Incidental Mutation 'IGL00950:Slc36a1'
ID |
28573 |
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 # |
IGL00950
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
55095176-55127156 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55116954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 328
(C328R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020499]
[ENSMUST00000108867]
[ENSMUST00000108872]
[ENSMUST00000147506]
|
AlphaFold |
Q8K4D3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020499
AA Change: C328R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020499 Gene: ENSMUSG00000020261 AA Change: C328R
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 damaging
Transcript: ENSMUST00000108867
AA Change: C328R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104495 Gene: ENSMUSG00000020261 AA Change: C328R
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 damaging
Transcript: ENSMUST00000108872
AA Change: C328R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104500 Gene: ENSMUSG00000020261 AA Change: C328R
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
|
SMART Domains |
Protein: ENSMUSP00000121398 Gene: ENSMUSG00000020261
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
T |
C |
7: 66,770,660 (GRCm39) |
V923A |
possibly damaging |
Het |
Als2 |
G |
A |
1: 59,254,541 (GRCm39) |
A272V |
probably benign |
Het |
Aoc1l1 |
A |
C |
6: 48,955,065 (GRCm39) |
N635T |
possibly damaging |
Het |
Chrne |
C |
T |
11: 70,509,983 (GRCm39) |
|
probably benign |
Het |
Dhx34 |
C |
T |
7: 15,933,751 (GRCm39) |
R947H |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,253,482 (GRCm39) |
M1796L |
probably benign |
Het |
Dstyk |
C |
T |
1: 132,387,726 (GRCm39) |
T820I |
probably damaging |
Het |
Eif4g1 |
A |
G |
16: 20,502,378 (GRCm39) |
K942E |
probably damaging |
Het |
Fbn1 |
C |
T |
2: 125,200,743 (GRCm39) |
G1318E |
probably damaging |
Het |
Galnt5 |
T |
C |
2: 57,889,144 (GRCm39) |
V248A |
probably benign |
Het |
Gcnt4 |
A |
G |
13: 97,083,064 (GRCm39) |
Y120C |
probably damaging |
Het |
Gdf5 |
A |
G |
2: 155,783,626 (GRCm39) |
V442A |
probably damaging |
Het |
H2-Q4 |
A |
C |
17: 35,601,834 (GRCm39) |
D232A |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Htt |
A |
G |
5: 35,048,785 (GRCm39) |
I2423V |
probably benign |
Het |
Itk |
T |
A |
11: 46,258,723 (GRCm39) |
I60F |
probably damaging |
Het |
Izumo1 |
T |
A |
7: 45,272,295 (GRCm39) |
C25* |
probably null |
Het |
Katnip |
T |
A |
7: 125,442,393 (GRCm39) |
D767E |
probably benign |
Het |
Lamc1 |
G |
T |
1: 153,116,241 (GRCm39) |
P980H |
probably damaging |
Het |
Ncor2 |
C |
A |
5: 125,163,954 (GRCm39) |
R367L |
unknown |
Het |
Pcdhb17 |
A |
T |
18: 37,619,059 (GRCm39) |
|
probably null |
Het |
Rnf123 |
C |
A |
9: 107,944,594 (GRCm39) |
|
probably null |
Het |
Sh3bgrl2 |
T |
A |
9: 83,459,543 (GRCm39) |
F34I |
probably damaging |
Het |
Sharpin |
T |
C |
15: 76,232,424 (GRCm39) |
E171G |
probably damaging |
Het |
Slc22a30 |
A |
T |
19: 8,313,152 (GRCm39) |
D544E |
probably benign |
Het |
Sntg2 |
T |
C |
12: 30,362,680 (GRCm39) |
|
probably benign |
Het |
Sox13 |
A |
G |
1: 133,314,844 (GRCm39) |
V272A |
probably benign |
Het |
Sppl2b |
T |
G |
10: 80,699,928 (GRCm39) |
L37R |
probably damaging |
Het |
Strip1 |
T |
A |
3: 107,528,761 (GRCm39) |
S390C |
probably damaging |
Het |
Stxbp5 |
T |
A |
10: 9,684,346 (GRCm39) |
|
probably benign |
Het |
Supt16 |
T |
C |
14: 52,399,255 (GRCm39) |
E1008G |
possibly damaging |
Het |
Vmn1r174 |
C |
A |
7: 23,453,911 (GRCm39) |
H192Q |
possibly damaging |
Het |
Vsir |
C |
T |
10: 60,200,063 (GRCm39) |
Q154* |
probably null |
Het |
Xrn2 |
A |
T |
2: 146,870,066 (GRCm39) |
R252* |
probably null |
Het |
|
Other mutations in Slc36a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |