Incidental Mutation 'IGL02534:Slc11a2'
| ID |
297430 |
| 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)
|
| Stock # |
IGL02534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
100285779-100322090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100299207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 121
(Q121L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023774]
[ENSMUST00000123461]
[ENSMUST00000124324]
[ENSMUST00000138843]
|
| AlphaFold |
P49282 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023774
AA Change: Q430L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030
AA Change: Q430L
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000123461
|
| SMART Domains |
Protein: ENSMUSP00000119056
Gene: ENSMUSG00000023030
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
Pfam:Nramp
|
90 |
170 |
2.9e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124324
AA Change: Q121L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000114702
Gene: ENSMUSG00000023030
AA Change: Q121L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nramp
|
1 |
165 |
1.4e-39 |
PFAM |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138843
AA Change: Q430L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030
AA Change: Q430L
| Domain | Start | End | E-Value | Type |
|---|
|
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
C |
T |
13: 95,506,030 (GRCm39) |
E186K |
possibly damaging |
Het |
| Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
| Anks1b |
A |
G |
10: 90,730,979 (GRCm39) |
I932V |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,609,526 (GRCm39) |
Y1361H |
probably damaging |
Het |
| Bcl9 |
G |
T |
3: 97,122,545 (GRCm39) |
L85M |
probably damaging |
Het |
| Bcl9l |
T |
G |
9: 44,417,036 (GRCm39) |
S291R |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,550,767 (GRCm39) |
D201E |
probably benign |
Het |
| Efna5 |
A |
T |
17: 62,920,384 (GRCm39) |
C164* |
probably null |
Het |
| Fhip2b |
A |
T |
14: 70,823,128 (GRCm39) |
H642Q |
probably damaging |
Het |
| Fhip2b |
T |
A |
14: 70,823,630 (GRCm39) |
H580L |
probably benign |
Het |
| Gm6316 |
A |
G |
12: 69,967,763 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,500 (GRCm39) |
S57P |
probably damaging |
Het |
| Inf2 |
C |
A |
12: 112,576,930 (GRCm39) |
A968E |
unknown |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mcm5 |
T |
A |
8: 75,840,861 (GRCm39) |
V222E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,398,456 (GRCm39) |
Y287C |
unknown |
Het |
| Or12e9 |
T |
G |
2: 87,202,598 (GRCm39) |
S241A |
probably benign |
Het |
| Or13a24 |
A |
T |
7: 140,154,554 (GRCm39) |
M163L |
probably benign |
Het |
| Or14c39 |
G |
A |
7: 86,343,939 (GRCm39) |
V92M |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,713 (GRCm39) |
M136T |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,869,410 (GRCm39) |
D70G |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Ppp1r17 |
C |
A |
6: 56,003,445 (GRCm39) |
S86* |
probably null |
Het |
| Rasd1 |
A |
G |
11: 59,855,615 (GRCm39) |
M6T |
possibly damaging |
Het |
| Rsph14 |
C |
A |
10: 74,793,466 (GRCm39) |
V345F |
probably damaging |
Het |
| Smc5 |
A |
T |
19: 23,205,536 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
T |
C |
11: 105,725,994 (GRCm39) |
L386P |
probably damaging |
Het |
| Tmem9b |
A |
T |
7: 109,336,164 (GRCm39) |
L160Q |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,906 (GRCm39) |
T488A |
possibly damaging |
Het |
| Tubb1 |
A |
G |
2: 174,297,462 (GRCm39) |
I24V |
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,788,302 (GRCm39) |
|
probably null |
Het |
| Zfp263 |
T |
A |
16: 3,564,279 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc11a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Slc11a2
|
APN |
15 |
100,295,618 (GRCm39) |
missense |
probably benign |
|
|
IGL00923:Slc11a2
|
APN |
15 |
100,295,669 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation