Incidental Mutation 'R1471:Mfsd6'
ID 164845
Institutional Source Beutler Lab
Gene Symbol Mfsd6
Ensembl Gene ENSMUSG00000041439
Gene Name major facilitator superfamily domain containing 6
Synonyms 2210010L05Rik, 9630025I22Rik, MMR2
MMRRC Submission 039524-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R1471 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 52695463-52766495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52748716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 50 (I50F)
Ref Sequence ENSEMBL: ENSMUSP00000122881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087701] [ENSMUST00000156876]
AlphaFold Q8CBH5
Predicted Effect probably benign
Transcript: ENSMUST00000087701
AA Change: I50F

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: I50F

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 noncoding transcript
Transcript: ENSMUST00000147421
Predicted Effect probably benign
Transcript: ENSMUST00000147758
SMART Domains Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439

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: I50F

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: I50F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190228
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik C A 13: 61,001,336 (GRCm39) K130N probably damaging Het
Adam6a T A 12: 113,508,013 (GRCm39) S129T probably damaging Het
Adamts10 T A 17: 33,772,112 (GRCm39) F1087I probably damaging Het
Afp T A 5: 90,651,541 (GRCm39) N385K possibly damaging Het
Ahnak T G 19: 8,990,296 (GRCm39) probably benign Het
Akap6 A G 12: 53,188,279 (GRCm39) T1898A probably benign Het
Antxr2 C A 5: 98,123,199 (GRCm39) V283F possibly damaging Het
Asgr1 T C 11: 69,946,919 (GRCm39) V55A possibly damaging Het
Asxl3 A G 18: 22,649,411 (GRCm39) K467E probably damaging Het
Atp5f1a C A 18: 77,868,969 (GRCm39) Q398K probably damaging Het
Atxn2 T A 5: 121,924,437 (GRCm39) D455E probably damaging Het
B4galt6 C T 18: 20,878,410 (GRCm39) A39T possibly damaging Het
C130073F10Rik C T 4: 101,747,535 (GRCm39) E165K probably benign Het
Cabin1 A G 10: 75,530,626 (GRCm39) C1519R probably damaging Het
Casp8ap2 C T 4: 32,639,386 (GRCm39) R147* probably null Het
Ccdc88b A G 19: 6,831,391 (GRCm39) L517P probably benign Het
Cd109 G A 9: 78,561,869 (GRCm39) V220I probably damaging Het
Cd2ap T C 17: 43,131,488 (GRCm39) K369R probably benign Het
Cd300c A G 11: 114,850,614 (GRCm39) V63A probably benign Het
Cnot10 A G 9: 114,420,619 (GRCm39) V741A probably benign Het
Col18a1 G T 10: 76,932,040 (GRCm39) Q350K unknown Het
Crnkl1 T C 2: 145,774,236 (GRCm39) K76E possibly damaging Het
Cryzl2 A G 1: 157,298,291 (GRCm39) K227E probably benign Het
Cts6 G A 13: 61,344,194 (GRCm39) T286I probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Dcaf7 T A 11: 105,937,573 (GRCm39) F65L probably benign Het
Dgke A C 11: 88,946,320 (GRCm39) V160G possibly damaging Het
Dock8 C A 19: 25,178,400 (GRCm39) Q2098K possibly damaging Het
Efhb T A 17: 53,706,140 (GRCm39) D799V possibly damaging Het
Ephb2 T C 4: 136,386,262 (GRCm39) D829G probably benign Het
Exosc1 A T 19: 41,913,157 (GRCm39) S117R probably damaging Het
Fga T C 3: 82,935,925 (GRCm39) S51P probably benign Het
Fmn1 T C 2: 113,523,439 (GRCm39) F1141L possibly damaging Het
Foxm1 C T 6: 128,350,837 (GRCm39) L713F probably damaging Het
Galnt4 A G 10: 98,944,536 (GRCm39) E87G probably benign Het
Gamt T C 10: 80,096,692 (GRCm39) D15G probably benign Het
Gm15557 C A 2: 155,784,174 (GRCm39) D154E possibly damaging Het
Gnptab A G 10: 88,281,625 (GRCm39) I1211V probably benign Het
Greb1 A T 12: 16,761,775 (GRCm39) M535K probably damaging Het
Grm8 C A 6: 27,363,308 (GRCm39) A736S possibly damaging Het
Hspa14 T C 2: 3,492,645 (GRCm39) I373M probably benign Het
Ifi207 T A 1: 173,557,629 (GRCm39) T370S unknown Het
Igf1r A G 7: 67,653,585 (GRCm39) N41S probably damaging Het
Ikzf5 A T 7: 130,993,496 (GRCm39) V224D probably damaging Het
Il10 C A 1: 130,949,110 (GRCm39) Y90* probably null Het
Itga4 A G 2: 79,117,376 (GRCm39) D394G probably benign Het
Kif21a A T 15: 90,840,622 (GRCm39) S1165T probably benign Het
Krtap14 A G 16: 88,622,515 (GRCm39) S155P probably damaging Het
Loxl2 A G 14: 69,930,546 (GRCm39) N770S probably benign Het
Man2b1 A G 8: 85,813,474 (GRCm39) D222G probably damaging Het
Mcub T A 3: 129,709,464 (GRCm39) Y283F probably damaging Het
Meis3 T A 7: 15,911,496 (GRCm39) Y64* probably null Het
Micu2 T C 14: 58,182,854 (GRCm39) T165A probably damaging Het
Mtcl1 T C 17: 66,686,143 (GRCm39) E921G probably damaging Het
Muc5b A T 7: 141,396,971 (GRCm39) N215Y unknown Het
Muc6 A G 7: 141,234,176 (GRCm39) F772L possibly damaging Het
Myt1 A G 2: 181,438,904 (GRCm39) D142G probably benign Het
Nol6 C T 4: 41,120,281 (GRCm39) V479I probably benign Het
Nsun7 A G 5: 66,441,572 (GRCm39) K414E probably benign Het
Nup210l A C 3: 90,077,869 (GRCm39) I914L probably benign Het
Obox3 G A 7: 15,360,875 (GRCm39) P88L probably benign Het
Or10ag57 A G 2: 87,218,862 (GRCm39) Y271C probably damaging Het
Or4f4b T C 2: 111,314,351 (GRCm39) L192P probably damaging Het
Or8h8 C T 2: 86,752,922 (GRCm39) probably null Het
Or8w1 T C 2: 87,466,014 (GRCm39) T26A probably benign Het
Pclo T C 5: 14,730,441 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,545,688 (GRCm39) N745D probably damaging Het
Pdzrn3 T A 6: 101,128,473 (GRCm39) N731I possibly damaging Het
Pkdrej T A 15: 85,701,334 (GRCm39) Q1534L probably benign Het
Pramel28 T C 4: 143,691,523 (GRCm39) N400S probably benign Het
Rell1 T A 5: 64,093,428 (GRCm39) D109V probably damaging Het
Rplp0 C T 5: 115,701,403 (GRCm39) T285I probably damaging Het
Sanbr A T 11: 23,565,222 (GRCm39) M255K probably damaging Het
Sema3g C T 14: 30,950,002 (GRCm39) R728C probably damaging Het
Slc15a2 A G 16: 36,574,153 (GRCm39) Y536H probably damaging Het
Slc26a5 T A 5: 22,021,962 (GRCm39) Y488F probably benign Het
Slc5a4a A T 10: 76,022,362 (GRCm39) S566C probably damaging Het
Spink7 C T 18: 62,729,275 (GRCm39) E21K possibly damaging Het
Src C T 2: 157,299,107 (GRCm39) Q35* probably null Het
Srrm2 T A 17: 24,039,770 (GRCm39) V2234E probably damaging Het
Stk36 A T 1: 74,650,314 (GRCm39) Q282L probably benign Het
Tas2r118 T G 6: 23,969,170 (GRCm39) E297A probably damaging Het
Terf1 A G 1: 15,913,194 (GRCm39) Y385C probably damaging Het
Tmc3 T C 7: 83,247,498 (GRCm39) S198P probably damaging Het
Tmprss11b C T 5: 86,808,355 (GRCm39) R407H possibly damaging Het
Tspyl4 G A 10: 34,174,107 (GRCm39) E200K probably damaging Het
Ttc21a T C 9: 119,771,707 (GRCm39) Y169H probably damaging Het
Ugt2b36 C T 5: 87,239,930 (GRCm39) D152N probably damaging Het
Unk T C 11: 115,940,235 (GRCm39) I196T probably benign Het
Uroc1 T G 6: 90,321,153 (GRCm39) V243G probably damaging Het
Usp34 C A 11: 23,438,862 (GRCm39) Q3475K probably benign Het
Vmn2r117 T A 17: 23,697,447 (GRCm39) I82L probably benign Het
Vmn2r44 A T 7: 8,380,882 (GRCm39) V337E probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp362 T C 4: 128,680,993 (GRCm39) T111A probably benign Het
Zfp598 T C 17: 24,899,046 (GRCm39) V615A probably benign 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
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
R7664:Mfsd6 UTSW 1 52,748,212 (GRCm39) missense probably benign 0.00
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'- GCCCTTTCTGAAACGATCTGCAAC -3'
(R):5'- TGACCCTAATGGTGGTGGTAAGCC -3'

Sequencing Primer
(F):5'- TTCAATGAAGTATCGAATGCCCAC -3'
(R):5'- CATGGCTGCTGATGATAAAGTTG -3'
Posted On 2014-03-28