Incidental Mutation 'IGL01996:Slc11a1'
ID 182892
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: 0.087) question?
Stock # IGL01996
Quality Score
Status
Chromosome 1
Chromosomal Location 74414354-74425221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74415965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 52 (L52Q)
Ref Sequence ENSEMBL: ENSMUSP00000027368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027368] [ENSMUST00000187516]
AlphaFold P41251
Predicted Effect possibly damaging
Transcript: ENSMUST00000027368
AA Change: L52Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027368
Gene: ENSMUSG00000026177
AA Change: L52Q

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000187516
SMART Domains Protein: ENSMUSP00000139455
Gene: ENSMUSG00000026177

DomainStartEndE-ValueType
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,078,430 (GRCm39) V29A possibly damaging Het
Adarb1 A G 10: 77,158,051 (GRCm39) L132P probably damaging Het
Afg3l1 T G 8: 124,228,633 (GRCm39) M733R probably damaging Het
Aox1 C T 1: 58,121,225 (GRCm39) R899C probably benign Het
Arhgap44 T A 11: 64,896,322 (GRCm39) probably benign Het
Asns T C 6: 7,682,378 (GRCm39) D189G possibly damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Ccdc138 T A 10: 58,397,852 (GRCm39) L564H probably damaging Het
Ccdc167 A G 17: 29,924,461 (GRCm39) probably null Het
Ccdc178 A G 18: 22,230,813 (GRCm39) Y353H probably damaging Het
Clca3b A T 3: 144,554,924 (GRCm39) S41R probably benign Het
Dpep3 T C 8: 106,701,358 (GRCm39) N397S probably damaging Het
Eif1 T C 11: 100,211,826 (GRCm39) I83T probably benign Het
Enah A T 1: 181,784,070 (GRCm39) W80R unknown Het
F2rl1 C T 13: 95,650,432 (GRCm39) C150Y probably damaging Het
Fbxw24 T C 9: 109,434,440 (GRCm39) R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 (GRCm39) T68A probably benign Het
Greb1 T C 12: 16,740,846 (GRCm39) K1412R possibly damaging Het
Grin2b T C 6: 135,709,584 (GRCm39) S1321G probably damaging Het
H4c11 G A 13: 21,919,308 (GRCm39) G15S unknown Het
Itgb7 C T 15: 102,126,412 (GRCm39) G508D probably damaging Het
Kcnq3 A G 15: 65,895,545 (GRCm39) I333T probably damaging Het
Knl1 A G 2: 118,934,542 (GRCm39) D2115G probably damaging Het
Lmtk3 G A 7: 45,442,871 (GRCm39) probably null Het
Lrpprc A G 17: 85,080,698 (GRCm39) Y176H probably benign Het
Mier1 T C 4: 102,984,473 (GRCm39) S22P possibly damaging Het
Mme A T 3: 63,250,970 (GRCm39) N337I probably benign Het
Mthfd1 A G 12: 76,350,679 (GRCm39) Y687C probably damaging Het
Nrp2 T C 1: 62,788,419 (GRCm39) M373T probably damaging Het
Nudcd1 A T 15: 44,269,357 (GRCm39) F101Y probably benign Het
Nup133 T A 8: 124,673,334 (GRCm39) I66L probably benign Het
Or10j7 T C 1: 173,011,294 (GRCm39) T236A probably benign Het
Or11j4 T G 14: 50,631,116 (GRCm39) M301R probably damaging Het
Or1e19 T A 11: 73,316,794 (GRCm39) N5I probably damaging Het
Osbpl5 A G 7: 143,261,081 (GRCm39) probably null Het
Paqr8 T C 1: 21,005,628 (GRCm39) F261L probably damaging Het
Plxna2 A G 1: 194,482,084 (GRCm39) E1452G probably damaging Het
Polh T C 17: 46,483,927 (GRCm39) D446G probably benign Het
Psg19 A T 7: 18,523,986 (GRCm39) M353K possibly damaging Het
Sap25 T C 5: 137,640,080 (GRCm39) probably null Het
Sap30l C T 11: 57,700,777 (GRCm39) R144* probably null Het
Sema6b C T 17: 56,438,157 (GRCm39) V144M probably damaging Het
Sfmbt2 T C 2: 10,444,837 (GRCm39) Y228H probably benign Het
Shank2 A G 7: 143,965,230 (GRCm39) D946G probably damaging Het
Sptlc3 T C 2: 139,423,424 (GRCm39) probably benign Het
Tgfb1i1 T C 7: 127,848,464 (GRCm39) probably benign Het
Tifa T C 3: 127,590,229 (GRCm39) probably benign Het
Tomm40l C T 1: 171,047,224 (GRCm39) V265M possibly damaging Het
Trim45 C A 3: 100,835,425 (GRCm39) Y469* probably null Het
Ttc21a G T 9: 119,787,182 (GRCm39) A730S probably damaging Het
Vmn1r18 A T 6: 57,367,001 (GRCm39) D184E possibly damaging Het
Vmn2r120 A T 17: 57,832,222 (GRCm39) I189N possibly damaging 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
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
IGL02961:Slc11a1 APN 1 74,416,332 (GRCm39) missense probably damaging 1.00
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 2014-05-07