Incidental Mutation 'R1166:Mfsd4b5'
ID101027
Institutional Source Beutler Lab
Gene Symbol Mfsd4b5
Ensembl Gene ENSMUSG00000038528
Gene Namemajor facilitator superfamily domain containing 4B5
SynonymsBC021785
MMRRC Submission 039239-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R1166 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location39958061-39986646 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39970423 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 387 (Y387C)
Ref Sequence ENSEMBL: ENSMUSP00000126439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045524] [ENSMUST00000073618] [ENSMUST00000164566] [ENSMUST00000170505] [ENSMUST00000170579]
Predicted Effect probably benign
Transcript: ENSMUST00000045524
SMART Domains Protein: ENSMUSP00000040341
Gene: ENSMUSG00000038528

DomainStartEndE-ValueType
transmembrane domain 45 64 N/A INTRINSIC
transmembrane domain 71 89 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073618
SMART Domains Protein: ENSMUSP00000073304
Gene: ENSMUSG00000038528

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 76 95 N/A INTRINSIC
transmembrane domain 102 120 N/A INTRINSIC
transmembrane domain 124 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164566
SMART Domains Protein: ENSMUSP00000130944
Gene: ENSMUSG00000038528

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 76 95 N/A INTRINSIC
transmembrane domain 99 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170505
Predicted Effect probably damaging
Transcript: ENSMUST00000170579
AA Change: Y387C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126439
Gene: ENSMUSG00000038528
AA Change: Y387C

DomainStartEndE-ValueType
Pfam:MFS_1 39 395 7.2e-15 PFAM
Pfam:TrkH 170 325 1.4e-9 PFAM
transmembrane domain 423 445 N/A INTRINSIC
Meta Mutation Damage Score 0.7539 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.0%
  • 20x: 86.3%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,570,917 K286R probably benign Het
Arhgef10l T C 4: 140,575,270 probably benign Het
Ccdc175 T G 12: 72,105,932 K733T probably damaging Het
Cenpn T G 8: 116,926,207 I39R probably damaging Het
Cfap53 A T 18: 74,300,180 Y112F possibly damaging Het
Cngb1 C A 8: 95,260,181 C361F probably damaging Het
Ctf2 T C 7: 127,719,513 T105A probably benign Het
Dnah7b A T 1: 46,325,810 T3584S probably damaging Het
Ebf3 C T 7: 137,313,167 probably benign Het
Ep300 A G 15: 81,630,064 probably benign Het
Fbxo17 T A 7: 28,733,528 V158E probably damaging Het
Fbxw24 T C 9: 109,606,998 E322G probably benign Het
Gm5698 G T 1: 30,977,285 D228E probably damaging Het
Gm884 A G 11: 103,615,383 S1920P probably benign Het
Hfm1 A T 5: 106,911,411 D248E probably benign Het
Insm2 T C 12: 55,600,496 S342P probably benign Het
Krt36 G A 11: 100,102,828 R395C probably benign Het
Lsm14b T A 2: 180,031,541 probably benign Het
Map1a A G 2: 121,300,260 E519G probably damaging Het
Mfsd14a T C 3: 116,633,894 probably benign Het
Mybpc2 T C 7: 44,505,025 N1063D possibly damaging Het
Nlrp10 T A 7: 108,925,010 H421L probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr1254 A G 2: 89,789,331 V7A possibly damaging Het
Pacrg A T 17: 10,403,339 Y235* probably null Het
Pde4dip T A 3: 97,713,196 D1629V possibly damaging Het
Prl8a2 G T 13: 27,353,952 S204I possibly damaging Het
Sec24a A T 11: 51,733,467 M356K possibly damaging Het
Sh3tc2 A C 18: 61,991,176 S972R probably damaging Het
Shc2 C T 10: 79,621,112 V557M probably damaging Het
Slc2a9 A G 5: 38,382,041 probably null Het
Tcaf1 T C 6: 42,678,678 I455V probably benign Het
Umodl1 T G 17: 31,002,798 probably benign Het
Wdr27 T C 17: 14,892,471 T658A probably damaging Het
Zfp318 T C 17: 46,409,692 Y1119H possibly damaging Het
Zfp939 C A 7: 39,473,339 noncoding transcript Het
Other mutations in Mfsd4b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Mfsd4b5 APN 10 39970727 missense probably damaging 1.00
R1138:Mfsd4b5 UTSW 10 39975154 missense probably damaging 1.00
R1668:Mfsd4b5 UTSW 10 39973691 missense probably damaging 0.98
R1718:Mfsd4b5 UTSW 10 39975203 missense probably benign 0.09
R3977:Mfsd4b5 UTSW 10 39974708 intron probably benign
R5015:Mfsd4b5 UTSW 10 39974762 missense probably benign 0.03
R5080:Mfsd4b5 UTSW 10 39970574 missense probably damaging 1.00
R5191:Mfsd4b5 UTSW 10 39970672 missense probably damaging 1.00
R6554:Mfsd4b5 UTSW 10 39986432 missense probably benign 0.19
R6706:Mfsd4b5 UTSW 10 39986417 missense probably benign 0.17
R7667:Mfsd4b5 UTSW 10 39974800 missense probably benign 0.01
R7750:Mfsd4b5 UTSW 10 39970255 missense probably damaging 1.00
Z1176:Mfsd4b5 UTSW 10 39986390 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15