Incidental Mutation 'IGL00668:Slc38a11'
| ID |
14090 |
| 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 # |
IGL00668
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
65146774-65194378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65184126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 175
(D175V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112420]
[ENSMUST00000152324]
|
| AlphaFold |
Q3USY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112420
AA Change: D175V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108039
Gene: ENSMUSG00000061171
AA Change: D175V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
32 |
420 |
1.6e-66 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124918
AA Change: D135V
|
| SMART Domains |
Protein: ENSMUSP00000120185
Gene: ENSMUSG00000061171
AA Change: D135V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
26 |
381 |
8.5e-51 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000127623
AA Change: D99V
|
| SMART Domains |
Protein: ENSMUSP00000120737
Gene: ENSMUSG00000061171
AA Change: D99V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
1 |
345 |
1.2e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145583
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152324
AA Change: D175V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121205
Gene: ENSMUSG00000061171
AA Change: D175V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
32 |
367 |
4.8e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155422
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155962
AA Change: D172V
|
| SMART Domains |
Protein: ENSMUSP00000118837
Gene: ENSMUSG00000061171
AA Change: D172V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
30 |
204 |
1.1e-30 |
PFAM |
|
Pfam:Trp_Tyr_perm
|
31 |
201 |
3.8e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Csmd3 |
A |
T |
15: 47,777,341 (GRCm39) |
D1188E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,072,620 (GRCm39) |
L2726P |
possibly damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,221,048 (GRCm39) |
H21R |
probably benign |
Het |
| Il23r |
T |
C |
6: 67,400,612 (GRCm39) |
T573A |
probably damaging |
Het |
| Lima1 |
A |
T |
15: 99,700,038 (GRCm39) |
V147E |
possibly damaging |
Het |
| Med12 |
T |
C |
X: 100,324,792 (GRCm39) |
S666P |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,160 (GRCm39) |
N273S |
probably benign |
Het |
| Phf20l1 |
T |
A |
15: 66,504,698 (GRCm39) |
Y780N |
probably damaging |
Het |
| Pigk |
A |
G |
3: 152,448,173 (GRCm39) |
T179A |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,138 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,985 (GRCm39) |
E894G |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,883,968 (GRCm39) |
|
probably null |
Het |
| Tsbp1 |
A |
G |
17: 34,639,394 (GRCm39) |
|
probably benign |
Het |
| Wmp |
T |
A |
X: 106,990,802 (GRCm39) |
Y37F |
possibly damaging |
Het |
|
| Other mutations in Slc38a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01467:Slc38a11
|
APN |
2 |
65,147,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02585:Slc38a11
|
APN |
2 |
65,166,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2012-12-06 |
Incidental Mutation