Incidental Mutation 'IGL01135:Mfsd4b3'
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ID52148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd4b3
Ensembl Gene ENSMUSG00000071335
Gene Namemajor facilitator superfamily domain containing 4B3
SynonymsG630090E17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL01135
Quality Score
Status
Chromosome10
Chromosomal Location39946907-39960153 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39948072 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 64 (M64T)
Ref Sequence ENSEMBL: ENSMUSP00000093420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095749]
Predicted Effect probably benign
Transcript: ENSMUST00000095749
AA Change: M64T

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093420
Gene: ENSMUSG00000071335
AA Change: M64T

DomainStartEndE-ValueType
transmembrane domain 2 21 N/A INTRINSIC
transmembrane domain 31 53 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 125 147 N/A INTRINSIC
transmembrane domain 173 195 N/A INTRINSIC
transmembrane domain 236 258 N/A INTRINSIC
transmembrane domain 265 287 N/A INTRINSIC
transmembrane domain 297 319 N/A INTRINSIC
transmembrane domain 326 348 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
5730507C01Rik G A 12: 18,533,374 R145H possibly damaging Het
Acox3 T A 5: 35,588,752 V93E probably benign Het
Ankar T C 1: 72,665,219 N848S probably benign Het
Blzf1 A G 1: 164,303,930 probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Ckmt1 A C 2: 121,361,150 D267A probably damaging Het
Dtl G T 1: 191,548,330 T364K probably damaging Het
Fam46a A G 9: 85,326,599 V57A probably damaging Het
Fat1 T A 8: 45,024,840 F2308I probably damaging Het
Fbxo41 A T 6: 85,477,908 S673T probably benign Het
Flnb G A 14: 7,909,736 V1397I probably benign Het
Gdi2 A G 13: 3,548,855 probably benign Het
Gm5155 A T 7: 17,902,471 noncoding transcript Het
Grik3 C T 4: 125,632,415 T147I probably benign Het
Htr1a T C 13: 105,445,284 V344A possibly damaging Het
Isg20l2 A T 3: 87,931,761 D93V probably damaging Het
Kcnt2 T C 1: 140,354,555 probably null Het
Nox3 T A 17: 3,696,252 probably benign Het
Olfr693 C T 7: 106,678,193 A98T probably benign Het
Pikfyve T A 1: 65,251,635 N1204K probably damaging Het
Pou4f3 C T 18: 42,395,966 Q325* probably null Het
Rap1a T A 3: 105,732,035 T103S probably benign Het
Rfc4 G A 16: 23,115,776 R165C probably damaging Het
Smtnl1 A G 2: 84,818,887 S8P probably benign Het
Syt17 C T 7: 118,382,047 G351S possibly damaging Het
Tcf20 T A 15: 82,853,900 M1117L probably benign Het
Tgfbr3 A T 5: 107,215,028 H39Q probably damaging Het
Trdmt1 T C 2: 13,521,260 probably null Het
Twf2 A G 9: 106,212,828 I127V probably benign Het
Unc13c A G 9: 73,484,893 V2059A probably damaging Het
Other mutations in Mfsd4b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02903:Mfsd4b3 APN 10 39947643 missense possibly damaging 0.76
IGL02984:Mfsd4b3 APN 10 39947188 utr 3 prime probably benign
IGL03013:Mfsd4b3 APN 10 39947895 missense probably benign 0.00
R0322:Mfsd4b3 UTSW 10 39947530 missense probably damaging 0.99
R1238:Mfsd4b3 UTSW 10 39947226 missense probably damaging 0.97
R1750:Mfsd4b3 UTSW 10 39947933 missense probably benign
R2345:Mfsd4b3 UTSW 10 39948073 missense probably benign
R4027:Mfsd4b3 UTSW 10 39947347 missense probably benign
R4906:Mfsd4b3 UTSW 10 39948060 missense probably damaging 1.00
R4965:Mfsd4b3 UTSW 10 39947690 nonsense probably null
R6456:Mfsd4b3 UTSW 10 39947320 missense probably benign 0.00
X0026:Mfsd4b3 UTSW 10 39947433 missense probably damaging 1.00
Posted On2013-06-21