Incidental Mutation 'R5179:Slc7a8'
| ID |
399424 |
| 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 |
042759-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.534)
|
| Stock # |
R5179 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54959672-55019343 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 54962289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 448
(C448*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022787]
|
| AlphaFold |
Q9QXW9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022787
AA Change: C448*
|
| SMART Domains |
Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180
AA Change: C448*
| 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 |
|
| Meta Mutation Damage Score |
0.9711 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (37/38) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B9d2 |
C |
A |
7: 25,380,826 (GRCm39) |
H5Q |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,642,169 (GRCm39) |
I371T |
possibly damaging |
Het |
| Bmp8a |
C |
T |
4: 123,207,094 (GRCm39) |
R389H |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,845,563 (GRCm39) |
N326K |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,390,137 (GRCm39) |
N545S |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,308 (GRCm39) |
S359T |
possibly damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,299 (GRCm39) |
T248S |
possibly damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,363,759 (GRCm39) |
I4107T |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,479,936 (GRCm39) |
H488L |
probably damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,063,181 (GRCm39) |
V503A |
probably benign |
Het |
| Exd2 |
G |
T |
12: 80,531,118 (GRCm39) |
W105L |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,789,448 (GRCm39) |
C251* |
probably null |
Het |
| Ifit2 |
C |
A |
19: 34,550,976 (GRCm39) |
P172Q |
probably damaging |
Het |
| Incenp |
G |
C |
19: 9,872,273 (GRCm39) |
Q62E |
unknown |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lrg1 |
A |
G |
17: 56,427,795 (GRCm39) |
L59P |
possibly damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,879 (GRCm39) |
E145G |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,299,682 (GRCm39) |
D346G |
probably benign |
Het |
| Or4m1 |
G |
A |
14: 50,557,993 (GRCm39) |
Q100* |
probably null |
Het |
| Or56b1b |
T |
C |
7: 108,164,433 (GRCm39) |
I190V |
probably benign |
Het |
| Osbpl8 |
T |
G |
10: 111,108,025 (GRCm39) |
D298E |
probably benign |
Het |
| Pcna-ps2 |
T |
C |
19: 9,260,891 (GRCm39) |
L50P |
probably damaging |
Het |
| Ptgir |
C |
T |
7: 16,641,253 (GRCm39) |
P182S |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,825,421 (GRCm39) |
Y1653C |
probably damaging |
Het |
| Sgcd |
T |
A |
11: 46,871,711 (GRCm39) |
E208V |
probably benign |
Het |
| Sos2 |
G |
A |
12: 69,697,502 (GRCm39) |
R73* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,911,127 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,692,639 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,411 (GRCm39) |
F682L |
probably benign |
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 |
|
|
R1122:Slc7a8
|
UTSW |
14 |
54,961,564 (GRCm39) |
missense |
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 |
|
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'- TGAATCGTGAGCCCTGTGAAC -3'
(R):5'- GCTCAGCCATTTCCCTCAAG -3'
Sequencing Primer
(F):5'- TCGTGAGCCCTGTGAACTAAAG -3'
(R):5'- CCATTTCCCTCAAGGATGAAGGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation