Incidental Mutation 'R6271:Slc66a3'
ID 507351
Institutional Source Beutler Lab
Gene Symbol Slc66a3
Ensembl Gene ENSMUSG00000045679
Gene Name solute carrier family 66 member 3
Synonyms E030024M05Rik, Pqlc3
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 17038649-17050385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17047704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 76 (D76G)
Ref Sequence ENSEMBL: ENSMUSP00000115895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054536] [ENSMUST00000134938] [ENSMUST00000137960] [ENSMUST00000156360] [ENSMUST00000222203]
AlphaFold Q8C6U2
Predicted Effect probably benign
Transcript: ENSMUST00000054536
AA Change: D76G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000054462
Gene: ENSMUSG00000045679
AA Change: D76G

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 noncoding transcript
Transcript: ENSMUST00000067572
SMART Domains Protein: ENSMUSP00000065014
Gene: ENSMUSG00000045679

DomainStartEndE-ValueType
CTNS 19 50 4.81e-2 SMART
transmembrane domain 66 88 N/A INTRINSIC
transmembrane domain 92 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134938
Predicted Effect probably benign
Transcript: ENSMUST00000137960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141232
Predicted Effect probably damaging
Transcript: ENSMUST00000156360
AA Change: D76G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115895
Gene: ENSMUSG00000045679
AA Change: D76G

DomainStartEndE-ValueType
CTNS 19 50 4.81e-2 SMART
transmembrane domain 65 87 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000222203
AA Change: D76G

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A 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
R6378:Slc66a3 UTSW 12 17,047,644 (GRCm39) missense probably damaging 1.00
R6854:Slc66a3 UTSW 12 17,049,830 (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'- TTCTCCATGCTGAGGACAGAATC -3'
(R):5'- TGGGTAAATATGCCAGTGTCTG -3'

Sequencing Primer
(F):5'- GAATCCAGAGCCTCTGTATGC -3'
(R):5'- GGCTGTGAATATATGCATCTCTCTGC -3'
Posted On 2018-03-15