Incidental Mutation 'R5238:Slc39a1'
ID 400476
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 042809-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # R5238 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90155512-90160923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90156702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 86 (L86Q)
Ref Sequence ENSEMBL: ENSMUSP00000076012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015467] [ENSMUST00000029545]
AlphaFold Q9QZ03
Predicted Effect probably null
Transcript: ENSMUST00000015467
AA Change: L86Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076012
Gene: ENSMUSG00000052310
AA Change: L86Q

DomainStartEndE-ValueType
Pfam:Zip 27 320 4.4e-60 PFAM
Predicted Effect probably null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149422
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b T A 12: 70,210,142 (GRCm39) probably null Het
Adamtsl5 C T 10: 80,181,192 (GRCm39) G63D probably damaging Het
Armc9 T A 1: 86,127,569 (GRCm39) M68K probably benign Het
Atad2 A C 15: 57,971,733 (GRCm39) H381Q possibly damaging Het
Bclaf1 T G 10: 20,208,130 (GRCm39) probably benign Het
Ccdc188 A G 16: 18,037,038 (GRCm39) E238G probably damaging Het
Cldn19 G T 4: 119,112,930 (GRCm39) C54F probably damaging Het
Clip1 T C 5: 123,785,946 (GRCm39) D246G probably damaging Het
Col20a1 T C 2: 180,640,379 (GRCm39) V512A probably damaging Het
Cyfip1 G T 7: 55,541,779 (GRCm39) A355S probably benign Het
Dffa T G 4: 149,188,760 (GRCm39) L18R probably benign Het
Dnah8 G A 17: 31,009,891 (GRCm39) E3761K probably damaging Het
Dusp10 A G 1: 183,769,210 (GRCm39) T59A possibly damaging Het
Eed T C 7: 89,626,173 (GRCm39) S67G probably benign Het
Fam181a C T 12: 103,282,392 (GRCm39) A99V probably benign Het
Gm12185 G A 11: 48,799,044 (GRCm39) T483I possibly damaging Het
Htr3b A T 9: 48,848,542 (GRCm39) C234* probably null Het
Kidins220 C A 12: 25,053,009 (GRCm39) T433K probably benign Het
Man2a1 T C 17: 64,943,502 (GRCm39) Y186H probably damaging Het
Mcm9 G T 10: 53,506,093 (GRCm39) S60R possibly damaging Het
Mst1r T A 9: 107,784,773 (GRCm39) C144S probably damaging Het
Nckap5 A G 1: 125,955,461 (GRCm39) C364R probably damaging Het
Nptx2 T C 5: 144,493,041 (GRCm39) I376T probably damaging Het
Or2a14 T C 6: 43,130,961 (GRCm39) S241P probably damaging Het
Otogl A T 10: 107,604,834 (GRCm39) C2191S probably damaging Het
Plxdc2 T A 2: 16,655,026 (GRCm39) F208L probably damaging Het
Robo3 A C 9: 37,328,175 (GRCm39) Y1339D probably damaging Het
Rsph9 G T 17: 46,446,008 (GRCm39) Y42* probably null Het
Slfn8 T C 11: 82,904,214 (GRCm39) D392G probably damaging Het
Tiprl A G 1: 165,043,337 (GRCm39) V263A probably benign Het
Tmub2 A G 11: 102,175,820 (GRCm39) probably benign Het
Trpm1 T A 7: 63,918,702 (GRCm39) F681I probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uba3 A T 6: 97,178,896 (GRCm39) C68* probably null Het
Vmn1r158 T A 7: 22,489,799 (GRCm39) M137L probably benign Het
Vmn1r50 C T 6: 90,084,465 (GRCm39) A70V possibly damaging Het
Wwc1 T C 11: 35,766,723 (GRCm39) K511E probably benign Het
Zfp600 T C 4: 146,131,741 (GRCm39) probably null Het
Zng1 G T 19: 24,897,994 (GRCm39) T382K probably damaging Het
Other mutations in Slc39a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2146:Slc39a1 UTSW 3 90,156,757 (GRCm39) missense probably benign 0.06
R6331:Slc39a1 UTSW 3 90,159,588 (GRCm39) missense possibly damaging 0.91
R6867:Slc39a1 UTSW 3 90,156,759 (GRCm39) missense probably damaging 0.96
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'- ACCATGAAGCTTCAGGTGAGTC -3'
(R):5'- AGGTGACCCCTGAAGAGATC -3'

Sequencing Primer
(F):5'- CCATGAAGCTTCAGGTGAGTCTTTTC -3'
(R):5'- GTGACCCCTGAAGAGATCTATATAAC -3'
Posted On 2016-07-06