Incidental Mutation 'R9707:Slc46a3'
ID 729843
Institutional Source Beutler Lab
Gene Symbol Slc46a3
Ensembl Gene ENSMUSG00000029650
Gene Name solute carrier family 46, member 3
Synonyms 1200006F02Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9707 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 147815247-147831625 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 147821022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 377 (H377N)
Ref Sequence ENSEMBL: ENSMUSP00000031655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031655] [ENSMUST00000118527]
AlphaFold Q9DC26
Predicted Effect probably benign
Transcript: ENSMUST00000031655
AA Change: H377N

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031655
Gene: ENSMUSG00000029650
AA Change: H377N

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: H377N

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113879
Gene: ENSMUSG00000029650
AA Change: H377N

DomainStartEndE-ValueType
Pfam:MFS_1 8 400 5.5e-15 PFAM
transmembrane domain 411 433 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 G A 2: 91,640,476 (GRCm39) R635H probably damaging Het
Amz1 T C 5: 140,733,949 (GRCm39) V175A possibly damaging Het
Arsj T C 3: 126,232,160 (GRCm39) I302T possibly damaging Het
Asxl3 A G 18: 22,656,304 (GRCm39) E1438G probably benign Het
BC016579 C T 16: 45,460,760 (GRCm39) E103K probably damaging Het
Ccdc54 T A 16: 50,411,163 (GRCm39) K34N possibly damaging Het
Chac2 T C 11: 30,929,572 (GRCm39) D55G possibly damaging Het
Cts3 T A 13: 61,714,649 (GRCm39) I219F possibly damaging Het
Des A G 1: 75,337,533 (GRCm39) M158V possibly damaging Het
Dohh T C 10: 81,223,565 (GRCm39) F206S probably damaging Het
Dst T C 1: 34,228,934 (GRCm39) S2176P probably benign Het
Ecpas C T 4: 58,824,816 (GRCm39) probably null Het
Epb41l2 G A 10: 25,378,235 (GRCm39) V836M probably damaging Het
Foxc1 A T 13: 31,991,882 (GRCm39) E231V probably damaging Het
Ighd T A 12: 113,378,108 (GRCm39) N164Y Het
Ighv1-53 A T 12: 115,122,035 (GRCm39) Y113* probably null Het
Ildr1 A G 16: 36,529,892 (GRCm39) D93G probably damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Lrp1 T C 10: 127,408,414 (GRCm39) E1754G probably benign Het
Mbd4 T A 6: 115,826,559 (GRCm39) H144L probably benign Het
Mcm7 C A 5: 138,170,000 (GRCm39) A7S probably benign Het
Mmp9 T A 2: 164,794,605 (GRCm39) N532K possibly damaging Het
Msr1 T G 8: 40,076,988 (GRCm39) E207D probably benign Het
Neurl4 A T 11: 69,799,679 (GRCm39) D994V probably damaging Het
Or1e35 A G 11: 73,798,090 (GRCm39) V76A possibly damaging Het
Or6c69b T C 10: 129,627,444 (GRCm39) T5A probably damaging Het
Or8s5 C T 15: 98,238,154 (GRCm39) V239I probably benign Het
Pcdhgb6 T C 18: 37,876,768 (GRCm39) I492T possibly damaging Het
Pde4c A G 8: 71,202,701 (GRCm39) D669G probably benign Het
Phf3 C A 1: 30,868,923 (GRCm39) probably null Het
Ptpn12 T A 5: 21,207,620 (GRCm39) T279S probably damaging Het
Rbbp6 A T 7: 122,589,061 (GRCm39) T287S probably damaging Het
Slc22a21 T C 11: 53,851,186 (GRCm39) N192S probably benign Het
Smg9 G T 7: 24,102,869 (GRCm39) R16L probably damaging Het
Spmip2 A G 3: 79,313,167 (GRCm39) I80M probably damaging Het
Synj1 A G 16: 90,758,300 (GRCm39) V848A possibly damaging Het
Taf7 A T 18: 37,776,053 (GRCm39) S171R probably damaging Het
Trav7-3 A G 14: 53,681,189 (GRCm39) E77G probably benign Het
Usp16 T C 16: 87,263,235 (GRCm39) S146P probably benign Het
Vmn1r22 A T 6: 57,877,890 (GRCm39) I29K probably benign Het
Zfp236 A G 18: 82,664,328 (GRCm39) C486R probably damaging Het
Zfp329 T C 7: 12,544,129 (GRCm39) Q465R probably benign 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
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
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'- TTCCTTCTTCTGGCTGAGACAAG -3'
(R):5'- TGCAGTCAGCTGGATCTTCAG -3'

Sequencing Primer
(F):5'- TTCTGGCTGAGACAAGGCCAG -3'
(R):5'- ATCTTCAGCCGCAGTGAGTCAG -3'
Posted On 2022-10-06