Incidental Mutation 'IGL01377:Slc30a9'
ID78757
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: 0.922) question?
Stock #IGL01377
Quality Score
Status
Chromosome5
Chromosomal Location67306955-67358443 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 67315830 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 86 (S86A)
Ref Sequence ENSEMBL: ENSMUSP00000124047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113676] [ENSMUST00000162372] [ENSMUST00000202521]
Predicted Effect probably benign
Transcript: ENSMUST00000113676
AA Change: S86A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109306
Gene: ENSMUSG00000029221
AA Change: S86A

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: ENSMUST00000159907
Predicted Effect probably benign
Transcript: ENSMUST00000162372
AA Change: S86A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124047
Gene: ENSMUSG00000029221
AA Change: S86A

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 unknown
Transcript: ENSMUST00000200734
AA Change: S44A
Predicted Effect probably benign
Transcript: ENSMUST00000202521
Predicted Effect unknown
Transcript: ENSMUST00000202770
AA Change: S35A
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,973,452 probably null Het
A530064D06Rik A T 17: 48,152,940 V196D probably damaging Het
Ago1 C T 4: 126,459,817 V279M probably damaging Het
Ccdc170 A G 10: 4,560,966 D675G probably damaging Het
Cdc42bpa T A 1: 180,065,143 Y291N probably damaging Het
Cdca5 T C 19: 6,090,282 S158P probably damaging Het
Cdh8 A G 8: 99,033,389 I576T probably damaging Het
Cpsf2 T A 12: 101,987,381 probably null Het
Cyc1 C T 15: 76,344,962 R143* probably null Het
Dcaf6 A T 1: 165,388,724 S437T probably benign Het
Eif5b A G 1: 38,036,098 D552G probably benign Het
Epor T C 9: 21,959,297 D429G probably damaging Het
Farp2 A G 1: 93,603,459 I560V possibly damaging Het
Fbxw21 T A 9: 109,146,645 R228* probably null Het
Fyb T C 15: 6,580,320 S125P probably benign Het
Gfm1 A T 3: 67,474,753 Y720F probably damaging Het
Hspbap1 T A 16: 35,825,311 D455E possibly damaging Het
Katnal2 T C 18: 77,002,457 R285G probably damaging Het
Kif12 G A 4: 63,170,725 T153I probably damaging Het
Klhl31 T C 9: 77,650,731 F243S probably benign Het
Large2 A G 2: 92,369,331 Y208H probably damaging Het
Lrp1b A G 2: 40,601,538 V239A probably damaging Het
Mblac2 G A 13: 81,750,147 R214H probably damaging Het
Mlf2 A G 6: 124,934,691 N168D probably damaging Het
Mtmr6 T A 14: 60,282,034 Y134* probably null Het
Mtus1 T C 8: 41,083,135 K515E possibly damaging Het
Nek1 A G 8: 61,089,456 T718A probably benign Het
Nfx1 A G 4: 40,977,241 N305S probably benign Het
Nrxn3 T A 12: 89,533,012 probably null Het
Nsf T C 11: 103,872,647 D377G probably damaging Het
Pde4b A G 4: 102,487,402 E102G probably damaging Het
Pdlim4 G T 11: 54,056,304 S56R probably benign Het
Poc5 T C 13: 96,401,631 V268A probably benign Het
Sec23b A C 2: 144,559,237 E6A probably damaging Het
Sgsm1 A T 5: 113,276,182 probably benign Het
Slc16a12 T A 19: 34,672,684 N317I possibly damaging Het
Slc1a7 A T 4: 107,992,965 D91V probably damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tacr1 T C 6: 82,403,655 S16P probably benign Het
Tmtc1 A C 6: 148,245,787 V804G possibly damaging Het
Ttc7b A G 12: 100,355,112 F587L probably benign Het
Vmn2r86 A T 10: 130,452,986 D215E probably 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
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
IGL03185:Slc30a9 APN 5 67333063 missense probably benign
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 On2013-11-05