Incidental Mutation 'R6747:Slc38a9'
ID 530612
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 044864-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R6747 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 112797285-112875283 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112826714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 151 (C151R)
Ref Sequence ENSEMBL: ENSMUSP00000052172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052514] [ENSMUST00000223581]
AlphaFold Q8BGD6
Predicted Effect probably benign
Transcript: ENSMUST00000052514
AA Change: C151R

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052172
Gene: ENSMUSG00000047789
AA Change: C151R

DomainStartEndE-ValueType
Pfam:Aa_trans 114 253 4.5e-17 PFAM
Pfam:Aa_trans 266 560 2.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224584
Meta Mutation Damage Score 0.2240 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C T 3: 121,919,962 (GRCm39) probably null Het
Acyp1 C T 12: 85,325,679 (GRCm39) V107I probably null Het
Aftph T C 11: 20,676,144 (GRCm39) probably null Het
Agtpbp1 A T 13: 59,692,167 (GRCm39) probably null Het
Arhgap15 C A 2: 44,006,689 (GRCm39) P269T probably damaging Het
Arhgap30 T C 1: 171,235,297 (GRCm39) V557A probably damaging Het
Asb3 T A 11: 31,031,493 (GRCm39) M410K probably benign Het
B4galnt2 T C 11: 95,759,460 (GRCm39) probably null Het
Birc2 A G 9: 7,860,262 (GRCm39) probably null Het
Cav2 A T 6: 17,286,950 (GRCm39) N69Y probably damaging Het
Cc2d2b G A 19: 40,784,111 (GRCm39) C826Y probably benign Het
Cenpf T A 1: 189,385,051 (GRCm39) T2410S probably benign Het
Chchd1 A G 14: 20,753,448 (GRCm39) D24G probably benign Het
Cmip G A 8: 118,163,618 (GRCm39) G450S probably benign Het
Col11a1 C T 3: 114,006,099 (GRCm39) Q534* probably null Het
Col3a1 G T 1: 45,377,782 (GRCm39) probably benign Het
Cox4i1 T C 8: 121,399,969 (GRCm39) I31T possibly damaging Het
Cstf3 G T 2: 104,477,112 (GRCm39) V168F probably damaging Het
Dapk1 T C 13: 60,873,154 (GRCm39) I352T probably benign Het
Ddx52 T C 11: 83,846,128 (GRCm39) V456A probably damaging Het
Dmxl2 A T 9: 54,323,372 (GRCm39) H1337Q probably damaging Het
Dnah7a T C 1: 53,675,221 (GRCm39) T369A probably benign Het
Dppa1 T A 11: 46,516,422 (GRCm39) I8F unknown Het
Ebf1 G T 11: 44,774,641 (GRCm39) V213F probably damaging Het
Foxb2 C A 19: 16,850,197 (GRCm39) E270* probably null Het
Gclc A T 9: 77,695,527 (GRCm39) R450W probably damaging Het
Grin2d T C 7: 45,511,692 (GRCm39) E251G probably damaging Het
Hal A T 10: 93,336,539 (GRCm39) N423Y probably damaging Het
Krtap4-8 T A 11: 99,670,917 (GRCm39) I185F unknown Het
Lrp3 T A 7: 34,910,862 (GRCm39) Q61L probably benign Het
Met A C 6: 17,571,466 (GRCm39) Q1296H probably damaging Het
Mphosph9 T A 5: 124,435,762 (GRCm39) N557I possibly damaging Het
Mrpl46 C A 7: 78,432,729 (GRCm39) W16C probably benign Het
Myh13 G A 11: 67,241,245 (GRCm39) R874Q probably damaging Het
Nelfb G A 2: 25,093,393 (GRCm39) T453I probably benign Het
Nos2 A G 11: 78,843,780 (GRCm39) D909G probably damaging Het
Nr5a2 T C 1: 136,810,082 (GRCm39) E431G possibly damaging Het
Nsmce2 A G 15: 59,463,573 (GRCm39) D149G probably benign Het
Or52b1 C T 7: 104,979,234 (GRCm39) R55H probably benign Het
Or5ac21 T C 16: 59,124,004 (GRCm39) F164L probably benign Het
Pcbp4 C A 9: 106,337,847 (GRCm39) probably null Het
Peg10 A G 6: 4,757,137 (GRCm39) probably benign Het
Pms2 C T 5: 143,862,237 (GRCm39) P154L probably benign Het
Pou6f2 A C 13: 18,303,772 (GRCm39) L112R probably benign Het
Pramel30 T C 4: 144,059,548 (GRCm39) W420R probably benign Het
Prdm6 A T 18: 53,598,118 (GRCm39) probably benign Het
Prob1 G A 18: 35,788,207 (GRCm39) R12W probably damaging Het
Rif1 T A 2: 51,968,275 (GRCm39) probably null Het
Rpl9-ps6 A G 19: 32,443,543 (GRCm39) S137P probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,229,113 (GRCm39) probably benign Homo
Sec23ip A G 7: 128,354,573 (GRCm39) silent Het
Slc39a8 T C 3: 135,554,941 (GRCm39) probably null Het
Slc6a18 C A 13: 73,826,110 (GRCm39) probably benign Het
Snw1 T C 12: 87,511,480 (GRCm39) D57G probably damaging Het
Sox6 C G 7: 115,140,966 (GRCm39) R505P probably damaging Het
Speg T C 1: 75,387,039 (GRCm39) probably null Het
Spire2 C T 8: 124,083,585 (GRCm39) R190C probably damaging Het
Stard9 A C 2: 120,528,864 (GRCm39) H1707P possibly damaging Het
Tenm3 G T 8: 48,796,278 (GRCm39) T237K probably damaging Het
Themis2 T A 4: 132,523,573 (GRCm39) E31V possibly damaging Het
Trim56 T G 5: 137,143,375 (GRCm39) Q47P probably damaging Het
Trim58 T C 11: 58,542,090 (GRCm39) I350T probably benign Het
Ttll7 C T 3: 146,649,811 (GRCm39) P639S probably benign Het
Ubxn6 A G 17: 56,377,650 (GRCm39) probably null Het
Vmn2r114 A T 17: 23,528,850 (GRCm39) F417L probably benign Het
Vmn2r29 T A 7: 7,234,421 (GRCm39) M822L probably benign Het
Vps9d1 T C 8: 123,980,746 (GRCm39) D27G probably damaging Het
Wdr3 C T 3: 100,046,040 (GRCm39) R931Q probably damaging Het
Whamm G A 7: 81,228,050 (GRCm39) probably null Het
Zcchc24 T C 14: 25,757,457 (GRCm39) H142R probably damaging Het
Zfp292 T C 4: 34,806,894 (GRCm39) K2050R probably 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
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
R9112:Slc38a9 UTSW 13 112,850,777 (GRCm39) missense probably damaging 0.99
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'- GTAAATAAATGAATAACCGCACTGG -3'
(R):5'- AGGGAGCTGCTATTCCAGAG -3'

Sequencing Primer
(F):5'- CCGCACTGGAAAAGAAAATGATC -3'
(R):5'- GGAGCTGCTATTCCAGAGAACCTC -3'
Posted On 2018-08-01