Incidental Mutation 'R4344:Slc38a9'
| ID |
324271 |
| 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 |
041101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R4344 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
112797285-112875283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112865749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 482
(I482T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052514]
|
| AlphaFold |
Q8BGD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052514
AA Change: I482T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000052172
Gene: ENSMUSG00000047789
AA Change: I482T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
114 |
253 |
4.5e-17 |
PFAM |
|
Pfam:Aa_trans
|
266 |
560 |
2.5e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.0986 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,865,829 (GRCm39) |
R5S |
possibly damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,100,151 (GRCm39) |
L316F |
possibly damaging |
Het |
| Ccdc187 |
T |
A |
2: 26,170,681 (GRCm39) |
K599I |
probably damaging |
Het |
| Ccn5 |
G |
A |
2: 163,670,906 (GRCm39) |
V138M |
probably damaging |
Het |
| Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
| Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
| Ces2a |
T |
G |
8: 105,463,766 (GRCm39) |
D159E |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,507,561 (GRCm39) |
A917V |
probably damaging |
Het |
| Dennd6b |
G |
A |
15: 89,072,866 (GRCm39) |
A196V |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,108,141 (GRCm39) |
S475P |
possibly damaging |
Het |
| Doc2a |
C |
T |
7: 126,450,321 (GRCm39) |
P156S |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,445,722 (GRCm39) |
|
probably null |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Klk1b8 |
C |
A |
7: 43,595,186 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
A |
6: 112,264,968 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,873,051 (GRCm39) |
I2750K |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,590,666 (GRCm39) |
N2958S |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,591,106 (GRCm39) |
V163I |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,585,886 (GRCm39) |
W2475R |
probably damaging |
Het |
| Rad54l |
C |
T |
4: 115,954,551 (GRCm39) |
C684Y |
probably damaging |
Het |
| Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
| Rasef |
T |
A |
4: 73,663,326 (GRCm39) |
H167L |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,712,886 (GRCm39) |
F165L |
possibly damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,861,667 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,614,756 (GRCm39) |
G278D |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,063,073 (GRCm39) |
A215T |
probably benign |
Het |
| Zmynd15 |
C |
T |
11: 70,351,894 (GRCm39) |
R38* |
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 |
|
|
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'- GTCTCATTACCAGCACTGAGTAG -3'
(R):5'- ACAGTCCCTTCTGTACCAGAG -3'
Sequencing Primer
(F):5'- ACTGAGTAGTGAATTTCAGTTTTGC -3'
(R):5'- ACCAGGGTGTACACTTGAAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation