Incidental Mutation 'R4986:Slc36a3'
ID385883
Institutional Source Beutler Lab
Gene Symbol Slc36a3
Ensembl Gene ENSMUSG00000049491
Gene Namesolute carrier family 36 (proton/amino acid symporter), member 3
SynonymsTRAMD2, tramdorin2, PAT3
MMRRC Submission 042580-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #R4986 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location55124815-55151708 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to A at 55146766 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Cysteine at position 93 (*93C)
Ref Sequence ENSEMBL: ENSMUSP00000116073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020502] [ENSMUST00000069816] [ENSMUST00000128244]
Predicted Effect probably benign
Transcript: ENSMUST00000020502
SMART Domains Protein: ENSMUSP00000020502
Gene: ENSMUSG00000049491

DomainStartEndE-ValueType
low complexity region 19 44 N/A INTRINSIC
Pfam:Aa_trans 50 459 7.2e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069816
SMART Domains Protein: ENSMUSP00000064960
Gene: ENSMUSG00000049491

DomainStartEndE-ValueType
low complexity region 19 44 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000128244
AA Change: *93C
SMART Domains Protein: ENSMUSP00000116073
Gene: ENSMUSG00000049491
AA Change: *93C

DomainStartEndE-ValueType
low complexity region 19 44 N/A INTRINSIC
Pfam:Aa_trans 50 87 2.7e-7 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.2%
Validation Efficiency 95% (41/43)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,751,654 D619E probably damaging Het
Abcc9 A T 6: 142,627,591 C1005S probably benign Het
Ccdc34 T C 2: 110,017,869 M1T probably null Het
Ceacam5 T A 7: 17,757,833 N709K possibly damaging Het
Ces2f G A 8: 104,952,025 S298N probably benign Het
Defa30 T A 8: 21,135,416 Y65* probably null Het
Dock3 A C 9: 106,931,983 C1314G probably damaging Het
Emc2 A G 15: 43,511,784 M226V probably benign Het
Fat3 T C 9: 15,998,340 Y2122C probably damaging Het
Gad1 A G 2: 70,600,693 D560G probably benign Het
Gm9944 T C 4: 144,453,190 probably benign Het
Gpr137c A T 14: 45,246,286 probably null Het
Igf2bp2 C T 16: 22,070,306 probably null Het
Igsf10 T C 3: 59,328,606 T1385A probably benign Het
Itpr2 T A 6: 146,240,342 N1734I probably damaging Het
Kbtbd6 A G 14: 79,452,609 H248R probably damaging Het
Macf1 C T 4: 123,391,121 R5650Q probably damaging Het
Mdh1 A G 11: 21,558,545 F266L possibly damaging Het
Mecom G T 3: 29,980,699 P466Q probably damaging Het
Muc20 A G 16: 32,777,635 probably benign Het
Olfr1151 T A 2: 87,857,514 L113Q probably damaging Het
Olfr1265 A T 2: 90,037,428 N170Y probably damaging Het
Osmr A G 15: 6,816,580 probably null Het
Rrs1 G A 1: 9,545,767 E82K probably damaging Het
Sacs T A 14: 61,213,043 Y4179* probably null Het
Sept11 T C 5: 93,161,241 V203A probably damaging Het
Skint9 T A 4: 112,391,713 T173S probably benign Het
Slain1 A T 14: 103,688,105 R296S probably damaging Het
Sp110 G A 1: 85,591,760 P116S probably benign Het
Srl T C 16: 4,496,782 Y332C probably benign Het
Ubtf G A 11: 102,314,174 H95Y probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,211,984 probably benign Het
Wdfy3 C T 5: 101,943,119 D532N probably benign Het
Ybx1 C T 4: 119,282,430 V123I probably damaging Het
Zfp944 A T 17: 22,339,230 H345Q probably damaging Het
Zfp993 T A 4: 146,657,557 F113I probably benign Het
Other mutations in Slc36a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03104:Slc36a3 APN 11 55125120 missense probably damaging 1.00
IGL03241:Slc36a3 APN 11 55125108 missense possibly damaging 0.95
R0632:Slc36a3 UTSW 11 55125080 missense probably damaging 1.00
R1117:Slc36a3 UTSW 11 55146180 missense possibly damaging 0.78
R1549:Slc36a3 UTSW 11 55142770 missense probably damaging 1.00
R3423:Slc36a3 UTSW 11 55142781 missense probably benign 0.00
R3425:Slc36a3 UTSW 11 55142781 missense probably benign 0.00
R3791:Slc36a3 UTSW 11 55125156 missense possibly damaging 0.95
R3980:Slc36a3 UTSW 11 55135383 missense probably benign
R4970:Slc36a3 UTSW 11 55148573 missense probably damaging 1.00
R4973:Slc36a3 UTSW 11 55146804 splice site probably benign
R5112:Slc36a3 UTSW 11 55148573 missense probably damaging 1.00
R5399:Slc36a3 UTSW 11 55146180 missense possibly damaging 0.78
R5534:Slc36a3 UTSW 11 55142769 missense possibly damaging 0.83
R5580:Slc36a3 UTSW 11 55135453 missense probably benign 0.14
R5682:Slc36a3 UTSW 11 55125663 missense probably benign 0.00
R5779:Slc36a3 UTSW 11 55135268 nonsense probably null
R5841:Slc36a3 UTSW 11 55125721 nonsense probably null
R6228:Slc36a3 UTSW 11 55124951 missense probably benign 0.01
R6483:Slc36a3 UTSW 11 55135263 missense probably benign 0.01
R6908:Slc36a3 UTSW 11 55149886 intron probably benign
R6927:Slc36a3 UTSW 11 55129693 missense probably damaging 0.98
R7828:Slc36a3 UTSW 11 55151198 missense probably benign 0.00
R7995:Slc36a3 UTSW 11 55129669 missense probably benign 0.04
R8212:Slc36a3 UTSW 11 55125081 missense probably damaging 1.00
R8238:Slc36a3 UTSW 11 55131607 missense probably benign 0.05
R8239:Slc36a3 UTSW 11 55131607 missense probably benign 0.05
R8329:Slc36a3 UTSW 11 55148583 missense probably damaging 1.00
Z1177:Slc36a3 UTSW 11 55135452 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GTCTGGACACTAGGGCTCTTAG -3'
(R):5'- TCAGAGAAGGCCACTGCATC -3'

Sequencing Primer
(F):5'- TAATGCCAGCACTTAGGCTG -3'
(R):5'- ACTTTGGTCTTTAAGGATCTTAGGAG -3'
Posted On2016-05-10