Incidental Mutation 'R6092:Mfsd8'
ID 485970
Institutional Source Beutler Lab
Gene Symbol Mfsd8
Ensembl Gene ENSMUSG00000025759
Gene Name major facilitator superfamily domain containing 8
Synonyms Cln7, 2810423E13Rik
MMRRC Submission 044249-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6092 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 40772538-40801321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40774031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 493 (V493A)
Ref Sequence ENSEMBL: ENSMUSP00000026859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026858] [ENSMUST00000026859] [ENSMUST00000167556] [ENSMUST00000203295] [ENSMUST00000203895] [ENSMUST00000204032] [ENSMUST00000204054]
AlphaFold Q8BH31
Predicted Effect probably benign
Transcript: ENSMUST00000026858
SMART Domains Protein: ENSMUSP00000026858
Gene: ENSMUSG00000025758

DomainStartEndE-ValueType
S_TKc 12 265 3.46e-100 SMART
low complexity region 288 312 N/A INTRINSIC
low complexity region 329 341 N/A INTRINSIC
PDB:4G7N|B 554 774 6e-41 PDB
low complexity region 820 831 N/A INTRINSIC
Pfam:POLO_box 849 910 7e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000026859
AA Change: V493A

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759
AA Change: V493A

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: ENSMUST00000167556
SMART Domains Protein: ENSMUSP00000126945
Gene: ENSMUSG00000025758

DomainStartEndE-ValueType
S_TKc 12 265 3.46e-100 SMART
low complexity region 288 312 N/A INTRINSIC
low complexity region 329 341 N/A INTRINSIC
PDB:4G7N|B 551 771 6e-41 PDB
low complexity region 817 828 N/A INTRINSIC
Pfam:POLO_box 844 908 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203295
SMART Domains Protein: ENSMUSP00000145277
Gene: ENSMUSG00000025758

DomainStartEndE-ValueType
S_TKc 12 265 3.46e-100 SMART
low complexity region 288 312 N/A INTRINSIC
low complexity region 329 341 N/A INTRINSIC
PDB:4G7N|B 554 747 3e-32 PDB
low complexity region 793 804 N/A INTRINSIC
Pfam:POLO_box 822 883 6.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203895
SMART Domains Protein: ENSMUSP00000145455
Gene: ENSMUSG00000025758

DomainStartEndE-ValueType
STYKc 12 143 3.5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204032
SMART Domains Protein: ENSMUSP00000145201
Gene: ENSMUSG00000025758

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
Pfam:POLO_box 81 142 2.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204054
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (61/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,701 (GRCm39) P1297S probably benign Het
4930486L24Rik C T 13: 61,001,461 (GRCm39) V89M probably benign Het
Abhd16a T C 17: 35,317,786 (GRCm39) probably null Het
Abtb1 A C 6: 88,815,433 (GRCm39) C264G probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arid1a C T 4: 133,421,163 (GRCm39) G881R unknown Het
Asb8 A G 15: 98,034,123 (GRCm39) V144A possibly damaging Het
Atm A C 9: 53,435,714 (GRCm39) C199G probably damaging Het
Atxn1 C A 13: 45,720,288 (GRCm39) V536L probably benign Het
Baz1a C T 12: 54,955,868 (GRCm39) V1074M possibly damaging Het
BC034090 T A 1: 155,100,659 (GRCm39) D535V probably damaging Het
Casp8ap2 C A 4: 32,639,380 (GRCm39) H145N probably damaging Het
Ccdc24 T A 4: 117,729,645 (GRCm39) K25* probably null Het
Ccdc91 A G 6: 147,437,114 (GRCm39) N100S possibly damaging Het
Cdh20 A T 1: 110,026,036 (GRCm39) Y424F probably benign Het
Clasp1 T C 1: 118,438,028 (GRCm39) S612P probably damaging Het
Cxcl14 T C 13: 56,443,646 (GRCm39) M55V possibly damaging Het
Dnah11 T C 12: 117,892,191 (GRCm39) T3661A probably benign Het
Dnah14 T A 1: 181,449,398 (GRCm39) D574E probably benign Het
Dnah6 C T 6: 73,091,680 (GRCm39) V2204M possibly damaging Het
Ercc4 A T 16: 12,943,125 (GRCm39) H178L probably benign Het
Far2 T C 6: 148,076,581 (GRCm39) F475L probably benign Het
Ggt7 A G 2: 155,359,959 (GRCm39) probably null Het
Gm4131 T A 14: 62,718,364 (GRCm39) T81S possibly damaging Het
Gprc6a A G 10: 51,491,173 (GRCm39) S788P probably damaging Het
Hmgxb3 C A 18: 61,270,672 (GRCm39) G884V possibly damaging Het
Homer1 T A 13: 93,502,945 (GRCm39) probably benign Het
Iars1 T C 13: 49,861,897 (GRCm39) S483P probably damaging Het
Kansl1l C G 1: 66,812,643 (GRCm39) E457Q probably damaging Het
Krtap4-9 G A 11: 99,676,481 (GRCm39) probably benign Het
Lepr C A 4: 101,649,220 (GRCm39) P874T probably damaging Het
Mad2l2 T A 4: 148,228,067 (GRCm39) F100L probably damaging Het
Mavs A T 2: 131,087,518 (GRCm39) R339* probably null Het
Mettl1 G A 10: 126,877,843 (GRCm39) probably benign Het
Mtmr9 C T 14: 63,779,901 (GRCm39) V63M possibly damaging Het
Mto1 T C 9: 78,368,131 (GRCm39) I425T possibly damaging Het
Or2av9 A T 11: 58,380,900 (GRCm39) M227K probably damaging Het
Or5g29 A G 2: 85,420,950 (GRCm39) Y22C probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pclo C T 5: 14,727,937 (GRCm39) probably benign Het
Phf2 T C 13: 48,969,533 (GRCm39) D608G unknown Het
Plch2 T C 4: 155,068,829 (GRCm39) T1266A probably benign Het
Prdm12 A G 2: 31,533,889 (GRCm39) N169D probably damaging Het
Rimbp3 A G 16: 17,030,134 (GRCm39) Y1186C probably damaging Het
Serpinb3d T C 1: 107,006,989 (GRCm39) M240V probably damaging Het
Slc25a38 C T 9: 119,945,658 (GRCm39) R74C probably damaging Het
Slc25a39 A T 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc26a8 T C 17: 28,867,129 (GRCm39) N564S probably damaging Het
Spag4 G A 2: 155,907,696 (GRCm39) probably benign Het
Stx1b A G 7: 127,407,035 (GRCm39) M74T possibly damaging Het
Tbc1d1 A G 5: 64,507,242 (GRCm39) D1153G probably benign Het
Tert T C 13: 73,776,700 (GRCm39) F484L probably benign Het
Tet1 A G 10: 62,649,494 (GRCm39) V72A probably benign Het
Tnfrsf13c T C 15: 82,107,355 (GRCm39) T147A probably damaging Het
Trpa1 A T 1: 14,959,710 (GRCm39) Y659N probably damaging Het
Trpm2 A G 10: 77,761,516 (GRCm39) F1045L probably benign Het
Ttc13 T C 8: 125,405,772 (GRCm39) H529R probably benign Het
Ttn T C 2: 76,545,614 (GRCm39) T32570A probably damaging Het
Uba7 A G 9: 107,860,359 (GRCm39) T892A possibly damaging Het
Uty A T Y: 1,174,836 (GRCm39) M195K probably benign Het
Zfp109 A G 7: 23,928,978 (GRCm39) S152P possibly damaging Het
Zfp532 T C 18: 65,777,281 (GRCm39) V846A probably damaging Het
Zfp658 A T 7: 43,223,951 (GRCm39) H742L possibly damaging Het
Zfp831 C A 2: 174,547,299 (GRCm39) P1494Q probably 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
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'- TGGGACTCCAGTAAAGTATGATATG -3'
(R):5'- GCTGTATTCAGAGACATTTCAGAGAG -3'

Sequencing Primer
(F):5'- TGAAAGCAGTTCACCTTTGATAAGG -3'
(R):5'- TTCAGAGACATTTCAGAGAGTAGAG -3'
Posted On 2017-08-16