Incidental Mutation 'IGL01681:Slc47a2'
ID |
103795 |
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 # |
IGL01681
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
61192457-61233686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61228866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 104
(A104T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093029]
[ENSMUST00000134423]
|
AlphaFold |
Q3V050 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082784
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093029
AA Change: A104T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000090710 Gene: ENSMUSG00000069855 AA Change: A104T
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: A104T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120907 Gene: ENSMUSG00000069855 AA Change: A104T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147450
|
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 |
Adnp2 |
T |
A |
18: 80,171,103 (GRCm39) |
E1102V |
probably damaging |
Het |
Appl2 |
T |
A |
10: 83,450,165 (GRCm39) |
I236F |
possibly damaging |
Het |
Asb15 |
C |
A |
6: 24,567,137 (GRCm39) |
T486K |
probably damaging |
Het |
Bsdc1 |
T |
C |
4: 129,359,141 (GRCm39) |
|
probably null |
Het |
Cts8 |
G |
T |
13: 61,401,433 (GRCm39) |
Q61K |
probably benign |
Het |
Cyp2d34 |
C |
T |
15: 82,501,332 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
G |
14: 26,443,315 (GRCm39) |
T575A |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,142,196 (GRCm39) |
|
probably null |
Het |
Fam170a |
A |
G |
18: 50,415,302 (GRCm39) |
D316G |
possibly damaging |
Het |
Gtf2h3 |
T |
A |
5: 124,732,854 (GRCm39) |
L216Q |
probably damaging |
Het |
Heatr6 |
T |
A |
11: 83,655,826 (GRCm39) |
S306T |
probably benign |
Het |
Hey2 |
A |
G |
10: 30,710,133 (GRCm39) |
S207P |
probably benign |
Het |
Kng2 |
T |
A |
16: 22,815,767 (GRCm39) |
|
probably benign |
Het |
Lama2 |
C |
T |
10: 27,141,041 (GRCm39) |
E653K |
probably benign |
Het |
Lrrcc1 |
T |
C |
3: 14,613,286 (GRCm39) |
V37A |
probably benign |
Het |
Neb |
T |
C |
2: 52,091,498 (GRCm39) |
D5085G |
probably damaging |
Het |
Nexn |
T |
C |
3: 151,949,507 (GRCm39) |
M321V |
possibly damaging |
Het |
Nsmce3 |
A |
G |
7: 64,522,221 (GRCm39) |
I149T |
probably benign |
Het |
Oxct1 |
T |
G |
15: 4,131,326 (GRCm39) |
S405A |
possibly damaging |
Het |
Pdpr |
T |
A |
8: 111,859,568 (GRCm39) |
N703K |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,523,143 (GRCm39) |
D83E |
probably damaging |
Het |
Slc4a2 |
A |
G |
5: 24,639,185 (GRCm39) |
I393V |
probably damaging |
Het |
Thoc6 |
A |
T |
17: 23,888,857 (GRCm39) |
L184M |
possibly damaging |
Het |
Tjp2 |
C |
T |
19: 24,112,213 (GRCm39) |
|
probably null |
Het |
Tmem63b |
A |
G |
17: 45,974,497 (GRCm39) |
L591P |
probably damaging |
Het |
Tnrc6b |
A |
G |
15: 80,763,512 (GRCm39) |
|
probably null |
Het |
Trmt5 |
G |
T |
12: 73,329,377 (GRCm39) |
|
probably benign |
Het |
Ubap1l |
T |
A |
9: 65,281,201 (GRCm39) |
M293K |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,099,935 (GRCm39) |
E211G |
probably damaging |
Het |
Zbbx |
A |
C |
3: 74,959,785 (GRCm39) |
Y595D |
probably damaging |
Het |
Zc3h10 |
G |
A |
10: 128,381,109 (GRCm39) |
Q83* |
probably null |
Het |
Zcchc3 |
T |
C |
2: 152,255,925 (GRCm39) |
N258S |
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 |
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 |
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 |
2014-01-21 |