Mutagenetix > Incidental Mutation

Incidental Mutation 'R9477:Mfsd8'

715844

Institutional Source

Beutler Lab

Gene Symbol

Mfsd8

Ensembl Gene

ENSMUSG00000025759

Gene Name

major facilitator superfamily domain containing 8

Synonyms

Cln7, 2810423E13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9477 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40772538-40801321 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 40785057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026859] [ENSMUST00000026859] [ENSMUST00000026859] [ENSMUST00000204054] [ENSMUST00000204907]

AlphaFold

Q8BH31

Predicted Effect

probably null
Transcript: ENSMUST00000026859

SMART Domains

Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759

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 null
Transcript: ENSMUST00000026859

SMART Domains

Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759

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 null
Transcript: ENSMUST00000026859

SMART Domains

Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759

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

probably benign
Transcript: ENSMUST00000204907

SMART Domains

Protein: ENSMUSP00000144842
Gene: ENSMUSG00000025759

Domain	Start	End	E-Value	Type
Pfam:MFS_1	1	187	2e-21	PFAM
Pfam:Sugar_tr	7	186	3.8e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	T	1: 89,765,485 (GRCm39)	M618L	probably benign	Het
Anxa2r2	A	T	13: 120,488,282 (GRCm39)	I89N	probably damaging	Het
App	C	A	16: 84,853,392 (GRCm39)	A229S	unknown	Het
B020011L13Rik	G	T	1: 117,728,903 (GRCm39)	E137*	probably null	Het
BC034090	C	T	1: 155,102,087 (GRCm39)	G59E	probably damaging	Het
C1ra	A	G	6: 124,499,455 (GRCm39)	D547G	probably benign	Het
Cdh2	A	T	18: 16,755,212 (GRCm39)	D774E	probably damaging	Het
Cdon	A	G	9: 35,403,201 (GRCm39)	N1104D	probably damaging	Het
Cecr2	G	A	6: 120,720,743 (GRCm39)		probably null	Het
Ces2b	A	T	8: 105,560,556 (GRCm39)	N124Y	probably damaging	Het
Cfap61	A	G	2: 145,985,032 (GRCm39)	T959A	probably benign	Het
Chaf1a	A	T	17: 56,369,244 (GRCm39)	K492*	probably null	Het
Clec14a	A	G	12: 58,314,620 (GRCm39)	V334A	probably benign	Het
Col6a3	A	G	1: 90,706,621 (GRCm39)	I2771T	unknown	Het
Creb3	T	C	4: 43,566,298 (GRCm39)	L244P	probably damaging	Het
Crispld1	T	C	1: 17,816,956 (GRCm39)	V171A	probably benign	Het
Crmp1	T	C	5: 37,446,182 (GRCm39)	Y613H	probably damaging	Het
Csrnp3	G	A	2: 65,852,819 (GRCm39)	V416I	probably benign	Het
Dhrs1	A	G	14: 55,976,868 (GRCm39)	V272A	probably benign	Het
Dip2b	T	C	15: 99,936,784 (GRCm39)	S32P	probably damaging	Het
Dpp10	G	T	1: 123,304,370 (GRCm39)	T510K	possibly damaging	Het
Dst	A	G	1: 34,205,292 (GRCm39)	Y820C	probably damaging	Het
Efcab3	A	T	11: 104,836,698 (GRCm39)	H3562L	unknown	Het
Fam3c	A	T	6: 22,308,479 (GRCm39)	M238K	probably damaging	Het
Fcgbpl1	T	C	7: 27,852,265 (GRCm39)	F1263L	probably damaging	Het
Fcrl2	A	T	3: 87,159,803 (GRCm39)	C484S	probably damaging	Het
Fsd1	T	C	17: 56,295,720 (GRCm39)	L97P	possibly damaging	Het
Gapdhs	T	C	7: 30,431,682 (GRCm39)	I310V	probably damaging	Het
Gimap4	A	T	6: 48,667,314 (GRCm39)	N23I	probably benign	Het
Gpr21	T	A	2: 37,408,386 (GRCm39)	F311I	probably damaging	Het
Grm1	T	C	10: 10,595,405 (GRCm39)	E741G	probably benign	Het
Gsto2	G	A	19: 47,864,911 (GRCm39)	R148H	probably benign	Het
Gzmd	A	G	14: 56,368,813 (GRCm39)	V27A	probably benign	Het
Hbp1	A	G	12: 31,980,766 (GRCm39)	C446R	probably damaging	Het
Hmcn2	A	T	2: 31,286,031 (GRCm39)		probably null	Het
Ifi205	G	A	1: 173,854,155 (GRCm39)	T166I	probably benign	Het
Il23a	T	A	10: 128,133,922 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jag1	A	T	2: 136,936,409 (GRCm39)	C362S	probably damaging	Het
Jmjd1c	A	T	10: 66,993,734 (GRCm39)	R72*	probably null	Het
Kcna6	A	G	6: 126,716,361 (GRCm39)	I176T	probably damaging	Het
Marchf1	T	C	8: 66,871,542 (GRCm39)	V102A	probably damaging	Het
Mast1	T	C	8: 85,638,779 (GRCm39)	K1517E	probably benign	Het
Mbnl1	A	G	3: 60,520,769 (GRCm39)	D119G	probably damaging	Het
Mtus2	T	G	5: 148,014,740 (GRCm39)	V511G	probably benign	Het
Myot	A	C	18: 44,470,333 (GRCm39)	Q103H	probably benign	Het
Nrip2	G	A	6: 128,377,145 (GRCm39)	D24N	probably benign	Het
Ntm	T	A	9: 29,322,922 (GRCm39)	S33C	probably benign	Het
Nus1	C	T	10: 52,294,001 (GRCm39)	T55M	possibly damaging	Het
Or4c112	G	A	2: 88,853,615 (GRCm39)	T244I	probably benign	Het
Pik3cb	C	T	9: 98,922,973 (GRCm39)		probably null	Het
Pogk	T	C	1: 166,227,404 (GRCm39)	N249S	probably damaging	Het
Pou1f1	C	T	16: 65,320,503 (GRCm39)	T66I	possibly damaging	Het
Ppp1r42	T	G	1: 10,055,854 (GRCm39)	K211N	probably damaging	Het
Ppp2r3d	C	A	9: 124,476,857 (GRCm38)	D2Y		Het
Prdm5	A	T	6: 65,771,342 (GRCm39)	N51I	possibly damaging	Het
Rif1	G	A	2: 52,001,342 (GRCm39)	A1599T	probably benign	Het
Sema3c	G	A	5: 17,921,981 (GRCm39)	A520T		Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Spice1	T	A	16: 44,197,183 (GRCm39)	N489K	possibly damaging	Het
Sptbn4	A	G	7: 27,132,624 (GRCm39)	M116T	possibly damaging	Het
Supt5	T	A	7: 28,025,500 (GRCm39)	N249Y	probably damaging	Het
Tex2	A	G	11: 106,410,706 (GRCm39)		probably null	Het
Trhde	T	A	10: 114,338,980 (GRCm39)	E610V	probably benign	Het
Trmt12	T	C	15: 58,745,471 (GRCm39)	S290P	possibly damaging	Het
Trpm2	C	T	10: 77,747,224 (GRCm39)	V1425M	probably benign	Het
Uaca	T	C	9: 60,778,108 (GRCm39)	S832P	probably benign	Het
Vcan	T	A	13: 89,841,128 (GRCm39)	D1472V	probably damaging	Het
Virma	A	G	4: 11,528,753 (GRCm39)	E1330G	probably damaging	Het
Vmn1r125	T	G	7: 21,006,261 (GRCm39)	V53G	possibly damaging	Het
Vmn2r27	A	T	6: 124,168,910 (GRCm39)	I740N	probably damaging	Het
Vmn2r70	C	T	7: 85,218,244 (GRCm39)	C18Y	possibly damaging	Het
Zfp35	A	G	18: 24,136,188 (GRCm39)	I177M	possibly damaging	Het
Zfp532	T	C	18: 65,777,428 (GRCm39)	I895T	probably benign	Het
Zfp58	C	A	13: 67,640,158 (GRCm39)	C111F	probably damaging	Het

Other mutations in Mfsd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1300:Mfsd8	UTSW	3	40,778,333 (GRCm39)	missense	probably benign	0.32
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
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'- CAAGGGTTTTGAGACACCCTC -3'
(R):5'- CCCTATTTCTCAGAAGCCAATAAG -3'

Sequencing Primer
(F):5'- CACAAGTGATCTTTAGCAATGGC -3'
(R):5'- GGGTGCTGATAAAGCAAAC -3'

Posted On

2022-06-15