Incidental Mutation 'IGL03185:Slc30a9'
ID412435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc30a9
Ensembl Gene ENSMUSG00000029221
Gene Namesolute carrier family 30 (zinc transporter), member 9
Synonyms2310024J23Rik, GAC63
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.912) question?
Stock #IGL03185
Quality Score
Status
Chromosome5
Chromosomal Location67306955-67358443 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 67333063 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 226 (R226G)
Ref Sequence ENSEMBL: ENSMUSP00000124047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113676] [ENSMUST00000162372] [ENSMUST00000202521]
Predicted Effect probably benign
Transcript: ENSMUST00000113676
AA Change: R206G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109306
Gene: ENSMUSG00000029221
AA Change: R206G

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
PDB:2ENK|A 103 196 2e-54 PDB
SCOP:d1d4ua1 106 174 3e-28 SMART
Pfam:Cation_efflux 219 547 1.6e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161169
Predicted Effect probably benign
Transcript: ENSMUST00000162372
AA Change: R226G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124047
Gene: ENSMUSG00000029221
AA Change: R226G

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
PDB:2ENK|A 123 216 2e-54 PDB
SCOP:d1d4ua1 126 194 5e-28 SMART
Pfam:Cation_efflux 239 449 1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200734
Predicted Effect probably benign
Transcript: ENSMUST00000202521
Predicted Effect probably benign
Transcript: ENSMUST00000202770
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,347,905 D77G probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Babam2 T C 5: 31,702,032 I27T possibly damaging Het
BC027072 A T 17: 71,749,337 I1115K probably damaging Het
Ccdc150 A G 1: 54,300,323 E442G probably damaging Het
Ccdc92 A G 5: 124,835,950 Y172H probably damaging Het
Chl1 T A 6: 103,665,863 D187E probably damaging Het
Col6a4 A T 9: 106,019,454 F1721I probably damaging Het
Corin C T 5: 72,332,781 G542D probably damaging Het
Dennd1c C T 17: 57,066,803 D587N probably benign Het
Dnah10 A G 5: 124,817,643 Y3424C probably damaging Het
Echdc1 T A 10: 29,331,840 F127I possibly damaging Het
F13b T A 1: 139,516,386 V486E probably benign Het
Fkbp15 C T 4: 62,332,186 probably null Het
Glt8d2 T A 10: 82,662,276 I100F probably damaging Het
Gm15448 A G 7: 3,823,230 Y255H probably damaging Het
Gmip C T 8: 69,809,783 P10L probably benign Het
Grm7 T C 6: 110,646,222 S119P possibly damaging Het
Kdelc1 G A 1: 44,117,199 S76L probably benign Het
Klf4 T C 4: 55,530,911 T58A possibly damaging Het
Mink1 T C 11: 70,603,860 I289T probably damaging Het
Mptx2 A T 1: 173,274,789 V111D possibly damaging Het
Muc5b A T 7: 141,862,822 E3168D possibly damaging Het
Mylk3 C A 8: 85,327,204 V695F probably damaging Het
Olfr736 C A 14: 50,393,398 T214K probably damaging Het
Olfr836 T A 9: 19,121,738 V258E probably damaging Het
Pprc1 C A 19: 46,069,747 probably benign Het
Prkaa2 C T 4: 105,039,721 probably null Het
Prss50 A G 9: 110,858,211 Y74C probably benign Het
Rnf145 T C 11: 44,531,330 L80P probably damaging Het
Serpinb3b T C 1: 107,156,932 I120V probably benign Het
Sgca T C 11: 94,970,784 M212V probably benign Het
Slc1a6 T A 10: 78,801,907 D422E probably damaging Het
Slc5a11 A G 7: 123,265,189 D336G possibly damaging Het
Slfn8 T C 11: 83,017,507 H70R probably benign Het
Stoml2 T C 4: 43,029,065 N269S probably benign Het
Synrg A G 11: 83,981,479 E142G probably damaging Het
Thbs2 G A 17: 14,681,410 Q436* probably null Het
Tyk2 T C 9: 21,109,384 N917S probably damaging Het
Zfhx4 C A 3: 5,403,914 T3069K probably benign Het
Zfp446 G T 7: 12,978,998 V88F probably null Het
Zp3 A G 5: 135,982,721 N131S possibly damaging Het
Other mutations in Slc30a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Slc30a9 APN 5 67342109 missense probably damaging 1.00
IGL00975:Slc30a9 APN 5 67349826 missense probably damaging 1.00
IGL01129:Slc30a9 APN 5 67342143 missense probably damaging 1.00
IGL01377:Slc30a9 APN 5 67315830 missense probably benign
IGL01785:Slc30a9 APN 5 67346238 splice site probably benign
IGL01786:Slc30a9 APN 5 67346238 splice site probably benign
IGL02407:Slc30a9 APN 5 67352722 missense probably damaging 1.00
IGL03276:Slc30a9 APN 5 67349917 splice site probably benign
IGL03380:Slc30a9 APN 5 67315711 missense probably benign 0.04
ANU74:Slc30a9 UTSW 5 67349852 missense probably damaging 1.00
R0539:Slc30a9 UTSW 5 67334610 missense probably damaging 1.00
R1401:Slc30a9 UTSW 5 67352662 missense probably benign
R1554:Slc30a9 UTSW 5 67326921 missense probably damaging 1.00
R1824:Slc30a9 UTSW 5 67348052 missense probably damaging 1.00
R2029:Slc30a9 UTSW 5 67339975 nonsense probably null
R4385:Slc30a9 UTSW 5 67315767 missense probably damaging 1.00
R4704:Slc30a9 UTSW 5 67342273 intron probably benign
R4868:Slc30a9 UTSW 5 67324683 missense probably benign
R4907:Slc30a9 UTSW 5 67346162 missense probably damaging 1.00
R5553:Slc30a9 UTSW 5 67345604 intron probably null
R6002:Slc30a9 UTSW 5 67342117 missense probably damaging 1.00
R6477:Slc30a9 UTSW 5 67328524 missense probably benign 0.01
R6718:Slc30a9 UTSW 5 67333100 missense probably damaging 1.00
R7113:Slc30a9 UTSW 5 67326862 missense probably benign 0.17
R7224:Slc30a9 UTSW 5 67315701 missense probably benign
R7327:Slc30a9 UTSW 5 67342119 missense probably damaging 1.00
R7394:Slc30a9 UTSW 5 67352766 critical splice donor site probably null
R7467:Slc30a9 UTSW 5 67345644 missense probably benign 0.08
R7514:Slc30a9 UTSW 5 67348078 missense possibly damaging 0.68
R8020:Slc30a9 UTSW 5 67307033 start gained probably benign
Z1176:Slc30a9 UTSW 5 67339958 missense probably damaging 1.00
Posted On2016-08-02