Incidental Mutation 'R5843:Slc46a3'
ID 450535
Institutional Source Beutler Lab
Gene Symbol Slc46a3
Ensembl Gene ENSMUSG00000029650
Gene Name solute carrier family 46, member 3
Synonyms 1200006F02Rik
MMRRC Submission 043224-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5843 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 147815247-147831625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 147823021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 274 (I274V)
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: I274V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031655
Gene: ENSMUSG00000029650
AA Change: I274V

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: I274V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113879
Gene: ENSMUSG00000029650
AA Change: I274V

DomainStartEndE-ValueType
Pfam:MFS_1 8 400 5.5e-15 PFAM
transmembrane domain 411 433 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,537,272 (GRCm39) T93A probably damaging Het
Atp6v1h T A 1: 5,232,312 (GRCm39) probably null Het
Ccnk T C 12: 108,159,989 (GRCm39) V157A probably damaging Het
Cdh10 T C 15: 18,985,286 (GRCm39) F317L possibly damaging Het
Chn1 A G 2: 73,510,092 (GRCm39) I139T probably benign Het
Creld2 A T 15: 88,710,632 (GRCm39) D349V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Frem1 T C 4: 82,854,289 (GRCm39) D1660G probably damaging Het
Hipk3 A C 2: 104,270,569 (GRCm39) S470R possibly damaging Het
Hook2 T A 8: 85,717,912 (GRCm39) I37K probably damaging Het
Hpcal1 T C 12: 17,841,200 (GRCm39) F193L probably benign Het
Hps4 T C 5: 112,497,296 (GRCm39) probably null Het
Iqgap1 T C 7: 80,375,828 (GRCm39) N1349S probably benign Het
Khk A G 5: 31,079,275 (GRCm39) I6V possibly damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrch3 T C 16: 32,818,896 (GRCm39) V629A probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Muc13 A G 16: 33,626,421 (GRCm39) Y320C probably damaging Het
Or2aj4 T A 16: 19,385,333 (GRCm39) Q100L probably damaging Het
Or2y1b A T 11: 49,209,076 (GRCm39) R234S probably benign Het
Or5ac21 T A 16: 59,123,724 (GRCm39) D69E probably damaging Het
Parpbp A G 10: 87,969,053 (GRCm39) L131P probably damaging Het
Prl3a1 T C 13: 27,454,093 (GRCm39) W24R probably damaging Het
Ptprk T A 10: 28,369,060 (GRCm39) N677K probably damaging Het
Rbm39 A T 2: 156,004,793 (GRCm39) D181E possibly damaging Het
Ros1 T C 10: 52,042,293 (GRCm39) T220A possibly damaging Het
Tas2r104 T A 6: 131,661,938 (GRCm39) N257I probably damaging Het
Timeless A G 10: 128,080,113 (GRCm39) probably null Het
Tmem63a T C 1: 180,800,398 (GRCm39) probably null Het
Traf5 T C 1: 191,729,446 (GRCm39) D535G possibly damaging Het
Trank1 C T 9: 111,194,928 (GRCm39) S984L possibly damaging Het
Trpm6 A G 19: 18,833,539 (GRCm39) T1573A probably benign Het
Ube3b T A 5: 114,550,360 (GRCm39) I835N probably damaging Het
Wnt16 T A 6: 22,290,947 (GRCm39) I125N probably damaging Het
Xirp2 G T 2: 67,307,129 (GRCm39) probably benign Het
Zbtb47 T C 9: 121,596,405 (GRCm39) F624S possibly damaging Het
Zc3h12c G T 9: 52,027,982 (GRCm39) T460K probably benign Het
Zfp865 C A 7: 5,033,416 (GRCm39) T467K probably benign Het
Zim1 A G 7: 6,680,697 (GRCm39) V322A possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- CATCATTAGAGTGGTCCTGGTG -3'
(R):5'- TCCTCAATGATCCCATAAAGGAG -3'

Sequencing Primer
(F):5'- GTCATCCCCACCATGGTG -3'
(R):5'- AGGAGTCTTCATCTCAGATTGTGAC -3'
Posted On 2016-12-20