Incidental Mutation 'IGL03211:Slc38a2'
ID |
413316 |
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 # |
IGL03211
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
96585273-96597611 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 96596153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023099]
|
AlphaFold |
Q8CFE6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023099
|
SMART Domains |
Protein: ENSMUSP00000023099 Gene: ENSMUSG00000022462
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: ENSMUST00000192790
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp7 |
C |
T |
2: 172,714,676 (GRCm39) |
V378I |
possibly damaging |
Het |
Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
Cysltr2 |
A |
T |
14: 73,267,155 (GRCm39) |
M185K |
possibly damaging |
Het |
Dcaf6 |
A |
G |
1: 165,250,502 (GRCm39) |
F121L |
possibly damaging |
Het |
Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
Elavl3 |
A |
G |
9: 21,929,974 (GRCm39) |
V310A |
probably damaging |
Het |
Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
Klhl32 |
C |
T |
4: 24,792,616 (GRCm39) |
|
probably null |
Het |
Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,492 (GRCm39) |
H666R |
probably damaging |
Het |
Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
Rdh7 |
T |
C |
10: 127,723,492 (GRCm39) |
N121S |
probably benign |
Het |
Ric8b |
T |
A |
10: 84,837,657 (GRCm39) |
I488N |
probably damaging |
Het |
Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
Zfp780b |
A |
T |
7: 27,662,600 (GRCm39) |
C652S |
possibly damaging |
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 |
|
IGL01522:Slc38a2
|
APN |
15 |
96,590,936 (GRCm39) |
missense |
possibly damaging |
0.78 |
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 |
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 |
2016-08-02 |