Incidental Mutation 'IGL02226:Slc39a9'
ID 285346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc39a9
Ensembl Gene ENSMUSG00000048833
Gene Name solute carrier family 39 (zinc transporter), member 9
Synonyms 2010002A02Rik, 2610511I23Rik, 4833420E20Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.659) question?
Stock # IGL02226
Quality Score
Status
Chromosome 12
Chromosomal Location 80690657-80730116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80691695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 14 (M14K)
Ref Sequence ENSEMBL: ENSMUSP00000151396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021559] [ENSMUST00000085245] [ENSMUST00000166931] [ENSMUST00000217889] [ENSMUST00000219706] [ENSMUST00000219405] [ENSMUST00000218740] [ENSMUST00000218364]
AlphaFold Q8BFU1
Predicted Effect probably benign
Transcript: ENSMUST00000021559
SMART Domains Protein: ENSMUSP00000021559
Gene: ENSMUSG00000021131

DomainStartEndE-ValueType
Pfam:ER 1 103 9.9e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000085245
AA Change: M14K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082343
Gene: ENSMUSG00000048833
AA Change: M14K

DomainStartEndE-ValueType
Pfam:Zip 4 146 2.6e-13 PFAM
Pfam:Zip 132 303 2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166931
SMART Domains Protein: ENSMUSP00000129620
Gene: ENSMUSG00000021131

DomainStartEndE-ValueType
Pfam:ER 21 118 4.6e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217770
Predicted Effect probably damaging
Transcript: ENSMUST00000217889
AA Change: M14K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218336
Predicted Effect probably benign
Transcript: ENSMUST00000219706
AA Change: M14K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218440
Predicted Effect probably benign
Transcript: ENSMUST00000219405
Predicted Effect probably benign
Transcript: ENSMUST00000218740
Predicted Effect probably benign
Transcript: ENSMUST00000218364
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T C 12: 53,057,250 (GRCm39) probably benign Het
Ankrd11 G A 8: 123,618,984 (GRCm39) R1602W probably damaging Het
Arhgap23 G T 11: 97,342,426 (GRCm39) R236L probably benign Het
Aurkaip1 T C 4: 155,917,028 (GRCm39) V92A probably benign Het
Cdh20 A T 1: 104,881,816 (GRCm39) probably benign Het
Ctnnd2 A G 15: 30,847,482 (GRCm39) N691S probably benign Het
Ddx24 A C 12: 103,390,717 (GRCm39) D2E possibly damaging Het
Dennd5b A G 6: 148,934,799 (GRCm39) S691P probably benign Het
Dhrs3 C T 4: 144,650,519 (GRCm39) R248W possibly damaging Het
Dlgap1 T C 17: 70,823,029 (GRCm39) S5P probably damaging Het
Dnai4 A T 4: 102,947,595 (GRCm39) I227K probably benign Het
Ep300 A T 15: 81,497,613 (GRCm39) M510L unknown Het
Fbxo25 T C 8: 13,973,922 (GRCm39) probably benign Het
Gm3252 A T 14: 4,743,741 (GRCm38) K193M possibly damaging Het
Gtf3c1 T C 7: 125,267,162 (GRCm39) probably null Het
Helz2 T C 2: 180,873,483 (GRCm39) D2337G probably damaging Het
Idh1 A T 1: 65,201,081 (GRCm39) M290K probably damaging Het
Layn T C 9: 50,985,317 (GRCm39) S80G probably damaging Het
Ltbp4 C T 7: 27,006,359 (GRCm39) E1440K probably damaging Het
Mri1 T C 8: 84,982,924 (GRCm39) T166A probably damaging Het
Myod1 C T 7: 46,027,730 (GRCm39) T290I probably benign Het
Nfat5 T A 8: 108,078,154 (GRCm39) L431* probably null Het
Nle1 A T 11: 82,795,133 (GRCm39) Y299* probably null Het
Nlrp4c T A 7: 6,069,828 (GRCm39) F576L possibly damaging Het
Nudt21 G T 8: 94,746,329 (GRCm39) S123* probably null Het
Plekhg1 A C 10: 3,895,916 (GRCm39) D436A probably damaging Het
Plxna2 T C 1: 194,326,732 (GRCm39) V222A probably damaging Het
Ppp4r3c1 A C X: 88,975,518 (GRCm39) D226E probably damaging Het
Rbm14 A G 19: 4,851,745 (GRCm39) probably benign Het
Scfd1 T A 12: 51,436,164 (GRCm39) probably benign Het
Slc34a2 A G 5: 53,225,073 (GRCm39) T405A probably benign Het
Spast G A 17: 74,679,334 (GRCm39) probably benign Het
Spen T C 4: 141,205,457 (GRCm39) R1057G unknown Het
Sptbn4 T G 7: 27,065,132 (GRCm39) T2056P probably damaging Het
Ssrp1 T C 2: 84,870,705 (GRCm39) L148P probably damaging Het
Tdrd6 T A 17: 43,938,093 (GRCm39) H985L probably damaging Het
Tmem44 A G 16: 30,358,199 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,603,808 (GRCm39) L11Q probably null Het
Other mutations in Slc39a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01834:Slc39a9 APN 12 80,720,073 (GRCm39) splice site probably benign
IGL02226:Slc39a9 APN 12 80,691,696 (GRCm39) missense probably damaging 0.98
IGL02439:Slc39a9 APN 12 80,713,350 (GRCm39) missense probably benign 0.03
IGL02709:Slc39a9 APN 12 80,713,421 (GRCm39) missense probably damaging 1.00
IGL03410:Slc39a9 APN 12 80,691,662 (GRCm39) missense probably damaging 1.00
R1753:Slc39a9 UTSW 12 80,723,976 (GRCm39) missense probably damaging 1.00
R1868:Slc39a9 UTSW 12 80,726,297 (GRCm39) missense probably damaging 1.00
R2191:Slc39a9 UTSW 12 80,709,301 (GRCm39) missense probably damaging 1.00
R2351:Slc39a9 UTSW 12 80,691,660 (GRCm39) missense possibly damaging 0.88
R7336:Slc39a9 UTSW 12 80,726,316 (GRCm39) missense probably damaging 1.00
R7965:Slc39a9 UTSW 12 80,713,450 (GRCm39) missense probably damaging 1.00
Z1176:Slc39a9 UTSW 12 80,724,074 (GRCm39) missense probably damaging 1.00
Z1191:Slc39a9 UTSW 12 80,691,502 (GRCm39) start gained probably benign
Posted On 2015-04-16