Incidental Mutation 'IGL01522:Slc38a2'
| ID |
89430 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc38a2
|
| Ensembl Gene |
ENSMUSG00000022462 |
| Gene Name |
solute carrier family 38, member 2 |
| Synonyms |
SNAT2, 5033402L14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
IGL01522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
96585273-96597611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96590936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 276
(D276N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023099]
|
| AlphaFold |
Q8CFE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023099
AA Change: D276N
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023099
Gene: ENSMUSG00000022462
AA Change: D276N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
30 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
69 |
492 |
2e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229141
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(18) : Targeted(2) Gene trapped(16)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
C |
15: 11,065,245 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,850,802 (GRCm39) |
N579S |
probably benign |
Het |
| Akr1c19 |
A |
G |
13: 4,289,098 (GRCm39) |
|
probably benign |
Het |
| Ankrd39 |
T |
A |
1: 36,581,142 (GRCm39) |
H69L |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,085,186 (GRCm39) |
M461K |
possibly damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,979,502 (GRCm39) |
C209Y |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,957,989 (GRCm39) |
E779G |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,879,566 (GRCm39) |
Q394R |
probably damaging |
Het |
| Cep85 |
G |
T |
4: 133,879,567 (GRCm39) |
Q394K |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,101,992 (GRCm39) |
Y364C |
probably benign |
Het |
| Fetub |
G |
A |
16: 22,748,391 (GRCm39) |
M1I |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,751,202 (GRCm39) |
I1003V |
probably damaging |
Het |
| Hsf3 |
A |
G |
X: 95,364,200 (GRCm39) |
|
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,312 (GRCm39) |
N358S |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,493,888 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,059,769 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,258,603 (GRCm39) |
V50A |
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,692,229 (GRCm39) |
W35R |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,806,320 (GRCm39) |
V578A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,638,721 (GRCm39) |
E42G |
probably damaging |
Het |
| Or1j15 |
A |
G |
2: 36,459,233 (GRCm39) |
T208A |
probably benign |
Het |
| Or52b4 |
A |
T |
7: 102,184,391 (GRCm39) |
I146F |
probably damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,360 (GRCm39) |
K307E |
possibly damaging |
Het |
| Or8g21 |
A |
T |
9: 38,906,396 (GRCm39) |
C112S |
probably benign |
Het |
| Or9i16 |
A |
T |
19: 13,864,722 (GRCm39) |
L284* |
probably null |
Het |
| Pcdha11 |
T |
C |
18: 37,318,061 (GRCm39) |
F925L |
probably damaging |
Het |
| Pdcd1 |
T |
G |
1: 93,968,571 (GRCm39) |
R154S |
probably benign |
Het |
| Pepd |
T |
A |
7: 34,623,865 (GRCm39) |
D87E |
probably benign |
Het |
| Pfn4 |
A |
G |
12: 4,820,240 (GRCm39) |
T30A |
probably benign |
Het |
| Pgpep1l |
A |
G |
7: 67,887,456 (GRCm39) |
M48T |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,889,748 (GRCm39) |
N340S |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,844,547 (GRCm39) |
D155G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,622,956 (GRCm39) |
G499S |
probably damaging |
Het |
| Plin3 |
C |
T |
17: 56,587,799 (GRCm39) |
W305* |
probably null |
Het |
| Polq |
C |
A |
16: 36,848,265 (GRCm39) |
L291I |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,532,865 (GRCm39) |
|
probably null |
Het |
| Sdf2l1 |
T |
A |
16: 16,950,014 (GRCm39) |
H54L |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,797,097 (GRCm39) |
T576A |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,339 (GRCm39) |
V302I |
probably benign |
Het |
| Uso1 |
T |
C |
5: 92,329,278 (GRCm39) |
F389L |
probably damaging |
Het |
| Wwc2 |
T |
A |
8: 48,321,668 (GRCm39) |
Y482F |
unknown |
Het |
|
| Other mutations in Slc38a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01116:Slc38a2
|
APN |
15 |
96,591,066 (GRCm39) |
splice site |
probably benign |
|
|
IGL01679:Slc38a2
|
APN |
15 |
96,595,835 (GRCm39) |
nonsense |
probably null |
|
|
IGL01720:Slc38a2
|
APN |
15 |
96,589,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02198:Slc38a2
|
APN |
15 |
96,590,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02685:Slc38a2
|
APN |
15 |
96,589,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03211:Slc38a2
|
APN |
15 |
96,596,153 (GRCm39) |
splice site |
probably null |
|
|
P0014:Slc38a2
|
UTSW |
15 |
96,588,042 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0068:Slc38a2
|
UTSW |
15 |
96,589,173 (GRCm39) |
splice site |
probably null |
|
|
R0068:Slc38a2
|
UTSW |
15 |
96,589,173 (GRCm39) |
splice site |
probably null |
|
|
R0684:Slc38a2
|
UTSW |
15 |
96,593,168 (GRCm39) |
nonsense |
probably null |
|
|
R1537:Slc38a2
|
UTSW |
15 |
96,591,034 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1638:Slc38a2
|
UTSW |
15 |
96,590,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Slc38a2
|
UTSW |
15 |
96,589,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2294:Slc38a2
|
UTSW |
15 |
96,589,643 (GRCm39) |
missense |
probably benign |
|
|
R4672:Slc38a2
|
UTSW |
15 |
96,596,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5799:Slc38a2
|
UTSW |
15 |
96,592,970 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5878:Slc38a2
|
UTSW |
15 |
96,590,465 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6188:Slc38a2
|
UTSW |
15 |
96,590,397 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7097:Slc38a2
|
UTSW |
15 |
96,591,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7122:Slc38a2
|
UTSW |
15 |
96,591,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7130:Slc38a2
|
UTSW |
15 |
96,589,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Slc38a2
|
UTSW |
15 |
96,589,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Slc38a2
|
UTSW |
15 |
96,588,033 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7896:Slc38a2
|
UTSW |
15 |
96,591,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Slc38a2
|
UTSW |
15 |
96,590,453 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8427:Slc38a2
|
UTSW |
15 |
96,590,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8487:Slc38a2
|
UTSW |
15 |
96,593,172 (GRCm39) |
nonsense |
probably null |
|
|
R8845:Slc38a2
|
UTSW |
15 |
96,592,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Slc38a2
|
UTSW |
15 |
96,591,053 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9606:Slc38a2
|
UTSW |
15 |
96,591,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation