Incidental Mutation 'R4595:Mfsd2b'
| ID |
344336 |
| 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 |
041811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4912440-4924359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4915807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 299
(T299A)
|
| 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: T402A
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045315
Gene: ENSMUSG00000037336
AA Change: T402A
| 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 |
possibly damaging
Transcript: ENSMUST00000137337
AA Change: T299A
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117057
Gene: ENSMUSG00000037336
AA Change: T299A
| 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 |
0.2543 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (62/66) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4921536K21Rik |
A |
G |
11: 3,840,052 (GRCm39) |
I115T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,251,123 (GRCm39) |
N120K |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,167,139 (GRCm39) |
C118S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,422,819 (GRCm39) |
T1493A |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,208,268 (GRCm39) |
Y480H |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,417,896 (GRCm39) |
I86N |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,945,023 (GRCm39) |
E1477G |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,202,986 (GRCm39) |
N368S |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,794,710 (GRCm39) |
F152L |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,232,320 (GRCm39) |
D881V |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,678 (GRCm39) |
V212A |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,902,352 (GRCm39) |
K196N |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,749,449 (GRCm39) |
D814G |
probably damaging |
Het |
| Dcaf13 |
G |
A |
15: 38,982,288 (GRCm39) |
G85R |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 66,058,978 (GRCm39) |
S106P |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,983,085 (GRCm39) |
D739G |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,316,089 (GRCm39) |
M283K |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,207,159 (GRCm39) |
T208A |
probably benign |
Het |
| Glul |
G |
A |
1: 153,778,796 (GRCm39) |
G35D |
possibly damaging |
Het |
| Gm14412 |
T |
C |
2: 177,007,005 (GRCm39) |
K297E |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,442,318 (GRCm39) |
R120W |
probably damaging |
Het |
| Hipk3 |
T |
A |
2: 104,271,622 (GRCm39) |
T437S |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lipn |
T |
G |
19: 34,058,750 (GRCm39) |
Y321D |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,152,810 (GRCm39) |
V484A |
probably benign |
Het |
| Madd |
T |
C |
2: 90,998,009 (GRCm39) |
D673G |
possibly damaging |
Het |
| Marveld1 |
T |
A |
19: 42,136,203 (GRCm39) |
L39Q |
probably damaging |
Het |
| Micu3 |
T |
C |
8: 40,812,438 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,667 (GRCm39) |
V234A |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
| Or4a15 |
C |
T |
2: 89,193,669 (GRCm39) |
V35M |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,997 (GRCm39) |
D268G |
possibly damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,568 (GRCm39) |
D232E |
probably damaging |
Het |
| Pebp1 |
G |
T |
5: 117,421,475 (GRCm39) |
D156E |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,937,459 (GRCm39) |
Y745H |
possibly damaging |
Het |
| Pld2 |
T |
C |
11: 70,432,846 (GRCm39) |
L170P |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,644,603 (GRCm39) |
M394K |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 87,271,754 (GRCm39) |
Y57H |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,731 (GRCm39) |
I979V |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 76,910,689 (GRCm39) |
I447V |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,663,663 (GRCm39) |
K607R |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,013,845 (GRCm39) |
Q3012L |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,441 (GRCm39) |
F9I |
possibly damaging |
Het |
| Tex35 |
T |
A |
1: 156,926,909 (GRCm39) |
Y195F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,913,982 (GRCm39) |
T1277A |
probably damaging |
Het |
| Tnfsf15 |
G |
T |
4: 63,648,180 (GRCm39) |
Y153* |
probably null |
Het |
| Trim5 |
C |
A |
7: 103,914,639 (GRCm39) |
V477F |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,148,874 (GRCm39) |
I245T |
probably damaging |
Het |
| Zbtb16 |
C |
T |
9: 48,743,380 (GRCm39) |
E311K |
possibly damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,849,000 (GRCm39) |
D165G |
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 |
|
|
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'- TGATGGAGTCCCTCACACTC -3'
(R):5'- ACATACTGCTGGCTGGTTG -3'
Sequencing Primer
(F):5'- ATCCACTCCAGGCTCATGG -3'
(R):5'- CTGGCTGGTTGTGGGCC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation