Incidental Mutation 'R7664:Mfsd6'
ID 591752
Institutional Source Beutler Lab
Gene Symbol Mfsd6
Ensembl Gene ENSMUSG00000041439
Gene Name major facilitator superfamily domain containing 6
Synonyms 2210010L05Rik, 9630025I22Rik, MMR2
MMRRC Submission 045704-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R7664 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 52695463-52766495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52748212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 218 (S218T)
Ref Sequence ENSEMBL: ENSMUSP00000084991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087701] [ENSMUST00000156876]
AlphaFold Q8CBH5
Predicted Effect probably benign
Transcript: ENSMUST00000087701
AA Change: S218T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: S218T

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
Pfam:MFS_1_like 68 144 4.8e-19 PFAM
Pfam:MFS_1 70 162 7e-11 PFAM
Pfam:MFS_2 72 571 3.8e-13 PFAM
Pfam:Nuc_H_symport 424 628 1.1e-11 PFAM
Pfam:MFS_1 453 708 6.3e-18 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
AA Change: S48T

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
transmembrane domain 120 142 N/A INTRINSIC
transmembrane domain 163 185 N/A INTRINSIC
transmembrane domain 200 219 N/A INTRINSIC
Pfam:Nuc_H_symport 255 459 1.4e-11 PFAM
Pfam:MFS_1 284 539 6.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156876
AA Change: S218T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: S218T

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
Pfam:MFS_1_like 68 144 6.2e-20 PFAM
Pfam:MFS_1 70 162 1.8e-10 PFAM
low complexity region 258 270 N/A INTRINSIC
transmembrane domain 289 311 N/A INTRINSIC
transmembrane domain 332 354 N/A INTRINSIC
transmembrane domain 369 388 N/A INTRINSIC
Pfam:Nuc_H_symport 424 628 2.6e-11 PFAM
Pfam:MFS_1 453 707 1.7e-17 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (83/84)
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C T 11: 84,136,175 (GRCm39) T510I probably damaging Het
Akap12 G T 10: 4,303,748 (GRCm39) W291L probably damaging Het
Akip1 A T 7: 109,308,187 (GRCm39) I152F probably benign Het
Alpk2 T A 18: 65,440,073 (GRCm39) Y440F probably benign Het
Aox3 A G 1: 58,158,698 (GRCm39) T90A probably damaging Het
Arhgef18 A T 8: 3,436,390 (GRCm39) E228V probably damaging Het
B4galnt4 A G 7: 140,647,626 (GRCm39) K405E probably damaging Het
BC034090 T C 1: 155,117,377 (GRCm39) E247G probably damaging Het
Camkk2 A T 5: 122,894,645 (GRCm39) F216I unknown Het
Carm1 A C 9: 21,498,286 (GRCm39) K430T probably benign Het
Ccdc13 A G 9: 121,643,279 (GRCm39) V374A probably benign Het
Cdh26 T A 2: 178,111,835 (GRCm39) M465K probably benign Het
Ceacam10 A T 7: 24,477,757 (GRCm39) M91L probably benign Het
Chrnb1 T C 11: 69,677,850 (GRCm39) T301A possibly damaging Het
Clec4a3 A G 6: 122,943,381 (GRCm39) D101G probably benign Het
Cmss1 G A 16: 57,138,310 (GRCm39) P59S probably benign Het
Crhr1 T A 11: 104,059,968 (GRCm39) F138L probably benign Het
Cxcl5 A T 5: 90,907,890 (GRCm39) I107F probably damaging Het
Cxcr1 A G 1: 74,231,834 (GRCm39) S63P probably damaging Het
Cxcr5 A G 9: 44,424,607 (GRCm39) L350P probably benign Het
D5Ertd579e A T 5: 36,771,961 (GRCm39) H811Q probably benign Het
Ddx46 T G 13: 55,806,864 (GRCm39) I499S probably damaging Het
Ddx51 T G 5: 110,804,785 (GRCm39) probably null Het
Dnaja1 C T 4: 40,724,090 (GRCm39) P84S probably benign Het
Dnajc27 A G 12: 4,153,132 (GRCm39) K203E possibly damaging Het
Fam107b T A 2: 3,571,747 (GRCm39) C24S probably damaging Het
Fancg T C 4: 43,010,066 (GRCm39) K11R probably benign Het
Fnip1 T C 11: 54,356,951 (GRCm39) L44P probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Heca A T 10: 17,778,118 (GRCm39) L493Q probably damaging Het
Hrh2 C T 13: 54,368,875 (GRCm39) P284S probably damaging Het
Ifnar1 C G 16: 91,292,082 (GRCm39) A141G probably damaging Het
Igkv6-32 T A 6: 70,051,282 (GRCm39) T25S probably damaging Het
Inppl1 T C 7: 101,479,304 (GRCm39) H525R probably damaging Het
Itga2b A G 11: 102,351,666 (GRCm39) L553P probably damaging Het
Itgbl1 A G 14: 124,083,962 (GRCm39) Y280C probably damaging Het
Kap T C 6: 133,828,920 (GRCm39) I54V probably benign Het
Kcnh4 G T 11: 100,641,148 (GRCm39) L434M probably damaging Het
Klhl14 T C 18: 21,687,706 (GRCm39) D572G probably damaging Het
Klhl41 T A 2: 69,501,061 (GRCm39) L174Q probably damaging Het
Lrp2 T G 2: 69,337,076 (GRCm39) H1232P probably damaging Het
Lyar A G 5: 38,388,161 (GRCm39) E229G probably benign Het
Mark4 A T 7: 19,177,151 (GRCm39) L226Q probably damaging Het
Mcm8 A G 2: 132,685,453 (GRCm39) K823R probably damaging Het
Mlip A T 9: 77,045,828 (GRCm39) I884N possibly damaging Het
Mmrn1 A G 6: 60,953,689 (GRCm39) T657A probably benign Het
Morc2b A G 17: 33,355,376 (GRCm39) Y799H probably benign Het
Muc16 A T 9: 18,519,018 (GRCm39) I6304N probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Naaladl2 T C 3: 24,112,303 (GRCm39) Y593C probably damaging Het
Ncor1 T C 11: 62,289,154 (GRCm39) E341G probably damaging Het
Nrg1 G T 8: 32,499,169 (GRCm39) probably null Het
Nudt3 A G 17: 27,842,149 (GRCm39) L4P probably benign Het
Odf2l T A 3: 144,854,345 (GRCm39) H493Q probably benign Het
Ost4 A C 5: 31,065,007 (GRCm39) probably null Het
Patj A T 4: 98,385,187 (GRCm39) Q840L possibly damaging Het
Pcdh20 T A 14: 88,706,803 (GRCm39) T166S probably benign Het
Pcdhb4 T A 18: 37,442,293 (GRCm39) D534E probably damaging Het
Pik3ap1 T C 19: 41,310,069 (GRCm39) D417G possibly damaging Het
Ppwd1 A T 13: 104,356,798 (GRCm39) V239E probably damaging Het
Prdm9 T A 17: 15,775,833 (GRCm39) Y206F probably damaging Het
Ranbp6 A G 19: 29,789,476 (GRCm39) V292A possibly damaging Het
Rgs21 T A 1: 144,416,987 (GRCm39) M22L probably benign Het
Rnf17 A T 14: 56,676,335 (GRCm39) I399F probably damaging Het
Rph3a T A 5: 121,099,339 (GRCm39) Q184L probably benign Het
Scrn3 T C 2: 73,149,714 (GRCm39) Y137H possibly damaging Het
Sec14l4 C A 11: 3,994,178 (GRCm39) Y342* probably null Het
Serpinb11 G A 1: 107,307,718 (GRCm39) G383D probably damaging Het
Sf3b1 A G 1: 55,026,626 (GRCm39) V1261A probably damaging Het
Sh3tc2 C T 18: 62,148,042 (GRCm39) Q1251* probably null Het
Skor1 A T 9: 63,049,045 (GRCm39) D845E probably benign Het
Slc39a7 A G 17: 34,248,551 (GRCm39) L364P probably damaging Het
Snrpn T C 7: 59,637,239 (GRCm39) I26V probably benign Het
Snx5 A T 2: 144,099,924 (GRCm39) probably null Het
Spag9 T C 11: 93,992,986 (GRCm39) probably null Het
Srrm2 T C 17: 24,039,955 (GRCm39) S2200P probably damaging Het
Stx11 T C 10: 12,817,070 (GRCm39) E218G probably damaging Het
Tmem151b T C 17: 45,856,861 (GRCm39) N193S probably damaging Het
Tmem87b A T 2: 128,690,974 (GRCm39) D525V possibly damaging Het
Ubtfl1 A T 9: 18,320,782 (GRCm39) R103S possibly damaging Het
Vmn1r196 T A 13: 22,477,932 (GRCm39) D190E probably damaging Het
Vmn2r67 T A 7: 84,805,019 (GRCm39) D31V probably benign Het
Zbtb22 T A 17: 34,137,553 (GRCm39) M566K probably benign Het
Zfp568 A T 7: 29,721,715 (GRCm39) H220L probably benign Het
Zfp974 A T 7: 27,610,137 (GRCm39) S529R possibly damaging Het
Other mutations in Mfsd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Mfsd6 APN 1 52,747,413 (GRCm39) missense probably damaging 1.00
IGL00820:Mfsd6 APN 1 52,747,465 (GRCm39) missense probably damaging 1.00
IGL01518:Mfsd6 APN 1 52,748,481 (GRCm39) missense probably damaging 1.00
IGL02111:Mfsd6 APN 1 52,747,503 (GRCm39) missense probably damaging 1.00
IGL02517:Mfsd6 APN 1 52,702,436 (GRCm39) splice site probably benign
IGL02687:Mfsd6 APN 1 52,747,834 (GRCm39) missense probably damaging 0.99
IGL02887:Mfsd6 APN 1 52,748,037 (GRCm39) missense probably benign 0.19
IGL02901:Mfsd6 APN 1 52,747,632 (GRCm39) missense probably benign 0.07
IGL03030:Mfsd6 APN 1 52,748,862 (GRCm39) start codon destroyed probably null 1.00
PIT4280001:Mfsd6 UTSW 1 52,700,039 (GRCm39) missense probably benign 0.00
PIT4466001:Mfsd6 UTSW 1 52,748,056 (GRCm39) missense probably benign 0.03
R0043:Mfsd6 UTSW 1 52,747,811 (GRCm39) nonsense probably null
R0113:Mfsd6 UTSW 1 52,748,348 (GRCm39) missense probably damaging 1.00
R0226:Mfsd6 UTSW 1 52,697,849 (GRCm39) intron probably benign
R0302:Mfsd6 UTSW 1 52,748,616 (GRCm39) missense probably damaging 1.00
R0613:Mfsd6 UTSW 1 52,697,855 (GRCm39) intron probably benign
R1126:Mfsd6 UTSW 1 52,748,670 (GRCm39) missense probably benign 0.16
R1368:Mfsd6 UTSW 1 52,747,764 (GRCm39) missense possibly damaging 0.49
R1471:Mfsd6 UTSW 1 52,748,716 (GRCm39) missense probably benign 0.32
R1733:Mfsd6 UTSW 1 52,748,524 (GRCm39) missense probably damaging 1.00
R1768:Mfsd6 UTSW 1 52,699,964 (GRCm39) critical splice donor site probably null
R1951:Mfsd6 UTSW 1 52,748,517 (GRCm39) missense probably damaging 1.00
R2031:Mfsd6 UTSW 1 52,748,013 (GRCm39) missense probably benign 0.04
R2116:Mfsd6 UTSW 1 52,700,134 (GRCm39) missense probably benign 0.21
R2240:Mfsd6 UTSW 1 52,699,978 (GRCm39) missense probably damaging 0.97
R2242:Mfsd6 UTSW 1 52,748,757 (GRCm39) missense probably benign 0.03
R2303:Mfsd6 UTSW 1 52,715,672 (GRCm39) missense probably damaging 0.98
R2382:Mfsd6 UTSW 1 52,747,569 (GRCm39) missense probably benign 0.10
R4568:Mfsd6 UTSW 1 52,702,448 (GRCm39) nonsense probably null
R4801:Mfsd6 UTSW 1 52,748,755 (GRCm39) missense probably benign 0.08
R4802:Mfsd6 UTSW 1 52,748,755 (GRCm39) missense probably benign 0.08
R4958:Mfsd6 UTSW 1 52,700,183 (GRCm39) missense probably damaging 1.00
R5134:Mfsd6 UTSW 1 52,747,515 (GRCm39) missense possibly damaging 0.80
R5827:Mfsd6 UTSW 1 52,701,551 (GRCm39) missense probably damaging 1.00
R5844:Mfsd6 UTSW 1 52,697,542 (GRCm39) missense probably benign
R6124:Mfsd6 UTSW 1 52,747,411 (GRCm39) missense probably damaging 1.00
R6435:Mfsd6 UTSW 1 52,748,603 (GRCm39) nonsense probably null
R6515:Mfsd6 UTSW 1 52,700,120 (GRCm39) missense probably damaging 1.00
R6874:Mfsd6 UTSW 1 52,699,868 (GRCm39) missense probably benign 0.02
R6878:Mfsd6 UTSW 1 52,747,912 (GRCm39) missense probably damaging 0.98
R7111:Mfsd6 UTSW 1 52,748,917 (GRCm39) splice site probably null
R7170:Mfsd6 UTSW 1 52,701,547 (GRCm39) critical splice donor site probably null
R7242:Mfsd6 UTSW 1 52,748,633 (GRCm39) missense probably damaging 0.98
R7548:Mfsd6 UTSW 1 52,702,446 (GRCm39) missense possibly damaging 0.79
R7686:Mfsd6 UTSW 1 52,701,554 (GRCm39) missense probably benign 0.00
R7747:Mfsd6 UTSW 1 52,715,706 (GRCm39) missense probably benign 0.05
R7763:Mfsd6 UTSW 1 52,747,799 (GRCm39) missense probably benign
R8138:Mfsd6 UTSW 1 52,748,671 (GRCm39) missense probably benign
R8150:Mfsd6 UTSW 1 52,747,800 (GRCm39) missense probably benign 0.00
R8807:Mfsd6 UTSW 1 52,697,706 (GRCm39) critical splice acceptor site probably benign
R8938:Mfsd6 UTSW 1 52,748,454 (GRCm39) missense probably damaging 1.00
R9229:Mfsd6 UTSW 1 52,747,903 (GRCm39) missense probably damaging 1.00
R9276:Mfsd6 UTSW 1 52,747,514 (GRCm39) nonsense probably null
R9480:Mfsd6 UTSW 1 52,699,835 (GRCm39) missense unknown
Z1177:Mfsd6 UTSW 1 52,697,660 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTGTTGGTCATACACAAGGG -3'
(R):5'- TGTCAAACCTGCTACCTTGAGATG -3'

Sequencing Primer
(F):5'- GACTTGATCAGATGGTAAAGATTTGG -3'
(R):5'- CTGCTACCTTGAGATGTCTACCAAAG -3'
Posted On 2019-11-12