Incidental Mutation 'IGL02585:Slc38a11'
| ID |
299505 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc38a11
|
| Ensembl Gene |
ENSMUSG00000061171 |
| Gene Name |
solute carrier family 38, member 11 |
| Synonyms |
9330158F14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
65146774-65194378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65166135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 212
(D212G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112420]
[ENSMUST00000152324]
|
| AlphaFold |
Q3USY0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112420
AA Change: D212G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108039
Gene: ENSMUSG00000061171
AA Change: D212G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
32 |
420 |
1.6e-66 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124918
AA Change: D172G
|
| SMART Domains |
Protein: ENSMUSP00000120185
Gene: ENSMUSG00000061171
AA Change: D172G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
26 |
381 |
8.5e-51 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000127623
AA Change: D136G
|
| SMART Domains |
Protein: ENSMUSP00000120737
Gene: ENSMUSG00000061171
AA Change: D136G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
1 |
345 |
1.2e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152324
AA Change: D212G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121205
Gene: ENSMUSG00000061171
AA Change: D212G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
32 |
367 |
4.8e-58 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,592,121 (GRCm39) |
I603T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,855 (GRCm39) |
|
probably null |
Het |
| Atp5me |
T |
C |
5: 108,581,936 (GRCm39) |
Y16C |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,202 (GRCm39) |
|
probably benign |
Het |
| Ccdc83 |
C |
T |
7: 89,886,120 (GRCm39) |
R213Q |
probably damaging |
Het |
| Cd38 |
G |
A |
5: 44,067,644 (GRCm39) |
V292M |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,472,212 (GRCm39) |
S26P |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,964,802 (GRCm39) |
M1K |
probably null |
Het |
| Inmt |
T |
A |
6: 55,150,431 (GRCm39) |
I69F |
probably damaging |
Het |
| Lrrc19 |
A |
T |
4: 94,531,562 (GRCm39) |
S17T |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,366,077 (GRCm39) |
Q1330K |
probably benign |
Het |
| Map4k3 |
C |
A |
17: 80,961,348 (GRCm39) |
|
probably benign |
Het |
| Musk |
A |
G |
4: 58,347,849 (GRCm39) |
T329A |
probably benign |
Het |
| Nhs |
T |
C |
X: 160,624,760 (GRCm39) |
E863G |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,318,329 (GRCm39) |
I125F |
probably benign |
Het |
| Odr4 |
T |
A |
1: 150,239,272 (GRCm39) |
T384S |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,785,241 (GRCm39) |
L825F |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,986,828 (GRCm39) |
H889R |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,763,025 (GRCm39) |
Q381R |
probably benign |
Het |
| Rtn1 |
C |
A |
12: 72,354,929 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,542,648 (GRCm39) |
L3167P |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,433,890 (GRCm39) |
E61K |
probably damaging |
Het |
| Sgce |
A |
G |
6: 4,711,388 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,275,097 (GRCm39) |
V52E |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,286,571 (GRCm39) |
K356R |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssc4d |
A |
G |
5: 135,999,192 (GRCm39) |
S4P |
possibly damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,177,679 (GRCm39) |
T82A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,460,530 (GRCm39) |
Q2597L |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,150,872 (GRCm39) |
Q691* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,243,642 (GRCm39) |
V17A |
probably benign |
Het |
| Zscan29 |
T |
A |
2: 120,994,357 (GRCm39) |
R543* |
probably null |
Het |
|
| Other mutations in Slc38a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00668:Slc38a11
|
APN |
2 |
65,184,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01467:Slc38a11
|
APN |
2 |
65,147,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03001:Slc38a11
|
APN |
2 |
65,184,159 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0458:Slc38a11
|
UTSW |
2 |
65,193,813 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0514:Slc38a11
|
UTSW |
2 |
65,147,209 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0815:Slc38a11
|
UTSW |
2 |
65,184,124 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1695:Slc38a11
|
UTSW |
2 |
65,147,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Slc38a11
|
UTSW |
2 |
65,180,452 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1760:Slc38a11
|
UTSW |
2 |
65,185,663 (GRCm39) |
splice site |
probably null |
|
|
R1854:Slc38a11
|
UTSW |
2 |
65,193,860 (GRCm39) |
splice site |
probably null |
|
|
R1961:Slc38a11
|
UTSW |
2 |
65,160,683 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1991:Slc38a11
|
UTSW |
2 |
65,160,683 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2046:Slc38a11
|
UTSW |
2 |
65,188,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2078:Slc38a11
|
UTSW |
2 |
65,160,728 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2103:Slc38a11
|
UTSW |
2 |
65,160,683 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3154:Slc38a11
|
UTSW |
2 |
65,160,679 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4358:Slc38a11
|
UTSW |
2 |
65,188,460 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5635:Slc38a11
|
UTSW |
2 |
65,191,747 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5729:Slc38a11
|
UTSW |
2 |
65,147,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6059:Slc38a11
|
UTSW |
2 |
65,165,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Slc38a11
|
UTSW |
2 |
65,194,235 (GRCm39) |
missense |
probably benign |
|
|
R7339:Slc38a11
|
UTSW |
2 |
65,156,914 (GRCm39) |
missense |
probably benign |
|
|
R7360:Slc38a11
|
UTSW |
2 |
65,184,139 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8397:Slc38a11
|
UTSW |
2 |
65,160,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Slc38a11
|
UTSW |
2 |
65,188,484 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2015-04-16 |
Incidental Mutation