Incidental Mutation 'R2240:Mfsd6'
ID 240282
Institutional Source Beutler Lab
Gene Symbol Mfsd6
Ensembl Gene ENSMUSG00000041439
Gene Name major facilitator superfamily domain containing 6
Synonyms 2210010L05Rik, 9630025I22Rik, MMR2
MMRRC Submission 040240-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R2240 (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 C at 52699978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 723 (I723M)
Ref Sequence ENSEMBL: ENSMUSP00000122881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087701] [ENSMUST00000156876]
AlphaFold Q8CBH5
Predicted Effect possibly damaging
Transcript: ENSMUST00000087701
AA Change: I723M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: I723M

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 unknown
Transcript: ENSMUST00000147758
AA Change: I553M
SMART Domains Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
AA Change: I553M

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 noncoding transcript
Transcript: ENSMUST00000149887
Predicted Effect probably damaging
Transcript: ENSMUST00000156876
AA Change: I723M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: I723M

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: ENSMUST00000188126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191873
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,595,417 (GRCm39) I318N probably damaging Het
Abl1 A G 2: 31,690,517 (GRCm39) K679E probably benign Het
Actr8 A G 14: 29,711,714 (GRCm39) H420R possibly damaging Het
Arhgap29 T A 3: 121,805,102 (GRCm39) V897D probably benign Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bicc1 A G 10: 70,782,633 (GRCm39) probably null Het
Brd4 T C 17: 32,432,613 (GRCm39) probably benign Het
Camk2g T C 14: 20,815,514 (GRCm39) E184G probably damaging Het
Camta1 T C 4: 151,169,032 (GRCm39) S240G possibly damaging Het
Cbx7 C A 15: 79,802,558 (GRCm39) A240S probably damaging Het
Ccdc181 A T 1: 164,107,596 (GRCm39) D93V probably damaging Het
Ces2g A C 8: 105,689,134 (GRCm39) S37R probably benign Het
Clca3a1 T A 3: 144,714,746 (GRCm39) R624W probably damaging Het
Clca3b T C 3: 144,531,696 (GRCm39) K703E probably benign Het
Clec2h T C 6: 128,652,845 (GRCm39) V204A probably benign Het
Cltb T C 13: 54,746,967 (GRCm39) N3S possibly damaging Het
Col9a1 A G 1: 24,218,582 (GRCm39) I65V unknown Het
D430041D05Rik C T 2: 103,987,161 (GRCm39) R1895Q probably damaging Het
Dnah1 T C 14: 31,021,931 (GRCm39) S1191G probably benign Het
Ehf G A 2: 103,104,420 (GRCm39) P163S probably benign Het
Fam170b A C 14: 32,557,825 (GRCm39) H220P probably damaging Het
Fastkd1 G A 2: 69,527,297 (GRCm39) T598I probably benign Het
Fignl2 C T 15: 100,951,916 (GRCm39) G122D probably damaging Het
Foxp4 C A 17: 48,182,201 (GRCm39) V530L unknown Het
Gcnt1 G T 19: 17,306,695 (GRCm39) D343E possibly damaging Het
Gja8 T G 3: 96,827,618 (GRCm39) N15H probably benign Het
Gm128 T C 3: 95,148,243 (GRCm39) E17G probably benign Het
Gnl1 T C 17: 36,293,571 (GRCm39) V252A probably benign Het
Gpld1 G A 13: 25,166,490 (GRCm39) probably null Het
Gpr179 A G 11: 97,242,559 (GRCm39) L95P probably damaging Het
Gtf2a1 A T 12: 91,553,513 (GRCm39) D31E possibly damaging Het
Il12a T A 3: 68,601,517 (GRCm39) Y58* probably null Het
Il1r2 T C 1: 40,144,630 (GRCm39) W106R probably damaging Het
Kif26b A G 1: 178,543,488 (GRCm39) S374G probably benign Het
Mafb A T 2: 160,207,947 (GRCm39) V217E probably damaging Het
Mapk13 T A 17: 28,997,085 (GRCm39) D292E probably damaging Het
Matn2 A G 15: 34,433,209 (GRCm39) D871G probably damaging Het
Mdn1 C A 4: 32,765,701 (GRCm39) T5220K possibly damaging Het
Mia2 G A 12: 59,154,668 (GRCm39) S127N probably benign Het
Mpeg1 A C 19: 12,440,402 (GRCm39) E620A probably damaging Het
Mrgprb3 A T 7: 48,293,389 (GRCm39) F54Y probably damaging Het
Mtx2 A G 2: 74,699,696 (GRCm39) I156V probably benign Het
Neurog1 T C 13: 56,399,348 (GRCm39) E133G probably damaging Het
Nid2 G A 14: 19,855,982 (GRCm39) D1236N probably damaging Het
Nif3l1 A G 1: 58,491,288 (GRCm39) T213A probably benign Het
Or7e173 A G 9: 19,938,440 (GRCm39) S265P probably damaging Het
Otog A G 7: 45,890,453 (GRCm39) M1V probably null Het
Pde4dip C T 3: 97,631,480 (GRCm39) R1143K probably benign Het
Pgam2 T C 11: 5,753,265 (GRCm39) probably benign Het
Plec T C 15: 76,090,250 (GRCm39) D30G probably damaging Het
Pramel5 C A 4: 143,999,506 (GRCm39) E194* probably null Het
Prss22 T A 17: 24,215,755 (GRCm39) S56C probably damaging Het
Rab23 A G 1: 33,778,406 (GRCm39) N216S probably benign Het
Rasgrf1 A T 9: 89,858,815 (GRCm39) E491V probably damaging Het
Rbbp8 C T 18: 11,810,726 (GRCm39) T76I probably damaging Het
Rtn2 G A 7: 19,020,754 (GRCm39) probably null Het
Sdr39u1 A T 14: 56,137,124 (GRCm39) N62K probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc26a3 T C 12: 31,507,071 (GRCm39) V342A probably damaging Het
Slc49a3 A G 5: 108,592,573 (GRCm39) S234P probably benign Het
Snx30 G T 4: 59,886,515 (GRCm39) C308F probably damaging Het
Timd2 A T 11: 46,569,043 (GRCm39) V205E probably benign Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfaip6 G A 2: 51,940,926 (GRCm39) D156N probably benign Het
Uggt2 T A 14: 119,232,461 (GRCm39) E1463D probably damaging Het
Urb2 C A 8: 124,756,878 (GRCm39) P862T probably benign Het
Vmn1r64 A T 7: 5,887,369 (GRCm39) L58* probably null Het
Vmn2r3 C A 3: 64,166,483 (GRCm39) G883C probably benign Het
Vps13d A T 4: 144,837,465 (GRCm39) C2707S possibly damaging Het
Wdr11 G T 7: 129,207,418 (GRCm39) probably null Het
Wdr37 T A 13: 8,911,268 (GRCm39) probably benign Het
Wtap G A 17: 13,194,352 (GRCm39) Q95* probably null Het
Zfp26 A T 9: 20,348,563 (GRCm39) L667H probably damaging Het
Zfp268 C T 4: 145,311,891 (GRCm39) 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
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
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'- TAAAGCAGTCTCTTCCTATGCTACC -3'
(R):5'- CGTTCCCATAGCAACCATTG -3'

Sequencing Primer
(F):5'- TGCTACCTGGTAAACACTGTGACAG -3'
(R):5'- AAGATGTCATGCCACGCGTTG -3'
Posted On 2014-10-15