Incidental Mutation 'R1813:Slc11a1'
ID 202522
Institutional Source Beutler Lab
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
MMRRC Submission 039841-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R1813 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 74414354-74425221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74414931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 21 (L21P)
Ref Sequence ENSEMBL: ENSMUSP00000139455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027368] [ENSMUST00000187516]
AlphaFold P41251
Predicted Effect probably benign
Transcript: ENSMUST00000027368
AA Change: L21P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027368
Gene: ENSMUSG00000026177
AA Change: L21P

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: 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
AA Change: L21P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139455
Gene: ENSMUSG00000026177
AA Change: L21P

Pfam:Nramp 46 419 1.4e-109 PFAM
transmembrane domain 423 445 N/A INTRINSIC
transmembrane domain 450 472 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.8%
  • 20x: 90.3%
Validation Efficiency 96% (79/82)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,543,236 (GRCm39) N595Y probably benign Het
Abca6 A G 11: 110,124,671 (GRCm39) probably benign Het
Abo C A 2: 26,733,609 (GRCm39) D199Y probably damaging Het
Acvr1c A C 2: 58,170,306 (GRCm39) V277G probably damaging Het
Adam23 G A 1: 63,584,731 (GRCm39) A380T probably benign Het
Art2b A G 7: 101,229,236 (GRCm39) V221A probably benign Het
Bcam A G 7: 19,500,640 (GRCm39) S153P probably damaging Het
Brip1 T C 11: 86,077,906 (GRCm39) H174R possibly damaging Het
Ccdc186 T C 19: 56,788,601 (GRCm39) D536G probably benign Het
Cd109 A G 9: 78,524,287 (GRCm39) N67S probably benign Het
Cd8a G T 6: 71,350,947 (GRCm39) M137I possibly damaging Het
Ces2g T C 8: 105,693,569 (GRCm39) F417L probably benign Het
Clec2g A G 6: 128,925,660 (GRCm39) N23S unknown Het
Cntnap2 T C 6: 46,507,567 (GRCm39) Y61C probably damaging Het
Cog3 T A 14: 75,979,784 (GRCm39) E182D probably benign Het
Dbpht2 A G 12: 74,342,624 (GRCm39) noncoding transcript Het
Dock4 A T 12: 40,686,227 (GRCm39) N154I probably damaging Het
Dysf T G 6: 84,128,906 (GRCm39) V1422G possibly damaging Het
E2f3 T C 13: 30,104,159 (GRCm39) D140G probably damaging Het
Efcab3 A G 11: 104,611,514 (GRCm39) K452R probably benign Het
Epb41l2 T A 10: 25,317,466 (GRCm39) probably null Het
Epha2 A G 4: 141,035,857 (GRCm39) K98E possibly damaging Het
Esyt1 T C 10: 128,355,487 (GRCm39) D444G probably benign Het
Fam163a T C 1: 155,955,787 (GRCm39) T2A probably damaging Het
Foxp2 A T 6: 15,379,767 (GRCm39) probably benign Het
Gcm2 T C 13: 41,259,367 (GRCm39) H34R probably benign Het
Gipr A G 7: 18,897,996 (GRCm39) S79P probably benign Het
Gli3 T C 13: 15,823,276 (GRCm39) S333P probably damaging Het
Gm10717 T G 9: 3,026,317 (GRCm39) F205C probably damaging Het
Gzmk A G 13: 113,309,427 (GRCm39) S208P probably damaging Het
Htra2 G T 6: 83,028,583 (GRCm39) A318D probably damaging Het
Itpkc T C 7: 26,907,805 (GRCm39) D633G probably damaging Het
Lama1 G A 17: 68,098,218 (GRCm39) R1805H probably benign Het
Lama4 T A 10: 38,909,121 (GRCm39) probably benign Het
Lama4 T C 10: 38,936,182 (GRCm39) V619A probably damaging Het
Notch3 T C 17: 32,362,402 (GRCm39) T1408A probably benign Het
Nwd2 A G 5: 63,962,753 (GRCm39) D779G probably benign Het
Nxpe4 A G 9: 48,304,678 (GRCm39) Y255C possibly damaging Het
Obox6 A T 7: 15,568,770 (GRCm39) H35Q possibly damaging Het
Or2ab1 A G 11: 58,489,133 (GRCm39) I304V probably damaging Het
Or8b41 T A 9: 38,055,025 (GRCm39) I198N possibly damaging Het
Pkig T A 2: 163,563,147 (GRCm39) I26N possibly damaging Het
Plekhm2 C T 4: 141,369,750 (GRCm39) V82M possibly damaging Het
Plppr2 G A 9: 21,859,220 (GRCm39) A446T probably damaging Het
Psme4 T A 11: 30,754,353 (GRCm39) F203L probably benign Het
Sh3bp1 A G 15: 78,787,880 (GRCm39) K137E probably damaging Het
Shisa5 T A 9: 108,885,108 (GRCm39) I126N probably damaging Het
Slc35f1 C T 10: 52,809,291 (GRCm39) P93S probably damaging Het
Slc4a4 A G 5: 89,194,167 (GRCm39) T172A probably damaging Het
Slc9c1 A T 16: 45,393,710 (GRCm39) Y551F probably benign Het
Spata31 T C 13: 65,069,612 (GRCm39) S587P probably benign Het
Syna C A 5: 134,588,006 (GRCm39) M314I probably benign Het
Taf5l A G 8: 124,730,152 (GRCm39) L144P probably damaging Het
Tbccd1 T C 16: 22,641,271 (GRCm39) T369A probably benign Het
Tnfrsf11b A T 15: 54,119,493 (GRCm39) C160* probably null Het
Trim45 A G 3: 100,830,283 (GRCm39) N19S probably benign Het
Uba2 A G 7: 33,850,455 (GRCm39) F364S probably damaging Het
Unc50 T A 1: 37,476,323 (GRCm39) L161Q probably damaging Het
Uso1 A T 5: 92,348,992 (GRCm39) probably null Het
Usp25 A G 16: 76,911,838 (GRCm39) I956V probably benign Het
Utf1 C A 7: 139,524,213 (GRCm39) L143I probably damaging Het
Vmn1r158 C T 7: 22,490,143 (GRCm39) C22Y probably damaging Het
Vmn1r36 T A 6: 66,693,756 (GRCm39) M40L probably benign Het
Vmn2r43 A G 7: 8,258,055 (GRCm39) V386A possibly damaging Het
Vps9d1 C A 8: 123,973,778 (GRCm39) R335L probably damaging Het
Wasf1 T A 10: 40,802,585 (GRCm39) V80D probably damaging Het
Wdr72 G A 9: 74,183,298 (GRCm39) V1077I possibly damaging Het
Wnt8a A G 18: 34,675,422 (GRCm39) M1V probably null Het
Zbtb26 A G 2: 37,326,347 (GRCm39) S230P possibly damaging Het
Zfp335 A G 2: 164,734,525 (GRCm39) V1247A probably damaging Het
Zfp429 T C 13: 67,538,505 (GRCm39) N313S possibly damaging Het
Zfp74 A T 7: 29,634,569 (GRCm39) C380S probably damaging Het
Zfyve21 G A 12: 111,791,328 (GRCm39) E134K probably damaging Het
Zmynd11 T C 13: 9,739,616 (GRCm39) T474A 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
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
IGL02961:Slc11a1 APN 1 74,416,332 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-06-23