Incidental Mutation 'IGL03159:Mfsd3'
ID 411345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd3
Ensembl Gene ENSMUSG00000019080
Gene Name major facilitator superfamily domain containing 3
Synonyms 2310010G13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL03159
Quality Score
Status
Chromosome 15
Chromosomal Location 76585742-76588439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76587101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 285 (T285A)
Ref Sequence ENSEMBL: ENSMUSP00000019224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000023203] [ENSMUST00000036852] [ENSMUST00000229140] [ENSMUST00000230724] [ENSMUST00000229734] [ENSMUST00000230544] [ENSMUST00000229679] [ENSMUST00000231028]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019224
AA Change: T285A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019224
Gene: ENSMUSG00000019080
AA Change: T285A

DomainStartEndE-ValueType
Pfam:MFS_1 8 373 3e-16 PFAM
transmembrane domain 388 407 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000023203
SMART Domains Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 83 484 7.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036852
SMART Domains Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762

DomainStartEndE-ValueType
Pfam:Drc1-Sld2 4 132 2.8e-14 PFAM
low complexity region 169 187 N/A INTRINSIC
low complexity region 368 379 N/A INTRINSIC
ZnF_C2HC 394 410 5.67e-5 SMART
DEXDc 494 701 5.86e-28 SMART
HELICc 736 831 1.48e-24 SMART
Blast:DEXDc 902 1117 3e-46 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229098
Predicted Effect probably benign
Transcript: ENSMUST00000229140
Predicted Effect probably benign
Transcript: ENSMUST00000230724
Predicted Effect probably benign
Transcript: ENSMUST00000229734
Predicted Effect probably benign
Transcript: ENSMUST00000230544
Predicted Effect probably benign
Transcript: ENSMUST00000229679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229340
Predicted Effect probably benign
Transcript: ENSMUST00000231028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230468
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T A 13: 104,580,723 (GRCm39) M812K probably damaging Het
Ctnnal1 G A 4: 56,844,599 (GRCm39) R122W probably benign Het
Cyp2j7 A G 4: 96,115,749 (GRCm39) probably benign Het
Defa29 A G 8: 21,816,978 (GRCm39) V5A possibly damaging Het
Defb22 A G 2: 152,331,995 (GRCm39) F13L probably benign Het
Gmds C A 13: 32,003,934 (GRCm39) D362Y probably damaging Het
Gtf2h1 T C 7: 46,456,167 (GRCm39) V179A possibly damaging Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Kcnk7 T C 19: 5,756,116 (GRCm39) L114P probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lrrc37 T A 11: 103,495,328 (GRCm39) probably benign Het
Or5g27 A G 2: 85,410,284 (GRCm39) R234G probably damaging Het
Prrc2b T C 2: 32,084,498 (GRCm39) M321T probably damaging Het
Sf3b1 A T 1: 55,051,372 (GRCm39) N185K probably benign Het
Smo A G 6: 29,758,504 (GRCm39) R550G probably benign Het
Tbc1d31 T G 15: 57,783,444 (GRCm39) probably null Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r72 A T 7: 85,404,162 (GRCm39) F10I probably benign Het
Other mutations in Mfsd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02965:Mfsd3 APN 15 76,587,352 (GRCm39) missense probably benign 0.01
R1232:Mfsd3 UTSW 15 76,587,382 (GRCm39) missense probably damaging 1.00
R1389:Mfsd3 UTSW 15 76,586,889 (GRCm39) missense probably benign 0.01
R1535:Mfsd3 UTSW 15 76,586,979 (GRCm39) missense probably damaging 1.00
R4159:Mfsd3 UTSW 15 76,585,945 (GRCm39) missense probably damaging 1.00
R4993:Mfsd3 UTSW 15 76,586,182 (GRCm39) missense probably damaging 1.00
R5307:Mfsd3 UTSW 15 76,586,371 (GRCm39) nonsense probably null
R6902:Mfsd3 UTSW 15 76,587,349 (GRCm39) missense probably damaging 1.00
R6946:Mfsd3 UTSW 15 76,587,349 (GRCm39) missense probably damaging 1.00
R9684:Mfsd3 UTSW 15 76,587,183 (GRCm39) missense probably benign
Posted On 2016-08-02