Incidental Mutation 'R1036:Slc38a9'
ID |
93815 |
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 |
039135-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.233)
|
Stock # |
R1036 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
112797285-112875283 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 112838193 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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,437,513 (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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCACGCTCTTGCTTTCACAG -3'
(R):5'- TGGGTTTGATCCCAAAGACCACAC -3'
Sequencing Primer
(F):5'- GCTCTTGCTTTCACAGTGATATG -3'
(R):5'- AAGCAGCTCAGAACAGTAGG -3'
|
Posted On |
2014-01-05 |