Incidental Mutation 'IGL00923:Slc11a2'
ID 29061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc11a2
Ensembl Gene ENSMUSG00000023030
Gene Name solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
Synonyms DMT1, Nramp2, van, microcytic anemia, viable anaemia, DCT1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # IGL00923
Quality Score
Status
Chromosome 15
Chromosomal Location 100285779-100322090 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100295669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 175 (V175A)
Ref Sequence ENSEMBL: ENSMUSP00000114702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000124324] [ENSMUST00000138843]
AlphaFold P49282
Predicted Effect probably benign
Transcript: ENSMUST00000023774
AA Change: V484A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030
AA Change: V484A

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: ENSMUST00000124324
AA Change: V175A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114702
Gene: ENSMUSG00000023030
AA Change: V175A

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: V484A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030
AA Change: V484A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,832,235 (GRCm39) E956V probably benign Het
Adcy2 C T 13: 68,768,915 (GRCm39) G1071E probably damaging Het
Adgrv1 A T 13: 81,530,410 (GRCm39) V5888D probably damaging Het
Arhgef12 G A 9: 42,931,920 (GRCm39) T189I probably damaging Het
Cp T C 3: 20,024,165 (GRCm39) L335P probably damaging Het
Cwf19l1 A G 19: 44,119,849 (GRCm39) probably null Het
Dgki A T 6: 36,839,391 (GRCm39) N933K probably benign Het
Dixdc1 G T 9: 50,579,033 (GRCm39) A660D probably damaging Het
Dnajc9 T C 14: 20,435,515 (GRCm39) D232G probably benign Het
Dock9 A G 14: 121,844,504 (GRCm39) probably benign Het
Elp6 A T 9: 110,139,193 (GRCm39) T29S probably damaging Het
Fam8a1 T C 13: 46,827,147 (GRCm39) probably null Het
Fbn2 A T 18: 58,145,397 (GRCm39) D2746E probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Mtss1 G T 15: 58,815,348 (GRCm39) N737K possibly damaging Het
Nbas T C 12: 13,386,285 (GRCm39) V737A possibly damaging Het
Ndrg1 A T 15: 66,814,959 (GRCm39) N164K probably damaging Het
Nrtn A G 17: 57,059,447 (GRCm39) S11P probably damaging Het
Or4c11c T G 2: 88,661,456 (GRCm39) probably null Het
Or4f62 T A 2: 111,987,122 (GRCm39) D275E possibly damaging Het
Rab10 T A 12: 3,303,334 (GRCm39) M118L probably benign Het
Tex21 T A 12: 76,291,885 (GRCm39) D12V probably damaging Het
Ttn T A 2: 76,731,272 (GRCm39) probably benign Het
Vmn1r215 G A 13: 23,260,419 (GRCm39) G153D probably damaging Het
Zc3h4 A G 7: 16,163,617 (GRCm39) D612G unknown Het
Zfp354c A T 11: 50,706,440 (GRCm39) Y212N probably damaging Het
Zmiz2 T A 11: 6,352,845 (GRCm39) M631K probably damaging Het
Other mutations in Slc11a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Slc11a2 APN 15 100,295,618 (GRCm39) missense probably benign
IGL01645:Slc11a2 APN 15 100,286,999 (GRCm39) missense probably benign 0.05
IGL02146:Slc11a2 APN 15 100,299,169 (GRCm39) missense probably damaging 1.00
IGL02397:Slc11a2 APN 15 100,299,530 (GRCm39) missense probably damaging 1.00
IGL02534:Slc11a2 APN 15 100,299,207 (GRCm39) missense probably benign 0.03
IGL02678:Slc11a2 APN 15 100,310,081 (GRCm39) missense possibly damaging 0.71
R0537:Slc11a2 UTSW 15 100,303,679 (GRCm39) missense probably damaging 1.00
R0538:Slc11a2 UTSW 15 100,306,097 (GRCm39) missense probably damaging 1.00
R1305:Slc11a2 UTSW 15 100,307,963 (GRCm39) critical splice donor site probably null
R1750:Slc11a2 UTSW 15 100,299,168 (GRCm39) missense probably damaging 1.00
R1752:Slc11a2 UTSW 15 100,303,687 (GRCm39) missense probably damaging 1.00
R1895:Slc11a2 UTSW 15 100,301,775 (GRCm39) missense probably benign 0.10
R2278:Slc11a2 UTSW 15 100,307,962 (GRCm39) critical splice donor site probably null
R2519:Slc11a2 UTSW 15 100,299,204 (GRCm39) missense probably damaging 1.00
R4724:Slc11a2 UTSW 15 100,304,219 (GRCm39) missense possibly damaging 0.65
R5643:Slc11a2 UTSW 15 100,301,068 (GRCm39) missense probably benign
R5667:Slc11a2 UTSW 15 100,301,169 (GRCm39) missense probably damaging 1.00
R5671:Slc11a2 UTSW 15 100,301,169 (GRCm39) missense probably damaging 1.00
R5994:Slc11a2 UTSW 15 100,295,562 (GRCm39) missense probably benign
R7008:Slc11a2 UTSW 15 100,307,205 (GRCm39) missense probably damaging 1.00
R7208:Slc11a2 UTSW 15 100,300,213 (GRCm39) missense probably benign 0.00
R7547:Slc11a2 UTSW 15 100,295,651 (GRCm39) missense possibly damaging 0.83
R7829:Slc11a2 UTSW 15 100,307,142 (GRCm39) missense possibly damaging 0.95
R9015:Slc11a2 UTSW 15 100,301,186 (GRCm39) missense probably benign 0.12
R9362:Slc11a2 UTSW 15 100,304,236 (GRCm39) missense probably damaging 1.00
R9573:Slc11a2 UTSW 15 100,304,225 (GRCm39) missense probably damaging 1.00
Z1188:Slc11a2 UTSW 15 100,305,980 (GRCm39) critical splice donor site probably null
Posted On 2013-04-17