Incidental Mutation 'IGL00427:Slc38a9'
| ID |
332393 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc38a9
|
| Ensembl Gene |
ENSMUSG00000047789 |
| Gene Name |
solute carrier family 38, member 9 |
| Synonyms |
9430067K09Rik, 9130023D20Rik, 4833412L08Rik, 6720411P22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
IGL00427
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
112797285-112875283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112838152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 306
(S306T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052514]
|
| AlphaFold |
Q8BGD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052514
AA Change: S306T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052172
Gene: ENSMUSG00000047789
AA Change: S306T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
114 |
253 |
4.5e-17 |
PFAM |
|
Pfam:Aa_trans
|
266 |
560 |
2.5e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224669
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
A |
G |
12: 4,244,357 (GRCm39) |
D289G |
probably damaging |
Het |
| Adnp |
C |
T |
2: 168,024,482 (GRCm39) |
D938N |
probably benign |
Het |
| Arpin |
T |
A |
7: 79,577,423 (GRCm39) |
N208I |
probably benign |
Het |
| Cby3 |
A |
G |
11: 50,248,638 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
A |
T |
1: 63,222,497 (GRCm39) |
I246N |
probably damaging |
Het |
| Cnih4 |
T |
A |
1: 180,981,312 (GRCm39) |
S28T |
probably damaging |
Het |
| D130052B06Rik |
G |
T |
11: 33,573,558 (GRCm39) |
V97L |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,407,631 (GRCm39) |
E2067G |
probably damaging |
Het |
| Dennd6a |
C |
T |
14: 26,329,768 (GRCm39) |
T113I |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,882,305 (GRCm39) |
F1590L |
possibly damaging |
Het |
| Dop1a |
G |
T |
9: 86,403,553 (GRCm39) |
Q1582H |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,403,552 (GRCm39) |
Q1582L |
probably damaging |
Het |
| Dop1a |
C |
A |
9: 86,403,551 (GRCm39) |
Q1582K |
possibly damaging |
Het |
| Ebna1bp2 |
A |
T |
4: 118,483,018 (GRCm39) |
K291M |
probably damaging |
Het |
| Evpl |
G |
T |
11: 116,125,331 (GRCm39) |
Q73K |
probably benign |
Het |
| Fam131b |
G |
T |
6: 42,295,895 (GRCm39) |
T139K |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,368,753 (GRCm39) |
T1358A |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,783,484 (GRCm39) |
D265N |
probably benign |
Het |
| Homer1 |
A |
G |
13: 93,538,622 (GRCm39) |
N333S |
probably benign |
Het |
| Igkv17-134 |
A |
T |
6: 67,697,968 (GRCm39) |
|
probably benign |
Het |
| Il16 |
T |
C |
7: 83,301,666 (GRCm39) |
D152G |
probably benign |
Het |
| Ireb2 |
T |
C |
9: 54,806,766 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
C |
T |
10: 77,393,790 (GRCm39) |
T410I |
probably benign |
Het |
| Kctd14 |
C |
A |
7: 97,106,919 (GRCm39) |
A111E |
possibly damaging |
Het |
| Lmod3 |
A |
C |
6: 97,229,258 (GRCm39) |
V92G |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,070,973 (GRCm39) |
D83G |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,111,691 (GRCm39) |
E1682G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,750,342 (GRCm39) |
|
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,754,087 (GRCm39) |
N99D |
probably benign |
Het |
| P2rx3 |
A |
G |
2: 84,865,616 (GRCm39) |
Y10H |
probably damaging |
Het |
| Pcsk7 |
C |
A |
9: 45,838,958 (GRCm39) |
D623E |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,297,980 (GRCm39) |
I1766T |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,885,353 (GRCm39) |
Y691C |
probably damaging |
Het |
| Rec8 |
A |
T |
14: 55,856,108 (GRCm39) |
T17S |
probably damaging |
Het |
| Rtraf-ps |
A |
C |
3: 88,484,230 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,804,162 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
T |
G |
9: 75,570,519 (GRCm39) |
K345T |
probably damaging |
Het |
| Serpina3b |
A |
T |
12: 104,099,200 (GRCm39) |
K238N |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,382,547 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,243 (GRCm39) |
Y57F |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,258,501 (GRCm39) |
S548T |
probably damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,247,309 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc38a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01950:Slc38a9
|
APN |
13 |
112,831,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01955:Slc38a9
|
APN |
13 |
112,831,952 (GRCm39) |
splice site |
probably benign |
|
|
IGL02352:Slc38a9
|
APN |
13 |
112,826,720 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02359:Slc38a9
|
APN |
13 |
112,826,720 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02407:Slc38a9
|
APN |
13 |
112,826,777 (GRCm39) |
missense |
probably benign |
|
|
IGL02511:Slc38a9
|
APN |
13 |
112,834,541 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02588:Slc38a9
|
APN |
13 |
112,834,511 (GRCm39) |
splice site |
probably null |
|
|
IGL03278:Slc38a9
|
APN |
13 |
112,826,052 (GRCm39) |
splice site |
probably benign |
|
|
R0126:Slc38a9
|
UTSW |
13 |
112,865,791 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0553:Slc38a9
|
UTSW |
13 |
112,850,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Slc38a9
|
UTSW |
13 |
112,865,730 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0699:Slc38a9
|
UTSW |
13 |
112,859,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Slc38a9
|
UTSW |
13 |
112,838,193 (GRCm39) |
splice site |
probably benign |
|
|
R1142:Slc38a9
|
UTSW |
13 |
112,850,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Slc38a9
|
UTSW |
13 |
112,826,714 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1418:Slc38a9
|
UTSW |
13 |
112,826,714 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4223:Slc38a9
|
UTSW |
13 |
112,850,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4344:Slc38a9
|
UTSW |
13 |
112,865,749 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4824:Slc38a9
|
UTSW |
13 |
112,859,832 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4872:Slc38a9
|
UTSW |
13 |
112,826,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Slc38a9
|
UTSW |
13 |
112,831,856 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5844:Slc38a9
|
UTSW |
13 |
112,868,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Slc38a9
|
UTSW |
13 |
112,806,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Slc38a9
|
UTSW |
13 |
112,806,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Slc38a9
|
UTSW |
13 |
112,825,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Slc38a9
|
UTSW |
13 |
112,831,801 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6175:Slc38a9
|
UTSW |
13 |
112,840,093 (GRCm39) |
nonsense |
probably null |
|
|
R6324:Slc38a9
|
UTSW |
13 |
112,862,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6747:Slc38a9
|
UTSW |
13 |
112,826,714 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6920:Slc38a9
|
UTSW |
13 |
112,838,060 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7342:Slc38a9
|
UTSW |
13 |
112,806,125 (GRCm39) |
start gained |
probably benign |
|
|
R7592:Slc38a9
|
UTSW |
13 |
112,831,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Slc38a9
|
UTSW |
13 |
112,825,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7860:Slc38a9
|
UTSW |
13 |
112,868,148 (GRCm39) |
missense |
probably benign |
|
|
R8742:Slc38a9
|
UTSW |
13 |
112,865,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8799:Slc38a9
|
UTSW |
13 |
112,840,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Slc38a9
|
UTSW |
13 |
112,838,021 (GRCm39) |
missense |
probably benign |
|
|
R8846:Slc38a9
|
UTSW |
13 |
112,859,814 (GRCm39) |
nonsense |
probably null |
|
|
R9112:Slc38a9
|
UTSW |
13 |
112,850,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9221:Slc38a9
|
UTSW |
13 |
112,825,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9780:Slc38a9
|
UTSW |
13 |
112,862,591 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-08-05 |
Incidental Mutation