Incidental Mutation 'R4058:Slc1a5'
| ID |
314339 |
| 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 |
040969-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R4058 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16515265-16532199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16529778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 399
(V399A)
|
| 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: V399A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104136
Gene: ENSMUSG00000001918
AA Change: V399A
| 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
|
| Meta Mutation Damage Score |
0.5447 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
88% (38/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,254,362 (GRCm39) |
V145A |
possibly damaging |
Het |
| Anxa4 |
C |
T |
6: 86,734,800 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cldn34c4 |
C |
A |
X: 126,629,060 (GRCm39) |
V137F |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,994,282 (GRCm39) |
E163G |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,769,764 (GRCm39) |
D113G |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,810,830 (GRCm39) |
V971D |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,097,810 (GRCm39) |
|
probably benign |
Het |
| H13 |
C |
G |
2: 152,533,794 (GRCm39) |
P227R |
probably damaging |
Het |
| Ift22 |
C |
A |
5: 136,940,717 (GRCm39) |
P84Q |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kdm8 |
T |
A |
7: 125,055,666 (GRCm39) |
Y65N |
probably damaging |
Het |
| Lbp |
T |
A |
2: 158,166,550 (GRCm39) |
V368E |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,326,989 (GRCm39) |
|
probably benign |
Het |
| Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
| Mitd1 |
C |
T |
1: 37,920,107 (GRCm39) |
S167N |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,406 (GRCm39) |
E194V |
possibly damaging |
Het |
| Nup210 |
A |
T |
6: 91,037,602 (GRCm39) |
V757D |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,812,884 (GRCm39) |
Y192C |
probably damaging |
Het |
| Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,576 (GRCm39) |
S138R |
possibly damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,561,245 (GRCm39) |
F418L |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
| Prep |
G |
A |
10: 45,034,467 (GRCm39) |
V660M |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,358,525 (GRCm39) |
I83N |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Rhbdd1 |
A |
G |
1: 82,348,102 (GRCm39) |
N235D |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,379,981 (GRCm39) |
D950E |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,892,487 (GRCm39) |
Q89H |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,068,703 (GRCm39) |
W2168R |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,440,264 (GRCm39) |
K581M |
probably benign |
Het |
| Tns3 |
T |
C |
11: 8,442,275 (GRCm39) |
D696G |
probably damaging |
Het |
| Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
| Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,810,746 (GRCm39) |
I314T |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,312 (GRCm39) |
H182L |
probably damaging |
Het |
| Vmn2r76 |
A |
C |
7: 85,879,508 (GRCm39) |
M264R |
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 |
|
R4944:Slc1a5
|
UTSW |
7 |
16,531,668 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5220:Slc1a5
|
UTSW |
7 |
16,527,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAGCCTTTGAGGTCCAGGAG -3'
(R):5'- ACTGCTTCCAGGATGATGGC -3'
Sequencing Primer
(F):5'- TGAGGTCCAGGAGGGCTG -3'
(R):5'- ACCGACACTGGATGCTGTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation