Mutagenetix > Incidental Mutation

Incidental Mutation 'R1894:Mfsd2b'

211829

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

039914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4912440-4924359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4919155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 63 (E63G)

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: E166G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045315
Gene: ENSMUSG00000037336
AA Change: E166G

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: E166G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082945
Gene: ENSMUSG00000037336
AA Change: E166G

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: E63G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117057
Gene: ENSMUSG00000037336
AA Change: E63G

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: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Ago4	A	G	4: 126,406,393 (GRCm39)	Y306H	probably benign	Het
Cblc	T	C	7: 19,526,502 (GRCm39)	T196A	probably damaging	Het
Cfap52	T	A	11: 67,844,445 (GRCm39)		probably null	Het
Cops3	T	C	11: 59,710,844 (GRCm39)	N375S	probably benign	Het
Crb1	T	C	1: 139,170,931 (GRCm39)	T759A	probably benign	Het
Dnah3	T	C	7: 119,685,557 (GRCm39)	K153E	probably benign	Het
Elovl1	C	T	4: 118,287,945 (GRCm39)	S27F	probably damaging	Het
Erc2	A	G	14: 27,863,185 (GRCm39)	E804G	probably damaging	Het
Fam110b	G	T	4: 5,798,840 (GRCm39)	C86F	probably damaging	Het
Fbn1	T	A	2: 125,236,541 (GRCm39)	R380W	probably damaging	Het
Gatad2a	C	T	8: 70,369,301 (GRCm39)	R221Q	probably damaging	Het
Gcn1	C	T	5: 115,727,174 (GRCm39)	P677L	probably damaging	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Gm9817	T	C	13: 45,232,605 (GRCm39)	V136A	unknown	Het
Gmip	T	A	8: 70,273,622 (GRCm39)	L971H	probably damaging	Het
Gnptab	G	A	10: 88,254,989 (GRCm39)	E192K	possibly damaging	Het
Grm7	G	A	6: 111,335,568 (GRCm39)	V660I	probably benign	Het
Helz2	G	A	2: 180,876,082 (GRCm39)	P1471S	probably damaging	Het
Herc1	G	A	9: 66,386,743 (GRCm39)	G3786S	probably damaging	Het
Isg20	T	C	7: 78,569,647 (GRCm39)	V206A	probably benign	Het
Jund	T	A	8: 71,152,470 (GRCm39)	I255N	probably damaging	Het
Kcnt2	A	T	1: 140,353,079 (GRCm39)	I263F	probably damaging	Het
Kif2c	A	T	4: 117,019,420 (GRCm39)	L561Q	probably benign	Het
Klhl3	T	C	13: 58,157,189 (GRCm39)	D546G	probably damaging	Het
Klk1b4	A	T	7: 43,859,054 (GRCm39)	Q24L	probably benign	Het
Ltbp2	A	T	12: 84,834,735 (GRCm39)	C225S	probably damaging	Het
Mcub	T	C	3: 129,728,312 (GRCm39)	H55R	probably benign	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Med18	G	A	4: 132,187,242 (GRCm39)	R86*	probably null	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Myo15b	G	A	11: 115,777,899 (GRCm39)	G1049S	probably damaging	Het
Nfrkb	T	A	9: 31,326,064 (GRCm39)	V1169E	probably benign	Het
Nr2f2	T	A	7: 70,004,419 (GRCm39)	M411L	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nup214	A	T	2: 31,886,392 (GRCm39)	T585S	possibly damaging	Het
Or5m13	C	T	2: 85,748,599 (GRCm39)	T110I	probably benign	Het
Or6c214	A	T	10: 129,590,943 (GRCm39)	C125*	probably null	Het
Or7e177	T	C	9: 20,211,633 (GRCm39)	S47P	probably benign	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pih1d1	T	A	7: 44,807,165 (GRCm39)	I166N	probably damaging	Het
Prl2c5	T	C	13: 13,366,263 (GRCm39)	F181L	probably benign	Het
Prx	C	T	7: 27,218,535 (GRCm39)	T1012I	possibly damaging	Het
Rassf8	T	A	6: 145,754,199 (GRCm39)	V5E	probably damaging	Het
Rassf9	C	A	10: 102,380,755 (GRCm39)	R44S	possibly damaging	Het
Relch	A	T	1: 105,592,301 (GRCm39)	I157F	probably benign	Het
Sde2	G	A	1: 180,687,573 (GRCm39)	S153N	probably benign	Het
Sec16b	T	A	1: 157,380,545 (GRCm39)	M372K	possibly damaging	Het
Sgcd	A	T	11: 47,085,937 (GRCm39)	I71N	probably damaging	Het
Slco5a1	C	T	1: 12,942,483 (GRCm39)	C721Y	probably damaging	Het
Slx4ip	A	T	2: 136,910,038 (GRCm39)	K344N	probably benign	Het
Sorcs3	A	T	19: 48,782,713 (GRCm39)	Q1076L	probably benign	Het
Spata21	A	T	4: 140,838,692 (GRCm39)	N581I	possibly damaging	Het
Spata31d1d	G	T	13: 59,875,936 (GRCm39)	P533H	probably benign	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Tex14	T	G	11: 87,365,274 (GRCm39)	F61V	probably damaging	Het
Timp3	C	T	10: 86,181,716 (GRCm39)	R196*	probably null	Het
Tll2	A	G	19: 41,077,110 (GRCm39)		probably null	Het
Tppp	A	G	13: 74,169,326 (GRCm39)	D22G	possibly damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Uaca	T	C	9: 60,777,718 (GRCm39)	S702P	possibly damaging	Het
Uggt2	T	C	14: 119,287,130 (GRCm39)	E146G	probably damaging	Het
Vmn1r233	T	C	17: 21,213,994 (GRCm39)	S319G	probably benign	Het
Wdr47	A	T	3: 108,530,692 (GRCm39)	Q395L	possibly damaging	Het
Wrnip1	A	G	13: 32,989,319 (GRCm39)		probably null	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	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
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'- ACTACATCTGGGGAAACAGCAG -3'
(R):5'- CTTTTAGGAACTTGGATGGGACAG -3'

Sequencing Primer
(F):5'- CGTGGGCACTGGACACAATG -3'
(R):5'- TGGGACAGGCTAGCTGCTG -3'

Posted On

2014-06-30