Incidental Mutation 'IGL01863:Slc30a1'
ID178410
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 #IGL01863
Quality Score
Status
Chromosome1
Chromosomal Location191906767-191913247 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 191909084 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 281 (C281S)
Ref Sequence ENSEMBL: ENSMUSP00000042410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044954] [ENSMUST00000161756]
Predicted Effect probably damaging
Transcript: ENSMUST00000044954
AA Change: C281S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042410
Gene: ENSMUSG00000037434
AA Change: C281S

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 probably benign
Transcript: ENSMUST00000161756
SMART Domains Protein: ENSMUSP00000124176
Gene: ENSMUSG00000037434

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,339,911 I326F possibly damaging Het
Aimp1 T C 3: 132,672,092 T171A probably benign Het
Armc4 T C 18: 7,222,617 T551A probably damaging Het
Ash1l T A 3: 88,985,506 L1564* probably null Het
Atp1a1 G T 3: 101,591,889 Y131* probably null Het
Celsr2 T C 3: 108,394,022 E2686G probably benign Het
Cyp4f18 A G 8: 71,989,926 V395A possibly damaging Het
Ephb2 T C 4: 136,659,777 Q713R probably benign Het
Esf1 A T 2: 140,120,679 M824K probably benign Het
Fam46c C T 3: 100,472,664 D259N probably benign Het
Fat4 T C 3: 38,970,619 probably benign Het
Gem A G 4: 11,705,980 I23V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Il6st A G 13: 112,504,210 E779G possibly damaging Het
Lama3 T A 18: 12,419,936 probably benign Het
Lipi A C 16: 75,550,226 I435R probably damaging Het
Lrrc6 A T 15: 66,396,974 probably benign Het
Olfr291 T C 7: 84,856,411 L14P probably damaging Het
Omg C T 11: 79,502,224 M269I probably benign Het
Optn A T 2: 5,021,487 probably benign Het
Pex1 A G 5: 3,606,066 T298A probably benign Het
Rab27b T A 18: 69,989,554 R111S probably damaging Het
Rhbdf1 T G 11: 32,213,484 E329D probably benign Het
Slc2a13 T C 15: 91,516,492 I176V probably benign Het
Slc4a7 T A 14: 14,762,430 C509S probably damaging Het
Slfn9 T C 11: 82,981,325 R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 I782T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps33b T C 7: 80,274,311 probably null Het
Wrap73 A G 4: 154,145,333 I54V probably benign Het
Other mutations in Slc30a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Slc30a1 APN 1 191909079 missense probably damaging 1.00
IGL02451:Slc30a1 APN 1 191907329 missense possibly damaging 0.95
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 On2014-05-07