Incidental Mutation 'R5984:Slc30a1'
ID 481541
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 043251-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5984 (G1)
Quality Score 193.009
Status Not validated
Chromosome 1
Chromosomal Location 191638879-191645359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 191639212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 32 (T32A)
Ref Sequence ENSEMBL: ENSMUSP00000042410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044954] [ENSMUST00000161756]
AlphaFold Q60738
Predicted Effect probably damaging
Transcript: ENSMUST00000044954
AA Change: T32A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042410
Gene: ENSMUSG00000037434
AA Change: T32A

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,439,165 (GRCm39) L130F probably benign Het
Alox12 T C 11: 70,137,881 (GRCm39) T420A possibly damaging Het
Ano5 T C 7: 51,243,412 (GRCm39) I795T probably damaging Het
Atpsckmt C T 15: 31,617,065 (GRCm39) R99* probably null Het
Crlf2 G A 5: 109,703,469 (GRCm39) P92L probably damaging Het
Dgat1 T C 15: 76,386,458 (GRCm39) Y492C probably damaging Het
Dna2 G C 10: 62,798,285 (GRCm39) probably null Het
Dst A G 1: 34,211,344 (GRCm39) H982R probably benign Het
F13b A G 1: 139,435,950 (GRCm39) D252G probably damaging Het
Fgfr3 A T 5: 33,887,049 (GRCm39) E151V probably damaging Het
Gabpb1 T C 2: 126,488,573 (GRCm39) T264A probably damaging Het
Gemin5 T C 11: 58,047,587 (GRCm39) E329G probably damaging Het
Git1 C T 11: 77,397,309 (GRCm39) P721S possibly damaging Het
Hcn3 T C 3: 89,055,570 (GRCm39) E559G probably benign Het
Invs G A 4: 48,421,674 (GRCm39) A769T probably benign Het
Ism2 T A 12: 87,333,809 (GRCm39) T79S possibly damaging Het
Lamb1 G A 12: 31,377,773 (GRCm39) E1673K possibly damaging Het
Lmtk2 T A 5: 144,111,656 (GRCm39) L792H probably benign Het
Lnpk A T 2: 74,352,543 (GRCm39) S380T probably benign Het
Mff A G 1: 82,708,848 (GRCm39) I66V probably benign Het
Mtor A G 4: 148,623,284 (GRCm39) K2045E probably benign Het
Mycbp2 C A 14: 103,364,120 (GRCm39) W4393L probably damaging Het
Or1e31 T A 11: 73,690,407 (GRCm39) M59L possibly damaging Het
Or8k32 A T 2: 86,368,512 (GRCm39) V249E probably damaging Het
Pcdha5 A G 18: 37,094,733 (GRCm39) D414G probably damaging Het
Pknox2 T C 9: 36,835,022 (GRCm39) E149G probably damaging Het
Plxdc2 A G 2: 16,665,666 (GRCm39) R240G probably benign Het
Polr3d A T 14: 70,676,927 (GRCm39) F389Y possibly damaging Het
Prex1 T G 2: 166,427,664 (GRCm39) D826A probably damaging Het
Prss50 T A 9: 110,691,454 (GRCm39) S253T probably damaging Het
Ptgfrn T C 3: 100,957,459 (GRCm39) D705G probably damaging Het
Ptpn21 T A 12: 98,655,335 (GRCm39) N544I probably damaging Het
Rbm5 G A 9: 107,622,141 (GRCm39) P611L probably damaging Het
Rev3l A T 10: 39,618,685 (GRCm39) probably benign Het
Rnf139 T C 15: 58,770,595 (GRCm39) Y207H probably benign Het
Scn11a C T 9: 119,613,082 (GRCm39) R836H probably benign Het
Smad4 T A 18: 73,810,982 (GRCm39) M1L probably benign Het
Sos1 T C 17: 80,759,561 (GRCm39) D190G possibly damaging Het
Sptbn1 C T 11: 30,068,464 (GRCm39) D1677N probably damaging Het
Tmem132e G A 11: 82,335,923 (GRCm39) D1002N probably damaging Het
Usp8 C A 2: 126,584,401 (GRCm39) Q526K probably benign Het
Wt1 A G 2: 105,002,597 (GRCm39) S488G probably benign Het
Zbtb43 A G 2: 33,344,272 (GRCm39) S318P probably benign 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
R5359:Slc30a1 UTSW 1 191,641,865 (GRCm39) makesense probably null
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
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'- TTGTAAACCGTCTGCAAAGGAG -3'
(R):5'- AAGATGGCGTTCACCAGTG -3'

Sequencing Primer
(F):5'- AGCGCTTCGGTCCGATG -3'
(R):5'- GTTCACCAGTGCGCCCATC -3'
Posted On 2017-06-26