Incidental Mutation 'R6039:Slc38a9'
| ID |
479369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a9
|
| Ensembl Gene |
ENSMUSG00000047789 |
| Gene Name |
solute carrier family 38, member 9 |
| Synonyms |
9430067K09Rik, 9130023D20Rik, 4833412L08Rik, 6720411P22Rik |
| MMRRC Submission |
043259-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R6039 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
112797285-112875283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112806231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 26
(I26F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052514]
[ENSMUST00000223581]
|
| AlphaFold |
Q8BGD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052514
AA Change: I26F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052172
Gene: ENSMUSG00000047789
AA Change: I26F
| 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 damaging
Transcript: ENSMUST00000223581
AA Change: I26F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224703
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 98.9%
- 10x: 92.2%
- 20x: 71.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
C |
T |
6: 92,885,527 (GRCm39) |
R416Q |
possibly damaging |
Het |
| Adgre1 |
C |
A |
17: 57,713,859 (GRCm39) |
D181E |
probably benign |
Het |
| Arhgap24 |
T |
C |
5: 103,028,652 (GRCm39) |
S183P |
probably damaging |
Het |
| Asb1 |
T |
C |
1: 91,474,748 (GRCm39) |
L90P |
probably damaging |
Het |
| Bmp3 |
T |
C |
5: 99,020,209 (GRCm39) |
F211L |
probably benign |
Het |
| C8a |
A |
G |
4: 104,703,139 (GRCm39) |
I306T |
probably benign |
Het |
| Cdkn3 |
G |
A |
14: 47,007,373 (GRCm39) |
G177R |
probably damaging |
Het |
| Chat |
A |
G |
14: 32,170,984 (GRCm39) |
S172P |
probably damaging |
Het |
| Chd5 |
CAAGAAGAAGAAGAAGAA |
CAAGAAGAAGAAGAA |
4: 152,438,078 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12a |
T |
C |
4: 115,184,420 (GRCm39) |
I265T |
probably damaging |
Het |
| Dlst |
T |
A |
12: 85,165,664 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
T |
9: 20,837,716 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,205,800 (GRCm39) |
E1066K |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fstl1 |
T |
A |
16: 37,641,538 (GRCm39) |
S105T |
probably benign |
Het |
| Gm19410 |
C |
G |
8: 36,276,518 (GRCm39) |
A1725G |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,151,215 (GRCm39) |
N119S |
probably damaging |
Het |
| Il20 |
T |
A |
1: 130,838,478 (GRCm39) |
D73V |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,716,608 (GRCm39) |
I612T |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,359,105 (GRCm39) |
Y1107C |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,792,615 (GRCm39) |
|
probably null |
Het |
| Krt77 |
C |
A |
15: 101,769,351 (GRCm39) |
R470L |
possibly damaging |
Het |
| Muc1 |
T |
C |
3: 89,139,336 (GRCm39) |
Y579H |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,966,132 (GRCm39) |
D396G |
probably damaging |
Het |
| Myom1 |
T |
G |
17: 71,417,746 (GRCm39) |
D1316E |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,912,538 (GRCm39) |
E1083G |
probably benign |
Het |
| Nek9 |
G |
A |
12: 85,359,859 (GRCm39) |
A531V |
probably benign |
Het |
| Nlrp12 |
A |
T |
7: 3,290,002 (GRCm39) |
I170N |
possibly damaging |
Het |
| Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
| Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
| Paqr4 |
T |
C |
17: 23,958,968 (GRCm39) |
D11G |
probably damaging |
Het |
| Parp8 |
A |
G |
13: 117,014,134 (GRCm39) |
S561P |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,306 (GRCm39) |
F179L |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 110,084,876 (GRCm39) |
Q422L |
probably damaging |
Het |
| Pigs |
T |
A |
11: 78,232,651 (GRCm39) |
V495E |
probably damaging |
Het |
| Polh |
C |
T |
17: 46,498,959 (GRCm39) |
R252H |
probably benign |
Het |
| Psg28 |
T |
C |
7: 18,160,107 (GRCm39) |
D363G |
possibly damaging |
Het |
| Ptgir |
A |
T |
7: 16,640,815 (GRCm39) |
I36F |
possibly damaging |
Het |
| Ptprr |
G |
A |
10: 116,072,668 (GRCm39) |
|
probably null |
Het |
| Rax |
C |
T |
18: 66,068,418 (GRCm39) |
G229D |
unknown |
Het |
| Secisbp2l |
T |
A |
2: 125,615,136 (GRCm39) |
H163L |
probably benign |
Het |
| Sf3a2 |
A |
G |
10: 80,637,297 (GRCm39) |
Y45C |
probably damaging |
Het |
| Sgo2a |
C |
T |
1: 58,055,775 (GRCm39) |
T653I |
possibly damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,722,436 (GRCm39) |
I90V |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,803,911 (GRCm39) |
H968Y |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,599,611 (GRCm39) |
T233A |
probably benign |
Het |
| Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
| Trav4-2 |
G |
A |
14: 53,655,866 (GRCm39) |
V8M |
possibly damaging |
Het |
| Ttll5 |
T |
A |
12: 85,878,729 (GRCm39) |
H45Q |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,714,762 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,051,217 (GRCm39) |
F234L |
possibly damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,607,526 (GRCm39) |
|
probably null |
Het |
| Wdr6 |
CTG |
C |
9: 108,450,994 (GRCm39) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,783,291 (GRCm39) |
S997P |
possibly damaging |
Het |
| Zfp853 |
G |
A |
5: 143,274,529 (GRCm39) |
Q364* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-06-26 |
Incidental Mutation