Incidental Mutation 'IGL01653:Slc36a1'
ID |
102870 |
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 # |
IGL01653
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
55095176-55127156 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55119147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 374
(D374G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020499]
[ENSMUST00000108867]
[ENSMUST00000108872]
|
AlphaFold |
Q8K4D3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020499
AA Change: D374G
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000020499 Gene: ENSMUSG00000020261 AA Change: D374G
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 |
possibly damaging
Transcript: ENSMUST00000108867
AA Change: D374G
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104495 Gene: ENSMUSG00000020261 AA Change: D374G
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 |
possibly damaging
Transcript: ENSMUST00000108872
AA Change: D374G
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104500 Gene: ENSMUSG00000020261 AA Change: D374G
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 |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
Apol7c |
A |
G |
15: 77,410,500 (GRCm39) |
C149R |
probably damaging |
Het |
Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
Bpifb4 |
A |
G |
2: 153,786,703 (GRCm39) |
D285G |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
Cerk |
G |
T |
15: 86,033,552 (GRCm39) |
Y290* |
probably null |
Het |
Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
Dcp1a |
T |
C |
14: 30,227,528 (GRCm39) |
S134P |
possibly damaging |
Het |
Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
Fcgr3 |
A |
T |
1: 170,886,849 (GRCm39) |
L25Q |
probably damaging |
Het |
Heatr3 |
A |
G |
8: 88,871,245 (GRCm39) |
I83V |
probably benign |
Het |
Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
Krt6b |
T |
A |
15: 101,587,549 (GRCm39) |
T182S |
probably damaging |
Het |
Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
Nhlrc2 |
C |
T |
19: 56,559,282 (GRCm39) |
R256C |
probably benign |
Het |
Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,317,770 (GRCm39) |
T468A |
possibly damaging |
Het |
Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
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 |
IGL02801:Slc36a1
|
APN |
11 |
55,116,879 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03093:Slc36a1
|
APN |
11 |
55,110,430 (GRCm39) |
missense |
probably benign |
0.09 |
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 |
2014-01-21 |