Incidental Mutation 'R6435:Mfsd6'
ID 518731
Institutional Source Beutler Lab
Gene Symbol Mfsd6
Ensembl Gene ENSMUSG00000041439
Gene Name major facilitator superfamily domain containing 6
Synonyms 2210010L05Rik, 9630025I22Rik, MMR2
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R6435 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 52695463-52766495 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 52748603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 87 (Y87*)
Ref Sequence ENSEMBL: ENSMUSP00000122881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087701] [ENSMUST00000156876]
AlphaFold Q8CBH5
Predicted Effect probably null
Transcript: ENSMUST00000087701
AA Change: Y87*
SMART Domains Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: Y87*

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 null
Transcript: ENSMUST00000156876
AA Change: Y87*
SMART Domains Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: Y87*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably 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
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'- TCTCAAGGTAGCAGGTTTGAC -3'
(R):5'- CTTCAATGGCATCTGCAGGG -3'

Sequencing Primer
(F):5'- CTCAAGGTAGCAGGTTTGACAAATCC -3'
(R):5'- GGAACCAGAACCACCTTCTAATG -3'
Posted On 2018-05-24