Incidental Mutation 'R6718:Slc30a9'
ID 529458
Institutional Source Beutler Lab
Gene Symbol Slc30a9
Ensembl Gene ENSMUSG00000029221
Gene Name solute carrier family 30 (zinc transporter), member 9
Synonyms GAC63, 2310024J23Rik
MMRRC Submission 044836-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R6718 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 67464298-67513485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67490443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 218 (V218A)
Ref Sequence ENSEMBL: ENSMUSP00000109306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113676] [ENSMUST00000162372] [ENSMUST00000202521]
AlphaFold Q5IRJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000113676
AA Change: V218A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109306
Gene: ENSMUSG00000029221
AA Change: V218A

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 damaging
Transcript: ENSMUST00000162372
AA Change: V238A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124047
Gene: ENSMUSG00000029221
AA Change: V238A

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,554,346 (GRCm39) T452I probably damaging Het
Asb8 A G 15: 98,034,015 (GRCm39) I180T probably benign Het
Cdh18 A G 15: 23,226,835 (GRCm39) T45A probably benign Het
Col12a1 T A 9: 79,606,887 (GRCm39) Y512F probably damaging Het
Col6a1 A G 10: 76,560,884 (GRCm39) F38S probably damaging Het
Hoxc5 A G 15: 102,922,698 (GRCm39) probably null Het
Kmt2d TATGCTGCTG TATGCTGCTGATGCTGCTG 15: 98,747,467 (GRCm39) probably benign Het
Kmt2d C T 15: 98,748,420 (GRCm39) probably benign Het
Lrp2 G T 2: 69,314,124 (GRCm39) H2202Q probably benign Het
Maf C A 8: 116,433,539 (GRCm39) V22F unknown Het
Mrgpra3 C T 7: 47,239,444 (GRCm39) V161M probably benign Het
Or7g33 G T 9: 19,448,495 (GRCm39) H244N probably damaging Het
Otx1 T C 11: 21,946,412 (GRCm39) probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pex11a A G 7: 79,387,230 (GRCm39) F201L probably benign Het
Pigu A G 2: 155,143,206 (GRCm39) Y232H possibly damaging Het
Pms2 T C 5: 143,860,307 (GRCm39) I40T probably damaging Het
Pura A G 18: 36,420,696 (GRCm39) N161S probably damaging Het
Ranbp10 A G 8: 106,501,260 (GRCm39) V330A possibly damaging Het
Spindoc C T 19: 7,335,781 (GRCm39) V336I probably damaging Het
Tmprss9 A G 10: 80,726,198 (GRCm39) T483A probably benign Het
Other mutations in Slc30a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Slc30a9 APN 5 67,499,452 (GRCm39) missense probably damaging 1.00
IGL00975:Slc30a9 APN 5 67,507,169 (GRCm39) missense probably damaging 1.00
IGL01129:Slc30a9 APN 5 67,499,486 (GRCm39) missense probably damaging 1.00
IGL01377:Slc30a9 APN 5 67,473,173 (GRCm39) missense probably benign
IGL01785:Slc30a9 APN 5 67,503,581 (GRCm39) splice site probably benign
IGL01786:Slc30a9 APN 5 67,503,581 (GRCm39) splice site probably benign
IGL02407:Slc30a9 APN 5 67,510,065 (GRCm39) missense probably damaging 1.00
IGL03185:Slc30a9 APN 5 67,490,406 (GRCm39) missense probably benign
IGL03276:Slc30a9 APN 5 67,507,260 (GRCm39) splice site probably benign
IGL03380:Slc30a9 APN 5 67,473,054 (GRCm39) missense probably benign 0.04
ANU74:Slc30a9 UTSW 5 67,507,195 (GRCm39) missense probably damaging 1.00
R0539:Slc30a9 UTSW 5 67,491,953 (GRCm39) missense probably damaging 1.00
R1401:Slc30a9 UTSW 5 67,510,005 (GRCm39) missense probably benign
R1554:Slc30a9 UTSW 5 67,484,264 (GRCm39) missense probably damaging 1.00
R1824:Slc30a9 UTSW 5 67,505,395 (GRCm39) missense probably damaging 1.00
R2029:Slc30a9 UTSW 5 67,497,318 (GRCm39) nonsense probably null
R4385:Slc30a9 UTSW 5 67,473,110 (GRCm39) missense probably damaging 1.00
R4704:Slc30a9 UTSW 5 67,499,616 (GRCm39) intron probably benign
R4868:Slc30a9 UTSW 5 67,482,026 (GRCm39) missense probably benign
R4907:Slc30a9 UTSW 5 67,503,505 (GRCm39) missense probably damaging 1.00
R5553:Slc30a9 UTSW 5 67,502,947 (GRCm39) splice site probably null
R6002:Slc30a9 UTSW 5 67,499,460 (GRCm39) missense probably damaging 1.00
R6477:Slc30a9 UTSW 5 67,485,867 (GRCm39) missense probably benign 0.01
R7113:Slc30a9 UTSW 5 67,484,205 (GRCm39) missense probably benign 0.17
R7224:Slc30a9 UTSW 5 67,473,044 (GRCm39) missense probably benign
R7327:Slc30a9 UTSW 5 67,499,462 (GRCm39) missense probably damaging 1.00
R7394:Slc30a9 UTSW 5 67,510,109 (GRCm39) critical splice donor site probably null
R7467:Slc30a9 UTSW 5 67,502,987 (GRCm39) missense probably benign 0.08
R7514:Slc30a9 UTSW 5 67,505,421 (GRCm39) missense possibly damaging 0.68
R8020:Slc30a9 UTSW 5 67,464,376 (GRCm39) start gained probably benign
R8299:Slc30a9 UTSW 5 67,484,248 (GRCm39) missense probably damaging 1.00
R8336:Slc30a9 UTSW 5 67,473,058 (GRCm39) nonsense probably null
R8882:Slc30a9 UTSW 5 67,473,044 (GRCm39) nonsense probably null
R9079:Slc30a9 UTSW 5 67,484,241 (GRCm39) missense possibly damaging 0.60
R9365:Slc30a9 UTSW 5 67,507,142 (GRCm39) missense probably damaging 1.00
R9431:Slc30a9 UTSW 5 67,505,278 (GRCm39) missense probably damaging 1.00
Z1176:Slc30a9 UTSW 5 67,497,301 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCCTTTAAAGAGAGATGTTGGATG -3'
(R):5'- CCCAAATCAAATGTCCATAGGG -3'

Sequencing Primer
(F):5'- GAAAAGAATTTGATAGCAAGCCTCC -3'
(R):5'- TATCATTTCACTGGGCCACAAC -3'
Posted On 2018-08-01