Incidental Mutation 'R9055:Mfsd8'
ID 688602
Institutional Source Beutler Lab
Gene Symbol Mfsd8
Ensembl Gene ENSMUSG00000025759
Gene Name major facilitator superfamily domain containing 8
Synonyms Cln7, 2810423E13Rik
MMRRC Submission 068881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9055 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 40772538-40801321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40786493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 219 (A219V)
Ref Sequence ENSEMBL: ENSMUSP00000026859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026859] [ENSMUST00000204054] [ENSMUST00000204907]
AlphaFold Q8BH31
Predicted Effect probably benign
Transcript: ENSMUST00000026859
AA Change: A219V

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759
AA Change: A219V

DomainStartEndE-ValueType
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
AA Change: A173V

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144842
Gene: ENSMUSG00000025759
AA Change: A173V

DomainStartEndE-ValueType
Pfam:MFS_1 1 187 2e-21 PFAM
Pfam:Sugar_tr 7 186 3.8e-12 PFAM
Meta Mutation Damage Score 0.3247 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (68/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T A 19: 57,030,398 (GRCm39) T753S probably benign Het
Acy3 A G 19: 4,038,178 (GRCm39) E157G probably benign Het
Adamts20 A G 15: 94,181,867 (GRCm39) Y1609H probably damaging Het
Ahnak2 C T 12: 112,741,019 (GRCm39) A1018T possibly damaging Het
Ahsg T A 16: 22,711,069 (GRCm39) W69R possibly damaging Het
Alox12 T G 11: 70,143,903 (GRCm39) D159A probably damaging Het
Alox12b C G 11: 69,054,884 (GRCm39) P296A possibly damaging Het
Ankrd17 T C 5: 90,380,168 (GRCm39) I2507V probably benign Het
Apeh T C 9: 107,963,045 (GRCm39) M670V possibly damaging Het
Aqp12 C T 1: 92,934,627 (GRCm39) A168V probably benign Het
Ceacam1 A T 7: 25,171,299 (GRCm39) D388E probably damaging Het
Clp1 A T 2: 84,554,266 (GRCm39) I301N probably damaging Het
Cntn3 A G 6: 102,244,398 (GRCm39) F384L probably benign Het
Dnpep A T 1: 75,291,805 (GRCm39) M238K possibly damaging Het
Dync2h1 A T 9: 6,996,641 (GRCm39) probably benign Het
Edc3 T A 9: 57,623,360 (GRCm39) N98K probably benign Het
Egr3 T A 14: 70,316,349 (GRCm39) N15K probably damaging Het
Fbxo25 T A 8: 13,965,023 (GRCm39) C25S possibly damaging Het
Fgd4 T A 16: 16,240,494 (GRCm39) D745V possibly damaging Het
Flnb T A 14: 7,908,553 (GRCm38) D1310E probably benign Het
Ggnbp2 A G 11: 84,732,448 (GRCm39) F215S probably damaging Het
Gm1979 C T 5: 26,207,032 (GRCm39) R107Q probably benign Het
Gm4847 T A 1: 166,467,677 (GRCm39) H173L probably damaging Het
Gmeb1 A T 4: 131,964,425 (GRCm39) L146H probably damaging Het
Gpr88 A G 3: 116,046,300 (GRCm39) S4P unknown Het
Gucy1a1 A G 3: 82,016,433 (GRCm39) L185P possibly damaging Het
Hsd3b6 G T 3: 98,713,984 (GRCm39) T105N probably damaging Het
Iqca1 T C 1: 89,998,335 (GRCm39) Y546C probably benign Het
Irf1 T A 11: 53,667,196 (GRCm39) I305N probably benign Het
Itgb3 G A 11: 104,556,451 (GRCm39) W764* probably null Het
Klra8 G T 6: 130,096,017 (GRCm39) R192S probably benign Het
Krt79 T A 15: 101,839,922 (GRCm39) I358F probably damaging Het
Mettl4 T C 17: 95,047,843 (GRCm39) D266G possibly damaging Het
Mgam G A 6: 40,691,663 (GRCm39) probably benign Het
Nek9 A T 12: 85,348,616 (GRCm39) C973S probably damaging Het
Or2k2 G T 4: 58,785,374 (GRCm39) A116E possibly damaging Het
Or4f15 A T 2: 111,814,049 (GRCm39) Y123* probably null Het
Or8c13 T C 9: 38,091,780 (GRCm39) Y113C probably damaging Het
Ostc T A 3: 130,503,020 (GRCm39) E2V probably damaging Het
Ostc C A 3: 130,503,021 (GRCm39) E2* probably null Het
Pcdhb8 T A 18: 37,490,585 (GRCm39) C754* probably null Het
Polr1a A G 6: 71,892,053 (GRCm39) T111A possibly damaging Het
Prep C T 10: 44,991,291 (GRCm39) T319M probably benign Het
Reg3b A C 6: 78,349,886 (GRCm39) D142A possibly damaging Het
Retsat A G 6: 72,583,936 (GRCm39) D537G probably benign Het
Rnf2 G A 1: 151,352,030 (GRCm39) L109F probably damaging Het
Rskr A G 11: 78,184,373 (GRCm39) D240G probably damaging Het
Runx3 G T 4: 134,902,656 (GRCm39) R262L probably damaging Het
Rwdd3 G T 3: 120,952,871 (GRCm39) T112K probably benign Het
Scfd2 T C 5: 74,691,931 (GRCm39) H117R possibly damaging Het
Scn10a C T 9: 119,451,958 (GRCm39) V1321M probably damaging Het
Sec31a T C 5: 100,534,040 (GRCm39) E119G possibly damaging Het
Skint6 C A 4: 113,095,347 (GRCm39) G104V probably damaging Het
Slc18a1 T A 8: 69,520,823 (GRCm39) I199F possibly damaging Het
St18 C T 1: 6,873,206 (GRCm39) R314* probably null Het
Sucla2 T G 14: 73,819,068 (GRCm39) probably benign Het
Sulf1 A T 1: 12,878,187 (GRCm39) H225L probably damaging Het
Tas2r140 A G 6: 133,032,380 (GRCm39) V126A possibly damaging Het
Tcp10b T C 17: 13,281,828 (GRCm39) I66T probably damaging Het
Tmem45a2 T C 16: 56,861,115 (GRCm39) I237M probably benign Het
Traf3ip1 C T 1: 91,428,733 (GRCm39) R167* probably null Het
Trav17 T G 14: 54,044,320 (GRCm39) V30G probably damaging Het
Vmn1r54 A G 6: 90,246,100 (GRCm39) N5D probably benign Het
Vmn2r81 A G 10: 79,110,441 (GRCm39) H518R probably benign Het
Washc3 A G 10: 88,051,916 (GRCm39) T102A probably benign Het
Xaf1 A G 11: 72,194,266 (GRCm39) H49R probably damaging Het
Zfp1001 G A 2: 150,165,753 (GRCm39) probably benign Het
Zfp276 T C 8: 123,985,109 (GRCm39) F356L probably damaging Het
Zfp398 G T 6: 47,843,319 (GRCm39) R457L possibly damaging Het
Zfp512 G T 5: 31,637,533 (GRCm39) E541* probably null Het
Other mutations in Mfsd8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGAACCCATCTATAGACAGCAG -3'
(R):5'- AGCAGTCTGTGGTAAGCATC -3'

Sequencing Primer
(F):5'- ACCCAGGTTTGGTTCTGAAAC -3'
(R):5'- CAGTCTGTGGTAAGCATCTTTTATAG -3'
Posted On 2021-11-19