Incidental Mutation 'IGL03278:Slc38a9'
ID |
415504 |
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? |
Probably non essential
(E-score: 0.233)
|
Stock # |
IGL03278
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
112797285-112875283 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 112826052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152914
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052514]
[ENSMUST00000223581]
|
AlphaFold |
Q8BGD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052514
|
SMART Domains |
Protein: ENSMUSP00000052172 Gene: ENSMUSG00000047789
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 |
probably benign
Transcript: ENSMUST00000223581
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223839
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224584
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,205,599 (GRCm39) |
|
probably benign |
Het |
Acss2 |
A |
G |
2: 155,403,921 (GRCm39) |
D676G |
possibly damaging |
Het |
Antxr1 |
A |
G |
6: 87,181,439 (GRCm39) |
|
probably benign |
Het |
Ccdc134 |
C |
T |
15: 82,015,682 (GRCm39) |
A54V |
possibly damaging |
Het |
Ccdc40 |
A |
T |
11: 119,133,336 (GRCm39) |
I465F |
probably damaging |
Het |
Cdk5rap1 |
A |
T |
2: 154,212,622 (GRCm39) |
S79T |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,586,651 (GRCm39) |
E1790G |
probably benign |
Het |
Cops8 |
C |
A |
1: 90,532,087 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,536,124 (GRCm39) |
T2640A |
probably benign |
Het |
F2 |
G |
A |
2: 91,465,527 (GRCm39) |
A86V |
probably benign |
Het |
Fhip1b |
C |
A |
7: 105,034,331 (GRCm39) |
M433I |
possibly damaging |
Het |
Gabrb1 |
T |
G |
5: 72,026,939 (GRCm39) |
D113E |
probably damaging |
Het |
Git2 |
C |
A |
5: 114,883,640 (GRCm39) |
|
probably benign |
Het |
Git2 |
A |
T |
5: 114,883,641 (GRCm39) |
|
probably null |
Het |
Gm4847 |
A |
T |
1: 166,462,605 (GRCm39) |
I295N |
probably benign |
Het |
H2-M10.6 |
C |
A |
17: 37,124,715 (GRCm39) |
H211N |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,793,270 (GRCm39) |
|
probably benign |
Het |
Larp1 |
T |
C |
11: 57,934,882 (GRCm39) |
|
probably benign |
Het |
Lrguk |
A |
G |
6: 34,093,381 (GRCm39) |
E634G |
possibly damaging |
Het |
Nanog |
A |
G |
6: 122,688,704 (GRCm39) |
Y95C |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nfe2l1 |
C |
A |
11: 96,713,018 (GRCm39) |
R55L |
probably benign |
Het |
Or1f19 |
C |
T |
16: 3,410,971 (GRCm39) |
A237V |
possibly damaging |
Het |
Pkmyt1 |
A |
G |
17: 23,953,221 (GRCm39) |
E259G |
probably damaging |
Het |
Pld4 |
A |
G |
12: 112,733,165 (GRCm39) |
N247S |
probably damaging |
Het |
Prdm4 |
A |
T |
10: 85,743,622 (GRCm39) |
M211K |
probably damaging |
Het |
Rab37 |
A |
C |
11: 115,050,517 (GRCm39) |
I121L |
possibly damaging |
Het |
Rabl6 |
T |
C |
2: 25,473,834 (GRCm39) |
|
probably benign |
Het |
Slc34a3 |
A |
T |
2: 25,122,059 (GRCm39) |
V154E |
probably benign |
Het |
Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
Stk24 |
T |
C |
14: 121,540,182 (GRCm39) |
K139R |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,335,298 (GRCm39) |
|
probably null |
Het |
Tap1 |
A |
T |
17: 34,410,457 (GRCm39) |
K378M |
probably damaging |
Het |
Tfr2 |
A |
T |
5: 137,569,298 (GRCm39) |
R10* |
probably null |
Het |
Trim38 |
A |
G |
13: 23,974,979 (GRCm39) |
D306G |
possibly damaging |
Het |
Ttc6 |
A |
T |
12: 57,668,812 (GRCm39) |
K418I |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,581,313 (GRCm39) |
L3731Q |
probably damaging |
Het |
Vmn2r89 |
A |
T |
14: 51,692,557 (GRCm39) |
Y120F |
probably damaging |
Het |
Vps35 |
A |
T |
8: 86,021,590 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slc38a9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Slc38a9
|
APN |
13 |
112,838,152 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
2016-08-02 |