Incidental Mutation 'IGL01645:Slc11a2'
ID102629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc11a2
Ensembl Gene ENSMUSG00000023030
Gene Namesolute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
SynonymsDMT1, van, DCT1, Nramp2, microcytic anemia, viable anaemia
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.551) question?
Stock #IGL01645
Quality Score
Status
Chromosome15
Chromosomal Location100387898-100425072 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100389118 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 558 (N558S)
Ref Sequence ENSEMBL: ENSMUSP00000023774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000075675] [ENSMUST00000138843]
Predicted Effect probably benign
Transcript: ENSMUST00000023774
AA Change: N558S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030
AA Change: N558S

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 474 1.1e-122 PFAM
transmembrane domain 505 527 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075675
SMART Domains Protein: ENSMUSP00000075098
Gene: ENSMUSG00000093789

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Ubie_methyltran 45 175 3.6e-7 PFAM
Pfam:Methyltransf_23 48 168 2.4e-14 PFAM
Pfam:Methyltransf_31 68 188 3e-12 PFAM
Pfam:Methyltransf_25 74 167 7.5e-11 PFAM
Pfam:Methyltransf_12 75 167 6.2e-14 PFAM
Pfam:Methyltransf_11 75 168 7e-20 PFAM
Pfam:HIG_1_N 192 244 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138843
SMART Domains Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 474 4.7e-118 PFAM
transmembrane domain 505 527 N/A INTRINSIC
Coding Region Coverage
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 solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit microcytic, hypochromic anemia associated with impaired intestinal iron absorption and erythroblast iron uptake. Mutants have reduced viability and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,554 E232G probably damaging Het
Abcc8 C T 7: 46,115,053 C1156Y possibly damaging Het
Armc4 T C 18: 7,268,491 S343G probably benign Het
Atp8b1 G A 18: 64,546,113 H766Y probably benign Het
BC030867 T C 11: 102,255,186 L96P probably damaging Het
Cacna2d1 C A 5: 16,012,391 probably null Het
Card11 T A 5: 140,878,023 T987S probably benign Het
Dmxl2 A T 9: 54,378,733 Y2723N possibly damaging Het
Dnah11 T A 12: 118,186,998 I342F possibly damaging Het
Dnajc10 A G 2: 80,340,527 H454R possibly damaging Het
Dpy19l3 T C 7: 35,695,338 T592A probably benign Het
Eea1 T A 10: 95,989,589 S49T probably damaging Het
Esd T A 14: 74,749,719 N294K probably benign Het
Fmo3 A G 1: 162,964,006 V234A possibly damaging Het
Folh1 A G 7: 86,742,227 F420L probably damaging Het
Gabra1 T C 11: 42,135,562 N301S probably damaging Het
Gm5422 A T 10: 31,250,073 noncoding transcript Het
Gorab A T 1: 163,386,431 L310Q possibly damaging Het
Gsdme A G 6: 50,251,336 Y51H probably damaging Het
Itpr1 T C 6: 108,473,599 I1964T possibly damaging Het
Lmbr1 A G 5: 29,235,055 L410P probably damaging Het
Lrrc37a T C 11: 103,504,264 R112G probably benign Het
Mrgpra6 T C 7: 47,185,933 T247A probably benign Het
Mroh4 A G 15: 74,611,358 probably benign Het
Mycbpap T C 11: 94,503,467 probably null Het
Myoz2 T A 3: 123,034,232 K12N probably damaging Het
Olfr412 T C 11: 74,365,533 I288T possibly damaging Het
P3h1 T G 4: 119,236,783 F212V probably damaging Het
Pcnx2 T C 8: 125,887,917 D265G probably damaging Het
Pkd1l3 C T 8: 109,635,302 T992I possibly damaging Het
Prss58 T C 6: 40,897,310 D144G probably damaging Het
Pth2 T A 7: 45,181,340 L29Q possibly damaging Het
Rab1b A C 19: 5,104,934 probably benign Het
Rasa2 A T 9: 96,582,781 C190* probably null Het
Scn9a T C 2: 66,487,642 K1501E possibly damaging Het
Selenoi A G 5: 30,257,823 probably benign Het
Sox10 T C 15: 79,156,339 I173V probably benign Het
Sra1 A C 18: 36,671,473 F476C probably damaging Het
St5 T A 7: 109,527,634 K540* probably null Het
Tmem119 T A 5: 113,795,348 K131* probably null Het
Trim12c T A 7: 104,345,054 K198* probably null Het
Ttn A G 2: 76,851,560 probably benign Het
Unc119b C T 5: 115,127,312 V154I probably benign Het
Usp47 T A 7: 112,054,862 S108R probably damaging Het
Vmn1r15 T A 6: 57,258,562 C138* probably null Het
Vmn1r191 T C 13: 22,179,444 I47V probably benign Het
Wnt3 C T 11: 103,812,378 A229V probably benign Het
Other mutations in Slc11a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Slc11a2 APN 15 100397737 missense probably benign
IGL00923:Slc11a2 APN 15 100397788 missense probably benign 0.13
IGL02146:Slc11a2 APN 15 100401288 missense probably damaging 1.00
IGL02397:Slc11a2 APN 15 100401649 missense probably damaging 1.00
IGL02534:Slc11a2 APN 15 100401326 missense probably benign 0.03
IGL02678:Slc11a2 APN 15 100412200 missense possibly damaging 0.71
R0537:Slc11a2 UTSW 15 100405798 missense probably damaging 1.00
R0538:Slc11a2 UTSW 15 100408216 missense probably damaging 1.00
R1305:Slc11a2 UTSW 15 100410082 critical splice donor site probably null
R1750:Slc11a2 UTSW 15 100401287 missense probably damaging 1.00
R1752:Slc11a2 UTSW 15 100405806 missense probably damaging 1.00
R1895:Slc11a2 UTSW 15 100403894 missense probably benign 0.10
R2278:Slc11a2 UTSW 15 100410081 critical splice donor site probably null
R2519:Slc11a2 UTSW 15 100401323 missense probably damaging 1.00
R4724:Slc11a2 UTSW 15 100406338 missense possibly damaging 0.65
R5643:Slc11a2 UTSW 15 100403187 missense probably benign
R5667:Slc11a2 UTSW 15 100403288 missense probably damaging 1.00
R5671:Slc11a2 UTSW 15 100403288 missense probably damaging 1.00
R5994:Slc11a2 UTSW 15 100397681 missense probably benign
R7008:Slc11a2 UTSW 15 100409324 missense probably damaging 1.00
R7208:Slc11a2 UTSW 15 100402332 missense probably benign 0.00
R7547:Slc11a2 UTSW 15 100397770 missense possibly damaging 0.83
Posted On2014-01-21