Incidental Mutation 'IGL01955:Slc38a9'
| ID |
181435 |
| 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 # |
IGL01955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
112797285-112875283 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 112831952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052514]
|
| 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 |
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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
T |
7: 29,273,420 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc1 |
T |
A |
16: 14,228,659 (GRCm39) |
I302N |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,320,316 (GRCm39) |
S394G |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,330,902 (GRCm39) |
Y71C |
probably damaging |
Het |
| Apol8 |
A |
G |
15: 77,633,899 (GRCm39) |
C226R |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,664,471 (GRCm39) |
S45P |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,529,149 (GRCm39) |
Y1575C |
probably damaging |
Het |
| Cckbr |
T |
A |
7: 105,084,169 (GRCm39) |
V301E |
probably damaging |
Het |
| Cwc27 |
A |
G |
13: 104,944,245 (GRCm39) |
Y79H |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,406,798 (GRCm39) |
T2236A |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,482,962 (GRCm39) |
R36G |
probably benign |
Het |
| Extl3 |
T |
A |
14: 65,313,415 (GRCm39) |
Y589F |
probably benign |
Het |
| Gab2 |
T |
C |
7: 96,953,430 (GRCm39) |
V601A |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,463 (GRCm39) |
N176I |
probably benign |
Het |
| L3mbtl3 |
A |
T |
10: 26,194,336 (GRCm39) |
S420R |
unknown |
Het |
| Odad2 |
C |
T |
18: 7,127,291 (GRCm39) |
R974Q |
possibly damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,955 (GRCm39) |
S143P |
probably damaging |
Het |
| Or52e2 |
T |
A |
7: 102,804,061 (GRCm39) |
K298* |
probably null |
Het |
| Or5g23 |
A |
G |
2: 85,439,051 (GRCm39) |
F68L |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,632,674 (GRCm39) |
D974G |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,314,644 (GRCm39) |
K13E |
possibly damaging |
Het |
| Ptprk |
A |
G |
10: 28,471,861 (GRCm39) |
|
probably benign |
Het |
| Rassf3 |
T |
C |
10: 121,253,027 (GRCm39) |
Y60C |
probably damaging |
Het |
| Rnf157 |
T |
C |
11: 116,250,722 (GRCm39) |
T160A |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,585,732 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
G |
9: 110,378,386 (GRCm39) |
T734A |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,480,933 (GRCm39) |
|
probably null |
Het |
| Snx17 |
T |
G |
5: 31,354,426 (GRCm39) |
|
probably benign |
Het |
| Tas2r113 |
A |
T |
6: 132,870,817 (GRCm39) |
M282L |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,805,766 (GRCm39) |
N404D |
probably benign |
Het |
| Tmem63c |
A |
T |
12: 87,123,982 (GRCm39) |
I487F |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,995,742 (GRCm39) |
M164V |
probably benign |
Het |
| Trafd1 |
G |
T |
5: 121,513,217 (GRCm39) |
N340K |
probably benign |
Het |
| Trpv4 |
T |
A |
5: 114,760,743 (GRCm39) |
K863* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,627,696 (GRCm39) |
M13003K |
possibly damaging |
Het |
| Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,614,034 (GRCm39) |
T272A |
probably benign |
Het |
| Vmn1r82 |
A |
C |
7: 12,039,650 (GRCm39) |
|
probably null |
Het |
| Zc3h7b |
A |
G |
15: 81,676,205 (GRCm39) |
N704D |
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 |
|
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 |
2014-05-07 |
Incidental Mutation