Incidental Mutation 'IGL02880:Slc47a2'
| ID |
362768 |
| 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 # |
IGL02880
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61192457-61233686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61198366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 443
(G443E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093029]
[ENSMUST00000134423]
|
| AlphaFold |
Q3V050 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093029
AA Change: G443E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: G443E
| 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 benign
Transcript: ENSMUST00000134423
AA Change: G443E
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: G443E
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankzf1 |
T |
C |
1: 75,169,312 (GRCm39) |
S73P |
probably benign |
Het |
| Camsap3 |
T |
C |
8: 3,653,913 (GRCm39) |
Y517H |
probably damaging |
Het |
| Catsperg1 |
C |
T |
7: 28,894,910 (GRCm39) |
M562I |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,283,310 (GRCm39) |
D7G |
probably benign |
Het |
| Ccdc65 |
A |
C |
15: 98,606,973 (GRCm39) |
N60T |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Col19a1 |
A |
G |
1: 24,365,054 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
T |
C |
9: 44,524,194 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
G |
A |
6: 5,966,821 (GRCm39) |
|
probably null |
Het |
| Eml6 |
T |
C |
11: 29,699,959 (GRCm39) |
N1726D |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,660,640 (GRCm39) |
S706P |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,741,071 (GRCm39) |
P497S |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,257,306 (GRCm39) |
E477G |
probably benign |
Het |
| Gatd1 |
T |
G |
7: 140,990,951 (GRCm39) |
Q65H |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lag3 |
A |
G |
6: 124,882,434 (GRCm39) |
L354S |
probably benign |
Het |
| Lrp1 |
A |
C |
10: 127,376,091 (GRCm39) |
V4342G |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,651,517 (GRCm39) |
I491V |
probably benign |
Het |
| Scrib |
A |
G |
15: 75,937,973 (GRCm39) |
L291P |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 54,019,525 (GRCm39) |
Y523H |
probably benign |
Het |
| Smarca2 |
T |
A |
19: 26,654,024 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
C |
T |
4: 45,885,278 (GRCm39) |
T582M |
possibly damaging |
Het |
| Tmem144 |
G |
A |
3: 79,734,929 (GRCm39) |
T163I |
probably benign |
Het |
| Tnfrsf17 |
T |
C |
16: 11,137,622 (GRCm39) |
Y120H |
probably damaging |
Het |
| Tspan3 |
G |
T |
9: 56,053,800 (GRCm39) |
Q184K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,628,270 (GRCm39) |
V14630D |
possibly damaging |
Het |
| Zfp236 |
T |
A |
18: 82,642,584 (GRCm39) |
N1054I |
probably benign |
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 |
|
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 |
|
IGL03236:Slc47a2
|
APN |
11 |
61,204,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation