Incidental Mutation 'R8242:Mfsd8'
ID 637595
Institutional Source Beutler Lab
Gene Symbol Mfsd8
Ensembl Gene ENSMUSG00000025759
Gene Name major facilitator superfamily domain containing 8
Synonyms Cln7, 2810423E13Rik
MMRRC Submission 067647-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8242 (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 40789628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 140 (R140C)
Ref Sequence ENSEMBL: ENSMUSP00000026859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026859] [ENSMUST00000204017] [ENSMUST00000204054] [ENSMUST00000204907]
AlphaFold Q8BH31
Predicted Effect probably damaging
Transcript: ENSMUST00000026859
AA Change: R140C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759
AA Change: R140C

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: ENSMUST00000204017
Predicted Effect probably benign
Transcript: ENSMUST00000204054
Predicted Effect probably benign
Transcript: ENSMUST00000204399
Predicted Effect probably damaging
Transcript: ENSMUST00000204907
AA Change: R94C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144842
Gene: ENSMUSG00000025759
AA Change: R94C

DomainStartEndE-ValueType
Pfam:MFS_1 1 187 2e-21 PFAM
Pfam:Sugar_tr 7 186 3.8e-12 PFAM
Meta Mutation Damage Score 0.8951 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency 98% (42/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,374,118 (GRCm39) Y736H possibly damaging Het
Akr1c12 G A 13: 4,322,269 (GRCm39) R258* probably null Het
Ankfn1 C G 11: 89,417,271 (GRCm39) probably null Het
Arfgef3 T C 10: 18,505,824 (GRCm39) K947E probably benign Het
Barx2 C A 9: 31,824,227 (GRCm39) R54L probably damaging Het
BC030500 T C 8: 59,365,388 (GRCm39) I13T unknown Het
Bcl11a T A 11: 24,113,208 (GRCm39) F184I probably benign Het
Cfap251 T A 5: 123,411,914 (GRCm39) D515E possibly damaging Het
Cfap43 A G 19: 47,885,808 (GRCm39) L269P probably damaging Het
Col8a1 G T 16: 57,452,721 (GRCm39) P94Q possibly damaging Het
Coq5 T C 5: 115,417,806 (GRCm39) V12A probably benign Het
Csmd1 A G 8: 16,760,670 (GRCm39) V155A probably benign Het
Defb22 A C 2: 152,328,007 (GRCm39) C59W probably damaging Het
Dsg3 A G 18: 20,669,980 (GRCm39) T665A possibly damaging Het
Gm10542 A G 18: 44,337,708 (GRCm39) D62G possibly damaging Het
Gm45861 G A 8: 28,038,821 (GRCm39) S987N unknown Het
Gm5591 T A 7: 38,219,746 (GRCm39) T376S probably benign Het
Hps3 C T 3: 20,068,290 (GRCm39) R588H possibly damaging Het
Itpr1 A T 6: 108,363,658 (GRCm39) D760V probably benign Het
Mroh2b A T 15: 4,938,522 (GRCm39) R270S probably benign Het
Mroh4 G T 15: 74,488,157 (GRCm39) H350N possibly damaging Het
Nsd3 G T 8: 26,196,567 (GRCm39) E1183* probably null Het
Or13a19 T A 7: 139,902,696 (GRCm39) L28* probably null Het
Or4p7 A G 2: 88,222,418 (GRCm39) I276V possibly damaging Het
Or51f23b T C 7: 102,402,306 (GRCm39) M277V probably benign Het
Or8k53 A T 2: 86,177,426 (GRCm39) M228K probably damaging Het
Pex5l T A 3: 33,060,184 (GRCm39) T196S probably benign Het
Phlpp2 T C 8: 110,666,834 (GRCm39) V1121A probably benign Het
Rab3gap2 T A 1: 184,954,050 (GRCm39) S41T probably benign Het
Rad51c A T 11: 87,280,712 (GRCm39) N293K probably damaging Het
Rgs3 C A 4: 62,538,022 (GRCm39) Q18K probably benign Het
Ripk2 C T 4: 16,124,430 (GRCm39) G426D probably benign Het
Rpl22l1 T C 3: 28,860,914 (GRCm39) V44A possibly damaging Het
Sntb1 C T 15: 55,655,629 (GRCm39) A196T possibly damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Tdrd6 T C 17: 43,939,821 (GRCm39) E409G probably damaging Het
Timm50 A T 7: 28,007,836 (GRCm39) D105E probably benign Het
Tsga10 A T 1: 37,846,182 (GRCm39) S315T probably benign Het
Ttpa G A 4: 20,028,511 (GRCm39) C256Y probably damaging Het
Vinac1 G T 2: 128,881,313 (GRCm39) C204* probably null Het
Vmn2r13 T C 5: 109,322,872 (GRCm39) Y139C possibly damaging Het
Washc5 A G 15: 59,215,971 (GRCm39) S803P probably damaging Het
Zfp985 A C 4: 147,668,639 (GRCm39) K502N possibly damaging 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
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'- GACTGGTGAACATGCACATAAC -3'
(R):5'- CTGCAGATTGATCAGACAGCTG -3'

Sequencing Primer
(F):5'- CATGCACATAACAGAAGGATCATG -3'
(R):5'- GGTTATTGCTTCATATAGTCTTGGCC -3'
Posted On 2020-07-13