Incidental Mutation 'IGL01822:Slc30a2'
ID154575
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: 0.170) question?
Stock #IGL01822
Quality Score
Status
Chromosome4
Chromosomal Location134343181-134354484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134348637 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 192 (Y192N)
Ref Sequence ENSEMBL: ENSMUSP00000101499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081094] [ENSMUST00000105872] [ENSMUST00000105873] [ENSMUST00000105874]
Predicted Effect probably damaging
Transcript: ENSMUST00000081094
AA Change: Y161N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079875
Gene: ENSMUSG00000028836
AA Change: Y161N

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105872
AA Change: Y161N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101498
Gene: ENSMUSG00000028836
AA Change: Y161N

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105873
AA Change: Y192N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101499
Gene: ENSMUSG00000028836
AA Change: Y192N

DomainStartEndE-ValueType
Pfam:Cation_efflux 74 311 3.1e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105874
AA Change: Y241N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836
AA Change: Y241N

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cald1 A T 6: 34,753,572 T269S probably damaging Het
Cntnap5c T A 17: 58,055,705 I351N probably damaging Het
Dhcr7 T A 7: 143,845,499 I296N probably damaging Het
Dnah17 A G 11: 118,081,993 F2038S probably damaging Het
Dsel A G 1: 111,861,896 L303P probably damaging Het
Fabp12 G A 3: 10,246,022 R127* probably null Het
Fgf12 A T 16: 28,189,599 S150T possibly damaging Het
Fkbp15 A G 4: 62,352,504 M32T probably benign Het
Lrrc66 G A 5: 73,629,968 T13I probably benign Het
Mmgt2 T C 11: 62,665,006 V60A possibly damaging Het
Neb G T 2: 52,258,746 S2596R possibly damaging Het
Nfkbib T C 7: 28,761,709 D171G probably benign Het
Oas1a T C 5: 120,899,214 E250G probably benign Het
Olfr1197 A T 2: 88,728,792 I269N probably benign Het
Olfr134 C A 17: 38,175,448 D121E probably damaging Het
Rnf182 T C 13: 43,668,032 C20R probably damaging Het
Scn3a T C 2: 65,495,264 K970E probably damaging Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Vmn2r100 T A 17: 19,504,838 C10S probably null Het
Vmn2r61 A T 7: 42,300,706 H850L probably benign Het
Vmn2r87 T C 10: 130,472,122 Y749C probably damaging Het
Wnt5b A T 6: 119,433,472 C336S probably damaging Het
Zfp398 G A 6: 47,866,271 R287Q probably damaging Het
Other mutations in Slc30a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Slc30a2 APN 4 134343300 missense probably damaging 0.96
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 On2014-02-04