Incidental Mutation 'IGL02821:Slc46a3'
ID361022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc46a3
Ensembl Gene ENSMUSG00000029650
Gene Namesolute carrier family 46, member 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02821
Quality Score
Status
Chromosome5
Chromosomal Location147878437-147894815 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 147886012 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 340 (T340M)
Ref Sequence ENSEMBL: ENSMUSP00000113879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031655] [ENSMUST00000118527]
Predicted Effect probably benign
Transcript: ENSMUST00000031655
AA Change: T340M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000031655
Gene: ENSMUSG00000029650
AA Change: T340M

DomainStartEndE-ValueType
Pfam:MFS_1 8 400 4.3e-15 PFAM
transmembrane domain 411 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118527
AA Change: T340M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113879
Gene: ENSMUSG00000029650
AA Change: T340M

DomainStartEndE-ValueType
Pfam:MFS_1 8 400 5.5e-15 PFAM
transmembrane domain 411 433 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytoplasm. This protein has been shown to be an effective transporter of the cytotoxic drug maytansine, which is used in antibody-based targeting of cancer cells. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik G A 5: 5,452,039 Q138* probably null Het
1700025F22Rik A G 19: 11,141,533 *71Q probably null Het
4930474N05Rik T C 14: 36,096,516 L157S probably benign Het
Adam15 A G 3: 89,345,356 S309P probably damaging Het
Agtpbp1 A T 13: 59,482,601 M772K possibly damaging Het
Ankfn1 T C 11: 89,391,616 M402V probably benign Het
Anln G A 9: 22,358,122 T822I possibly damaging Het
Atp13a4 A G 16: 29,441,307 V589A probably benign Het
Ccm2l C T 2: 153,067,859 L44F probably damaging Het
Cd177 G T 7: 24,744,394 L760M probably damaging Het
Cd177 A T 7: 24,744,393 L760Q probably damaging Het
Cfap69 T C 5: 5,664,017 E5G probably benign Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Col6a3 T A 1: 90,803,878 D1551V probably damaging Het
Ddx20 A G 3: 105,679,277 V584A probably benign Het
Dopey1 C A 9: 86,520,156 H1136Q probably benign Het
Egf T C 3: 129,702,479 E329G probably damaging Het
Eif3c A G 7: 126,558,659 V337A probably benign Het
Eif3f G T 7: 108,934,674 probably benign Het
Eif3f C T 7: 108,934,675 probably benign Het
Evc T A 5: 37,326,396 I187F probably benign Het
Fam117a T G 11: 95,363,989 probably benign Het
H2-M10.4 A T 17: 36,460,431 V285E probably damaging Het
Hps4 G T 5: 112,375,441 M608I probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Itgam A T 7: 128,076,109 M169L probably damaging Het
Kcnn3 G A 3: 89,662,722 G614D possibly damaging Het
Kcnn3 A G 3: 89,520,974 N169S possibly damaging Het
Mn1 A T 5: 111,421,851 K1229M probably damaging Het
Nckap5 A G 1: 126,027,816 M401T probably damaging Het
Olfr366 T C 2: 37,220,100 S204P probably damaging Het
Olfr891 T C 9: 38,180,668 N52D possibly damaging Het
Olfr985 T G 9: 40,127,265 E232A probably benign Het
Sim2 G A 16: 94,097,188 V94M probably damaging Het
Ssc4d A G 5: 135,966,069 probably benign Het
Tcrg-V4 T A 13: 19,185,252 D55E possibly damaging Het
Trav12-1 A G 14: 53,538,459 D22G probably damaging Het
Trps1 G A 15: 50,660,877 T969M probably damaging Het
Ttn T A 2: 76,889,550 probably benign Het
Ubqln4 A G 3: 88,563,151 N310S probably benign Het
Vapa T C 17: 65,582,761 probably benign Het
Vmn1r65 T C 7: 6,008,894 T114A possibly damaging Het
Vps13d T C 4: 145,148,762 E1725G probably damaging Het
Vps53 A G 11: 76,136,317 probably benign Het
Xkr9 T C 1: 13,672,575 L28P probably damaging Het
Other mutations in Slc46a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Slc46a3 APN 5 147886298 missense probably benign 0.00
IGL02158:Slc46a3 APN 5 147886234 missense probably damaging 1.00
R1990:Slc46a3 UTSW 5 147886594 missense probably damaging 1.00
R2125:Slc46a3 UTSW 5 147879144 missense probably benign 0.05
R3904:Slc46a3 UTSW 5 147886454 missense probably benign 0.21
R4619:Slc46a3 UTSW 5 147886730 nonsense probably null
R5151:Slc46a3 UTSW 5 147886756 missense probably damaging 1.00
R5740:Slc46a3 UTSW 5 147879833 nonsense probably null
R5843:Slc46a3 UTSW 5 147886211 missense probably benign
R5933:Slc46a3 UTSW 5 147893890 missense probably benign 0.03
R6453:Slc46a3 UTSW 5 147886390 missense possibly damaging 0.89
R6852:Slc46a3 UTSW 5 147886160 missense probably damaging 1.00
R6954:Slc46a3 UTSW 5 147886340 missense probably benign 0.01
Z1177:Slc46a3 UTSW 5 147886610 missense possibly damaging 0.95
Posted On2015-12-18