Incidental Mutation 'R2927:Slc36a1'
ID |
255803 |
Institutional Source |
Beutler Lab
|
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: 0.556)
|
Stock # |
R2927 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
55095176-55127156 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 55123201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 389
(A389T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020499]
[ENSMUST00000108867]
[ENSMUST00000108872]
|
AlphaFold |
Q8K4D3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020499
AA Change: A389T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020499 Gene: ENSMUSG00000020261 AA Change: A389T
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: A389T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104495 Gene: ENSMUSG00000020261 AA Change: A389T
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: A389T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104500 Gene: ENSMUSG00000020261 AA Change: A389T
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Dsc2 |
T |
C |
18: 20,178,558 (GRCm39) |
Y282C |
probably damaging |
Het |
Dsg1b |
C |
A |
18: 20,538,308 (GRCm39) |
P638Q |
probably benign |
Het |
Eea1 |
C |
T |
10: 95,849,220 (GRCm39) |
S486L |
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Ift22 |
A |
G |
5: 136,941,799 (GRCm39) |
D147G |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,236,848 (GRCm39) |
Q1111L |
probably benign |
Het |
Ikzf1 |
T |
C |
11: 11,719,324 (GRCm39) |
Y344H |
probably damaging |
Het |
Kif1c |
T |
A |
11: 70,617,140 (GRCm39) |
C813S |
probably benign |
Het |
Krt16 |
A |
G |
11: 100,139,625 (GRCm39) |
L31P |
unknown |
Het |
Lrrc49 |
G |
A |
9: 60,501,029 (GRCm39) |
R633* |
probably null |
Het |
Mllt6 |
T |
A |
11: 97,571,602 (GRCm39) |
F1080I |
probably damaging |
Het |
Or52ae7 |
A |
G |
7: 103,120,089 (GRCm39) |
Y281C |
probably damaging |
Het |
Plxnc1 |
T |
G |
10: 94,629,154 (GRCm39) |
|
probably null |
Het |
Ppp4r2 |
T |
C |
6: 100,838,426 (GRCm39) |
Y115H |
probably damaging |
Het |
Pramel1 |
T |
A |
4: 143,125,388 (GRCm39) |
D437E |
probably benign |
Het |
Pstpip2 |
C |
A |
18: 77,949,589 (GRCm39) |
Q133K |
probably damaging |
Het |
Ptgs2 |
A |
T |
1: 149,977,011 (GRCm39) |
T41S |
possibly damaging |
Het |
Vav2 |
A |
G |
2: 27,316,403 (GRCm39) |
V30A |
probably damaging |
Het |
Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTAGAGCCAGGAGACCAC -3'
(R):5'- CACACAGAGACTCGTAGGTC -3'
Sequencing Primer
(F):5'- TTAGAGCCAGGAGACCACAGTAATTC -3'
(R):5'- AGAGACTCGTAGGTCCCCAC -3'
|
Posted On |
2014-12-29 |