Incidental Mutation 'IGL02451:Slc30a1'
ID293666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc30a1
Ensembl Gene ENSMUSG00000037434
Gene Namesolute carrier family 30 (zinc transporter), member 1
SynonymsZnt1, C130040I11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02451
Quality Score
Status
Chromosome1
Chromosomal Location191906767-191913247 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 191907329 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 108 (H108R)
Ref Sequence ENSEMBL: ENSMUSP00000042410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044954] [ENSMUST00000161756]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044954
AA Change: H108R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042410
Gene: ENSMUSG00000037434
AA Change: H108R

DomainStartEndE-ValueType
Pfam:Cation_efflux 11 278 7.3e-43 PFAM
transmembrane domain 306 328 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069573
SMART Domains Protein: ENSMUSP00000063209
Gene: ENSMUSG00000055833

DomainStartEndE-ValueType
low complexity region 106 117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139827
SMART Domains Protein: ENSMUSP00000136990
Gene: ENSMUSG00000055833

DomainStartEndE-ValueType
low complexity region 106 117 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161756
AA Change: H25R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124176
Gene: ENSMUSG00000037434
AA Change: H25R

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 119 1.5e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality soon after implantation with embryonic growth arrest at the egg cylinder stage. Embryos from heterozygous females on a zinc deficient diet develop abnormally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,563,547 T126P probably damaging Het
Asic2 T C 11: 80,891,737 probably benign Het
B430305J03Rik A G 3: 61,364,141 probably benign Het
Bbs7 A G 3: 36,610,592 F47L possibly damaging Het
BC017158 A G 7: 128,276,410 L257P probably damaging Het
Bcl2l14 G T 6: 134,423,841 G75V probably benign Het
Btnl4 T C 17: 34,475,927 H4R probably benign Het
Champ1 C A 8: 13,878,739 P299Q probably damaging Het
Cldnd2 A G 7: 43,441,658 K5E probably benign Het
Ctr9 T A 7: 111,043,424 L401* probably null Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Enpp4 A T 17: 44,101,424 L298H probably damaging Het
Git1 T C 11: 77,500,687 C222R possibly damaging Het
Gpam T C 19: 55,088,203 T189A probably damaging Het
Hgfac T G 5: 35,043,814 probably null Het
Hivep3 T A 4: 120,133,965 S2221T probably damaging Het
Ifi47 T C 11: 49,095,777 Y124H probably damaging Het
Il1a T C 2: 129,306,655 E45G probably damaging Het
Itga11 T A 9: 62,735,353 I186N probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Mapk13 A G 17: 28,776,413 T203A probably damaging Het
Mrpl37 T A 4: 107,066,642 I52F probably damaging Het
Nr1i2 A G 16: 38,249,292 F417L probably benign Het
Olfr1129 T A 2: 87,575,232 S49R probably benign Het
Olfr811 G A 10: 129,801,833 Q231* probably null Het
Osbpl1a T C 18: 12,914,493 probably benign Het
Parg C T 14: 32,242,229 T112M probably damaging Het
Pifo T A 3: 106,014,504 E34D probably benign Het
Pou6f1 T C 15: 100,579,940 T166A possibly damaging Het
Prtg A G 9: 72,856,999 I585V possibly damaging Het
Ptpru T G 4: 131,776,775 probably benign Het
Rab6a T C 7: 100,636,763 probably null Het
Rnf207 C T 4: 152,312,412 R425H probably benign Het
Skiv2l2 C T 13: 112,891,347 V660M probably damaging Het
Slc27a2 A G 2: 126,578,992 M468V probably benign Het
Sned1 A G 1: 93,236,208 probably benign Het
Sptbn4 A T 7: 27,365,589 F2095Y probably null Het
Sspo A T 6: 48,460,303 probably benign Het
Tbx19 A G 1: 165,140,171 S336P probably benign Het
Tmem101 T A 11: 102,153,293 D256V probably damaging Het
Trbv20 T G 6: 41,188,276 L2V unknown Het
Trpc7 A G 13: 56,822,461 S382P probably damaging Het
Uhmk1 T C 1: 170,212,526 T91A possibly damaging Het
Vmn2r10 T A 5: 108,995,922 R721* probably null Het
Vmn2r94 T A 17: 18,258,191 Y98F possibly damaging Het
Zcchc11 C A 4: 108,529,276 Y1114* probably null Het
Zfp532 A G 18: 65,623,601 R202G probably damaging Het
Zfp827 T C 8: 79,060,972 S256P probably damaging Het
Zzef1 T C 11: 72,901,388 I2266T probably damaging Het
Other mutations in Slc30a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Slc30a1 APN 1 191909079 missense probably damaging 1.00
IGL01863:Slc30a1 APN 1 191909084 missense probably damaging 1.00
R0416:Slc30a1 UTSW 1 191909726 missense probably benign 0.23
R0610:Slc30a1 UTSW 1 191909424 missense probably damaging 1.00
R2513:Slc30a1 UTSW 1 191907562 missense possibly damaging 0.93
R4067:Slc30a1 UTSW 1 191907289 missense probably damaging 1.00
R4782:Slc30a1 UTSW 1 191909048 missense probably benign 0.24
R5359:Slc30a1 UTSW 1 191909753 makesense probably null
R5473:Slc30a1 UTSW 1 191909622 missense possibly damaging 0.88
R5790:Slc30a1 UTSW 1 191908885 missense probably benign 0.00
R5984:Slc30a1 UTSW 1 191907100 missense probably damaging 1.00
R7282:Slc30a1 UTSW 1 191909432 missense probably benign 0.08
R7955:Slc30a1 UTSW 1 191907283 missense probably damaging 1.00
Z1177:Slc30a1 UTSW 1 191907527 frame shift probably null
Posted On2015-04-16