Incidental Mutation 'R6908:Slc36a3'
ID 538876
Institutional Source Beutler Lab
Gene Symbol Slc36a3
Ensembl Gene ENSMUSG00000049491
Gene Name solute carrier family 36 (proton/amino acid symporter), member 3
Synonyms TRAMD2, tramdorin2, PAT3
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6908 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 55124815-55151708 bp(-) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) T to C at 55149886 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020502] [ENSMUST00000069816] [ENSMUST00000128244]
AlphaFold Q811P0
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 unknown
Transcript: ENSMUST00000069816
AA Change: N74D
SMART Domains Protein: ENSMUSP00000064960
Gene: ENSMUSG00000049491
AA Change: N74D

DomainStartEndE-ValueType
low complexity region 19 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128244
SMART Domains Protein: ENSMUSP00000116073
Gene: ENSMUSG00000049491

DomainStartEndE-ValueType
low complexity region 19 44 N/A INTRINSIC
Pfam:Aa_trans 50 87 2.7e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,657,305 I1197T probably benign Het
Atp2a1 A G 7: 126,448,535 probably null Het
B3glct T C 5: 149,696,476 probably null Het
Bbs9 T G 9: 22,567,723 I154S probably damaging Het
Brip1 T C 11: 86,077,884 Y825C probably damaging Het
Ccdc186 A T 19: 56,791,939 probably null Het
Celf6 T C 9: 59,603,823 V349A probably benign Het
Chd9 A G 8: 90,956,416 T495A probably benign Het
Cxxc1 G A 18: 74,220,559 C546Y probably damaging Het
Cxxc5 T C 18: 35,859,215 V223A probably damaging Het
Dlc1 A G 8: 36,937,687 F316S probably benign Het
Dnajc12 C A 10: 63,397,325 Q82K probably benign Het
Dock8 G A 19: 25,188,382 E1877K probably damaging Het
Epha3 T G 16: 63,598,249 H611P probably damaging Het
Fpr-rs6 C A 17: 20,182,439 C220F probably damaging Het
Fryl A G 5: 73,022,211 L2951P probably damaging Het
Gbp10 T G 5: 105,221,032 T314P probably damaging Het
Hbb-bs T C 7: 103,827,534 N77D probably benign Het
Ints13 A T 6: 146,555,033 D438E probably damaging Het
Itgb6 C T 2: 60,650,021 V324M probably benign Het
Kdm7a G T 6: 39,144,439 L861M possibly damaging Het
Kirrel3 A G 9: 35,013,401 T302A possibly damaging Het
Lama2 A T 10: 27,031,196 probably null Het
Lrp2 A T 2: 69,472,365 C3007S probably damaging Het
Lypd3 G C 7: 24,638,433 G75R probably damaging Het
Mastl T C 2: 23,155,976 probably benign Het
Mcf2l T C 8: 13,018,919 V1087A probably benign Het
Mcmdc2 C A 1: 9,930,778 probably null Het
Ms4a3 A G 19: 11,638,295 I39T probably damaging Het
Mylk T G 16: 34,880,273 C495G probably benign Het
Myo10 A G 15: 25,804,383 D1588G probably damaging Het
Myo15 A T 11: 60,506,006 T2634S probably damaging Het
Nlrp1b T C 11: 71,217,296 I460V probably benign Het
Nmt1 T G 11: 103,058,254 S312A possibly damaging Het
Nynrin T G 14: 55,863,878 S335A probably benign Het
Olfr710 T C 7: 106,944,632 Y123C possibly damaging Het
Paxip1 T C 5: 27,791,224 Y19C possibly damaging Het
Pcdhb2 G T 18: 37,296,524 A517S probably damaging Het
Pkd2l1 A G 19: 44,152,446 I559T probably damaging Het
Plec G A 15: 76,185,881 Q806* probably null Het
Prss51 C T 14: 64,096,152 A70V probably benign Het
Psd3 A T 8: 67,964,177 I356K probably benign Het
Ptprn2 A T 12: 116,888,888 I522F probably benign Het
Rab39 T C 9: 53,706,069 D16G probably damaging Het
Ralgps1 T C 2: 33,143,100 Q439R probably benign Het
Rapgef2 A T 3: 79,104,063 D238E probably benign Het
Ripor2 G A 13: 24,706,232 G697S probably damaging Het
Scn11a A T 9: 119,792,426 F642I probably damaging Het
Serinc4 G A 2: 121,453,605 T310I probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 127,021,626 probably benign Het
Smc1b A G 15: 85,107,010 S656P probably damaging Het
Sorbs1 A G 19: 40,352,332 S455P probably damaging Het
Ttn C A 2: 76,889,858 probably benign Het
Tyw5 T C 1: 57,401,523 R27G probably damaging Het
Vmn1r209 T C 13: 22,806,230 T97A possibly damaging 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
R4986:Slc36a3 UTSW 11 55146766 makesense probably null
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
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
R8929:Slc36a3 UTSW 11 55137311 missense probably damaging 1.00
R9034:Slc36a3 UTSW 11 55125689 missense probably damaging 0.99
R9489:Slc36a3 UTSW 11 55149900 missense unknown
R9506:Slc36a3 UTSW 11 55148631 missense probably benign 0.14
R9661:Slc36a3 UTSW 11 55125158 missense probably benign 0.00
R9696:Slc36a3 UTSW 11 55135335 missense possibly damaging 0.52
R9735:Slc36a3 UTSW 11 55135278 missense probably damaging 1.00
Z1177:Slc36a3 UTSW 11 55135452 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGCTCAGAGAGTGCTAGGTG -3'
(R):5'- TACCCAAGATGCAATGGTTTCC -3'

Sequencing Primer
(F):5'- TGCCAGGGTTCCGAGTCTTC -3'
(R):5'- CCATAATGCCTCATTGTTTCCAGAAG -3'
Posted On 2018-11-06