|
probably null |
Het |
Akap10 |
A |
T |
11: 61,777,603 (GRCm39) |
M586K |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Armc1 |
A |
G |
3: 19,198,562 (GRCm39) |
F133L |
possibly damaging |
Het |
Bank1 |
T |
C |
3: 135,799,069 (GRCm39) |
E424G |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,306,834 (GRCm39) |
E1363G |
probably damaging |
Het |
Cacna1d |
C |
A |
14: 29,764,743 (GRCm39) |
A2076S |
probably damaging |
Het |
Ccdc73 |
T |
A |
2: 104,821,869 (GRCm39) |
L606* |
probably null |
Het |
Ccdc8 |
C |
T |
7: 16,730,562 (GRCm39) |
Q684* |
probably null |
Het |
Ces1b |
T |
A |
8: 93,793,648 (GRCm39) |
K314* |
probably null |
Het |
Ces1e |
T |
A |
8: 93,941,756 (GRCm39) |
N238I |
probably damaging |
Het |
Chd4 |
A |
G |
6: 125,091,263 (GRCm39) |
N1238S |
probably benign |
Het |
Cmtr2 |
T |
A |
8: 110,949,611 (GRCm39) |
D640E |
probably damaging |
Het |
Col7a1 |
C |
T |
9: 108,787,196 (GRCm39) |
T559I |
unknown |
Het |
Comt |
T |
C |
16: 18,226,771 (GRCm39) |
K205R |
probably benign |
Het |
Dbp |
A |
T |
7: 45,357,828 (GRCm39) |
E232V |
probably damaging |
Het |
Dcbld2 |
A |
G |
16: 58,276,493 (GRCm39) |
T470A |
possibly damaging |
Het |
Eml6 |
T |
A |
11: 29,704,987 (GRCm39) |
D1519V |
probably damaging |
Het |
Evpl |
T |
A |
11: 116,128,732 (GRCm39) |
H31L |
possibly damaging |
Het |
Exoc1 |
T |
A |
5: 76,711,186 (GRCm39) |
I86N |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Fgfr3 |
T |
C |
5: 33,889,503 (GRCm39) |
S301P |
probably benign |
Het |
Gas2l1 |
C |
T |
11: 5,014,254 (GRCm39) |
V69I |
probably damaging |
Het |
Gm2042 |
T |
A |
12: 87,924,854 (GRCm39) |
I107K |
probably damaging |
Het |
Gucy1b1 |
T |
C |
3: 81,947,054 (GRCm39) |
D385G |
probably null |
Het |
Ints1 |
T |
A |
5: 139,750,930 (GRCm39) |
E824D |
probably damaging |
Het |
Itfg1 |
T |
C |
8: 86,561,707 (GRCm39) |
D142G |
probably benign |
Het |
Jaml |
A |
G |
9: 45,018,677 (GRCm39) |
N359D |
probably benign |
Het |
Kcnh7 |
T |
A |
2: 62,680,721 (GRCm39) |
I289L |
probably benign |
Het |
Klf12 |
G |
A |
14: 100,347,212 (GRCm39) |
Q40* |
probably null |
Het |
Mcm4 |
A |
C |
16: 15,447,226 (GRCm39) |
N579K |
possibly damaging |
Het |
Mmp11 |
C |
T |
10: 75,764,208 (GRCm39) |
V86M |
probably damaging |
Het |
Mogs |
T |
C |
6: 83,092,863 (GRCm39) |
V101A |
probably damaging |
Het |
Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
Or5ak4 |
C |
A |
2: 85,162,142 (GRCm39) |
M33I |
probably benign |
Het |
Otog |
A |
C |
7: 45,898,495 (GRCm39) |
E204D |
probably benign |
Het |
Parp8 |
G |
A |
13: 117,031,651 (GRCm39) |
H354Y |
possibly damaging |
Het |
Pcnx1 |
C |
A |
12: 82,011,254 (GRCm39) |
D1238E |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,351,081 (GRCm39) |
T642I |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,453,059 (GRCm39) |
E3995K |
probably benign |
Het |
Prdm9 |
A |
T |
17: 15,765,218 (GRCm39) |
Y521N |
probably benign |
Het |
Prex2 |
A |
G |
1: 11,254,680 (GRCm39) |
S1105G |
probably damaging |
Het |
Prss35 |
T |
A |
9: 86,638,153 (GRCm39) |
F308I |
probably damaging |
Het |
Rab22a |
C |
T |
2: 173,542,848 (GRCm39) |
A167V |
probably benign |
Het |
Rims2 |
A |
G |
15: 39,430,369 (GRCm39) |
Q871R |
possibly damaging |
Het |
Rorb |
A |
T |
19: 18,934,611 (GRCm39) |
M253K |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,482,955 (GRCm39) |
D4269G |
probably damaging |
Het |
Snx11 |
T |
C |
11: 96,660,732 (GRCm39) |
|
probably benign |
Het |
Son |
A |
G |
16: 91,454,076 (GRCm39) |
Q941R |
probably damaging |
Het |
Sptbn2 |
G |
T |
19: 4,797,813 (GRCm39) |
R1880L |
probably benign |
Het |
Sun1 |
G |
A |
5: 139,201,014 (GRCm39) |
|
probably null |
Het |
Tprn |
A |
G |
2: 25,154,050 (GRCm39) |
R451G |
probably benign |
Het |
Trbv30 |
T |
A |
6: 41,258,311 (GRCm39) |
M1K |
probably null |
Het |
Ttn |
C |
A |
2: 76,568,565 (GRCm39) |
G25697W |
probably damaging |
Het |
Ubb |
T |
G |
11: 62,442,353 (GRCm39) |
|
probably null |
Het |
Unc13b |
C |
T |
4: 43,239,331 (GRCm39) |
R1038C |
probably damaging |
Het |
Usp7 |
T |
C |
16: 8,514,775 (GRCm39) |
M687V |
probably benign |
Het |
Zfp160 |
G |
A |
17: 21,240,996 (GRCm39) |
M21I |
probably benign |
Het |
Zfp868 |
T |
C |
8: 70,064,747 (GRCm39) |
N196S |
probably benign |
Het |
Zup1 |
A |
T |
10: 33,804,025 (GRCm39) |
I483N |
probably 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 |
|
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 |
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'- CTCAGTCACACGAGCTTCAC -3'
(R):5'- AAGTCTGCTGTGCCTAGGAG -3'
Sequencing Primer
(F):5'- GGCACTATGATGTACGCTTGTAATCC -3'
(R):5'- CTGCTGTGCCTAGGAGTGAAG -3'
|
Posted On |
2018-08-01 |