Incidental Mutation 'R5359:Slc30a1'
ID 424218
Institutional Source Beutler Lab
Gene Symbol Slc30a1
Ensembl Gene ENSMUSG00000037434
Gene Name solute carrier family 30 (zinc transporter), member 1
Synonyms Znt1, C130040I11Rik
MMRRC Submission 042938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5359 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 191638879-191645359 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 191641865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 504 (*504R)
Ref Sequence ENSEMBL: ENSMUSP00000042410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044954] [ENSMUST00000161756]
AlphaFold Q60738
Predicted Effect probably null
Transcript: ENSMUST00000044954
AA Change: *504R
SMART Domains Protein: ENSMUSP00000042410
Gene: ENSMUSG00000037434
AA Change: *504R

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5b1 T A 19: 5,619,126 (GRCm39) I182N possibly damaging Het
Arap2 A T 5: 62,840,762 (GRCm39) C701* probably null Het
Bcr T A 10: 75,001,917 (GRCm39) F940L probably damaging Het
Cav2 A T 6: 17,287,064 (GRCm39) probably benign Het
Cdk2 T C 10: 128,539,857 (GRCm39) probably benign Het
Clic4 G A 4: 134,944,446 (GRCm39) A243V probably benign Het
Dap3 A T 3: 88,838,296 (GRCm39) V99D probably damaging Het
Dennd5a T C 7: 109,497,169 (GRCm39) E1110G probably damaging Het
Dhx30 T C 9: 109,922,203 (GRCm39) N160D probably damaging Het
Dnai7 T G 6: 145,142,618 (GRCm39) T120P probably damaging Het
Dock9 A G 14: 121,890,472 (GRCm39) M268T possibly damaging Het
Dspp T A 5: 104,323,752 (GRCm39) D298E probably damaging Het
Elane A G 10: 79,722,870 (GRCm39) E92G probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gbf1 T C 19: 46,272,164 (GRCm39) probably null Het
Gm1968 A T 16: 29,777,617 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,265,004 (GRCm39) V2729E probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Iqgap1 T C 7: 80,416,707 (GRCm39) T106A probably benign Het
Kcnj6 G C 16: 94,633,312 (GRCm39) Y248* probably null Het
Mllt3 A G 4: 87,759,164 (GRCm39) S295P probably benign Het
Or2w1b A C 13: 21,300,437 (GRCm39) T192P probably damaging Het
Pex11b G A 3: 96,551,229 (GRCm39) C224Y probably damaging Het
Pik3c2g A G 6: 139,599,121 (GRCm39) Y79C probably damaging Het
Plcz1 T C 6: 139,974,178 (GRCm39) Y88C probably damaging Het
Pole A G 5: 110,480,354 (GRCm39) N99S probably benign Het
Pyroxd1 T G 6: 142,307,717 (GRCm39) Y496D probably damaging Het
Rasef A G 4: 73,689,565 (GRCm39) L68P probably damaging Het
Rgs13 T A 1: 144,015,322 (GRCm39) M132L probably damaging Het
RP24-187P11.4 T G 9: 109,349,944 (GRCm39) noncoding transcript Het
Rsph4a A G 10: 33,784,232 (GRCm39) T285A probably benign Het
Ryr3 A T 2: 112,606,186 (GRCm39) probably null Het
Spcs1 T C 14: 30,722,074 (GRCm39) R156G probably damaging Het
Supv3l1 A G 10: 62,268,178 (GRCm39) F556L probably damaging Het
Thumpd2 C T 17: 81,334,206 (GRCm39) V461M probably benign Het
Timm50 A G 7: 28,007,592 (GRCm39) L158P probably damaging Het
Tnrc6c T C 11: 117,649,731 (GRCm39) silent Het
Ttn G A 2: 76,726,147 (GRCm39) Q1807* probably null Het
Zdhhc14 A G 17: 5,543,821 (GRCm39) I34V probably benign Het
Zgrf1 T A 3: 127,394,814 (GRCm39) M506K possibly damaging Het
Other mutations in Slc30a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Slc30a1 APN 1 191,641,191 (GRCm39) missense probably damaging 1.00
IGL01863:Slc30a1 APN 1 191,641,196 (GRCm39) missense probably damaging 1.00
IGL02451:Slc30a1 APN 1 191,639,441 (GRCm39) missense possibly damaging 0.95
R0416:Slc30a1 UTSW 1 191,641,838 (GRCm39) missense probably benign 0.23
R0610:Slc30a1 UTSW 1 191,641,536 (GRCm39) missense probably damaging 1.00
R2513:Slc30a1 UTSW 1 191,639,674 (GRCm39) missense possibly damaging 0.93
R4067:Slc30a1 UTSW 1 191,639,401 (GRCm39) missense probably damaging 1.00
R4782:Slc30a1 UTSW 1 191,641,160 (GRCm39) missense probably benign 0.24
R5473:Slc30a1 UTSW 1 191,641,734 (GRCm39) missense possibly damaging 0.88
R5790:Slc30a1 UTSW 1 191,640,997 (GRCm39) missense probably benign 0.00
R5984:Slc30a1 UTSW 1 191,639,212 (GRCm39) missense probably damaging 1.00
R7282:Slc30a1 UTSW 1 191,641,544 (GRCm39) missense probably benign 0.08
R7955:Slc30a1 UTSW 1 191,639,395 (GRCm39) missense probably damaging 1.00
R9127:Slc30a1 UTSW 1 191,639,342 (GRCm39) missense probably damaging 1.00
Z1177:Slc30a1 UTSW 1 191,639,639 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGCATTCTGGGAAGGATGCAG -3'
(R):5'- CTGGCTTTCAAACGTGTTCC -3'

Sequencing Primer
(F):5'- TGCAGAGAAGGCGCCAAC -3'
(R):5'- AGGCTGCAATGTAGCACTCTC -3'
Posted On 2016-08-04