Incidental Mutation 'IGL00503:Mfsd6l'
ID 332510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd6l
Ensembl Gene ENSMUSG00000048329
Gene Name major facilitator superfamily domain containing 6-like
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL00503
Quality Score
Status
Chromosome 11
Chromosomal Location 68447012-68449071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68447299 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R3N2
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: 69,083,173 (GRCm39) R14* probably null Het
Abcb5 A G 12: 118,871,336 (GRCm39) S688P probably benign Het
Adgb T A 10: 10,281,843 (GRCm39) Q597L possibly damaging Het
Aga G A 8: 53,971,956 (GRCm39) V210I probably benign Het
Akap17b A G X: 35,875,963 (GRCm39) S515P probably damaging Het
Brinp3 A T 1: 146,776,905 (GRCm39) T451S probably benign Het
Cabcoco1 G T 10: 68,377,635 (GRCm39) T18N possibly damaging Het
Ccar2 C T 14: 70,379,980 (GRCm39) W402* probably null Het
Ccdc15 G A 9: 37,231,769 (GRCm39) A185V probably damaging Het
Ccdc50 G A 16: 27,228,102 (GRCm39) E90K probably damaging Het
Cckbr G A 7: 105,083,449 (GRCm39) M217I probably benign Het
Clec16a A G 16: 10,512,513 (GRCm39) T398A possibly damaging Het
Col4a1 A G 8: 11,290,076 (GRCm39) probably benign Het
Cyp4v3 T A 8: 45,760,058 (GRCm39) E498V probably damaging Het
Dgke T C 11: 88,932,327 (GRCm39) I488V probably benign Het
Dip2c A G 13: 9,617,934 (GRCm39) D443G probably damaging Het
Edem3 T G 1: 151,694,264 (GRCm39) S852A probably benign Het
Fbxo8 T A 8: 57,041,058 (GRCm39) M158K probably benign Het
Galnt15 C T 14: 31,774,313 (GRCm39) T359M possibly damaging Het
Herc6 A G 6: 57,584,130 (GRCm39) N330D probably benign Het
Kdf1 T C 4: 133,255,468 (GRCm39) S62P probably damaging Het
Larp4 T A 15: 99,885,302 (GRCm39) I51N probably damaging Het
Mroh2b A G 15: 4,928,679 (GRCm39) Y4C probably benign Het
Muc17 G T 5: 137,165,971 (GRCm39) Y343* probably null Het
Myom2 A C 8: 15,164,289 (GRCm39) probably null Het
Npat A T 9: 53,483,949 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,617 (GRCm39) I639F possibly damaging Het
Pcsk2 A G 2: 143,635,159 (GRCm39) S345G probably damaging Het
Pcyt1a A G 16: 32,285,919 (GRCm39) T197A probably damaging Het
Pkd1 A G 17: 24,784,401 (GRCm39) M316V probably benign Het
Plekhs1 T C 19: 56,453,031 (GRCm39) probably null Het
Sema3e G T 5: 14,290,586 (GRCm39) R557M probably damaging Het
Sgsm1 T C 5: 113,424,008 (GRCm39) N154S probably benign Het
Smg1 A T 7: 117,784,706 (GRCm39) probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spats1 A T 17: 45,765,011 (GRCm39) probably null Het
Tnfaip6 T G 2: 51,945,859 (GRCm39) V235G probably damaging Het
Trim34a A T 7: 103,910,538 (GRCm39) T447S probably damaging Het
Tut1 G A 19: 8,936,460 (GRCm39) A95T probably damaging Het
Urgcp C T 11: 5,666,448 (GRCm39) R630Q possibly damaging Het
Vmn1r125 G T 7: 21,006,106 (GRCm39) M1I probably null Het
Vmn2r99 A G 17: 19,599,116 (GRCm39) T267A probably benign Het
Wdr5 A G 2: 27,410,879 (GRCm39) K162E probably benign Het
Zscan26 T G 13: 21,629,271 (GRCm39) K285Q probably damaging Het
Other mutations in Mfsd6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02292:Mfsd6l APN 11 68,448,576 (GRCm39) missense probably benign 0.00
R0086:Mfsd6l UTSW 11 68,447,391 (GRCm39) missense probably benign 0.26
R0180:Mfsd6l UTSW 11 68,447,371 (GRCm39) missense possibly damaging 0.87
R1547:Mfsd6l UTSW 11 68,447,434 (GRCm39) missense probably damaging 0.98
R4831:Mfsd6l UTSW 11 68,447,331 (GRCm39) missense probably benign 0.00
R4881:Mfsd6l UTSW 11 68,448,748 (GRCm39) missense probably benign 0.04
R5237:Mfsd6l UTSW 11 68,448,096 (GRCm39) missense probably benign 0.26
R5244:Mfsd6l UTSW 11 68,448,001 (GRCm39) missense possibly damaging 0.94
R5867:Mfsd6l UTSW 11 68,448,036 (GRCm39) missense possibly damaging 0.94
R5961:Mfsd6l UTSW 11 68,447,368 (GRCm39) missense possibly damaging 0.69
R7337:Mfsd6l UTSW 11 68,448,109 (GRCm39) missense possibly damaging 0.93
R7343:Mfsd6l UTSW 11 68,447,874 (GRCm39) missense possibly damaging 0.74
R7526:Mfsd6l UTSW 11 68,448,864 (GRCm39) missense probably damaging 1.00
R7686:Mfsd6l UTSW 11 68,448,052 (GRCm39) missense probably benign 0.01
R7715:Mfsd6l UTSW 11 68,448,376 (GRCm39) missense probably damaging 1.00
R8555:Mfsd6l UTSW 11 68,447,898 (GRCm39) missense probably benign 0.05
R9015:Mfsd6l UTSW 11 68,447,536 (GRCm39) missense probably benign 0.00
Z1177:Mfsd6l UTSW 11 68,448,540 (GRCm39) missense probably damaging 1.00
Z1177:Mfsd6l UTSW 11 68,447,808 (GRCm39) missense possibly damaging 0.80
Posted On 2015-08-05