Incidental Mutation 'R0948:Mfsd1'
ID 81693
Institutional Source Beutler Lab
Gene Symbol Mfsd1
Ensembl Gene ENSMUSG00000027775
Gene Name major facilitator superfamily domain containing 1
Synonyms 1200003O06Rik
MMRRC Submission 039087-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0948 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 67490101-67511564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67504067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 353 (N353S)
Ref Sequence ENSEMBL: ENSMUSP00000029344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029344]
AlphaFold Q9DC37
Predicted Effect possibly damaging
Transcript: ENSMUST00000029344
AA Change: N353S

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029344
Gene: ENSMUSG00000027775
AA Change: N353S

DomainStartEndE-ValueType
Pfam:MFS_1 45 404 2.3e-31 PFAM
Pfam:MFS_2 175 443 2.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192776
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik C T 19: 8,867,390 (GRCm39) T63M probably damaging Het
Abcb1a T A 5: 8,790,621 (GRCm39) probably null Het
Ahrr T C 13: 74,361,888 (GRCm39) D537G probably damaging Het
Anxa4 T A 6: 86,718,913 (GRCm39) I269F probably damaging Het
Aoc1l1 A G 6: 48,953,278 (GRCm39) Y401C probably damaging Het
Atm A T 9: 53,407,258 (GRCm39) M1160K probably benign Het
Ccdc175 A G 12: 72,177,897 (GRCm39) Y434H probably damaging Het
Col19a1 C T 1: 24,335,882 (GRCm39) A855T probably damaging Het
Cyp2a4 A G 7: 26,010,213 (GRCm39) D246G probably damaging Het
Dmbt1 T C 7: 130,694,847 (GRCm39) L840P possibly damaging Het
Dock6 A T 9: 21,712,829 (GRCm39) D2009E probably damaging Het
E2f3 C T 13: 30,169,516 (GRCm39) A46T probably damaging Het
Ect2l A T 10: 18,016,334 (GRCm39) C635S probably damaging Het
Fer1l6 A G 15: 58,435,924 (GRCm39) D439G probably benign Het
Hao1 A C 2: 134,372,693 (GRCm39) M105R probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igsf10 A G 3: 59,238,525 (GRCm39) I552T probably damaging Het
Il31ra A G 13: 112,666,912 (GRCm39) S470P possibly damaging Het
Mga T A 2: 119,772,140 (GRCm39) F1667I possibly damaging Het
Niban2 A G 2: 32,812,872 (GRCm39) Y480C probably damaging Het
Nwd2 T C 5: 63,964,655 (GRCm39) V1413A probably damaging Het
Or8b1 T G 9: 38,400,244 (GRCm39) S306R probably benign Het
Or8b50 G A 9: 38,517,787 (GRCm39) V9I possibly damaging Het
Osbpl10 T A 9: 114,996,187 (GRCm39) V119E probably damaging Het
Plec C A 15: 76,089,887 (GRCm39) R151L probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rnase4 G T 14: 51,342,362 (GRCm39) G29C probably damaging Het
Sim1 C A 10: 50,857,423 (GRCm39) S391* probably null Het
Sobp A T 10: 42,898,205 (GRCm39) I460N probably damaging Het
Spns3 A T 11: 72,436,766 (GRCm39) D75E probably damaging Het
Strn4 T A 7: 16,571,638 (GRCm39) C26* probably null Het
Tacstd2 T A 6: 67,512,102 (GRCm39) I197L probably damaging Het
Trpc6 A G 9: 8,610,416 (GRCm39) T295A possibly damaging Het
Txnl1 G T 18: 63,825,191 (GRCm39) S18R possibly damaging Het
U2surp A G 9: 95,343,550 (GRCm39) probably benign Het
Ube2frt A T 12: 36,140,934 (GRCm39) probably benign Het
Vwce A G 19: 10,630,441 (GRCm39) Y500C probably damaging Het
Wdr49 A C 3: 75,358,158 (GRCm39) S196A probably benign Het
Wfs1 T C 5: 37,124,905 (GRCm39) Y662C probably damaging Het
Wnt8b A C 19: 44,498,968 (GRCm39) D133A possibly damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp532 C A 18: 65,756,889 (GRCm39) A274E probably damaging Het
Zfp74 A G 7: 29,635,362 (GRCm39) probably null Het
Other mutations in Mfsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01781:Mfsd1 APN 3 67,495,244 (GRCm39) splice site probably benign
IGL02186:Mfsd1 APN 3 67,503,928 (GRCm39) missense probably benign 0.00
IGL02209:Mfsd1 APN 3 67,505,465 (GRCm39) splice site probably benign
IGL02293:Mfsd1 APN 3 67,505,425 (GRCm39) missense probably damaging 1.00
IGL03132:Mfsd1 APN 3 67,495,273 (GRCm39) missense possibly damaging 0.53
edelweiss UTSW 3 67,503,936 (GRCm39) nonsense probably null
Schneeweiss UTSW 3 67,492,995 (GRCm39) missense possibly damaging 0.79
white UTSW 3 67,497,162 (GRCm39) critical splice acceptor site probably null
R2355:Mfsd1 UTSW 3 67,508,668 (GRCm39) missense probably damaging 1.00
R3407:Mfsd1 UTSW 3 67,504,046 (GRCm39) missense possibly damaging 0.70
R3408:Mfsd1 UTSW 3 67,504,046 (GRCm39) missense possibly damaging 0.70
R3729:Mfsd1 UTSW 3 67,490,298 (GRCm39) missense probably benign 0.03
R3749:Mfsd1 UTSW 3 67,490,286 (GRCm39) missense probably benign 0.09
R4405:Mfsd1 UTSW 3 67,507,943 (GRCm39) missense probably benign 0.07
R4867:Mfsd1 UTSW 3 67,495,320 (GRCm39) critical splice donor site probably null
R5429:Mfsd1 UTSW 3 67,507,293 (GRCm39) missense probably damaging 1.00
R5456:Mfsd1 UTSW 3 67,497,166 (GRCm39) missense probably benign 0.28
R5892:Mfsd1 UTSW 3 67,497,162 (GRCm39) critical splice acceptor site probably null
R6091:Mfsd1 UTSW 3 67,507,270 (GRCm39) splice site probably null
R6120:Mfsd1 UTSW 3 67,501,718 (GRCm39) nonsense probably null
R6671:Mfsd1 UTSW 3 67,492,995 (GRCm39) missense possibly damaging 0.79
R6752:Mfsd1 UTSW 3 67,503,936 (GRCm39) nonsense probably null
R6799:Mfsd1 UTSW 3 67,507,314 (GRCm39) missense probably damaging 0.97
R7117:Mfsd1 UTSW 3 67,507,391 (GRCm39) splice site probably null
R9748:Mfsd1 UTSW 3 67,499,910 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- TGCTCTCTCCATGCAGTATCGTGTA -3'
(R):5'- TGCCCACCAGGTCCATAACTACTT -3'

Sequencing Primer
(F):5'- GCAGTATCGTGTATATCATATCAGC -3'
(R):5'- GGTCCATAACTACTTATGCTCAAGG -3'
Posted On 2013-11-08