Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Mfsd8'

158279

Institutional Source

Beutler Lab

Gene Symbol

Mfsd8

Ensembl Gene

ENSMUSG00000025759

Gene Name

major facilitator superfamily domain containing 8

Synonyms

Cln7, 2810423E13Rik

MMRRC Submission

039366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40772538-40801321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40778333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 310 (D310E)

Ref Sequence

ENSEMBL: ENSMUSP00000026859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026859] [ENSMUST00000204054]

AlphaFold

Q8BH31

Predicted Effect

probably benign
Transcript: ENSMUST00000026859
AA Change: D310E

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759
AA Change: D310E

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	31	235	3.6e-13	PFAM
Pfam:MFS_1	43	387	4.2e-31	PFAM
transmembrane domain	417	439	N/A	INTRINSIC
transmembrane domain	452	474	N/A	INTRINSIC
transmembrane domain	484	503	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204054

Predicted Effect

probably benign
Transcript: ENSMUST00000204399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204454

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit accumulation of autofluorescent material in the brain and peripheral tissues, retinal photoreceptor degeneration, presence of dense lamellar bodies in neurons, and a late-onset reactive gliosis and subtle astrogliosis in the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,283,967 (GRCm39)	I2535T	probably damaging	Het
Adam34l	A	T	8: 44,079,881 (GRCm39)	Y114*	probably null	Het
Ank3	A	G	10: 69,840,495 (GRCm39)	I952V	probably benign	Het
Ankar	A	C	1: 72,682,323 (GRCm39)	V1414G	probably benign	Het
Arl2	A	G	19: 6,191,103 (GRCm39)	M10T	probably benign	Het
Arpp21	A	G	9: 111,972,442 (GRCm39)	I352T	probably damaging	Het
Cacna1e	T	A	1: 154,274,419 (GRCm39)	H2162L	probably benign	Het
Cep170b	A	C	12: 112,703,691 (GRCm39)	M622L	probably benign	Het
Cped1	T	C	6: 22,119,552 (GRCm39)	V337A	probably benign	Het
Cpn2	T	A	16: 30,078,481 (GRCm39)	T407S	probably benign	Het
Cpne4	T	C	9: 104,870,333 (GRCm39)	W263R	probably damaging	Het
Crtc1	A	G	8: 70,840,189 (GRCm39)		probably null	Het
Cspg4b	T	C	13: 113,502,694 (GRCm39)	F133S	probably damaging	Het
Dennd5a	A	T	7: 109,518,614 (GRCm39)	I485N	probably benign	Het
Dnah6	T	C	6: 73,101,692 (GRCm39)	Q1892R	probably benign	Het
Dse	G	A	10: 34,028,411 (GRCm39)	A893V	probably benign	Het
Dsg1a	T	G	18: 20,465,206 (GRCm39)	S466A	probably benign	Het
Dstyk	T	C	1: 132,377,651 (GRCm39)	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,294,464 (GRCm39)	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,821,426 (GRCm39)	G2576C	probably damaging	Het
Eps15l1	A	T	8: 73,145,746 (GRCm39)	D162E	probably damaging	Het
Fstl4	C	A	11: 52,959,454 (GRCm39)	T165N	probably benign	Het
Gm8674	T	C	13: 50,055,758 (GRCm39)		noncoding transcript	Het
Gtsf2	T	A	15: 103,352,780 (GRCm39)	L39F	possibly damaging	Het
Hck	A	C	2: 152,976,067 (GRCm39)	D202A	possibly damaging	Het
Il12b	T	A	11: 44,298,903 (GRCm39)		probably null	Het
Irf4	T	C	13: 30,941,568 (GRCm39)	L307P	probably damaging	Het
Keg1	G	A	19: 12,696,368 (GRCm39)	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,610,452 (GRCm39)	D218G	probably damaging	Het
Map1b	T	C	13: 99,569,029 (GRCm39)	K1231E	unknown	Het
Mapkbp1	T	C	2: 119,844,136 (GRCm39)	Y293H	probably benign	Het
Mmp9	A	T	2: 164,790,876 (GRCm39)	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,370,666 (GRCm39)	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,209,065 (GRCm39)	I110F	probably damaging	Het
Neu1	A	T	17: 35,153,314 (GRCm39)	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,284,209 (GRCm39)	H50R	probably benign	Het
Nlrp3	C	T	11: 59,446,594 (GRCm39)	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,177,859 (GRCm39)	D517A	probably damaging	Het
Or14c43	T	C	7: 86,114,951 (GRCm39)	F111L	probably benign	Het
Or1e32	T	C	11: 73,705,072 (GRCm39)	T279A	probably benign	Het
Or2z2	T	C	11: 58,346,667 (GRCm39)	Y36C	probably damaging	Het
Or52e3	G	A	7: 102,869,324 (GRCm39)	R133Q	probably benign	Het
P3h2	C	A	16: 25,815,986 (GRCm39)	E176*	probably null	Het
Parp10	C	A	15: 76,126,190 (GRCm39)	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,570,450 (GRCm39)	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,159,611 (GRCm39)	T818S	possibly damaging	Het
Phf11	A	T	14: 59,488,563 (GRCm39)	V78D	probably damaging	Het
Phip	A	T	9: 82,758,800 (GRCm39)	L1450Q	probably benign	Het
Pinx1	A	G	14: 64,156,859 (GRCm39)	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,706,014 (GRCm39)	E19G	probably damaging	Het
Pum1	T	C	4: 130,493,272 (GRCm39)	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,908 (GRCm39)	H106L	probably benign	Het
Slc10a6	T	C	5: 103,754,550 (GRCm39)	D327G	probably benign	Het
Syt1	A	T	10: 108,467,682 (GRCm39)	V205D	possibly damaging	Het
Tep1	C	T	14: 51,064,512 (GRCm39)		probably null	Het
Thnsl2	T	A	6: 71,111,175 (GRCm39)	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,524,763 (GRCm39)	H304L	probably damaging	Het
Unc5c	G	A	3: 141,534,304 (GRCm39)	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,002,704 (GRCm39)	E506G	probably benign	Het

Other mutations in Mfsd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4660:Mfsd8	UTSW	3	40,776,372 (GRCm39)	missense	probably benign	0.06
R5670:Mfsd8	UTSW	3	40,776,484 (GRCm39)	missense	probably benign
R6092:Mfsd8	UTSW	3	40,774,031 (GRCm39)	missense	possibly damaging	0.71
R6126:Mfsd8	UTSW	3	40,786,446 (GRCm39)	critical splice donor site	probably null
R6445:Mfsd8	UTSW	3	40,791,553 (GRCm39)	missense	probably damaging	1.00
R7571:Mfsd8	UTSW	3	40,785,097 (GRCm39)	missense	probably damaging	0.96
R8015:Mfsd8	UTSW	3	40,801,270 (GRCm39)	unclassified	probably benign
R8169:Mfsd8	UTSW	3	40,791,550 (GRCm39)	missense	probably benign	0.00
R8242:Mfsd8	UTSW	3	40,789,628 (GRCm39)	missense	probably damaging	1.00
R8243:Mfsd8	UTSW	3	40,789,628 (GRCm39)	missense	probably damaging	1.00
R8285:Mfsd8	UTSW	3	40,789,628 (GRCm39)	missense	probably damaging	1.00
R8335:Mfsd8	UTSW	3	40,789,628 (GRCm39)	missense	probably damaging	1.00
R8337:Mfsd8	UTSW	3	40,789,628 (GRCm39)	missense	probably damaging	1.00
R9055:Mfsd8	UTSW	3	40,786,493 (GRCm39)	missense	probably benign	0.25
R9477:Mfsd8	UTSW	3	40,785,057 (GRCm39)	critical splice donor site	probably null
R9486:Mfsd8	UTSW	3	40,789,627 (GRCm39)	missense	probably damaging	1.00
R9567:Mfsd8	UTSW	3	40,793,933 (GRCm39)	missense	probably benign
Z1177:Mfsd8	UTSW	3	40,801,296 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTGGCAAGGCATTTTGCTTTACC -3'
(R):5'- CCACCTCGCTATGAGTCATTGCTAC -3'

Sequencing Primer
(F):5'- aaaaggcagaggtaggcag -3'
(R):5'- AGTCATTGCTACACTATGGGAG -3'

Posted On

2014-02-18