Incidental Mutation 'IGL02511:Slc38a9'
ID |
296553 |
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 # |
IGL02511
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
112797285-112875283 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 112834541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 239
(D239E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052514]
|
AlphaFold |
Q8BGD6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052514
AA Change: D239E
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000052172 Gene: ENSMUSG00000047789 AA Change: D239E
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accsl |
A |
T |
2: 93,692,111 (GRCm39) |
|
probably benign |
Het |
Adam3 |
T |
A |
8: 25,185,192 (GRCm39) |
D502V |
probably damaging |
Het |
Adss2 |
T |
C |
1: 177,598,700 (GRCm39) |
|
probably benign |
Het |
Ankrd36 |
T |
A |
11: 5,610,845 (GRCm39) |
|
probably null |
Het |
Atf6b |
T |
C |
17: 34,873,615 (GRCm39) |
S692P |
probably benign |
Het |
Cap2 |
T |
C |
13: 46,684,498 (GRCm39) |
M1T |
probably null |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cntn1 |
A |
T |
15: 92,114,266 (GRCm39) |
|
probably benign |
Het |
Copg2 |
A |
T |
6: 30,835,757 (GRCm39) |
F218Y |
probably benign |
Het |
Dll4 |
G |
A |
2: 119,156,947 (GRCm39) |
G73E |
probably damaging |
Het |
Dzip3 |
T |
C |
16: 48,757,343 (GRCm39) |
M897V |
possibly damaging |
Het |
Ehbp1 |
T |
C |
11: 22,039,653 (GRCm39) |
R816G |
probably damaging |
Het |
Enoph1 |
T |
C |
5: 100,208,894 (GRCm39) |
L83P |
probably benign |
Het |
Enpep |
A |
G |
3: 129,115,059 (GRCm39) |
S238P |
probably damaging |
Het |
Fermt1 |
A |
C |
2: 132,775,086 (GRCm39) |
|
probably benign |
Het |
Gm6619 |
T |
A |
6: 131,467,330 (GRCm39) |
I65K |
possibly damaging |
Het |
Krtap31-2 |
T |
A |
11: 99,827,518 (GRCm39) |
C117S |
possibly damaging |
Het |
Ksr1 |
T |
C |
11: 78,936,046 (GRCm39) |
D106G |
possibly damaging |
Het |
Lgr4 |
A |
T |
2: 109,841,617 (GRCm39) |
Y534F |
probably benign |
Het |
Mamdc2 |
T |
C |
19: 23,356,095 (GRCm39) |
T118A |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,723,975 (GRCm39) |
I170N |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,115,743 (GRCm39) |
S53P |
probably benign |
Het |
Npl |
T |
A |
1: 153,391,227 (GRCm39) |
D176V |
probably damaging |
Het |
Nrm |
T |
C |
17: 36,172,316 (GRCm39) |
S14P |
probably damaging |
Het |
Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
Or5p70 |
T |
A |
7: 107,995,265 (GRCm39) |
F313I |
probably benign |
Het |
Or5v1b |
A |
G |
17: 37,840,870 (GRCm39) |
M1V |
probably null |
Het |
Papola |
T |
A |
12: 105,775,604 (GRCm39) |
C204S |
probably damaging |
Het |
Pard3 |
A |
T |
8: 127,888,070 (GRCm39) |
|
probably benign |
Het |
Pdzd4 |
T |
A |
X: 72,838,206 (GRCm39) |
M701L |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,143,731 (GRCm39) |
V3865E |
possibly damaging |
Het |
Plxna3 |
C |
A |
X: 73,378,991 (GRCm39) |
Q712K |
probably damaging |
Het |
Pon1 |
A |
G |
6: 5,193,724 (GRCm39) |
L9P |
probably damaging |
Het |
Pygm |
A |
T |
19: 6,435,718 (GRCm39) |
I83F |
probably benign |
Het |
Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
Serpina1a |
C |
T |
12: 103,822,226 (GRCm39) |
W212* |
probably null |
Het |
Smad6 |
A |
G |
9: 63,860,859 (GRCm39) |
F479L |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,297,251 (GRCm39) |
S48P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,768,034 (GRCm39) |
M3022L |
unknown |
Het |
Tulp1 |
C |
A |
17: 28,575,142 (GRCm39) |
R441L |
probably benign |
Het |
Ugt1a10 |
T |
C |
1: 87,983,585 (GRCm39) |
F128L |
probably damaging |
Het |
Ulk4 |
A |
G |
9: 121,017,420 (GRCm39) |
V686A |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,475,884 (GRCm39) |
|
probably null |
Het |
Ushbp1 |
T |
C |
8: 71,843,581 (GRCm39) |
M286V |
probably null |
Het |
Usp51 |
T |
G |
X: 151,791,726 (GRCm39) |
I440R |
probably damaging |
Het |
Wee1 |
G |
T |
7: 109,738,483 (GRCm39) |
R532L |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,464,243 (GRCm39) |
E1467G |
probably damaging |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zfp551 |
A |
G |
7: 12,150,602 (GRCm39) |
V269A |
possibly damaging |
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 |
|
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 |
2015-04-16 |