Incidental Mutation 'R1122:Slc7a8'
| ID |
95763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a8
|
| Ensembl Gene |
ENSMUSG00000022180 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 |
| Synonyms |
LAT2 |
| MMRRC Submission |
039195-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.453)
|
| Stock # |
R1122 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
54959672-55019343 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54961564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 528
(E528G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022787]
|
| AlphaFold |
Q9QXW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022787
AA Change: E528G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180
AA Change: E528G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
32 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_2
|
39 |
463 |
8.9e-72 |
PFAM |
|
Pfam:AA_permease
|
44 |
469 |
5.2e-41 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
G |
A |
11: 69,902,203 (GRCm39) |
L469F |
probably damaging |
Het |
| Adgrb1 |
C |
A |
15: 74,419,534 (GRCm39) |
R792S |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 44,032,307 (GRCm39) |
H297L |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,943,597 (GRCm39) |
E333G |
probably damaging |
Het |
| Cyb5a |
A |
G |
18: 84,895,964 (GRCm39) |
T77A |
possibly damaging |
Het |
| Entrep1 |
T |
C |
19: 23,952,756 (GRCm39) |
E518G |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,650,821 (GRCm39) |
W456R |
possibly damaging |
Het |
| Fhip2a |
A |
T |
19: 57,370,733 (GRCm39) |
T551S |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,513,463 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,401,879 (GRCm38) |
|
noncoding transcript |
Het |
| Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
| Kifc5b |
T |
A |
17: 27,143,035 (GRCm39) |
V269E |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,719 (GRCm39) |
N207D |
probably damaging |
Het |
| Map2k5 |
A |
G |
9: 63,170,445 (GRCm39) |
V291A |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,266,147 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,611,019 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,542,934 (GRCm39) |
D109V |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,457,981 (GRCm39) |
V294A |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Rnf220 |
C |
T |
4: 117,135,277 (GRCm39) |
G171S |
probably benign |
Het |
| Slc6a4 |
T |
C |
11: 76,918,012 (GRCm39) |
S585P |
possibly damaging |
Het |
| Slco4c1 |
A |
G |
1: 96,756,561 (GRCm39) |
I587T |
possibly damaging |
Het |
| Syt4 |
T |
A |
18: 31,573,255 (GRCm39) |
H420L |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,936,792 (GRCm39) |
K236E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,545,676 (GRCm39) |
V32549A |
probably damaging |
Het |
| Uqcc4 |
T |
C |
17: 25,403,846 (GRCm39) |
I62T |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,030,832 (GRCm39) |
H2299R |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,743,403 (GRCm39) |
V64A |
possibly damaging |
Het |
|
| Other mutations in Slc7a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Slc7a8
|
APN |
14 |
54,972,581 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01366:Slc7a8
|
APN |
14 |
55,018,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0582:Slc7a8
|
UTSW |
14 |
54,995,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Slc7a8
|
UTSW |
14 |
54,972,643 (GRCm39) |
splice site |
probably benign |
|
|
R1468:Slc7a8
|
UTSW |
14 |
54,970,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Slc7a8
|
UTSW |
14 |
54,970,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Slc7a8
|
UTSW |
14 |
54,962,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2878:Slc7a8
|
UTSW |
14 |
54,997,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Slc7a8
|
UTSW |
14 |
54,975,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Slc7a8
|
UTSW |
14 |
54,973,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4513:Slc7a8
|
UTSW |
14 |
54,973,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4514:Slc7a8
|
UTSW |
14 |
54,973,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4524:Slc7a8
|
UTSW |
14 |
54,975,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4544:Slc7a8
|
UTSW |
14 |
54,973,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4546:Slc7a8
|
UTSW |
14 |
54,973,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5179:Slc7a8
|
UTSW |
14 |
54,962,289 (GRCm39) |
nonsense |
probably null |
|
|
R5395:Slc7a8
|
UTSW |
14 |
54,970,734 (GRCm39) |
nonsense |
probably null |
|
|
R6144:Slc7a8
|
UTSW |
14 |
54,966,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6537:Slc7a8
|
UTSW |
14 |
54,972,576 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7337:Slc7a8
|
UTSW |
14 |
54,964,263 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7404:Slc7a8
|
UTSW |
14 |
54,964,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7597:Slc7a8
|
UTSW |
14 |
55,018,857 (GRCm39) |
start gained |
probably benign |
|
|
R8188:Slc7a8
|
UTSW |
14 |
54,972,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8485:Slc7a8
|
UTSW |
14 |
54,962,264 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8781:Slc7a8
|
UTSW |
14 |
54,996,996 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8968:Slc7a8
|
UTSW |
14 |
55,018,750 (GRCm39) |
missense |
probably benign |
|
|
R9623:Slc7a8
|
UTSW |
14 |
54,964,341 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9752:Slc7a8
|
UTSW |
14 |
54,995,931 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9776:Slc7a8
|
UTSW |
14 |
55,018,759 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGGGTACTAATGGCACCTCCAC -3'
(R):5'- AGCACGTTATCACTGACCCAACTTC -3'
Sequencing Primer
(F):5'- CAGGGTCTTTGTTTAGAATGTCTCAC -3'
(R):5'- ATCACTGACCCAACTTCTGTATTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation