Incidental Mutation 'IGL03068:Slc47a2'
| ID |
409783 |
| 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 # |
IGL03068
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61192457-61233686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61194769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 470
(N470S)
|
| 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: N470S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: N470S
| 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 |
possibly damaging
Transcript: ENSMUST00000134423
AA Change: N470S
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: N470S
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
A |
G |
4: 126,311,171 (GRCm39) |
L14P |
probably damaging |
Het |
| Ak2 |
G |
T |
4: 128,901,819 (GRCm39) |
|
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,092,246 (GRCm39) |
Y311C |
probably damaging |
Het |
| Arl9 |
C |
A |
5: 77,155,225 (GRCm39) |
L119I |
possibly damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,491,175 (GRCm39) |
H620R |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,826,682 (GRCm39) |
D381G |
probably benign |
Het |
| Cngb3 |
T |
C |
4: 19,375,246 (GRCm39) |
F292S |
possibly damaging |
Het |
| Comtd1 |
G |
A |
14: 21,897,711 (GRCm39) |
R203C |
probably damaging |
Het |
| Crmp1 |
G |
T |
5: 37,422,633 (GRCm39) |
A147S |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,710,517 (GRCm39) |
H1586L |
possibly damaging |
Het |
| Ctnna1 |
G |
A |
18: 35,382,785 (GRCm39) |
E644K |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,841,958 (GRCm39) |
D957G |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| Eefsec |
G |
T |
6: 88,235,209 (GRCm39) |
Q576K |
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,994,927 (GRCm39) |
I1215L |
probably benign |
Het |
| Etfa |
A |
T |
9: 55,394,766 (GRCm39) |
D160E |
probably benign |
Het |
| Exoc7 |
G |
A |
11: 116,191,960 (GRCm39) |
R197C |
possibly damaging |
Het |
| G6pc1 |
A |
G |
11: 101,261,576 (GRCm39) |
D92G |
probably benign |
Het |
| Gm3182 |
T |
A |
14: 4,483,921 (GRCm38) |
|
probably null |
Het |
| Gm4952 |
A |
G |
19: 12,601,068 (GRCm39) |
N96S |
probably damaging |
Het |
| Gpr156 |
G |
A |
16: 37,812,491 (GRCm39) |
V276M |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,054,974 (GRCm39) |
S1153P |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,086,093 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,112,928 (GRCm39) |
|
probably benign |
Het |
| Mapk4 |
G |
T |
18: 74,103,415 (GRCm39) |
N31K |
probably damaging |
Het |
| Mccc2 |
T |
C |
13: 100,100,319 (GRCm39) |
T357A |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,570 (GRCm39) |
T343A |
probably benign |
Het |
| Myo3b |
G |
T |
2: 70,257,160 (GRCm39) |
|
probably benign |
Het |
| Pald1 |
T |
C |
10: 61,156,963 (GRCm39) |
E829G |
possibly damaging |
Het |
| Pde11a |
A |
G |
2: 75,848,208 (GRCm39) |
I873T |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,348 (GRCm39) |
K638* |
probably null |
Het |
| Sema4d |
A |
G |
13: 51,862,922 (GRCm39) |
S479P |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,037,407 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,987,521 (GRCm39) |
P1604S |
probably benign |
Het |
| Taf8 |
C |
A |
17: 47,812,290 (GRCm39) |
V39L |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,598,941 (GRCm39) |
E309G |
probably benign |
Het |
| Tmem260 |
A |
G |
14: 48,724,371 (GRCm39) |
|
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,571,270 (GRCm39) |
K816M |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 79,052,180 (GRCm39) |
I354V |
probably benign |
Het |
| Ttll3 |
A |
T |
6: 113,386,158 (GRCm39) |
N665Y |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,041 (GRCm39) |
T971A |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,803,137 (GRCm39) |
I349N |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,646,143 (GRCm39) |
T504A |
probably benign |
Het |
| Ythdf3 |
T |
A |
3: 16,258,882 (GRCm39) |
V354E |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,474,677 (GRCm39) |
G13V |
probably 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 |
|
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 |
2016-08-02 |
Incidental Mutation