Incidental Mutation 'IGL02226:Slc39a9'
ID285347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc39a9
Ensembl Gene ENSMUSG00000048833
Gene Namesolute carrier family 39 (zinc transporter), member 9
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.488) question?
Stock #IGL02226
Quality Score
Status
Chromosome12
Chromosomal Location80643883-80683342 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 80644922 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 14 (M14I)
Ref Sequence ENSEMBL: ENSMUSP00000151396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021559] [ENSMUST00000085245] [ENSMUST00000166931] [ENSMUST00000217889] [ENSMUST00000218364] [ENSMUST00000218740] [ENSMUST00000219405] [ENSMUST00000219706]
Predicted Effect probably benign
Transcript: ENSMUST00000021559
SMART Domains Protein: ENSMUSP00000021559
Gene: ENSMUSG00000021131

DomainStartEndE-ValueType
Pfam:ER 1 103 9.9e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000085245
AA Change: M14I

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082343
Gene: ENSMUSG00000048833
AA Change: M14I

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: M14I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218336
Predicted Effect probably benign
Transcript: ENSMUST00000218364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218440
Predicted Effect probably benign
Transcript: ENSMUST00000218740
Predicted Effect probably benign
Transcript: ENSMUST00000219405
Predicted Effect probably benign
Transcript: ENSMUST00000219706
AA Change: M14I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik A C X: 89,931,912 D226E probably damaging Het
Akap6 T C 12: 53,010,467 probably benign Het
Ankrd11 G A 8: 122,892,245 R1602W probably damaging Het
Arhgap23 G T 11: 97,451,600 R236L probably benign Het
Aurkaip1 T C 4: 155,832,571 V92A probably benign Het
Cdh20 A T 1: 104,954,091 probably benign Het
Ctnnd2 A G 15: 30,847,336 N691S probably benign Het
Ddx24 A C 12: 103,424,458 D2E possibly damaging Het
Dennd5b A G 6: 149,033,301 S691P probably benign Het
Dhrs3 C T 4: 144,923,949 R248W possibly damaging Het
Dlgap1 T C 17: 70,516,034 S5P probably damaging Het
Ep300 A T 15: 81,613,412 M510L unknown Het
Fbxo25 T C 8: 13,923,922 probably benign Het
Gm3252 A T 14: 4,743,741 K193M possibly damaging Het
Gtf3c1 T C 7: 125,667,990 probably null Het
Helz2 T C 2: 181,231,690 D2337G probably damaging Het
Idh1 A T 1: 65,161,922 M290K probably damaging Het
Layn T C 9: 51,074,017 S80G probably damaging Het
Ltbp4 C T 7: 27,306,934 E1440K probably damaging Het
Mri1 T C 8: 84,256,295 T166A probably damaging Het
Myod1 C T 7: 46,378,306 T290I probably benign Het
Nfat5 T A 8: 107,351,522 L431* probably null Het
Nle1 A T 11: 82,904,307 Y299* probably null Het
Nlrp4c T A 7: 6,066,829 F576L possibly damaging Het
Nudt21 G T 8: 94,019,701 S123* probably null Het
Plekhg1 A C 10: 3,945,916 D436A probably damaging Het
Plxna2 T C 1: 194,644,424 V222A probably damaging Het
Rbm14 A G 19: 4,801,717 probably benign Het
Scfd1 T A 12: 51,389,381 probably benign Het
Slc34a2 A G 5: 53,067,731 T405A probably benign Het
Spast G A 17: 74,372,339 probably benign Het
Spen T C 4: 141,478,146 R1057G unknown Het
Sptbn4 T G 7: 27,365,707 T2056P probably damaging Het
Ssrp1 T C 2: 85,040,361 L148P probably damaging Het
Tdrd6 T A 17: 43,627,202 H985L probably damaging Het
Tmem44 A G 16: 30,539,381 probably benign Het
Vmn2r116 T A 17: 23,384,834 L11Q probably null Het
Wdr78 A T 4: 103,090,398 I227K probably benign Het
Other mutations in Slc39a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01834:Slc39a9 APN 12 80673299 splice site probably benign
IGL02226:Slc39a9 APN 12 80644921 missense probably damaging 1.00
IGL02439:Slc39a9 APN 12 80666576 missense probably benign 0.03
IGL02709:Slc39a9 APN 12 80666647 missense probably damaging 1.00
IGL03410:Slc39a9 APN 12 80644888 missense probably damaging 1.00
R1753:Slc39a9 UTSW 12 80677202 missense probably damaging 1.00
R1868:Slc39a9 UTSW 12 80679523 missense probably damaging 1.00
R2191:Slc39a9 UTSW 12 80662527 missense probably damaging 1.00
R2351:Slc39a9 UTSW 12 80644886 missense possibly damaging 0.88
R7336:Slc39a9 UTSW 12 80679542 missense probably damaging 1.00
Z1176:Slc39a9 UTSW 12 80677300 missense probably damaging 1.00
Posted On2015-04-16