Incidental Mutation 'IGL03093:Slc36a1'
| ID |
418448 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc36a1
|
| Ensembl Gene |
ENSMUSG00000020261 |
| Gene Name |
solute carrier family 36 (proton/amino acid symporter), member 1 |
| Synonyms |
Pat1, 5830411H19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.661)
|
| Stock # |
IGL03093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
55095176-55127156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55110430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 86
(I86V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020499]
[ENSMUST00000108867]
[ENSMUST00000108872]
[ENSMUST00000147506]
|
| AlphaFold |
Q8K4D3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020499
AA Change: I86V
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000020499
Gene: ENSMUSG00000020261
AA Change: I86V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
44 |
456 |
5e-77 |
PFAM |
|
low complexity region
|
462 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108867
AA Change: I86V
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104495
Gene: ENSMUSG00000020261
AA Change: I86V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
44 |
456 |
5e-77 |
PFAM |
|
low complexity region
|
462 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108872
AA Change: I86V
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104500
Gene: ENSMUSG00000020261
AA Change: I86V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
44 |
456 |
1.6e-77 |
PFAM |
|
low complexity region
|
462 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147506
AA Change: I86V
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000121398
Gene: ENSMUSG00000020261
AA Change: I86V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
44 |
164 |
1e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
A |
G |
19: 53,219,638 (GRCm39) |
D121G |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,043,802 (GRCm39) |
D1380G |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,453,262 (GRCm39) |
Y487C |
probably damaging |
Het |
| Coro2a |
A |
G |
4: 46,544,158 (GRCm39) |
S278P |
possibly damaging |
Het |
| Creb3l3 |
A |
G |
10: 80,927,047 (GRCm39) |
S128P |
probably benign |
Het |
| Dab2 |
A |
G |
15: 6,465,892 (GRCm39) |
R697G |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,823,399 (GRCm39) |
F811S |
probably benign |
Het |
| Fam170b |
A |
G |
14: 32,557,482 (GRCm39) |
S106G |
probably damaging |
Het |
| Galk2 |
T |
C |
2: 125,771,563 (GRCm39) |
L196P |
probably damaging |
Het |
| Gan |
T |
C |
8: 117,910,314 (GRCm39) |
M81T |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,068,511 (GRCm39) |
T197A |
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,504 (GRCm39) |
M244K |
probably benign |
Het |
| Htr6 |
A |
G |
4: 138,789,080 (GRCm39) |
F325S |
probably damaging |
Het |
| Igkv9-120 |
A |
G |
6: 68,027,398 (GRCm39) |
D104G |
probably damaging |
Het |
| Itpr2 |
A |
C |
6: 146,281,008 (GRCm39) |
I216S |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,526,748 (GRCm39) |
I614V |
possibly damaging |
Het |
| Mep1b |
C |
T |
18: 21,226,710 (GRCm39) |
T524M |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,480,702 (GRCm39) |
|
probably benign |
Het |
| Mylk |
G |
A |
16: 34,732,562 (GRCm39) |
R614H |
possibly damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,410 (GRCm39) |
T205A |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,007,446 (GRCm39) |
|
probably benign |
Het |
| Pabpc4 |
G |
A |
4: 123,180,502 (GRCm39) |
D75N |
probably damaging |
Het |
| Paics |
T |
A |
5: 77,109,355 (GRCm39) |
|
probably null |
Het |
| Prl |
T |
A |
13: 27,248,870 (GRCm39) |
I172N |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,152,056 (GRCm39) |
S168P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,865 (GRCm39) |
V225A |
probably damaging |
Het |
| Slc6a13 |
A |
G |
6: 121,309,407 (GRCm39) |
Y306C |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,066,078 (GRCm39) |
L250Q |
probably damaging |
Het |
| Tex38 |
A |
G |
4: 115,637,762 (GRCm39) |
S14P |
probably damaging |
Het |
| Tm2d1 |
A |
T |
4: 98,268,921 (GRCm39) |
C59S |
possibly damaging |
Het |
| Tmco1 |
A |
G |
1: 167,143,848 (GRCm39) |
D82G |
probably damaging |
Het |
| Tmem245 |
G |
A |
4: 56,886,019 (GRCm39) |
R866W |
probably damaging |
Het |
| Tnip1 |
G |
T |
11: 54,831,652 (GRCm39) |
Y7* |
probably null |
Het |
| Trp73 |
A |
G |
4: 154,189,330 (GRCm39) |
M48T |
probably benign |
Het |
| Tslp |
T |
C |
18: 32,948,612 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,688,827 (GRCm39) |
F745L |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,334,791 (GRCm39) |
T290S |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,718,472 (GRCm39) |
D30G |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,094,073 (GRCm39) |
Y247C |
probably benign |
Het |
|
| Other mutations in Slc36a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Slc36a1
|
APN |
11 |
55,116,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01520:Slc36a1
|
APN |
11 |
55,110,482 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01653:Slc36a1
|
APN |
11 |
55,119,147 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02801:Slc36a1
|
APN |
11 |
55,116,879 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03183:Slc36a1
|
APN |
11 |
55,119,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Slc36a1
|
UTSW |
11 |
55,109,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Slc36a1
|
UTSW |
11 |
55,112,820 (GRCm39) |
splice site |
probably benign |
|
|
R0058:Slc36a1
|
UTSW |
11 |
55,112,820 (GRCm39) |
splice site |
probably benign |
|
|
R0288:Slc36a1
|
UTSW |
11 |
55,109,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Slc36a1
|
UTSW |
11 |
55,123,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0964:Slc36a1
|
UTSW |
11 |
55,116,780 (GRCm39) |
unclassified |
probably benign |
|
|
R1730:Slc36a1
|
UTSW |
11 |
55,114,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Slc36a1
|
UTSW |
11 |
55,119,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Slc36a1
|
UTSW |
11 |
55,114,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Slc36a1
|
UTSW |
11 |
55,111,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2029:Slc36a1
|
UTSW |
11 |
55,119,164 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2927:Slc36a1
|
UTSW |
11 |
55,123,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4541:Slc36a1
|
UTSW |
11 |
55,112,849 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7033:Slc36a1
|
UTSW |
11 |
55,114,563 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7059:Slc36a1
|
UTSW |
11 |
55,114,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Slc36a1
|
UTSW |
11 |
55,104,754 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8672:Slc36a1
|
UTSW |
11 |
55,123,334 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Slc36a1
|
UTSW |
11 |
55,115,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation