Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Mfsd2b'

530915

Institutional Source

Beutler Lab

Gene Symbol

Mfsd2b

Ensembl Gene

ENSMUSG00000037336

Gene Name

major facilitator superfamily domain containing 2B

Synonyms

Gm1964

MMRRC Submission

044870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4862440-4874359 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4867358 bp (GRCm38)

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: 120,010,151 (GRCm38)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906 (GRCm38)	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553 (GRCm38)	V67A	possibly damaging	Het
Agk	T	A	6: 40,368,570 (GRCm38)		probably null	Het
Akap10	A	T	11: 61,886,777 (GRCm38)	M586K	probably damaging	Het
Akt3	A	T	1: 177,050,190 (GRCm38)	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398 (GRCm38)	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308 (GRCm38)	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205 (GRCm38)	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786 (GRCm38)	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524 (GRCm38)	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637 (GRCm38)	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020 (GRCm38)	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128 (GRCm38)	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300 (GRCm38)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979 (GRCm38)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128 (GRCm38)	T559I	unknown	Het
Comt	T	C	16: 18,408,021 (GRCm38)	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404 (GRCm38)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130 (GRCm38)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987 (GRCm38)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906 (GRCm38)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339 (GRCm38)	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061 (GRCm38)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159 (GRCm38)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254 (GRCm38)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084 (GRCm38)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 82,039,747 (GRCm38)	D385G	probably null	Het
Ints1	T	A	5: 139,765,175 (GRCm38)	E824D	probably damaging	Het
Itfg1	T	C	8: 85,835,078 (GRCm38)	D142G	probably benign	Het
Jaml	A	G	9: 45,107,379 (GRCm38)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,850,377 (GRCm38)	I289L	probably benign	Het
Klf12	G	A	14: 100,109,776 (GRCm38)	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362 (GRCm38)	N579K	possibly damaging	Het
Mmp11	C	T	10: 75,928,374 (GRCm38)	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882 (GRCm38)	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626 (GRCm38)	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798 (GRCm38)	M33I	probably benign	Het
Otog	A	C	7: 46,249,071 (GRCm38)	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115 (GRCm38)	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480 (GRCm38)	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,376,982 (GRCm38)	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 109,624,449 (GRCm38)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663 (GRCm38)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956 (GRCm38)	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456 (GRCm38)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100 (GRCm38)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,701,055 (GRCm38)	A167V	probably benign	Het
Rims2	A	G	15: 39,566,973 (GRCm38)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247 (GRCm38)	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610 (GRCm38)	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906 (GRCm38)		probably benign	Het
Son	A	G	16: 91,657,188 (GRCm38)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785 (GRCm38)	R1880L	probably benign	Het
Sun1	G	A	5: 139,215,259 (GRCm38)		probably null	Het
Tprn	A	G	2: 25,264,038 (GRCm38)	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377 (GRCm38)	M1K	probably null	Het
Ttn	C	A	2: 76,738,221 (GRCm38)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527 (GRCm38)		probably null	Het
Unc13b	C	T	4: 43,239,331 (GRCm38)	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911 (GRCm38)	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734 (GRCm38)	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096 (GRCm38)	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029 (GRCm38)	I483N	probably damaging	Het

Other mutations in Mfsd2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Mfsd2b	APN	12	4,866,469 (GRCm38)	missense	possibly damaging	0.63
IGL03188:Mfsd2b	APN	12	4,866,538 (GRCm38)	splice site	probably null
IGL03339:Mfsd2b	APN	12	4,874,335 (GRCm38)	start codon destroyed	probably null
R0142:Mfsd2b	UTSW	12	4,866,234 (GRCm38)	missense	probably benign	0.11
R1468:Mfsd2b	UTSW	12	4,870,536 (GRCm38)	nonsense	probably null
R1468:Mfsd2b	UTSW	12	4,870,536 (GRCm38)	nonsense	probably null
R1535:Mfsd2b	UTSW	12	4,870,605 (GRCm38)	missense	probably damaging	1.00
R1718:Mfsd2b	UTSW	12	4,869,037 (GRCm38)	missense	probably damaging	1.00
R1894:Mfsd2b	UTSW	12	4,869,155 (GRCm38)	missense	probably damaging	0.99
R2127:Mfsd2b	UTSW	12	4,867,659 (GRCm38)	missense	probably benign	0.01
R2392:Mfsd2b	UTSW	12	4,865,164 (GRCm38)	missense	possibly damaging	0.73
R3737:Mfsd2b	UTSW	12	4,870,578 (GRCm38)	missense	probably damaging	1.00
R3738:Mfsd2b	UTSW	12	4,870,578 (GRCm38)	missense	probably damaging	1.00
R3739:Mfsd2b	UTSW	12	4,870,578 (GRCm38)	missense	probably damaging	1.00
R3956:Mfsd2b	UTSW	12	4,866,848 (GRCm38)	missense	probably damaging	1.00
R4035:Mfsd2b	UTSW	12	4,870,578 (GRCm38)	missense	probably damaging	1.00
R4244:Mfsd2b	UTSW	12	4,874,356 (GRCm38)	utr 5 prime	probably benign
R4595:Mfsd2b	UTSW	12	4,865,807 (GRCm38)	missense	possibly damaging	0.87
R4667:Mfsd2b	UTSW	12	4,867,636 (GRCm38)	missense	probably benign	0.01
R4723:Mfsd2b	UTSW	12	4,868,992 (GRCm38)	missense	probably benign	0.03
R5126:Mfsd2b	UTSW	12	4,866,183 (GRCm38)	missense	probably benign	0.30
R5145:Mfsd2b	UTSW	12	4,865,908 (GRCm38)	unclassified	probably benign
R5890:Mfsd2b	UTSW	12	4,867,651 (GRCm38)	missense	probably damaging	1.00
R5976:Mfsd2b	UTSW	12	4,866,522 (GRCm38)	missense	probably damaging	1.00
R6912:Mfsd2b	UTSW	12	4,870,611 (GRCm38)	nonsense	probably null
R7182:Mfsd2b	UTSW	12	4,866,157 (GRCm38)	critical splice donor site	probably null
R7472:Mfsd2b	UTSW	12	4,866,481 (GRCm38)	missense	probably damaging	1.00
R8429:Mfsd2b	UTSW	12	4,866,487 (GRCm38)	missense	possibly damaging	0.90
R8559:Mfsd2b	UTSW	12	4,871,471 (GRCm38)	missense	possibly damaging	0.63
R8992:Mfsd2b	UTSW	12	4,871,490 (GRCm38)	missense	probably benign
R9410:Mfsd2b	UTSW	12	4,865,747 (GRCm38)	missense	probably damaging	1.00
R9474:Mfsd2b	UTSW	12	4,866,820 (GRCm38)	missense	possibly damaging	0.91
X0062:Mfsd2b	UTSW	12	4,865,170 (GRCm38)	missense	probably benign	0.01
Z1176:Mfsd2b	UTSW	12	4,866,530 (GRCm38)	critical splice acceptor site	probably null
Z1177:Mfsd2b	UTSW	12	4,865,794 (GRCm38)	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