Incidental Mutation 'IGL00503:Mfsd6l'
ID332510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd6l
Ensembl Gene ENSMUSG00000048329
Gene Namemajor facilitator superfamily domain containing 6-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL00503
Quality Score
Status
Chromosome11
Chromosomal Location68556186-68558245 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 68556473 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 50 (I50N)
Ref Sequence ENSEMBL: ENSMUSP00000061601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053211] [ENSMUST00000060441] [ENSMUST00000102613]
Predicted Effect probably damaging
Transcript: ENSMUST00000053211
AA Change: I50N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061601
Gene: ENSMUSG00000048329
AA Change: I50N

DomainStartEndE-ValueType
Pfam:MFS_1_like 28 88 1.6e-7 PFAM
transmembrane domain 284 303 N/A INTRINSIC
transmembrane domain 318 340 N/A INTRINSIC
Pfam:MFS_1 365 555 4e-11 PFAM
low complexity region 557 571 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000060441
SMART Domains Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207

DomainStartEndE-ValueType
Pfam:PI3K_1B_p101 7 306 7.4e-28 PFAM
low complexity region 310 324 N/A INTRINSIC
Pfam:PI3K_1B_p101 394 755 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102613
SMART Domains Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207

DomainStartEndE-ValueType
Pfam:PI3K_1B_p101 3 335 1.8e-111 PFAM
Pfam:PI3K_1B_p101 332 752 1.6e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153671
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 68,950,102 R14* probably null Het
Abcb5 A G 12: 118,907,601 S688P probably benign Het
Adgb T A 10: 10,406,099 Q597L possibly damaging Het
Aga G A 8: 53,518,921 V210I probably benign Het
Akap17b A G X: 36,612,310 S515P probably damaging Het
Brinp3 A T 1: 146,901,167 T451S probably benign Het
Cabcoco1 G T 10: 68,541,805 T18N possibly damaging Het
Ccar2 C T 14: 70,142,531 W402* probably null Het
Ccdc15 G A 9: 37,320,473 A185V probably damaging Het
Ccdc50 G A 16: 27,409,352 E90K probably damaging Het
Cckbr G A 7: 105,434,242 M217I probably benign Het
Clec16a A G 16: 10,694,649 T398A possibly damaging Het
Col4a1 A G 8: 11,240,076 probably benign Het
Cyp4v3 T A 8: 45,307,021 E498V probably damaging Het
Dgke T C 11: 89,041,501 I488V probably benign Het
Dip2c A G 13: 9,567,898 D443G probably damaging Het
Edem3 T G 1: 151,818,513 S852A probably benign Het
Fbxo8 T A 8: 56,588,023 M158K probably benign Het
Galnt15 C T 14: 32,052,356 T359M possibly damaging Het
Herc6 A G 6: 57,607,145 N330D probably benign Het
Kdf1 T C 4: 133,528,157 S62P probably damaging Het
Larp4 T A 15: 99,987,421 I51N probably damaging Het
Mroh2b A G 15: 4,899,197 Y4C probably benign Het
Muc3 G T 5: 137,137,123 Y343* probably null Het
Myom2 A C 8: 15,114,289 probably null Het
Npat A T 9: 53,572,649 probably benign Het
Pamr1 A T 2: 102,642,272 I639F possibly damaging Het
Pcsk2 A G 2: 143,793,239 S345G probably damaging Het
Pcyt1a A G 16: 32,467,101 T197A probably damaging Het
Pkd1 A G 17: 24,565,427 M316V probably benign Het
Plekhs1 T C 19: 56,464,599 probably null Het
Sema3e G T 5: 14,240,572 R557M probably damaging Het
Sgsm1 T C 5: 113,276,142 N154S probably benign Het
Smg1 A T 7: 118,185,483 probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spats1 A T 17: 45,454,085 probably null Het
Tnfaip6 T G 2: 52,055,847 V235G probably damaging Het
Trim34a A T 7: 104,261,331 T447S probably damaging Het
Tut1 G A 19: 8,959,096 A95T probably damaging Het
Urgcp C T 11: 5,716,448 R630Q possibly damaging Het
Vmn1r125 G T 7: 21,272,181 M1I probably null Het
Vmn2r99 A G 17: 19,378,854 T267A probably benign Het
Wdr5 A G 2: 27,520,867 K162E probably benign Het
Zscan26 T G 13: 21,445,101 K285Q probably damaging Het
Other mutations in Mfsd6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02292:Mfsd6l APN 11 68557750 missense probably benign 0.00
R0086:Mfsd6l UTSW 11 68556565 missense probably benign 0.26
R0180:Mfsd6l UTSW 11 68556545 missense possibly damaging 0.87
R1547:Mfsd6l UTSW 11 68556608 missense probably damaging 0.98
R4831:Mfsd6l UTSW 11 68556505 missense probably benign 0.00
R4881:Mfsd6l UTSW 11 68557922 missense probably benign 0.04
R5237:Mfsd6l UTSW 11 68557270 missense probably benign 0.26
R5244:Mfsd6l UTSW 11 68557175 missense possibly damaging 0.94
R5867:Mfsd6l UTSW 11 68557210 missense possibly damaging 0.94
R5961:Mfsd6l UTSW 11 68556542 missense possibly damaging 0.69
R7337:Mfsd6l UTSW 11 68557283 missense possibly damaging 0.93
R7343:Mfsd6l UTSW 11 68557048 missense possibly damaging 0.74
R7526:Mfsd6l UTSW 11 68558038 missense probably damaging 1.00
R7686:Mfsd6l UTSW 11 68557226 missense probably benign 0.01
R7715:Mfsd6l UTSW 11 68557550 missense probably damaging 1.00
R8555:Mfsd6l UTSW 11 68557072 missense probably benign 0.05
Z1177:Mfsd6l UTSW 11 68556982 missense possibly damaging 0.80
Z1177:Mfsd6l UTSW 11 68557714 missense probably damaging 1.00
Posted On2015-08-05