Incidental Mutation 'R2416:Slc11a1'
| ID |
248996 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R2416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74414354-74425221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74422803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 311
(L311P)
|
| 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: L352P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027368
Gene: ENSMUSG00000026177
AA Change: L352P
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000127487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147233
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187516
AA Change: L311P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139455
Gene: ENSMUSG00000026177
AA Change: L311P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nramp
|
46 |
419 |
1.4e-109 |
PFAM |
|
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
|
transmembrane domain
|
450 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155865
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,791 (GRCm39) |
D58G |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,162,457 (GRCm39) |
R755G |
probably damaging |
Het |
| Bard1 |
G |
T |
1: 71,113,811 (GRCm39) |
T390N |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,092 (GRCm39) |
L1480* |
probably null |
Het |
| Cryba1 |
T |
A |
11: 77,611,726 (GRCm39) |
I116F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,285 (GRCm39) |
S125P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,795,246 (GRCm39) |
*492W |
probably null |
Het |
| Eif3m |
G |
T |
2: 104,844,178 (GRCm39) |
P76T |
probably benign |
Het |
| Eya1 |
A |
G |
1: 14,340,927 (GRCm39) |
|
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,420 (GRCm39) |
I2822T |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,628,618 (GRCm39) |
S138T |
possibly damaging |
Het |
| Gpr160 |
A |
G |
3: 30,950,158 (GRCm39) |
T77A |
probably benign |
Het |
| Hdac1-ps |
G |
T |
17: 78,799,945 (GRCm39) |
W312L |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,036,433 (GRCm39) |
I85V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,656 (GRCm39) |
I297T |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,858 (GRCm39) |
S3P |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,982,324 (GRCm39) |
T358I |
possibly damaging |
Het |
| Ulk2 |
C |
T |
11: 61,672,865 (GRCm39) |
G910R |
probably damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,833,828 (GRCm39) |
Y493C |
probably damaging |
Het |
|
| Other mutations in Slc11a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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
(F):5'- CAGCAGCCTCCAGAACTATG -3'
(R):5'- TGAATATGGAACGCCTTTGGGG -3'
Sequencing Primer
(F):5'- ATGCTAAGATCTTCCCCAGGG -3'
(R):5'- GGGGATTCTGATTGTCATCTTACCC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation