Incidental Mutation 'IGL02965:Mfsd3'
ID365518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd3
Ensembl Gene ENSMUSG00000019080
Gene Namemajor facilitator superfamily domain containing 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02965
Quality Score
Status
Chromosome15
Chromosomal Location76701465-76704239 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76703152 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 345 (H345R)
Ref Sequence ENSEMBL: ENSMUSP00000019224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019224] [ENSMUST00000023203] [ENSMUST00000036852] [ENSMUST00000229140] [ENSMUST00000229679] [ENSMUST00000229734] [ENSMUST00000230544] [ENSMUST00000230724]
Predicted Effect probably benign
Transcript: ENSMUST00000019224
AA Change: H345R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000019224
Gene: ENSMUSG00000019080
AA Change: H345R

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 noncoding transcript
Transcript: ENSMUST00000229340
Predicted Effect probably benign
Transcript: ENSMUST00000229679
Predicted Effect probably benign
Transcript: ENSMUST00000229734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230482
Predicted Effect probably benign
Transcript: ENSMUST00000230544
Predicted Effect probably benign
Transcript: ENSMUST00000230724
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,180,613 K1471R probably benign Het
Add1 A G 5: 34,620,123 S77G probably damaging Het
Atm G T 9: 53,453,563 N2642K probably damaging Het
Atp6v0a2 T A 5: 124,629,202 M10K possibly damaging Het
Btd T A 14: 31,667,236 S305T probably damaging Het
Cmya5 C T 13: 93,092,557 V2008I probably benign Het
Cpd T G 11: 76,790,988 probably benign Het
Dis3l A G 9: 64,310,484 F772L probably damaging Het
Dlg5 A T 14: 24,172,023 I517N probably damaging Het
Fig4 G A 10: 41,285,665 T34M probably damaging Het
Flna C T X: 74,227,210 V2235I probably damaging Het
Flot2 T C 11: 78,059,205 I371T possibly damaging Het
Fsip2 G A 2: 82,983,054 S3239N probably benign Het
Gbp3 A G 3: 142,567,582 I297V probably benign Het
Gcnt3 T C 9: 70,034,953 E111G probably benign Het
Gdi1 G T X: 74,307,725 A148S probably benign Het
Heatr5b G A 17: 78,753,073 H2058Y probably benign Het
Hsp90aa1 A G 12: 110,695,679 M1T probably null Het
Iltifb A G 10: 118,294,857 S45P probably damaging Het
Inppl1 C A 7: 101,828,271 V715F possibly damaging Het
Kansl1 T C 11: 104,335,165 Y975C probably damaging Het
Kif18b A G 11: 102,916,512 probably benign Het
Krt40 T A 11: 99,541,666 R175W probably damaging Het
Map3k19 T C 1: 127,824,066 D516G probably damaging Het
Mlkl A T 8: 111,331,837 I162N probably benign Het
Mtnr1a A T 8: 45,069,382 N58I probably damaging Het
Nsmf T C 2: 25,061,762 V499A probably damaging Het
Nudt6 A G 3: 37,419,506 L22P probably damaging Het
Nxf7 T G X: 135,589,410 E35A probably damaging Het
Olfr748 A C 14: 50,711,196 I289L probably damaging Het
Paf1 T C 7: 28,396,204 probably null Het
Pcdhb11 G T 18: 37,423,968 V784L probably benign Het
Pglyrp2 T C 17: 32,418,586 D156G probably benign Het
Pnpt1 A G 11: 29,156,939 D670G probably damaging Het
Polr1b T A 2: 129,125,523 H945Q probably benign Het
Ptk6 C T 2: 181,199,068 probably benign Het
Rftn1 C T 17: 50,055,252 E273K probably benign Het
Rnf125 A G 18: 20,983,111 I117V probably benign Het
Robo4 A G 9: 37,410,469 K742R possibly damaging Het
Sez6l T C 5: 112,475,574 E37G probably damaging Het
Skint4 A T 4: 112,136,021 I306L probably benign Het
Sntb1 A T 15: 55,642,685 Y497* probably null Het
Snx27 C A 3: 94,582,426 V42L probably damaging Het
Sorbs1 T A 19: 40,376,743 T199S probably benign Het
Sorcs2 A G 5: 36,077,957 Y72H probably benign Het
Spef2 G T 15: 9,725,106 probably benign Het
Sucla2 G T 14: 73,579,431 V204L probably benign Het
Tescl C A 7: 24,333,673 V76F probably damaging Het
Tnxb T A 17: 34,709,654 Y2681N possibly damaging Het
Usp42 T C 5: 143,728,014 T2A probably damaging Het
Vdac3-ps1 T A 13: 18,030,846 noncoding transcript Het
Wapl T A 14: 34,739,224 probably benign Het
Other mutations in Mfsd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03159:Mfsd3 APN 15 76702901 missense probably benign
R1232:Mfsd3 UTSW 15 76703182 missense probably damaging 1.00
R1389:Mfsd3 UTSW 15 76702689 missense probably benign 0.01
R1535:Mfsd3 UTSW 15 76702779 missense probably damaging 1.00
R4159:Mfsd3 UTSW 15 76701745 missense probably damaging 1.00
R4993:Mfsd3 UTSW 15 76701982 missense probably damaging 1.00
R5307:Mfsd3 UTSW 15 76702171 nonsense probably null
R6902:Mfsd3 UTSW 15 76703149 missense probably damaging 1.00
R6946:Mfsd3 UTSW 15 76703149 missense probably damaging 1.00
Posted On2015-12-18