Incidental Mutation 'IGL01957:Mfsd14b'
ID181126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfsd14b
Ensembl Gene ENSMUSG00000038212
Gene Namemajor facilitator superfamily domain containing 14B
Synonyms5730414C17Rik, Hiatl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL01957
Quality Score
Status
Chromosome13
Chromosomal Location65064663-65112975 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 65087093 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 90 (V90G)
Ref Sequence ENSEMBL: ENSMUSP00000118180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054730] [ENSMUST00000155487]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054730
AA Change: V90G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: V90G

DomainStartEndE-ValueType
Pfam:MFS_1 50 396 4.5e-33 PFAM
transmembrane domain 428 450 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155487
AA Change: V90G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: V90G

DomainStartEndE-ValueType
Pfam:MFS_1 50 396 4.6e-33 PFAM
transmembrane domain 428 450 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik C T 1: 26,685,259 C280Y probably damaging Het
6030469F06Rik T C 12: 31,185,043 noncoding transcript Het
Cops3 A G 11: 59,821,391 probably benign Het
Cyth2 A T 7: 45,808,381 Y304N probably benign Het
Dhx8 A G 11: 101,754,826 N837S possibly damaging Het
Evpl A G 11: 116,223,222 L1214P probably damaging Het
Gm94 A G 18: 43,784,681 S40P probably damaging Het
Gpm6a A T 8: 55,050,177 M154L probably benign Het
Ipo13 A G 4: 117,903,881 S547P probably damaging Het
Mfsd4b4 A T 10: 39,892,029 M356K probably damaging Het
Msh6 T G 17: 87,985,091 F425V possibly damaging Het
Olfr553 A T 7: 102,614,339 L217I probably damaging Het
Olfr726 T C 14: 50,084,280 T134A probably benign Het
Olfr811 A G 10: 129,802,250 Y92H probably damaging Het
Ptk2 T C 15: 73,242,473 I679V probably benign Het
Rtel1 T C 2: 181,349,313 probably benign Het
Sema3d T A 5: 12,563,315 V453E probably damaging Het
Syk C A 13: 52,631,740 D327E probably benign Het
Triobp G A 15: 78,972,647 probably null Het
Tubgcp5 G A 7: 55,818,757 E667K probably damaging Het
Vmn2r76 G T 7: 86,228,717 H491N probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Mfsd14b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Mfsd14b APN 13 65066701 missense probably benign 0.00
IGL01935:Mfsd14b APN 13 65067925 missense probably benign
R0555:Mfsd14b UTSW 13 65078445 missense probably benign 0.34
R0601:Mfsd14b UTSW 13 65087150 missense possibly damaging 0.88
R0988:Mfsd14b UTSW 13 65112493 splice site probably benign
R1136:Mfsd14b UTSW 13 65095692 missense probably benign 0.22
R1494:Mfsd14b UTSW 13 65095671 missense probably damaging 1.00
R2087:Mfsd14b UTSW 13 65067982 missense probably damaging 1.00
R4223:Mfsd14b UTSW 13 65066608 utr 3 prime probably benign
R5103:Mfsd14b UTSW 13 65087093 missense possibly damaging 0.56
R5568:Mfsd14b UTSW 13 65072122 splice site probably null
R5603:Mfsd14b UTSW 13 65073606 missense probably benign 0.00
R6181:Mfsd14b UTSW 13 65112584 missense probably benign 0.00
R6330:Mfsd14b UTSW 13 65095686 missense probably damaging 1.00
R6649:Mfsd14b UTSW 13 65066785 missense probably damaging 1.00
R7460:Mfsd14b UTSW 13 65072023 missense probably damaging 1.00
R7605:Mfsd14b UTSW 13 65066777 missense probably benign
X0017:Mfsd14b UTSW 13 65072053 missense probably benign 0.08
X0027:Mfsd14b UTSW 13 65072011 missense probably benign 0.16
X0063:Mfsd14b UTSW 13 65078485 splice site probably null
Posted On2014-05-07