Incidental Mutation 'IGL02821:Slc46a3'
ID 361022
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 # IGL02821
Quality Score
Status
Chromosome 5
Chromosomal Location 147815247-147831625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 147822822 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9DC26
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
4930474N05Rik T C 14: 35,818,473 (GRCm39) L157S probably benign Het
Adam15 A G 3: 89,252,663 (GRCm39) S309P probably damaging Het
Agtpbp1 A T 13: 59,630,415 (GRCm39) M772K possibly damaging Het
Ankfn1 T C 11: 89,282,442 (GRCm39) M402V probably benign Het
Anln G A 9: 22,269,418 (GRCm39) T822I possibly damaging Het
Atp13a4 A G 16: 29,260,125 (GRCm39) V589A probably benign Het
Ccm2l C T 2: 152,909,779 (GRCm39) L44F probably damaging Het
Cd177 A T 7: 24,443,818 (GRCm39) L760Q probably damaging Het
Cd177 G T 7: 24,443,819 (GRCm39) L760M probably damaging Het
Cfap69 T C 5: 5,714,017 (GRCm39) E5G probably benign Het
Col4a1 G A 8: 11,271,375 (GRCm39) T753I probably benign Het
Col6a3 T A 1: 90,731,600 (GRCm39) D1551V probably damaging Het
Ddx20 A G 3: 105,586,593 (GRCm39) V584A probably benign Het
Dop1a C A 9: 86,402,209 (GRCm39) H1136Q probably benign Het
Egf T C 3: 129,496,128 (GRCm39) E329G probably damaging Het
Eif3c A G 7: 126,157,831 (GRCm39) V337A probably benign Het
Eif3f G T 7: 108,533,881 (GRCm39) probably benign Het
Eif3f C T 7: 108,533,882 (GRCm39) probably benign Het
Evc T A 5: 37,483,740 (GRCm39) I187F probably benign Het
Fam117a T G 11: 95,254,815 (GRCm39) probably benign Het
H2-M10.4 A T 17: 36,771,323 (GRCm39) V285E probably damaging Het
Hps4 G T 5: 112,523,307 (GRCm39) M608I probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Itgam A T 7: 127,675,281 (GRCm39) M169L probably damaging Het
Kcnn3 G A 3: 89,570,029 (GRCm39) G614D possibly damaging Het
Kcnn3 A G 3: 89,428,281 (GRCm39) N169S possibly damaging Het
Mn1 A T 5: 111,569,717 (GRCm39) K1229M probably damaging Het
Ms4a19 A G 19: 11,118,897 (GRCm39) *71Q probably null Het
Nckap5 A G 1: 125,955,553 (GRCm39) M401T probably damaging Het
Or1af1 T C 2: 37,110,112 (GRCm39) S204P probably damaging Het
Or8c13 T C 9: 38,091,964 (GRCm39) N52D possibly damaging Het
Or8d4 T G 9: 40,038,561 (GRCm39) E232A probably benign Het
Pttg1ip2 G A 5: 5,502,039 (GRCm39) Q138* probably null Het
Sim2 G A 16: 93,898,047 (GRCm39) V94M probably damaging Het
Ssc4d A G 5: 135,994,923 (GRCm39) probably benign Het
Trav12-1 A G 14: 53,775,916 (GRCm39) D22G probably damaging Het
Trgv4 T A 13: 19,369,422 (GRCm39) D55E possibly damaging Het
Trps1 G A 15: 50,524,273 (GRCm39) T969M probably damaging Het
Ttn T A 2: 76,719,894 (GRCm39) probably benign Het
Ubqln4 A G 3: 88,470,458 (GRCm39) N310S probably benign Het
Vapa T C 17: 65,889,756 (GRCm39) probably benign Het
Vmn1r65 T C 7: 6,011,893 (GRCm39) T114A possibly damaging Het
Vps13d T C 4: 144,875,332 (GRCm39) E1725G probably damaging Het
Vps53 A G 11: 76,027,143 (GRCm39) probably benign Het
Xkr9 T C 1: 13,742,799 (GRCm39) L28P probably damaging Het
Other mutations in Slc46a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Slc46a3 APN 5 147,823,108 (GRCm39) missense probably benign 0.00
IGL02158:Slc46a3 APN 5 147,823,044 (GRCm39) missense probably damaging 1.00
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 2015-12-18