Incidental Mutation 'R9112:Slc38a9'
ID 692328
Institutional Source Beutler Lab
Gene Symbol Slc38a9
Ensembl Gene ENSMUSG00000047789
Gene Name solute carrier family 38, member 9
Synonyms 9430067K09Rik, 9130023D20Rik, 4833412L08Rik, 6720411P22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R9112 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 112797285-112875283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112850777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 387 (N387I)
Ref Sequence ENSEMBL: ENSMUSP00000052172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052514]
AlphaFold Q8BGD6
Predicted Effect probably damaging
Transcript: ENSMUST00000052514
AA Change: N387I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052172
Gene: ENSMUSG00000047789
AA Change: N387I

DomainStartEndE-ValueType
Pfam:Aa_trans 114 253 4.5e-17 PFAM
Pfam:Aa_trans 266 560 2.5e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,100,806 (GRCm39) S181G possibly damaging Het
5730596B20Rik A G 6: 52,156,413 (GRCm39) R160G unknown Het
Acy1 A G 9: 106,311,952 (GRCm39) Y262H probably benign Het
Adamts13 T C 2: 26,880,379 (GRCm39) S681P possibly damaging Het
Adgra3 C A 5: 50,118,395 (GRCm39) C1051F probably damaging Het
Afp T C 5: 90,652,289 (GRCm39) probably null Het
Agrn A T 4: 156,261,514 (GRCm39) V568E probably damaging Het
Ahnak A G 19: 8,987,149 (GRCm39) E2811G probably damaging Het
Ap1m1 C A 8: 72,994,066 (GRCm39) Y7* probably null Het
Apobec1 T A 6: 122,555,837 (GRCm39) T207S probably benign Het
Arhgap32 G A 9: 32,157,309 (GRCm39) R102Q probably damaging Het
Bcat2 T C 7: 45,237,446 (GRCm39) probably null Het
Cd209f T A 8: 4,155,802 (GRCm39) probably benign Het
Cox7c G A 13: 86,194,837 (GRCm39) probably benign Het
Cyp2d11 A G 15: 82,276,203 (GRCm39) V156A possibly damaging Het
Dhrs3 A T 4: 144,653,769 (GRCm39) T297S probably benign Het
Dip2c T C 13: 9,660,766 (GRCm39) C876R probably damaging Het
Eprs1 A T 1: 185,129,273 (GRCm39) I587F probably damaging Het
Fam13c A G 10: 70,286,978 (GRCm39) T81A probably benign Het
Flt4 A G 11: 49,524,064 (GRCm39) Y548C probably damaging Het
Garin2 T C 12: 78,757,202 (GRCm39) probably null Het
Gimap4 T A 6: 48,667,629 (GRCm39) V128E probably benign Het
Gm32742 A G 9: 51,060,735 (GRCm39) L856P possibly damaging Het
Gm5916 A G 9: 36,032,258 (GRCm39) Y59H probably damaging Het
Gnai3 A T 3: 108,030,990 (GRCm39) H57Q Het
Golga3 G T 5: 110,333,757 (GRCm39) R131L probably benign Het
Gpc6 A T 14: 117,424,088 (GRCm39) I59F probably benign Het
H2bc6 T C 13: 23,769,753 (GRCm39) M63V possibly damaging Het
Herc6 T C 6: 57,596,604 (GRCm39) S515P probably damaging Het
Ift74 T C 4: 94,575,103 (GRCm39) I518T probably benign Het
Kat6b T C 14: 21,675,256 (GRCm39) S474P possibly damaging Het
Klhl3 A C 13: 58,248,212 (GRCm39) I28S unknown Het
Klrh1 T A 6: 129,743,697 (GRCm39) I196F probably benign Het
Lipi A G 16: 75,359,159 (GRCm39) F259S probably damaging Het
Lrrc8a T A 2: 30,145,782 (GRCm39) S199T probably damaging Het
Map2 T A 1: 66,472,723 (GRCm39) C1709* probably null Het
Mrgprf A G 7: 144,861,503 (GRCm39) S22G probably benign Het
Myo1e G T 9: 70,274,983 (GRCm39) R712L probably benign Het
Nras A T 3: 102,967,658 (GRCm39) N85Y probably benign Het
Or4a71 C T 2: 89,358,337 (GRCm39) C139Y probably damaging Het
Or5b3 A T 19: 13,388,475 (GRCm39) I181F probably benign Het
Or6ae1 A G 7: 139,742,660 (GRCm39) S68P Het
Or9q2 T C 19: 13,772,780 (GRCm39) H65R probably damaging Het
Pcp2 T A 8: 3,674,638 (GRCm39) probably benign Het
Pigv T C 4: 133,392,079 (GRCm39) R364G probably benign Het
Plekhh3 T A 11: 101,061,625 (GRCm39) S30C probably damaging Het
Poglut3 A G 9: 53,295,530 (GRCm39) Y44C probably damaging Het
Pramel11 A C 4: 143,623,334 (GRCm39) V280G possibly damaging Het
Pramel51 C T 12: 88,144,055 (GRCm39) A261T possibly damaging Het
Rhof T C 5: 123,258,571 (GRCm39) probably benign Het
Rufy3 A T 5: 88,780,336 (GRCm39) E361D Het
Serpina1b T C 12: 103,698,699 (GRCm39) D50G probably benign Het
Sgsm2 G A 11: 74,756,222 (GRCm39) Q376* probably null Het
Slc18b1 A T 10: 23,692,262 (GRCm39) I246F probably damaging Het
Synrg C G 11: 83,862,409 (GRCm39) P35A probably damaging Het
Tdrp T C 8: 14,005,796 (GRCm39) K42E probably damaging Het
Trappc10 A C 10: 78,029,201 (GRCm39) M1112R probably damaging Het
Ube2e1 A G 14: 18,285,203 (GRCm38) V90A probably damaging Het
Vwde C A 6: 13,205,051 (GRCm39) V277F possibly damaging Het
Zfyve16 A G 13: 92,659,563 (GRCm39) M116T possibly damaging Het
Other mutations in Slc38a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Slc38a9 APN 13 112,838,152 (GRCm39) missense probably damaging 1.00
IGL01950:Slc38a9 APN 13 112,831,787 (GRCm39) missense probably damaging 1.00
IGL01955:Slc38a9 APN 13 112,831,952 (GRCm39) splice site probably benign
IGL02352:Slc38a9 APN 13 112,826,720 (GRCm39) missense probably benign 0.10
IGL02359:Slc38a9 APN 13 112,826,720 (GRCm39) missense probably benign 0.10
IGL02407:Slc38a9 APN 13 112,826,777 (GRCm39) missense probably benign
IGL02511:Slc38a9 APN 13 112,834,541 (GRCm39) missense possibly damaging 0.47
IGL02588:Slc38a9 APN 13 112,834,511 (GRCm39) splice site probably null
IGL03278:Slc38a9 APN 13 112,826,052 (GRCm39) splice site probably benign
R0126:Slc38a9 UTSW 13 112,865,791 (GRCm39) missense possibly damaging 0.52
R0553:Slc38a9 UTSW 13 112,850,732 (GRCm39) missense probably damaging 1.00
R0558:Slc38a9 UTSW 13 112,865,730 (GRCm39) critical splice acceptor site probably null
R0699:Slc38a9 UTSW 13 112,859,823 (GRCm39) missense probably damaging 1.00
R1036:Slc38a9 UTSW 13 112,838,193 (GRCm39) splice site probably benign
R1142:Slc38a9 UTSW 13 112,850,744 (GRCm39) missense probably damaging 1.00
R1344:Slc38a9 UTSW 13 112,826,714 (GRCm39) missense probably benign 0.20
R1418:Slc38a9 UTSW 13 112,826,714 (GRCm39) missense probably benign 0.20
R4223:Slc38a9 UTSW 13 112,850,782 (GRCm39) critical splice donor site probably null
R4344:Slc38a9 UTSW 13 112,865,749 (GRCm39) missense probably benign 0.02
R4824:Slc38a9 UTSW 13 112,859,832 (GRCm39) missense probably damaging 0.98
R4872:Slc38a9 UTSW 13 112,826,098 (GRCm39) missense probably damaging 1.00
R5841:Slc38a9 UTSW 13 112,831,856 (GRCm39) missense possibly damaging 0.76
R5844:Slc38a9 UTSW 13 112,868,035 (GRCm39) missense probably damaging 1.00
R6039:Slc38a9 UTSW 13 112,806,231 (GRCm39) missense probably damaging 1.00
R6039:Slc38a9 UTSW 13 112,806,231 (GRCm39) missense probably damaging 1.00
R6151:Slc38a9 UTSW 13 112,825,910 (GRCm39) missense probably damaging 1.00
R6166:Slc38a9 UTSW 13 112,831,801 (GRCm39) missense possibly damaging 0.96
R6175:Slc38a9 UTSW 13 112,840,093 (GRCm39) nonsense probably null
R6324:Slc38a9 UTSW 13 112,862,634 (GRCm39) missense probably benign 0.01
R6747:Slc38a9 UTSW 13 112,826,714 (GRCm39) missense probably benign 0.20
R6920:Slc38a9 UTSW 13 112,838,060 (GRCm39) missense possibly damaging 0.63
R7342:Slc38a9 UTSW 13 112,806,125 (GRCm39) start gained probably benign
R7592:Slc38a9 UTSW 13 112,831,889 (GRCm39) missense probably damaging 0.99
R7787:Slc38a9 UTSW 13 112,825,880 (GRCm39) missense probably damaging 0.99
R7860:Slc38a9 UTSW 13 112,868,148 (GRCm39) missense probably benign
R8742:Slc38a9 UTSW 13 112,865,818 (GRCm39) missense probably damaging 1.00
R8799:Slc38a9 UTSW 13 112,840,136 (GRCm39) missense probably damaging 1.00
R8824:Slc38a9 UTSW 13 112,838,021 (GRCm39) missense probably benign
R8846:Slc38a9 UTSW 13 112,859,814 (GRCm39) nonsense probably null
R9221:Slc38a9 UTSW 13 112,825,910 (GRCm39) missense probably damaging 1.00
R9780:Slc38a9 UTSW 13 112,862,591 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GGGACCTGATTACGACTCAC -3'
(R):5'- TGCTGCTAAGTTACATAGACTTCC -3'

Sequencing Primer
(F):5'- GGACCTGATTACGACTCACTTTCTAC -3'
(R):5'- GGAGCATTGATATTACCCACTTGC -3'
Posted On 2021-12-30