Incidental Mutation 'R4041:Slc39a5'
ID 313886
Institutional Source Beutler Lab
Gene Symbol Slc39a5
Ensembl Gene ENSMUSG00000039878
Gene Name solute carrier family 39 (metal ion transporter), member 5
Synonyms 1810013D05Rik, 2010205A06Rik, Zip5
MMRRC Submission 040966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4041 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128231800-128237098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128232337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 488 (M488V)
Ref Sequence ENSEMBL: ENSMUSP00000131736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014642] [ENSMUST00000026439] [ENSMUST00000042666] [ENSMUST00000164199] [ENSMUST00000167859] [ENSMUST00000219131] [ENSMUST00000218858]
AlphaFold Q9D856
Predicted Effect probably benign
Transcript: ENSMUST00000014642
SMART Domains Protein: ENSMUSP00000014642
Gene: ENSMUSG00000014498

DomainStartEndE-ValueType
ANK 7 36 4.44e2 SMART
ANK 40 69 6.55e-5 SMART
ANK 73 102 1.03e-2 SMART
ANK 106 135 1.5e1 SMART
ANK 139 168 5.49e-7 SMART
ANK 172 201 3.01e-4 SMART
ANK 205 234 1.2e-3 SMART
ANK 238 267 2.62e-4 SMART
ANK 271 301 9.78e-4 SMART
ANK 305 334 3.85e-2 SMART
ANK 338 367 5.62e-4 SMART
ANK 371 402 1.55e2 SMART
ANK 422 451 2.16e-5 SMART
ANK 455 484 3.28e-5 SMART
ANK 488 545 2.79e1 SMART
ANK 549 578 5.45e-2 SMART
ANK 584 613 1.84e1 SMART
ANK 617 646 3.85e-2 SMART
ANK 651 682 2.1e-3 SMART
ANK 687 716 6.76e-7 SMART
ANK 720 749 1.07e0 SMART
ANK 753 784 2.92e-2 SMART
ANK 790 819 1.12e-3 SMART
ANK 822 853 9.75e1 SMART
ANK 857 886 1.99e-4 SMART
ANK 890 920 5.09e-2 SMART
ANK 924 953 2.54e-2 SMART
ANK 960 989 1.34e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026439
SMART Domains Protein: ENSMUSP00000026439
Gene: ENSMUSG00000025374

DomainStartEndE-ValueType
Pfam:tRNA_anti-codon 23 105 1.7e-9 PFAM
low complexity region 131 148 N/A INTRINSIC
low complexity region 161 178 N/A INTRINSIC
low complexity region 185 203 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000042666
AA Change: M488V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037753
Gene: ENSMUSG00000039878
AA Change: M488V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 50 61 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 133 152 N/A INTRINSIC
Pfam:Zip 208 522 2.3e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164199
SMART Domains Protein: ENSMUSP00000128634
Gene: ENSMUSG00000025374

DomainStartEndE-ValueType
Pfam:tRNA_anti-codon 23 105 1.7e-9 PFAM
low complexity region 131 148 N/A INTRINSIC
low complexity region 161 178 N/A INTRINSIC
low complexity region 185 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166577
SMART Domains Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498

DomainStartEndE-ValueType
ANK 18 48 5.09e-2 SMART
ANK 52 81 2.54e-2 SMART
ANK 88 117 1.34e-1 SMART
Blast:ANK 121 148 3e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167226
Predicted Effect possibly damaging
Transcript: ENSMUST00000167859
AA Change: M488V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131736
Gene: ENSMUSG00000039878
AA Change: M488V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 50 61 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 133 152 N/A INTRINSIC
Pfam:Zip 208 522 3.2e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219222
Predicted Effect probably benign
Transcript: ENSMUST00000218858
Meta Mutation Damage Score 0.5230 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered zinc homeostasis and increased susceptibility to zinc-induced pancretitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf5 T C 7: 44,462,921 (GRCm39) T68A possibly damaging Het
Cage1 A G 13: 38,203,153 (GRCm39) L637P possibly damaging Het
Cfl1 T C 19: 5,542,556 (GRCm39) I12T probably benign Het
Clcn1 A G 6: 42,286,902 (GRCm39) E653G probably damaging Het
Cntnap5a C A 1: 116,112,129 (GRCm39) P473Q probably benign Het
Dnah7b T C 1: 46,120,655 (GRCm39) S91P probably benign Het
Fcgbp A G 7: 27,813,404 (GRCm39) Q2313R probably benign Het
Gpc5 A T 14: 115,370,628 (GRCm39) Q151L probably damaging Het
Hexim1 A G 11: 103,007,932 (GRCm39) E62G probably benign Het
Ifna13 A G 4: 88,562,228 (GRCm39) F132S probably benign Het
Irgm2 A G 11: 58,110,956 (GRCm39) M228V probably benign Het
Klhl41 A G 2: 69,501,054 (GRCm39) M172V probably benign Het
Klk1 A T 7: 43,878,986 (GRCm39) N260I probably damaging Het
Krit1 G C 5: 3,859,642 (GRCm39) R110P probably damaging Het
Krt7 T A 15: 101,321,161 (GRCm39) probably null Het
Lrrn4cl T A 19: 8,829,468 (GRCm39) Y149N probably damaging Het
Ltbp3 G T 19: 5,801,899 (GRCm39) C739F possibly damaging Het
Mbnl2 C T 14: 120,626,486 (GRCm39) H239Y probably damaging Het
Obscn G A 11: 58,942,357 (GRCm39) R4942* probably null Het
Or2bd2 T C 7: 6,443,688 (GRCm39) L263P probably damaging Het
R3hcc1 A G 14: 69,944,111 (GRCm39) S45P probably damaging Het
Ryr1 A T 7: 28,785,356 (GRCm39) H1778Q possibly damaging Het
Scyl2 T A 10: 89,485,914 (GRCm39) K558N probably damaging Het
Shank1 G A 7: 43,991,586 (GRCm39) V677M unknown Het
Styk1 A T 6: 131,289,880 (GRCm39) probably null Het
Styxl2 T C 1: 165,927,680 (GRCm39) D644G probably benign Het
Usp32 A G 11: 84,908,565 (GRCm39) V1047A probably benign Het
Wnt3a G T 11: 59,140,470 (GRCm39) H349N probably damaging Het
Zbtb39 T C 10: 127,579,423 (GRCm39) C666R probably damaging Het
Zfp420 T C 7: 29,575,427 (GRCm39) M549T probably benign Het
Other mutations in Slc39a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02535:Slc39a5 APN 10 128,235,199 (GRCm39) missense probably benign 0.00
IGL02666:Slc39a5 APN 10 128,234,324 (GRCm39) missense probably damaging 1.00
R0305:Slc39a5 UTSW 10 128,234,265 (GRCm39) unclassified probably benign
R0350:Slc39a5 UTSW 10 128,232,619 (GRCm39) critical splice donor site probably null
R0437:Slc39a5 UTSW 10 128,235,716 (GRCm39) missense possibly damaging 0.94
R1401:Slc39a5 UTSW 10 128,233,610 (GRCm39) missense probably damaging 1.00
R2025:Slc39a5 UTSW 10 128,234,280 (GRCm39) missense probably damaging 1.00
R2025:Slc39a5 UTSW 10 128,234,279 (GRCm39) missense probably damaging 1.00
R2286:Slc39a5 UTSW 10 128,231,929 (GRCm39) missense probably benign 0.00
R4649:Slc39a5 UTSW 10 128,233,136 (GRCm39) missense probably benign 0.00
R4776:Slc39a5 UTSW 10 128,232,918 (GRCm39) missense probably damaging 0.98
R4890:Slc39a5 UTSW 10 128,234,316 (GRCm39) missense probably benign 0.13
R5911:Slc39a5 UTSW 10 128,235,812 (GRCm39) missense probably damaging 1.00
R6703:Slc39a5 UTSW 10 128,233,651 (GRCm39) missense probably damaging 1.00
R8428:Slc39a5 UTSW 10 128,232,884 (GRCm39) missense probably damaging 1.00
R8997:Slc39a5 UTSW 10 128,232,348 (GRCm39) missense probably damaging 0.98
R9487:Slc39a5 UTSW 10 128,233,628 (GRCm39) missense probably damaging 1.00
R9488:Slc39a5 UTSW 10 128,233,628 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTACGTTTGAGGCAAGACC -3'
(R):5'- TTTGCCATGCTGCTTCAGG -3'

Sequencing Primer
(F):5'- GGCAAGACCTCACTGTCTAG -3'
(R):5'- CTGCTTCAGGAAGGGTTATCC -3'
Posted On 2015-04-30