Incidental Mutation 'IGL03236:Slc47a2'
ID |
414055 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc47a2
|
Ensembl Gene |
ENSMUSG00000069855 |
Gene Name |
solute carrier family 47, member 2 |
Synonyms |
4933429E10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03236
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
61192457-61233686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61204505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 282
(E282G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093029]
[ENSMUST00000134423]
|
AlphaFold |
Q3V050 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093029
AA Change: E282G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090710 Gene: ENSMUSG00000069855 AA Change: E282G
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
Pfam:MatE
|
53 |
213 |
1.7e-35 |
PFAM |
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
Pfam:MatE
|
274 |
435 |
4e-34 |
PFAM |
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
transmembrane domain
|
545 |
567 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134423
AA Change: E282G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120907 Gene: ENSMUSG00000069855 AA Change: E282G
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
Pfam:MatE
|
53 |
213 |
3.5e-32 |
PFAM |
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
Pfam:MatE
|
274 |
435 |
1.7e-36 |
PFAM |
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
G |
4: 144,246,486 (GRCm39) |
T11A |
probably benign |
Het |
Abca17 |
A |
G |
17: 24,545,450 (GRCm39) |
|
probably benign |
Het |
Aox1 |
G |
T |
1: 58,349,156 (GRCm39) |
E641* |
probably null |
Het |
Arhgef10l |
G |
T |
4: 140,338,671 (GRCm39) |
D30E |
probably damaging |
Het |
Arhgef37 |
A |
T |
18: 61,656,897 (GRCm39) |
I56N |
probably damaging |
Het |
Cwf19l1 |
T |
C |
19: 44,115,887 (GRCm39) |
I181V |
probably benign |
Het |
Dnai2 |
A |
G |
11: 114,648,075 (GRCm39) |
|
probably benign |
Het |
Elp2 |
A |
G |
18: 24,755,300 (GRCm39) |
|
probably benign |
Het |
Epb41l4a |
G |
A |
18: 33,943,272 (GRCm39) |
S541L |
probably damaging |
Het |
Ibsp |
A |
C |
5: 104,453,871 (GRCm39) |
N70H |
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,657,848 (GRCm39) |
E35G |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,415,949 (GRCm39) |
V1623A |
probably damaging |
Het |
Kpna7 |
A |
T |
5: 144,922,504 (GRCm39) |
V499E |
unknown |
Het |
Krtap4-16 |
C |
A |
11: 99,741,962 (GRCm39) |
R146L |
unknown |
Het |
Map2k5 |
T |
A |
9: 63,193,674 (GRCm39) |
|
probably benign |
Het |
Mfn2 |
A |
G |
4: 147,966,562 (GRCm39) |
F543S |
probably damaging |
Het |
Mical3 |
A |
G |
6: 120,946,345 (GRCm39) |
L1052P |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,536,134 (GRCm39) |
N272S |
probably damaging |
Het |
Ndel1 |
A |
G |
11: 68,732,976 (GRCm39) |
Y87H |
probably benign |
Het |
Ndnf |
G |
A |
6: 65,673,156 (GRCm39) |
V45M |
possibly damaging |
Het |
Nr3c1 |
A |
G |
18: 39,619,444 (GRCm39) |
I281T |
probably benign |
Het |
Ntm |
A |
G |
9: 29,020,802 (GRCm39) |
V139A |
probably benign |
Het |
Or5ac23 |
A |
C |
16: 59,149,200 (GRCm39) |
V224G |
probably damaging |
Het |
Pkhd1l1 |
T |
G |
15: 44,445,222 (GRCm39) |
V3698G |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,188,226 (GRCm39) |
Y773C |
probably damaging |
Het |
Prkaca |
T |
A |
8: 84,717,074 (GRCm39) |
F138Y |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,616,877 (GRCm39) |
T1312A |
probably benign |
Het |
Smchd1 |
G |
A |
17: 71,698,425 (GRCm39) |
T1117I |
possibly damaging |
Het |
Utp6 |
A |
G |
11: 79,851,567 (GRCm39) |
|
probably benign |
Het |
Vmn1r66 |
T |
A |
7: 10,008,990 (GRCm39) |
K14N |
probably damaging |
Het |
Vmn1r71 |
A |
T |
7: 10,482,211 (GRCm39) |
V93E |
probably benign |
Het |
Zfp768 |
G |
A |
7: 126,943,142 (GRCm39) |
L329F |
possibly damaging |
Het |
|
Other mutations in Slc47a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00848:Slc47a2
|
APN |
11 |
61,193,059 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01367:Slc47a2
|
APN |
11 |
61,220,607 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01681:Slc47a2
|
APN |
11 |
61,228,866 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01874:Slc47a2
|
APN |
11 |
61,203,685 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02049:Slc47a2
|
APN |
11 |
61,233,365 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02399:Slc47a2
|
APN |
11 |
61,193,020 (GRCm39) |
unclassified |
probably benign |
|
IGL02481:Slc47a2
|
APN |
11 |
61,227,067 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02880:Slc47a2
|
APN |
11 |
61,198,366 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03068:Slc47a2
|
APN |
11 |
61,194,769 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03136:Slc47a2
|
APN |
11 |
61,201,591 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03286:Slc47a2
|
APN |
11 |
61,233,293 (GRCm39) |
missense |
possibly damaging |
0.57 |
R0047:Slc47a2
|
UTSW |
11 |
61,227,068 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0047:Slc47a2
|
UTSW |
11 |
61,227,068 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0597:Slc47a2
|
UTSW |
11 |
61,200,802 (GRCm39) |
missense |
probably damaging |
0.98 |
R0690:Slc47a2
|
UTSW |
11 |
61,233,330 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2042:Slc47a2
|
UTSW |
11 |
61,228,908 (GRCm39) |
missense |
probably benign |
0.05 |
R2217:Slc47a2
|
UTSW |
11 |
61,204,497 (GRCm39) |
missense |
probably benign |
0.00 |
R2218:Slc47a2
|
UTSW |
11 |
61,204,497 (GRCm39) |
missense |
probably benign |
0.00 |
R2271:Slc47a2
|
UTSW |
11 |
61,219,352 (GRCm39) |
critical splice donor site |
probably null |
|
R2272:Slc47a2
|
UTSW |
11 |
61,219,352 (GRCm39) |
critical splice donor site |
probably null |
|
R4067:Slc47a2
|
UTSW |
11 |
61,194,773 (GRCm39) |
missense |
probably benign |
0.00 |
R4861:Slc47a2
|
UTSW |
11 |
61,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R4861:Slc47a2
|
UTSW |
11 |
61,227,059 (GRCm39) |
missense |
probably benign |
0.00 |
R4862:Slc47a2
|
UTSW |
11 |
61,204,520 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4985:Slc47a2
|
UTSW |
11 |
61,193,059 (GRCm39) |
missense |
probably benign |
|
R5419:Slc47a2
|
UTSW |
11 |
61,198,412 (GRCm39) |
missense |
probably benign |
|
R5593:Slc47a2
|
UTSW |
11 |
61,233,486 (GRCm39) |
missense |
probably benign |
0.00 |
R7105:Slc47a2
|
UTSW |
11 |
61,233,269 (GRCm39) |
missense |
probably benign |
0.07 |
R7358:Slc47a2
|
UTSW |
11 |
61,199,699 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7522:Slc47a2
|
UTSW |
11 |
61,193,076 (GRCm39) |
missense |
probably benign |
0.14 |
R8743:Slc47a2
|
UTSW |
11 |
61,233,588 (GRCm39) |
missense |
probably benign |
0.03 |
R8916:Slc47a2
|
UTSW |
11 |
61,193,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R9060:Slc47a2
|
UTSW |
11 |
61,227,699 (GRCm39) |
missense |
probably benign |
0.00 |
R9383:Slc47a2
|
UTSW |
11 |
61,227,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R9484:Slc47a2
|
UTSW |
11 |
61,227,060 (GRCm39) |
missense |
possibly damaging |
0.46 |
Z1176:Slc47a2
|
UTSW |
11 |
61,216,715 (GRCm39) |
missense |
probably benign |
0.28 |
Z1177:Slc47a2
|
UTSW |
11 |
61,219,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |