Incidental Mutation 'R6867:Slc39a1'
ID 535963
Institutional Source Beutler Lab
Gene Symbol Slc39a1
Ensembl Gene ENSMUSG00000052310
Gene Name solute carrier family 39 (zinc transporter), member 1
Synonyms Zirtl, zip1
MMRRC Submission 045028-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # R6867 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90155512-90160923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90156759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 105 (V105E)
Ref Sequence ENSEMBL: ENSMUSP00000076012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015467] [ENSMUST00000029545]
AlphaFold Q9QZ03
Predicted Effect probably damaging
Transcript: ENSMUST00000015467
AA Change: V105E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076012
Gene: ENSMUSG00000052310
AA Change: V105E

DomainStartEndE-ValueType
Pfam:Zip 27 320 4.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029545
SMART Domains Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936

DomainStartEndE-ValueType
Pfam:TORC_N 18 72 1.8e-20 PFAM
low complexity region 127 141 N/A INTRINSIC
Pfam:TORC_M 168 323 3.7e-71 PFAM
low complexity region 335 384 N/A INTRINSIC
low complexity region 391 416 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 484 494 N/A INTRINSIC
low complexity region 517 528 N/A INTRINSIC
Pfam:TORC_C 614 691 4.3e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: On a zinc-adequate diet, homozygous null mutant mice exhibit normal fertility and normal embryonic and postnatal development. E14 embryos of dams fed a zinc-deficient diet from day E8 have <3.3-fold the incidence of abnormalities seen in wild-type embryos of zinc-deprived wild-type mothers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apold1 T C 6: 134,961,019 (GRCm39) S158P possibly damaging Het
Cep162 A T 9: 87,099,134 (GRCm39) L788* probably null Het
Cyp7b1 T C 3: 18,151,394 (GRCm39) Y273C probably damaging Het
Dlx1 C A 2: 71,361,353 (GRCm39) N122K probably damaging Het
Dock10 A T 1: 80,508,976 (GRCm39) I1605K probably damaging Het
Enox1 T C 14: 77,936,739 (GRCm39) probably null Het
F3 T C 3: 121,523,020 (GRCm39) S77P possibly damaging Het
Fam186a T A 15: 99,843,731 (GRCm39) I838L unknown Het
Flrt2 T C 12: 95,746,156 (GRCm39) F165L probably damaging Het
Gcgr T A 11: 120,427,295 (GRCm39) V135E possibly damaging Het
Gm6741 T C 17: 91,544,339 (GRCm39) L34P probably benign Het
Gna13 T C 11: 109,286,948 (GRCm39) M257T possibly damaging Het
Hsd11b2 G A 8: 106,248,949 (GRCm39) R147H probably benign Het
Hydin A G 8: 111,266,434 (GRCm39) Y2865C probably benign Het
Igdcc3 A G 9: 65,090,320 (GRCm39) N610D probably damaging Het
Ipp T A 4: 116,367,606 (GRCm39) probably null Het
Kdm5d A G Y: 927,425 (GRCm39) T682A probably benign Het
Megf8 A G 7: 25,030,460 (GRCm39) Y471C probably benign Het
Mprip T C 11: 59,640,456 (GRCm39) probably null Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Myrfl T A 10: 116,684,187 (GRCm39) R179* probably null Het
Nek1 C A 8: 61,525,364 (GRCm39) Q601K possibly damaging Het
Neurod4 C G 10: 130,106,583 (GRCm39) K230N probably damaging Het
Or1ab2 C T 8: 72,863,707 (GRCm39) T99I possibly damaging Het
Or8u10 A G 2: 85,916,082 (GRCm39) I13T possibly damaging Het
Orc3 A G 4: 34,605,539 (GRCm39) L114P probably damaging Het
Rag1 T C 2: 101,472,292 (GRCm39) D950G probably damaging Het
Rasgrp2 G A 19: 6,463,213 (GRCm39) S504N probably benign Het
Rgl2 A G 17: 34,151,661 (GRCm39) D235G probably benign Het
Slc35e2 A G 4: 155,703,157 (GRCm39) E390G probably benign Het
Tesk2 T A 4: 116,658,995 (GRCm39) C291S probably damaging Het
Tmco3 T A 8: 13,363,927 (GRCm39) F83Y probably damaging Het
Trim25 T C 11: 88,901,713 (GRCm39) I336T probably benign Het
Ush2a A G 1: 188,643,170 (GRCm39) I4177M probably damaging Het
Veph1 T A 3: 66,162,458 (GRCm39) T67S probably damaging Het
Vmn2r43 A G 7: 8,258,125 (GRCm39) F363L probably benign Het
Vps28 A T 15: 76,506,871 (GRCm39) I109N probably damaging Het
Vps50 A G 6: 3,517,835 (GRCm39) D91G probably benign Het
Wdr20 T C 12: 110,760,133 (GRCm39) F340L probably benign Het
Wdr95 A G 5: 149,504,388 (GRCm39) probably null Het
Zfand6 A G 7: 84,265,122 (GRCm39) V193A probably damaging Het
Zfp703 C A 8: 27,468,668 (GRCm39) P111T probably damaging Het
Other mutations in Slc39a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2146:Slc39a1 UTSW 3 90,156,757 (GRCm39) missense probably benign 0.06
R5238:Slc39a1 UTSW 3 90,156,702 (GRCm39) missense probably null 1.00
R6331:Slc39a1 UTSW 3 90,159,588 (GRCm39) missense possibly damaging 0.91
R7231:Slc39a1 UTSW 3 90,159,097 (GRCm39) missense probably benign 0.08
R7412:Slc39a1 UTSW 3 90,156,396 (GRCm39) missense probably damaging 0.98
Z1176:Slc39a1 UTSW 3 90,156,288 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACCATGAAGCTTCAGGTGAG -3'
(R):5'- AGGTGACCCCTGAAGAGATC -3'

Sequencing Primer
(F):5'- CCATGAAGCTTCAGGTGAGTCTTTTC -3'
(R):5'- GTGACCCCTGAAGAGATCTATATAAC -3'
Posted On 2018-10-18