Incidental Mutation 'IGL01321:Slc30a2'
ID74055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc30a2
Ensembl Gene ENSMUSG00000028836
Gene Namesolute carrier family 30 (zinc transporter), member 2
SynonymsZnt2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #IGL01321
Quality Score
Status
Chromosome4
Chromosomal Location134343181-134354484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 134343300 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 5 (D5V)
Ref Sequence ENSEMBL: ENSMUSP00000101499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081094] [ENSMUST00000105872] [ENSMUST00000105873] [ENSMUST00000105874]
Predicted Effect probably benign
Transcript: ENSMUST00000081094
SMART Domains Protein: ENSMUSP00000079875
Gene: ENSMUSG00000028836

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105872
SMART Domains Protein: ENSMUSP00000101498
Gene: ENSMUSG00000028836

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105873
AA Change: D5V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101499
Gene: ENSMUSG00000028836
AA Change: D5V

DomainStartEndE-ValueType
Pfam:Cation_efflux 74 311 3.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105874
AA Change: D5V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836
AA Change: D5V

DomainStartEndE-ValueType
Pfam:Cation_efflux 70 277 3.4e-51 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,843 V76D probably damaging Het
Acnat2 A G 4: 49,380,269 S370P probably damaging Het
Adamts5 T C 16: 85,899,475 R265G probably benign Het
Cd2ap T C 17: 42,845,389 S86G possibly damaging Het
Cers3 A C 7: 66,786,003 probably benign Het
Dnaaf2 G T 12: 69,196,602 P562T probably damaging Het
Dnajc21 A C 15: 10,447,102 V520G probably benign Het
Dpcr1 A T 17: 35,636,866 N490K probably damaging Het
Dync1h1 A G 12: 110,625,607 probably benign Het
Extl3 T C 14: 65,066,762 N733D probably benign Het
Gm5499 T A 17: 87,078,500 noncoding transcript Het
Gstm6 T C 3: 107,941,063 Q180R probably benign Het
Hdlbp G A 1: 93,423,802 R460W probably damaging Het
Ift81 T C 5: 122,610,968 D40G probably damaging Het
Igsf3 T A 3: 101,427,022 probably benign Het
Kcnb2 A G 1: 15,312,923 T158A probably benign Het
Lrrc59 C T 11: 94,638,600 R167* probably null Het
Macf1 A G 4: 123,440,774 C4397R probably damaging Het
Morc1 T C 16: 48,582,462 S583P probably benign Het
Nipsnap2 T A 5: 129,757,141 *282R probably null Het
Olfr1160 A T 2: 88,006,245 C178S probably damaging Het
Olfr703 T C 7: 106,844,749 L46P probably damaging Het
Parp14 T A 16: 35,856,559 Q1013L probably benign Het
Pdzd8 A C 19: 59,301,529 S480A probably benign Het
Piezo1 A T 8: 122,487,600 S1609R probably damaging Het
Pkp4 G A 2: 59,350,627 probably null Het
Plpp2 A T 10: 79,527,493 V106D probably damaging Het
Rimbp2 T C 5: 128,786,752 Y724C probably benign Het
Rpgrip1l A T 8: 91,260,873 L852* probably null Het
Samd9l T A 6: 3,376,259 D334V probably benign Het
Sipa1l2 G A 8: 125,491,518 T360M probably damaging Het
Spata31 T C 13: 64,921,754 I572T probably benign Het
Tma16 G A 8: 66,476,860 L161F probably benign Het
Trim69 A T 2: 122,173,284 E238V possibly damaging Het
Zfhx4 A G 3: 5,242,328 T205A probably benign Het
Other mutations in Slc30a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01822:Slc30a2 APN 4 134348637 missense probably damaging 0.98
IGL02808:Slc30a2 APN 4 134344049 missense possibly damaging 0.65
R1415:Slc30a2 UTSW 4 134349349 missense probably damaging 1.00
R2279:Slc30a2 UTSW 4 134348546 missense probably benign
R4151:Slc30a2 UTSW 4 134344048 missense probably benign 0.00
R4278:Slc30a2 UTSW 4 134346049 missense probably null 1.00
R4783:Slc30a2 UTSW 4 134344006 critical splice acceptor site probably null
R5823:Slc30a2 UTSW 4 134345978 missense probably damaging 0.98
R7017:Slc30a2 UTSW 4 134347415 missense probably damaging 1.00
R7018:Slc30a2 UTSW 4 134347415 missense probably damaging 1.00
R7021:Slc30a2 UTSW 4 134347415 missense probably damaging 1.00
R7034:Slc30a2 UTSW 4 134347342 missense possibly damaging 0.80
R7053:Slc30a2 UTSW 4 134347415 missense probably damaging 1.00
R7056:Slc30a2 UTSW 4 134347415 missense probably damaging 1.00
R7057:Slc30a2 UTSW 4 134347415 missense probably damaging 1.00
R7067:Slc30a2 UTSW 4 134344218 critical splice donor site probably null
R7138:Slc30a2 UTSW 4 134344118 missense probably benign 0.00
R7275:Slc30a2 UTSW 4 134349270 splice site probably null
R7289:Slc30a2 UTSW 4 134344213 missense possibly damaging 0.69
R8015:Slc30a2 UTSW 4 134347450 missense probably benign 0.01
Z1176:Slc30a2 UTSW 4 134344089 missense probably benign 0.00
Z1177:Slc30a2 UTSW 4 134347455 frame shift probably null
Posted On2013-10-07