Incidental Mutation 'R6854:Slc66a3'
ID 535160
Institutional Source Beutler Lab
Gene Symbol Slc66a3
Ensembl Gene ENSMUSG00000045679
Gene Name solute carrier family 66 member 3
Synonyms E030024M05Rik, Pqlc3
MMRRC Submission 044957-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6854 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 17038649-17050385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17049830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 43 (L43F)
Ref Sequence ENSEMBL: ENSMUSP00000152715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054536] [ENSMUST00000095823] [ENSMUST00000134938] [ENSMUST00000137960] [ENSMUST00000156360] [ENSMUST00000222203]
AlphaFold Q8C6U2
Predicted Effect probably damaging
Transcript: ENSMUST00000054536
AA Change: L43F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054462
Gene: ENSMUSG00000045679
AA Change: L43F

DomainStartEndE-ValueType
CTNS 19 50 4.81e-2 SMART
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 92 114 N/A INTRINSIC
transmembrane domain 172 194 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095823
Predicted Effect probably benign
Transcript: ENSMUST00000134938
Predicted Effect probably benign
Transcript: ENSMUST00000137960
Predicted Effect probably damaging
Transcript: ENSMUST00000156360
AA Change: L43F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115895
Gene: ENSMUSG00000045679
AA Change: L43F

DomainStartEndE-ValueType
CTNS 19 50 4.81e-2 SMART
transmembrane domain 65 87 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000222203
AA Change: L43F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,992,599 (GRCm39) S4628P probably damaging Het
Aspm G A 1: 139,390,920 (GRCm39) R735H possibly damaging Het
Atp4a T C 7: 30,414,433 (GRCm39) V152A probably benign Het
BC035947 G A 1: 78,475,125 (GRCm39) T469I probably damaging Het
Bicra A T 7: 15,722,687 (GRCm39) S277T probably benign Het
Catsperg1 A T 7: 28,881,127 (GRCm39) N1142K possibly damaging Het
Ccnd3 T C 17: 47,889,645 (GRCm39) probably benign Het
Cdc25a A G 9: 109,708,995 (GRCm39) K79E probably damaging Het
Cfap44 A G 16: 44,269,391 (GRCm39) probably null Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Flrt3 C T 2: 140,502,638 (GRCm39) R330H probably damaging Het
Gm6034 T A 17: 36,368,110 (GRCm39) probably null Het
Hivep1 A G 13: 42,309,983 (GRCm39) E741G probably damaging Het
Iqgap3 T C 3: 88,004,258 (GRCm39) V448A probably damaging Het
Itsn2 A G 12: 4,702,382 (GRCm39) R679G probably benign Het
Klrb1c A G 6: 128,765,381 (GRCm39) S70P possibly damaging Het
Maml2 C T 9: 13,617,131 (GRCm39) T159I possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mycl G A 4: 122,894,039 (GRCm39) D280N probably damaging Het
Nlrp1b G A 11: 71,119,259 (GRCm39) T12I possibly damaging Het
Or4f14c T C 2: 111,940,992 (GRCm39) N202D probably benign Het
Or5h19 A C 16: 58,856,428 (GRCm39) I224S possibly damaging Het
Palmd A G 3: 116,717,112 (GRCm39) S462P probably benign Het
Phyhd1 A C 2: 30,159,773 (GRCm39) I36L possibly damaging Het
Plcd1 T C 9: 118,903,389 (GRCm39) probably null Het
Pml G C 9: 58,127,189 (GRCm39) A806G probably damaging Het
Ppp6r1 C A 7: 4,635,395 (GRCm39) A838S probably benign Het
Prkdc C T 16: 15,469,402 (GRCm39) T169I probably damaging Het
Prr23a1 G T 9: 98,724,988 (GRCm39) V117L possibly damaging Het
Pus7 T C 5: 23,973,845 (GRCm39) silent Het
Rdh7 T C 10: 127,724,250 (GRCm39) E78G probably benign Het
Repin1 G T 6: 48,570,825 (GRCm39) probably benign Het
Rptn A G 3: 93,305,430 (GRCm39) N921S possibly damaging Het
Sema4f A G 6: 82,894,983 (GRCm39) L404P probably damaging Het
Serinc4 T A 2: 121,287,031 (GRCm39) M2L probably benign Het
Siglecf T C 7: 43,001,604 (GRCm39) V138A probably benign Het
Speer2 T A 16: 69,655,775 (GRCm39) Q106L probably damaging Het
Sptb G A 12: 76,650,254 (GRCm39) P1821L probably damaging Het
St3gal3 C A 4: 117,815,727 (GRCm39) M107I probably benign Het
Tmem25 T C 9: 44,707,305 (GRCm39) K265E possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vsig10 G A 5: 117,476,472 (GRCm39) V309I probably benign Het
Zfp318 G GAAGAAA 17: 46,723,468 (GRCm39) probably benign Het
Other mutations in Slc66a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
pequot UTSW 12 17,043,481 (GRCm39) missense probably damaging 1.00
R0415:Slc66a3 UTSW 12 17,047,711 (GRCm39) splice site probably benign
R2165:Slc66a3 UTSW 12 17,039,840 (GRCm39) missense probably damaging 0.96
R5405:Slc66a3 UTSW 12 17,043,315 (GRCm39) intron probably benign
R5569:Slc66a3 UTSW 12 17,045,629 (GRCm39) missense possibly damaging 0.93
R6271:Slc66a3 UTSW 12 17,047,704 (GRCm39) missense probably damaging 1.00
R6378:Slc66a3 UTSW 12 17,047,644 (GRCm39) missense probably damaging 1.00
R7831:Slc66a3 UTSW 12 17,047,632 (GRCm39) splice site probably null
R8795:Slc66a3 UTSW 12 17,043,481 (GRCm39) missense probably damaging 1.00
X0066:Slc66a3 UTSW 12 17,045,626 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAGCTCAATTTTCAAACGTC -3'
(R):5'- TTTTGGACTTTGAGCCTCCG -3'

Sequencing Primer
(F):5'- CGCTGAATTTGTAAAATGGGCATGC -3'
(R):5'- GGTTCTCACCTATAAGATCCTGAAC -3'
Posted On 2018-09-12