Incidental Mutation 'IGL01522:Slc38a2'
ID 89430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a2
Ensembl Gene ENSMUSG00000022462
Gene Name solute carrier family 38, member 2
Synonyms 5033402L14Rik
Accession Numbers

NCBI RefSeq: NM_175121.3; MGI:1915010
Is this an essential gene? Possibly non essential (E-score: 0.269) question?
Stock # IGL01522
Quality Score
Status
Chromosome 15
Chromosomal Location 96687392-96699730 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 96693055 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 276 (D276N)
Ref Sequence ENSEMBL: ENSMUSP00000023099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023099]
AlphaFold Q8CFE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000023099
AA Change: D276N

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023099
Gene: ENSMUSG00000022462
AA Change: D276N

DomainStartEndE-ValueType
low complexity region 10 30 N/A INTRINSIC
Pfam:Aa_trans 69 492 2e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229141
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(18) : Targeted(2) Gene trapped(16)
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Akr1c19 A G 13: 4,239,099 probably benign Het
Ankrd39 T A 1: 36,542,061 H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 C209Y probably damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Mmp7 T C 9: 7,692,228 W35R probably damaging Het
Ndc80 A G 17: 71,499,325 V578A probably benign Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr547 A T 7: 102,535,184 I146F probably damaging Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Plin3 C T 17: 56,280,799 W305* probably null Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 H54L probably damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Uso1 T C 5: 92,181,419 F389L probably damaging Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Slc38a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Slc38a2 APN 15 96693185 splice site probably benign
IGL01679:Slc38a2 APN 15 96697954 nonsense probably null
IGL01720:Slc38a2 APN 15 96691211 splice site probably benign
IGL02198:Slc38a2 APN 15 96692377 missense probably damaging 0.99
IGL02685:Slc38a2 APN 15 96691425 missense probably benign 0.00
IGL03211:Slc38a2 APN 15 96698272 splice site probably null
P0014:Slc38a2 UTSW 15 96690161 missense probably damaging 0.96
R0068:Slc38a2 UTSW 15 96691292 splice site probably null
R0068:Slc38a2 UTSW 15 96691292 splice site probably null
R0684:Slc38a2 UTSW 15 96695287 nonsense probably null
R1537:Slc38a2 UTSW 15 96693153 missense possibly damaging 0.50
R1638:Slc38a2 UTSW 15 96692536 missense probably damaging 1.00
R1922:Slc38a2 UTSW 15 96691162 missense possibly damaging 0.95
R2294:Slc38a2 UTSW 15 96691762 missense probably benign
R4672:Slc38a2 UTSW 15 96698637 missense probably benign 0.00
R5799:Slc38a2 UTSW 15 96695089 missense probably benign 0.29
R5878:Slc38a2 UTSW 15 96692584 missense probably damaging 0.96
R6188:Slc38a2 UTSW 15 96692516 critical splice donor site probably null
R7097:Slc38a2 UTSW 15 96693301 missense probably damaging 0.98
R7122:Slc38a2 UTSW 15 96693301 missense probably damaging 0.98
R7130:Slc38a2 UTSW 15 96691382 missense probably damaging 1.00
R7224:Slc38a2 UTSW 15 96691359 missense probably damaging 1.00
R7776:Slc38a2 UTSW 15 96690152 missense probably benign 0.04
R7896:Slc38a2 UTSW 15 96693585 missense probably damaging 1.00
R7964:Slc38a2 UTSW 15 96692572 missense probably benign 0.29
R8427:Slc38a2 UTSW 15 96692413 missense probably damaging 0.98
R8487:Slc38a2 UTSW 15 96695291 nonsense probably null
R8845:Slc38a2 UTSW 15 96695019 missense probably benign 0.00
R9400:Slc38a2 UTSW 15 96693172 missense probably benign 0.14
Posted On 2013-12-03