Incidental Mutation 'R1718:Mfsd2b'
ID |
191221 |
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 |
039751-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1718 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4912440-4924359 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4919037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 73
(T73I)
|
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: T176I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045315 Gene: ENSMUSG00000037336 AA Change: T176I
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: T176I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082945 Gene: ENSMUSG00000037336 AA Change: T176I
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: T73I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117057 Gene: ENSMUSG00000037336 AA Change: T73I
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: ENSMUST00000153676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150764
|
Meta Mutation Damage Score |
0.3259 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
100% (69/69) |
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 |
2210408I21Rik |
G |
T |
13: 77,393,489 (GRCm39) |
|
probably benign |
Het |
Acot3 |
T |
G |
12: 84,100,717 (GRCm39) |
|
probably null |
Het |
Acox1 |
A |
T |
11: 116,065,508 (GRCm39) |
C523* |
probably null |
Het |
Adamts19 |
G |
A |
18: 59,105,897 (GRCm39) |
C764Y |
probably damaging |
Het |
Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
Apob |
A |
G |
12: 8,066,087 (GRCm39) |
K4319R |
probably benign |
Het |
AU016765 |
A |
C |
17: 64,862,433 (GRCm39) |
|
noncoding transcript |
Het |
Bpifb1 |
T |
A |
2: 154,055,903 (GRCm39) |
|
probably null |
Het |
Btn2a2 |
A |
G |
13: 23,666,106 (GRCm39) |
V242A |
probably benign |
Het |
Camta1 |
A |
G |
4: 151,168,481 (GRCm39) |
S1281P |
probably benign |
Het |
Ccdc116 |
T |
C |
16: 16,959,772 (GRCm39) |
K306E |
probably benign |
Het |
Cemip |
A |
G |
7: 83,584,866 (GRCm39) |
V1350A |
probably benign |
Het |
Clip2 |
A |
T |
5: 134,531,783 (GRCm39) |
L674* |
probably null |
Het |
Cyp2d12 |
T |
A |
15: 82,442,251 (GRCm39) |
D244E |
probably benign |
Het |
Cyp4x1 |
A |
G |
4: 114,968,867 (GRCm39) |
V379A |
possibly damaging |
Het |
Dnah9 |
T |
A |
11: 66,058,905 (GRCm39) |
H130L |
possibly damaging |
Het |
Enpp7 |
A |
G |
11: 118,881,809 (GRCm39) |
Y318C |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,702,748 (GRCm39) |
|
probably null |
Het |
Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
Gm28042 |
T |
A |
2: 119,866,872 (GRCm39) |
S172T |
possibly damaging |
Het |
Gm7808 |
T |
A |
9: 19,839,299 (GRCm39) |
|
probably benign |
Het |
Gpr61 |
C |
T |
3: 108,057,696 (GRCm39) |
V322M |
possibly damaging |
Het |
H2-T5 |
A |
G |
17: 36,472,676 (GRCm39) |
|
probably benign |
Het |
Hapln3 |
A |
G |
7: 78,773,198 (GRCm39) |
V15A |
unknown |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Klk1b4 |
A |
G |
7: 43,859,096 (GRCm39) |
Y38C |
probably damaging |
Het |
Lrrfip1 |
A |
G |
1: 91,043,277 (GRCm39) |
K561E |
probably damaging |
Het |
Map3k1 |
A |
G |
13: 111,891,953 (GRCm39) |
C1101R |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,896,229 (GRCm39) |
|
probably benign |
Het |
Mfsd4b5 |
C |
T |
10: 39,851,199 (GRCm39) |
V19I |
probably benign |
Het |
Mgme1 |
T |
A |
2: 144,114,238 (GRCm39) |
D113E |
probably benign |
Het |
Mki67 |
A |
G |
7: 135,297,223 (GRCm39) |
S2604P |
probably damaging |
Het |
Mob3c |
A |
G |
4: 115,688,841 (GRCm39) |
I125V |
probably benign |
Het |
Mrps9 |
G |
A |
1: 42,942,559 (GRCm39) |
R339H |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,840,875 (GRCm39) |
D269G |
probably damaging |
Het |
Nedd9 |
T |
C |
13: 41,492,402 (GRCm39) |
N30S |
probably damaging |
Het |
Notch4 |
G |
A |
17: 34,795,737 (GRCm39) |
|
probably benign |
Het |
Or5ak25 |
T |
C |
2: 85,269,149 (GRCm39) |
M118V |
probably benign |
Het |
Or5t15 |
A |
T |
2: 86,681,531 (GRCm39) |
N170K |
probably benign |
Het |
Or8b9 |
G |
A |
9: 37,766,749 (GRCm39) |
V212I |
probably benign |
Het |
Or8c10 |
A |
G |
9: 38,278,890 (GRCm39) |
D6G |
probably benign |
Het |
Papss1 |
C |
A |
3: 131,324,946 (GRCm39) |
R447S |
probably damaging |
Het |
Pla2g4a |
C |
T |
1: 149,747,274 (GRCm39) |
|
probably benign |
Het |
Rab11fip2 |
A |
G |
19: 59,924,081 (GRCm39) |
F266L |
probably damaging |
Het |
Ralgapb |
T |
A |
2: 158,285,200 (GRCm39) |
Y554* |
probably null |
Het |
Rem2 |
T |
C |
14: 54,716,607 (GRCm39) |
V240A |
probably damaging |
Het |
Retsat |
T |
C |
6: 72,579,654 (GRCm39) |
V143A |
probably benign |
Het |
Rnf141 |
G |
T |
7: 110,420,480 (GRCm39) |
Q175K |
probably damaging |
Het |
Rtcb |
C |
A |
10: 85,777,881 (GRCm39) |
G431V |
probably damaging |
Het |
Slc7a6os |
A |
G |
8: 106,930,971 (GRCm39) |
W222R |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,304,867 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,755,828 (GRCm39) |
Y218N |
possibly damaging |
Het |
Sp110 |
G |
A |
1: 85,522,106 (GRCm39) |
H66Y |
probably benign |
Het |
Speg |
G |
A |
1: 75,394,507 (GRCm39) |
E1739K |
probably benign |
Het |
Speg |
A |
G |
1: 75,398,388 (GRCm39) |
Q1945R |
possibly damaging |
Het |
Sprtn |
T |
C |
8: 125,625,096 (GRCm39) |
V67A |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tnks1bp1 |
G |
T |
2: 84,902,082 (GRCm39) |
E997D |
probably benign |
Het |
Tti1 |
A |
T |
2: 157,850,144 (GRCm39) |
V365E |
probably benign |
Het |
Tulp4 |
A |
G |
17: 6,272,715 (GRCm39) |
I590V |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,950,121 (GRCm39) |
D847G |
probably benign |
Het |
Zfp184 |
A |
G |
13: 22,143,442 (GRCm39) |
T383A |
possibly damaging |
Het |
Zik1 |
T |
A |
7: 10,226,268 (GRCm39) |
E33V |
probably damaging |
Het |
Zik1 |
C |
A |
7: 10,226,269 (GRCm39) |
E33* |
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 |
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 |
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'- GTCAGCATCCCCTCTCAAAAGGAAG -3'
(R):5'- AAGCCTGTCGTTACGTCTGCTTATC -3'
Sequencing Primer
(F):5'- TCCCCTCTCAAAAGGAAGAAAAG -3'
(R):5'- TGGGAGAAGCTGTCCTAACC -3'
|
Posted On |
2014-05-14 |