Incidental Mutation 'IGL02709:Slc39a9'
ID 304485
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 # IGL02709
Quality Score
Status
Chromosome 12
Chromosomal Location 80690657-80730116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80713421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 106 (H106Q)
Ref Sequence ENSEMBL: ENSMUSP00000082343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085245] [ENSMUST00000217889] [ENSMUST00000219405] [ENSMUST00000219689] [ENSMUST00000219706]
AlphaFold Q8BFU1
Predicted Effect probably damaging
Transcript: ENSMUST00000085245
AA Change: H106Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082343
Gene: ENSMUSG00000048833
AA Change: H106Q

DomainStartEndE-ValueType
Pfam:Zip 4 146 2.6e-13 PFAM
Pfam:Zip 132 303 2e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217805
Predicted Effect probably damaging
Transcript: ENSMUST00000217889
AA Change: H106Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000219405
Predicted Effect probably damaging
Transcript: ENSMUST00000219689
AA Change: H19Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219706
AA Change: H106Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging 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
IGL02226:Slc39a9 APN 12 80,691,695 (GRCm39) missense probably damaging 1.00
IGL02439:Slc39a9 APN 12 80,713,350 (GRCm39) missense probably benign 0.03
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