Incidental Mutation 'PIT4280001:Mfsd6'
ID 554389
Institutional Source Beutler Lab
Gene Symbol Mfsd6
Ensembl Gene ENSMUSG00000041439
Gene Name major facilitator superfamily domain containing 6
Synonyms 2210010L05Rik, 9630025I22Rik, MMR2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # PIT4280001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 52695463-52766495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52700039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 703 (Y703F)
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: Y703F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: Y703F

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: Y533F

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: Y703F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: Y703F

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
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.9%
  • 10x: 85.5%
  • 20x: 73.2%
Validation Efficiency
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,331,660 (GRCm39) D161G probably damaging Het
Acer2 C T 4: 86,805,320 (GRCm39) L95F probably damaging Het
Adam15 C T 3: 89,251,285 (GRCm39) probably null Het
Aoc1l3 A T 6: 48,964,054 (GRCm39) M21L probably benign Het
Bmi1 T A 2: 18,687,820 (GRCm39) Y98* probably null Het
Cdon T C 9: 35,398,231 (GRCm39) C983R probably damaging Het
Cfap91 C T 16: 38,153,135 (GRCm39) V160I probably benign Het
Col12a1 T C 9: 79,585,387 (GRCm39) R1297G probably damaging Het
Cpd A T 11: 76,681,850 (GRCm39) M1132K probably benign Het
Dnah17 T A 11: 117,989,408 (GRCm39) R1267W possibly damaging Het
Dnah9 G A 11: 65,895,839 (GRCm39) A2512V probably benign Het
Eri3 G A 4: 117,439,831 (GRCm39) G175D probably damaging Het
Fbxo9 C A 9: 77,994,793 (GRCm39) W244L probably damaging Het
Fgfr3 A T 5: 33,889,576 (GRCm39) H343L probably benign Het
Fmnl2 G A 2: 53,008,208 (GRCm39) A803T unknown Het
Fmnl3 A G 15: 99,219,134 (GRCm39) probably null Het
Fth1 C A 19: 9,961,973 (GRCm39) A104E probably damaging Het
Gcm1 T C 9: 77,966,915 (GRCm39) Y45H probably damaging Het
Gm5157 C G 7: 20,919,007 (GRCm39) G179R probably damaging Het
Gpr179 A G 11: 97,234,941 (GRCm39) I463T probably damaging Het
Gpr35 T C 1: 92,910,356 (GRCm39) Y23H probably damaging Het
Inpp4b C T 8: 82,761,046 (GRCm39) H647Y probably benign Het
Kif6 A T 17: 50,062,148 (GRCm39) K436M probably benign Het
Lacc1 T A 14: 77,272,517 (GRCm39) Q93L probably damaging Het
Lamc1 T C 1: 153,119,217 (GRCm39) R801G probably damaging Het
Lrp2bp T G 8: 46,476,048 (GRCm39) V263G probably damaging Het
Magi3 T A 3: 103,961,668 (GRCm39) K453N probably damaging Het
Mms22l A G 4: 24,581,149 (GRCm39) T820A probably benign Het
Ndufa12 T C 10: 94,034,994 (GRCm39) probably null Het
Nlrp12 A T 7: 3,290,063 (GRCm39) C150S possibly damaging Het
Noc4l G A 5: 110,799,305 (GRCm39) T159I probably benign Het
Olfml2b T A 1: 170,475,305 (GRCm39) C77S probably damaging Het
Or4c12 A T 2: 89,774,087 (GRCm39) I124N probably damaging Het
Or9a4 C A 6: 40,548,650 (GRCm39) T110K probably damaging Het
Pdzd2 A G 15: 12,399,374 (GRCm39) V784A probably damaging Het
Pip5kl1 A T 2: 32,473,470 (GRCm39) Y369F probably benign Het
Pkdrej A T 15: 85,704,136 (GRCm39) I600N probably benign Het
Psg19 T C 7: 18,530,831 (GRCm39) I108V probably damaging Het
Pxdn G A 12: 30,045,327 (GRCm39) V539M probably damaging Het
Resf1 T G 6: 149,227,023 (GRCm39) I23S probably benign Het
Rsbn1l T A 5: 21,124,653 (GRCm39) H383L probably damaging Het
Scamp2 A T 9: 57,488,076 (GRCm39) N118I probably damaging Het
Scn2a T C 2: 65,546,074 (GRCm39) V879A probably damaging Het
Scn8a G A 15: 100,855,370 (GRCm39) E172K probably damaging Het
Slc16a6 C T 11: 109,349,419 (GRCm39) C214Y possibly damaging Het
Stag1 A G 9: 100,824,769 (GRCm39) T922A possibly damaging Het
Tarbp1 T C 8: 127,157,586 (GRCm39) H1307R probably damaging Het
Tut1 T G 19: 8,936,626 (GRCm39) V150G probably benign Het
Ubr2 G A 17: 47,255,789 (GRCm39) R1371W probably damaging Het
Vmn2r124 A G 17: 18,283,487 (GRCm39) N394D probably benign Het
Vmn2r63 T C 7: 42,553,409 (GRCm39) T616A probably damaging Het
Zp3 G A 5: 136,013,318 (GRCm39) V217M 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
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
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'- CTGTGACAGAGTGATCGCAG -3'
(R):5'- TGTTGGCAGAAAGGATCCC -3'

Sequencing Primer
(F):5'- GAGTGATCGCAGACCACTGATATC -3'
(R):5'- TTGGCAGAAAGGATCCCAGTTCC -3'
Posted On 2019-06-07