Incidental Mutation 'IGL02903:Mfsd4b3'
ID363685
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: 0.095) question?
Stock #IGL02903
Quality Score
Status
Chromosome10
Chromosomal Location39946907-39960153 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 39947643 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 207 (E207V)
Ref Sequence ENSEMBL: ENSMUSP00000093420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095749]
Predicted Effect possibly damaging
Transcript: ENSMUST00000095749
AA Change: E207V

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093420
Gene: ENSMUSG00000071335
AA Change: E207V

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
4931417E11Rik A G 6: 73,469,120 Y149H probably damaging Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
C4bp G A 1: 130,655,985 T82I probably damaging Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cmtr2 A G 8: 110,222,878 T607A probably benign Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dmrtc1b T A X: 102,713,567 L206Q probably benign Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcmf1 A T 6: 72,858,883 V21E possibly damaging Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Lemd2 A G 17: 27,193,210 probably benign Het
Magee1 G T X: 105,123,339 R910L probably damaging Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Rsbn1 T C 3: 103,928,569 S308P probably damaging Het
Smr2 A T 5: 88,108,630 I56F probably benign Het
Wdfy4 C T 14: 33,109,650 R873H probably damaging Het
Other mutations in Mfsd4b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Mfsd4b3 APN 10 39948072 missense probably benign 0.30
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 On2015-12-18