Incidental Mutation 'R5220:Slc1a5'
| ID |
402268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc1a5
|
| Ensembl Gene |
ENSMUSG00000001918 |
| Gene Name |
solute carrier family 1 (neutral amino acid transporter), member 5 |
| Synonyms |
ASCT2 |
| MMRRC Submission |
042793-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R5220 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16515265-16532199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16527759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 352
(W352R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108496]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108496
AA Change: W352R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104136
Gene: ENSMUSG00000001918
AA Change: W352R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
55 |
499 |
1.5e-122 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135817
|
| SMART Domains |
Protein: ENSMUSP00000116654
Gene: ENSMUSG00000001918
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
3 |
139 |
7e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147814
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced B cells, CD4+ memory T cells in older mice, Th1 and Th17 T cells, susceptibility to EAE and T cell uptake of glutamine and leucine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,738,045 (GRCm39) |
E250G |
probably damaging |
Het |
| Adgra1 |
A |
G |
7: 139,455,512 (GRCm39) |
N380S |
probably benign |
Het |
| Ap3d1 |
G |
A |
10: 80,563,001 (GRCm39) |
P160L |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,162,372 (GRCm39) |
V505M |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,543,102 (GRCm39) |
I747F |
probably damaging |
Het |
| Clec2g |
A |
G |
6: 128,958,269 (GRCm39) |
S100G |
probably benign |
Het |
| Cmya5 |
G |
T |
13: 93,228,804 (GRCm39) |
P2095T |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,373,909 (GRCm39) |
W445R |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,207,012 (GRCm39) |
L159M |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,233,776 (GRCm39) |
D285G |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,916,222 (GRCm39) |
R3419W |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,197,672 (GRCm39) |
|
probably null |
Het |
| Ghdc |
T |
C |
11: 100,660,543 (GRCm39) |
E110G |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,325,562 (GRCm39) |
T309A |
probably benign |
Het |
| Helb |
A |
C |
10: 119,937,391 (GRCm39) |
F618V |
probably damaging |
Het |
| Hycc1 |
A |
C |
5: 24,170,220 (GRCm39) |
S376R |
possibly damaging |
Het |
| Ifi211 |
A |
G |
1: 173,735,262 (GRCm39) |
F56L |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,950,160 (GRCm39) |
F1988L |
probably damaging |
Het |
| Mapk13 |
G |
A |
17: 28,997,465 (GRCm39) |
S361N |
probably benign |
Het |
| Mapk3 |
A |
G |
7: 126,363,408 (GRCm39) |
I146V |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,338,295 (GRCm39) |
|
probably null |
Het |
| Mug1 |
G |
T |
6: 121,838,092 (GRCm39) |
V441F |
probably benign |
Het |
| Mymk |
A |
G |
2: 26,952,226 (GRCm39) |
S173P |
probably benign |
Het |
| Nox4 |
A |
G |
7: 87,023,616 (GRCm39) |
T501A |
possibly damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,624 (GRCm39) |
S105Y |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52n2 |
T |
C |
7: 104,542,104 (GRCm39) |
T244A |
possibly damaging |
Het |
| Prkcb |
C |
A |
7: 121,888,678 (GRCm39) |
H37Q |
probably damaging |
Het |
| Rabggtb |
A |
G |
3: 153,615,024 (GRCm39) |
F189L |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,281,471 (GRCm39) |
I75T |
unknown |
Het |
| Slc10a5 |
T |
A |
3: 10,400,148 (GRCm39) |
R171* |
probably null |
Het |
| Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,555,460 (GRCm39) |
M190T |
probably damaging |
Het |
| Tmeff2 |
A |
G |
1: 51,018,476 (GRCm39) |
M153V |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,796,696 (GRCm39) |
T279A |
probably damaging |
Het |
| Ubn1 |
G |
T |
16: 4,895,818 (GRCm39) |
A955S |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,239,500 (GRCm39) |
H1147Q |
possibly damaging |
Het |
| Vrk1 |
T |
A |
12: 106,039,865 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,365 (GRCm39) |
Y233* |
probably null |
Het |
| Zfp109 |
A |
G |
7: 23,928,179 (GRCm39) |
V418A |
probably benign |
Het |
|
| Other mutations in Slc1a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Slc1a5
|
APN |
7 |
16,520,804 (GRCm39) |
nonsense |
probably null |
|
|
IGL01295:Slc1a5
|
APN |
7 |
16,529,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02388:Slc1a5
|
APN |
7 |
16,519,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02863:Slc1a5
|
APN |
7 |
16,527,646 (GRCm39) |
missense |
probably benign |
|
|
IGL03149:Slc1a5
|
APN |
7 |
16,523,745 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0001:Slc1a5
|
UTSW |
7 |
16,527,562 (GRCm39) |
splice site |
probably null |
|
|
R0368:Slc1a5
|
UTSW |
7 |
16,516,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Slc1a5
|
UTSW |
7 |
16,520,829 (GRCm39) |
missense |
probably benign |
|
|
R1430:Slc1a5
|
UTSW |
7 |
16,516,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1769:Slc1a5
|
UTSW |
7 |
16,531,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4058:Slc1a5
|
UTSW |
7 |
16,529,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4944:Slc1a5
|
UTSW |
7 |
16,531,668 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5976:Slc1a5
|
UTSW |
7 |
16,529,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Slc1a5
|
UTSW |
7 |
16,516,151 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7171:Slc1a5
|
UTSW |
7 |
16,531,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Slc1a5
|
UTSW |
7 |
16,519,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Slc1a5
|
UTSW |
7 |
16,530,085 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7630:Slc1a5
|
UTSW |
7 |
16,529,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Slc1a5
|
UTSW |
7 |
16,527,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Slc1a5
|
UTSW |
7 |
16,523,807 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7945:Slc1a5
|
UTSW |
7 |
16,523,807 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8221:Slc1a5
|
UTSW |
7 |
16,515,902 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9709:Slc1a5
|
UTSW |
7 |
16,527,729 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1088:Slc1a5
|
UTSW |
7 |
16,531,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGATGATCAGGTACGCACC -3'
(R):5'- ACATTGCACTGTCACCTCAC -3'
Sequencing Primer
(F):5'- GCACCCGTTGGAATCCTG -3'
(R):5'- CACATGGTGGCTCAGAGCTAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation