Incidental Mutation 'IGL01701:Slc46a3'
ID 104479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc46a3
Ensembl Gene ENSMUSG00000029650
Gene Name solute carrier family 46, member 3
Synonyms 1200006F02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01701
Quality Score
Status
Chromosome 5
Chromosomal Location 147815247-147831625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 147823108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 245 (T245A)
Ref Sequence ENSEMBL: ENSMUSP00000113879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031655] [ENSMUST00000118527]
AlphaFold Q9DC26
Predicted Effect probably benign
Transcript: ENSMUST00000031655
AA Change: T245A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000031655
Gene: ENSMUSG00000029650
AA Change: T245A

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: T245A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000113879
Gene: ENSMUSG00000029650
AA Change: T245A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,254,776 (GRCm39) Y36H possibly damaging Het
Adgrv1 T C 13: 81,567,750 (GRCm39) D5141G possibly damaging Het
Adk G A 14: 21,153,922 (GRCm39) E42K probably damaging Het
Akap1 C A 11: 88,735,958 (GRCm39) V268L probably benign Het
Arl6ip5 A G 6: 97,187,774 (GRCm39) probably benign Het
Atrx A G X: 104,874,526 (GRCm39) S1945P probably damaging Het
Clec5a G A 6: 40,559,160 (GRCm39) probably benign Het
Cplane1 T C 15: 8,232,741 (GRCm39) probably benign Het
Cul3 G T 1: 80,255,140 (GRCm39) H6Q probably damaging Het
Fn1 T C 1: 71,669,012 (GRCm39) probably benign Het
Furin C A 7: 80,042,240 (GRCm39) V452F probably benign Het
Furin T A 7: 80,040,507 (GRCm39) D777V probably benign Het
Gm57859 T C 11: 113,579,927 (GRCm39) F441L probably benign Het
Hmgb4 G A 4: 128,154,166 (GRCm39) T134I probably benign Het
Ift74 A T 4: 94,550,895 (GRCm39) E349V possibly damaging Het
Igkv6-23 A T 6: 70,237,880 (GRCm39) L13Q probably damaging Het
Lekr1 A T 3: 65,591,425 (GRCm39) Y54F probably damaging Het
Lman1 A T 18: 66,127,921 (GRCm39) V241E possibly damaging Het
Mat1a T A 14: 40,836,772 (GRCm39) D167E probably benign Het
Myl6 G A 10: 128,327,966 (GRCm39) A130V probably damaging Het
Myo9a T C 9: 59,791,877 (GRCm39) probably null Het
Nlrp4f A T 13: 65,347,223 (GRCm39) W12R probably damaging Het
Nr1h4 T C 10: 89,314,669 (GRCm39) R276G probably benign Het
Or4f61 T C 2: 111,922,851 (GRCm39) N65S possibly damaging Het
Or5m13b C A 2: 85,754,421 (GRCm39) Q270K possibly damaging Het
Pag1 C T 3: 9,758,886 (GRCm39) E411K probably damaging Het
Prorp T G 12: 55,355,660 (GRCm39) probably benign Het
Rttn A G 18: 89,082,339 (GRCm39) N1422D probably damaging Het
Ryr1 C T 7: 28,759,235 (GRCm39) R3345Q probably damaging Het
Slc12a8 T C 16: 33,361,280 (GRCm39) L85P probably damaging Het
Slc22a17 T C 14: 55,144,718 (GRCm39) H565R probably damaging Het
Thsd7b A G 1: 129,358,665 (GRCm39) H33R probably benign Het
Tmem131 A G 1: 36,847,318 (GRCm39) V1260A probably benign Het
Tmem30a A T 9: 79,681,461 (GRCm39) F236Y probably damaging Het
Trim30b A C 7: 104,015,258 (GRCm39) Y43* probably null Het
Trpc3 T C 3: 36,725,743 (GRCm39) K78E possibly damaging Het
Twist2 A T 1: 91,729,736 (GRCm39) M130L probably benign Het
Ube2q2l T A 6: 136,377,804 (GRCm39) Y342F probably damaging Het
Other mutations in Slc46a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02158:Slc46a3 APN 5 147,823,044 (GRCm39) missense probably damaging 1.00
IGL02821:Slc46a3 APN 5 147,822,822 (GRCm39) missense probably benign 0.00
R1990:Slc46a3 UTSW 5 147,823,404 (GRCm39) missense probably damaging 1.00
R2125:Slc46a3 UTSW 5 147,815,954 (GRCm39) missense probably benign 0.05
R3904:Slc46a3 UTSW 5 147,823,264 (GRCm39) missense probably benign 0.21
R4619:Slc46a3 UTSW 5 147,823,540 (GRCm39) nonsense probably null
R5151:Slc46a3 UTSW 5 147,823,566 (GRCm39) missense probably damaging 1.00
R5740:Slc46a3 UTSW 5 147,816,643 (GRCm39) nonsense probably null
R5843:Slc46a3 UTSW 5 147,823,021 (GRCm39) missense probably benign
R5933:Slc46a3 UTSW 5 147,830,700 (GRCm39) missense probably benign 0.03
R6453:Slc46a3 UTSW 5 147,823,200 (GRCm39) missense possibly damaging 0.89
R6852:Slc46a3 UTSW 5 147,822,970 (GRCm39) missense probably damaging 1.00
R6954:Slc46a3 UTSW 5 147,823,150 (GRCm39) missense probably benign 0.01
R8478:Slc46a3 UTSW 5 147,815,963 (GRCm39) missense probably benign 0.02
R9707:Slc46a3 UTSW 5 147,821,022 (GRCm39) missense probably benign 0.21
R9759:Slc46a3 UTSW 5 147,823,234 (GRCm39) missense probably benign
Z1177:Slc46a3 UTSW 5 147,823,420 (GRCm39) missense possibly damaging 0.95
Posted On 2014-01-21