Incidental Mutation 'IGL02534:Slc11a2'
ID297430
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 non essential (E-score: 0.422) question?
Stock #IGL02534
Quality Score
Status
Chromosome15
Chromosomal Location100387898-100425072 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 100401326 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 121 (Q121L)
Ref Sequence ENSEMBL: ENSMUSP00000114702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000124324] [ENSMUST00000138843]
Predicted Effect probably benign
Transcript: ENSMUST00000023774
AA Change: Q430L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030
AA Change: Q430L

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: ENSMUST00000123461
SMART Domains Protein: ENSMUSP00000119056
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 170 2.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124324
AA Change: Q121L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000114702
Gene: ENSMUSG00000023030
AA Change: Q121L

DomainStartEndE-ValueType
Pfam:Nramp 1 165 1.4e-39 PFAM
transmembrane domain 196 218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138843
AA Change: Q430L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030
AA Change: Q430L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140535
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 C T 13: 95,369,522 E186K possibly damaging Het
Anks1b A G 10: 90,895,117 I932V probably benign Het
Atg2b A G 12: 105,643,267 Y1361H probably damaging Het
Bcl9 G T 3: 97,215,229 L85M probably damaging Het
Bcl9l T G 9: 44,505,739 S291R probably benign Het
Cpa2 T A 6: 30,550,768 D201E probably benign Het
Efna5 A T 17: 62,613,389 C164* probably null Het
Fam160b2 A T 14: 70,585,688 H642Q probably damaging Het
Fam160b2 T A 14: 70,586,190 H580L probably benign Het
Gm6316 A G 12: 69,920,989 probably benign Het
Gm996 G T 2: 25,577,031 S956* probably null Het
Gucy2g A G 19: 55,241,068 S57P probably damaging Het
Inf2 C A 12: 112,610,496 A968E unknown Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mcm5 T A 8: 75,114,233 V222E probably damaging Het
Muc5b A G 7: 141,844,719 Y287C unknown Het
Olfr1037 A G 2: 86,085,369 M136T probably damaging Het
Olfr1121 T G 2: 87,372,254 S241A probably benign Het
Olfr292 G A 7: 86,694,731 V92M probably benign Het
Olfr538 A T 7: 140,574,641 M163L probably benign Het
Pabpc1l A G 2: 164,027,490 D70G probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Ppp1r17 C A 6: 56,026,460 S86* probably null Het
Rasd1 A G 11: 59,964,789 M6T possibly damaging Het
Rsph14 C A 10: 74,957,634 V345F probably damaging Het
Smc5 A T 19: 23,228,172 probably null Het
Tanc2 T C 11: 105,835,168 L386P probably damaging Het
Tmem9b A T 7: 109,736,957 L160Q probably damaging Het
Trim32 A G 4: 65,614,669 T488A possibly damaging Het
Tubb1 A G 2: 174,455,669 I24V probably benign Het
Upf1 A T 8: 70,335,652 probably null Het
Zfp263 T A 16: 3,746,415 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
IGL01645:Slc11a2 APN 15 100389118 missense probably benign 0.05
IGL02146:Slc11a2 APN 15 100401288 missense probably damaging 1.00
IGL02397:Slc11a2 APN 15 100401649 missense probably damaging 1.00
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
R7829:Slc11a2 UTSW 15 100409261 missense possibly damaging 0.95
Posted On2015-04-16