Incidental Mutation 'R0965:Slc7a5'
| ID |
81612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a5
|
| Ensembl Gene |
ENSMUSG00000040010 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 |
| Synonyms |
D0H16S474E, Gm42049, TA1, LAT1 |
| MMRRC Submission |
039094-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0965 (G1)
|
| Quality Score |
175 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
122607885-122634425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122633840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 169
(E169G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045557]
[ENSMUST00000127664]
|
| AlphaFold |
Q9Z127 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045557
AA Change: E169G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000041557
Gene: ENSMUSG00000040010
AA Change: E169G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_2
|
51 |
481 |
4.2e-65 |
PFAM |
|
Pfam:AA_permease
|
56 |
489 |
1.6e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181944
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted mutation die prenatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
AGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGG |
4: 129,886,209 (GRCm39) |
|
probably benign |
Het |
| Amacr |
C |
T |
15: 10,984,891 (GRCm39) |
R170C |
probably damaging |
Het |
| Bcl2 |
A |
T |
1: 106,640,021 (GRCm39) |
L197Q |
probably benign |
Het |
| Brd1 |
G |
A |
15: 88,601,231 (GRCm39) |
R468W |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,567,570 (GRCm39) |
F821L |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Gzma |
G |
A |
13: 113,234,868 (GRCm39) |
P38L |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,857,593 (GRCm39) |
L174P |
probably benign |
Het |
| Med19 |
A |
G |
2: 84,508,793 (GRCm39) |
E2G |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,417,539 (GRCm39) |
T3495I |
possibly damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,064,043 (GRCm39) |
S107P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or9g4b |
A |
G |
2: 85,616,643 (GRCm39) |
S263G |
probably damaging |
Het |
| Phf11c |
T |
A |
14: 59,618,931 (GRCm39) |
I285F |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,647,580 (GRCm39) |
V3668A |
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,847,832 (GRCm39) |
F1126S |
probably damaging |
Het |
| Slco1b2 |
C |
A |
6: 141,631,322 (GRCm39) |
T652K |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Tmem119 |
A |
C |
5: 113,933,480 (GRCm39) |
V107G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,629,915 (GRCm39) |
G14205V |
probably damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,573,541 (GRCm39) |
N33S |
possibly damaging |
Het |
|
| Other mutations in Slc7a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02192:Slc7a5
|
APN |
8 |
122,613,129 (GRCm39) |
intron |
probably benign |
|
|
R0364:Slc7a5
|
UTSW |
8 |
122,611,754 (GRCm39) |
missense |
probably benign |
|
|
R0580:Slc7a5
|
UTSW |
8 |
122,611,855 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1274:Slc7a5
|
UTSW |
8 |
122,610,453 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2135:Slc7a5
|
UTSW |
8 |
122,610,444 (GRCm39) |
missense |
probably null |
0.96 |
|
R4163:Slc7a5
|
UTSW |
8 |
122,615,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4506:Slc7a5
|
UTSW |
8 |
122,614,234 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4910:Slc7a5
|
UTSW |
8 |
122,611,861 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5243:Slc7a5
|
UTSW |
8 |
122,623,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5449:Slc7a5
|
UTSW |
8 |
122,613,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Slc7a5
|
UTSW |
8 |
122,610,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5744:Slc7a5
|
UTSW |
8 |
122,615,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7473:Slc7a5
|
UTSW |
8 |
122,615,162 (GRCm39) |
missense |
probably benign |
|
|
R7499:Slc7a5
|
UTSW |
8 |
122,610,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Slc7a5
|
UTSW |
8 |
122,614,274 (GRCm39) |
nonsense |
probably null |
|
|
R7680:Slc7a5
|
UTSW |
8 |
122,634,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Slc7a5
|
UTSW |
8 |
122,633,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8382:Slc7a5
|
UTSW |
8 |
122,612,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8405:Slc7a5
|
UTSW |
8 |
122,613,661 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8551:Slc7a5
|
UTSW |
8 |
122,613,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9513:Slc7a5
|
UTSW |
8 |
122,613,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9727:Slc7a5
|
UTSW |
8 |
122,613,085 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGCCGAGATGGTTCAGGGATG -3'
(R):5'- GCGCAATATCACGCTGCTCAAC -3'
Sequencing Primer
(F):5'- TGGTTCAGGGATGGACAGATG -3'
(R):5'- ATCATCGTGGGCACCATC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation