Incidental Mutation 'IGL03132:Mfsd1'
ID 410382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd1
Ensembl Gene ENSMUSG00000027775
Gene Name major facilitator superfamily domain containing 1
Synonyms 1200003O06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03132
Quality Score
Status
Chromosome 3
Chromosomal Location 67490101-67511564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67495273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 131 (I131K)
Ref Sequence ENSEMBL: ENSMUSP00000029344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029344]
AlphaFold Q9DC37
Predicted Effect possibly damaging
Transcript: ENSMUST00000029344
AA Change: I131K

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029344
Gene: ENSMUSG00000027775
AA Change: I131K

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 G A 6: 88,815,941 (GRCm39) R177C probably benign Het
Adam21 C A 12: 81,607,148 (GRCm39) G205* probably null Het
Baz2b T A 2: 59,738,097 (GRCm39) probably benign Het
Col6a3 C T 1: 90,731,615 (GRCm39) G939D probably damaging Het
Csf1r A G 18: 61,261,171 (GRCm39) E749G probably benign Het
Dnm3 C T 1: 161,838,674 (GRCm39) probably null Het
Dsg3 A G 18: 20,657,653 (GRCm39) D241G probably damaging Het
Dst T C 1: 34,295,722 (GRCm39) S6015P probably benign Het
Dvl2 T C 11: 69,896,514 (GRCm39) S183P probably benign Het
Exoc6b T C 6: 84,768,246 (GRCm39) N699S possibly damaging Het
Fat2 T C 11: 55,144,746 (GRCm39) R4043G probably benign Het
Gbp9 T A 5: 105,232,819 (GRCm39) T278S possibly damaging Het
Gm2a T A 11: 54,994,474 (GRCm39) I48N probably damaging Het
Gorasp2 T C 2: 70,514,379 (GRCm39) V232A probably benign Het
Gpa33 G A 1: 165,980,218 (GRCm39) D94N probably benign Het
Il1rap A T 16: 26,498,869 (GRCm39) S123C probably damaging Het
Kctd17 T C 15: 78,319,887 (GRCm39) S102P probably damaging Het
Lamb1 A G 12: 31,350,333 (GRCm39) probably null Het
Pkhd1l1 G A 15: 44,438,013 (GRCm39) C3576Y probably damaging Het
Pla2g4a A T 1: 149,778,035 (GRCm39) probably benign Het
Ptpn11 T A 5: 121,272,878 (GRCm39) D575V possibly damaging Het
Reck A T 4: 43,938,898 (GRCm39) R755* probably null Het
Scgb2b21 A G 7: 33,219,299 (GRCm39) V35A possibly damaging Het
Srpra G A 9: 35,125,574 (GRCm39) probably null Het
Stk11ip T C 1: 75,512,733 (GRCm39) S1025P probably benign Het
Tmprss9 G A 10: 80,730,699 (GRCm39) V742M probably damaging Het
Trh T C 6: 92,220,755 (GRCm39) T36A probably benign Het
Trim35 A G 14: 66,546,595 (GRCm39) E454G probably damaging Het
Vmn2r99 C T 17: 19,598,485 (GRCm39) Q170* 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
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
R0948:Mfsd1 UTSW 3 67,504,067 (GRCm39) missense possibly damaging 0.61
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
Posted On 2016-08-02