Incidental Mutation 'IGL02961:Slc11a1'
ID 365337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc11a1
Ensembl Gene ENSMUSG00000026177
Gene Name solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
Synonyms Nramp1, host resistance locus Bcg/Ity/Lsh, Bcg, Ity1, Nramp, Lsh, Ity, ity
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL02961
Quality Score
Chromosome 1
Chromosomal Location 74414354-74425221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74416332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 53 (L53P)
Ref Sequence ENSEMBL: ENSMUSP00000139455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027368] [ENSMUST00000187516]
AlphaFold P41251
Predicted Effect probably damaging
Transcript: ENSMUST00000027368
AA Change: L94P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027368
Gene: ENSMUSG00000026177
AA Change: L94P

Pfam:Nramp 75 460 1.5e-119 PFAM
transmembrane domain 464 486 N/A INTRINSIC
transmembrane domain 491 513 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155865
Predicted Effect probably damaging
Transcript: ENSMUST00000187516
AA Change: L53P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139455
Gene: ENSMUSG00000026177
AA Change: L53P

Pfam:Nramp 46 419 1.4e-109 PFAM
transmembrane domain 423 445 N/A INTRINSIC
transmembrane domain 450 472 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 is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene are associated with susceptibility to infection with pathogens, including Myobacterium, Salmonella and Leishmania. Depending on the mutation, mutants may exhibit either increased or decreased susceptibility to infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,671,731 (GRCm39) V2288A probably damaging Het
Agbl4 T A 4: 110,437,318 (GRCm39) N76K probably damaging Het
AI182371 A T 2: 34,976,124 (GRCm39) V258E possibly damaging Het
Alg1 T A 16: 5,052,861 (GRCm39) N80K probably benign Het
Ambra1 A G 2: 91,741,793 (GRCm39) M963V possibly damaging Het
Avil C A 10: 126,844,175 (GRCm39) Q245K probably benign Het
Caml A G 13: 55,779,695 (GRCm39) N256S probably benign Het
Ccdc102a A C 8: 95,629,978 (GRCm39) I521S possibly damaging Het
Ccm2l A G 2: 152,920,521 (GRCm39) T393A probably benign Het
Cdh16 A G 8: 105,341,837 (GRCm39) V91A probably damaging Het
Chd7 A G 4: 8,751,542 (GRCm39) D13G probably damaging Het
Chsy1 T A 7: 65,821,530 (GRCm39) D588E probably benign Het
Cilp T A 9: 65,185,891 (GRCm39) V662E possibly damaging Het
Cog8 A G 8: 107,782,885 (GRCm39) probably benign Het
Cpb2 T C 14: 75,502,823 (GRCm39) V134A probably benign Het
Ctcfl T A 2: 172,943,712 (GRCm39) H546L possibly damaging Het
Dclre1c A G 2: 3,438,070 (GRCm39) D136G probably damaging Het
Dnah2 T A 11: 69,409,240 (GRCm39) E379D probably damaging Het
Extl3 A G 14: 65,294,408 (GRCm39) Y808H possibly damaging Het
Gm7247 T A 14: 51,602,812 (GRCm39) N49K probably damaging Het
Insr T C 8: 3,308,785 (GRCm39) I84V probably benign Het
Ipo7 C T 7: 109,646,223 (GRCm39) P541S probably benign Het
Kcnc3 T C 7: 44,240,916 (GRCm39) S203P probably damaging Het
Myo5a A G 9: 75,122,402 (GRCm39) D1732G probably benign Het
Or10q3 T A 19: 11,847,695 (GRCm39) N295I probably damaging Het
Or52d1 C A 7: 103,756,357 (GRCm39) Y290* probably null Het
Or5p68 T C 7: 107,945,334 (GRCm39) I285V probably benign Het
Or5w22 A G 2: 87,363,028 (GRCm39) Y217C probably damaging Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Pde3a T A 6: 141,405,426 (GRCm39) L426* probably null Het
Pkd1 T A 17: 24,797,089 (GRCm39) D8E possibly damaging Het
Polr3a A T 14: 24,517,108 (GRCm39) Y714* probably null Het
Pramel16 T C 4: 143,675,717 (GRCm39) T370A probably damaging Het
Prb1c A T 6: 132,338,371 (GRCm39) F282L unknown Het
Rasgrf1 T C 9: 89,863,702 (GRCm39) V556A possibly damaging Het
Rev3l T C 10: 39,703,941 (GRCm39) Y1996H possibly damaging Het
Rttn T C 18: 89,071,697 (GRCm39) L1248P probably damaging Het
Slc22a27 T C 19: 7,903,886 (GRCm39) R84G probably damaging Het
Sptbn4 A G 7: 27,097,392 (GRCm39) L1302P probably damaging Het
Srm T C 4: 148,678,586 (GRCm39) V271A possibly damaging Het
Sycp2 A G 2: 178,022,655 (GRCm39) I492T probably benign Het
Tmprss13 A G 9: 45,256,301 (GRCm39) T472A probably damaging Het
Togaram1 A G 12: 65,013,484 (GRCm39) D245G probably damaging Het
Vmn1r184 A T 7: 25,967,075 (GRCm39) I274L probably benign Het
Vmn1r21 T C 6: 57,820,974 (GRCm39) M157V probably benign Het
Wdr90 C A 17: 26,067,649 (GRCm39) E1420* probably null Het
Zfp518a A T 19: 40,903,462 (GRCm39) R1130S probably benign Het
Other mutations in Slc11a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Slc11a1 APN 1 74,421,057 (GRCm39) splice site probably null
IGL00813:Slc11a1 APN 1 74,422,639 (GRCm39) missense probably benign 0.03
IGL00970:Slc11a1 APN 1 74,419,821 (GRCm39) missense probably damaging 1.00
IGL01017:Slc11a1 APN 1 74,418,955 (GRCm39) missense probably damaging 1.00
IGL01646:Slc11a1 APN 1 74,423,899 (GRCm39) missense probably damaging 0.99
IGL01941:Slc11a1 APN 1 74,416,338 (GRCm39) missense probably damaging 1.00
IGL01996:Slc11a1 APN 1 74,415,965 (GRCm39) missense possibly damaging 0.93
IGL02580:Slc11a1 APN 1 74,419,418 (GRCm39) missense probably damaging 0.99
IGL02586:Slc11a1 APN 1 74,424,291 (GRCm39) splice site probably benign
R1813:Slc11a1 UTSW 1 74,414,931 (GRCm39) missense probably benign
R1896:Slc11a1 UTSW 1 74,414,931 (GRCm39) missense probably benign
R2219:Slc11a1 UTSW 1 74,419,824 (GRCm39) missense probably damaging 0.98
R2220:Slc11a1 UTSW 1 74,419,824 (GRCm39) missense probably damaging 0.98
R2416:Slc11a1 UTSW 1 74,422,803 (GRCm39) missense probably damaging 0.96
R2432:Slc11a1 UTSW 1 74,422,910 (GRCm39) splice site probably benign
R3893:Slc11a1 UTSW 1 74,423,865 (GRCm39) missense probably damaging 1.00
R4450:Slc11a1 UTSW 1 74,424,694 (GRCm39) utr 3 prime probably benign
R4638:Slc11a1 UTSW 1 74,414,437 (GRCm39) start gained probably benign
R4782:Slc11a1 UTSW 1 74,423,247 (GRCm39) missense probably damaging 0.98
R5068:Slc11a1 UTSW 1 74,424,343 (GRCm39) missense probably damaging 1.00
R5069:Slc11a1 UTSW 1 74,424,343 (GRCm39) missense probably damaging 1.00
R5070:Slc11a1 UTSW 1 74,424,343 (GRCm39) missense probably damaging 1.00
R5215:Slc11a1 UTSW 1 74,422,936 (GRCm39) intron probably benign
R5333:Slc11a1 UTSW 1 74,423,304 (GRCm39) missense probably damaging 1.00
R5613:Slc11a1 UTSW 1 74,420,065 (GRCm39) missense probably damaging 1.00
R5621:Slc11a1 UTSW 1 74,420,065 (GRCm39) missense probably damaging 1.00
R5622:Slc11a1 UTSW 1 74,420,065 (GRCm39) missense probably damaging 1.00
R5950:Slc11a1 UTSW 1 74,416,335 (GRCm39) missense probably benign 0.40
R6239:Slc11a1 UTSW 1 74,423,274 (GRCm39) missense possibly damaging 0.82
R6776:Slc11a1 UTSW 1 74,423,244 (GRCm39) missense probably damaging 1.00
R7199:Slc11a1 UTSW 1 74,422,830 (GRCm39) missense possibly damaging 0.83
R7356:Slc11a1 UTSW 1 74,424,648 (GRCm39) missense probably benign
R8142:Slc11a1 UTSW 1 74,424,418 (GRCm39) missense probably benign
R8877:Slc11a1 UTSW 1 74,419,424 (GRCm39) missense probably damaging 1.00
R9026:Slc11a1 UTSW 1 74,416,325 (GRCm39) missense probably damaging 1.00
R9600:Slc11a1 UTSW 1 74,422,688 (GRCm39) critical splice donor site probably null
R9617:Slc11a1 UTSW 1 74,419,041 (GRCm39) missense probably benign 0.06
Posted On 2015-12-18