Incidental Mutation 'R5744:Slc7a5'
| ID |
445719 |
| 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 |
043197-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5744 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
122607885-122634425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122615121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 242
(N242S)
|
| 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: N242S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041557
Gene: ENSMUSG00000040010
AA Change: N242S
| 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: ENSMUST00000182165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183015
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,131 (GRCm39) |
I19V |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,586,977 (GRCm39) |
I943T |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,981,890 (GRCm39) |
V1640A |
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,823,394 (GRCm39) |
F1015S |
possibly damaging |
Het |
| Cgnl1 |
G |
T |
9: 71,537,957 (GRCm39) |
|
probably null |
Het |
| Csgalnact2 |
C |
T |
6: 118,103,197 (GRCm39) |
G255E |
probably damaging |
Het |
| Ctla2a |
C |
T |
13: 61,083,767 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
T |
13: 9,618,441 (GRCm39) |
I497F |
probably damaging |
Het |
| Eif3f |
C |
A |
7: 108,537,624 (GRCm39) |
T179K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,563,380 (GRCm39) |
F376L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,102,991 (GRCm39) |
F590Y |
probably damaging |
Het |
| Gemin5 |
C |
A |
11: 58,046,009 (GRCm39) |
C433F |
possibly damaging |
Het |
| Gm7694 |
C |
T |
1: 170,130,075 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
G |
A |
2: 21,373,331 (GRCm39) |
G89R |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,415,475 (GRCm39) |
P4817S |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,375,852 (GRCm39) |
L9P |
possibly damaging |
Het |
| Igdcc3 |
TGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGC |
9: 65,048,770 (GRCm39) |
|
probably benign |
Het |
| Il1rap |
A |
C |
16: 26,498,974 (GRCm39) |
I158L |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,277,649 (GRCm39) |
S640P |
probably damaging |
Het |
| Metrn |
A |
G |
17: 26,014,211 (GRCm39) |
V205A |
probably damaging |
Het |
| Mfhas1 |
C |
A |
8: 36,056,636 (GRCm39) |
D370E |
probably damaging |
Het |
| Mn1 |
T |
C |
5: 111,568,402 (GRCm39) |
S791P |
possibly damaging |
Het |
| Mtmr3 |
A |
G |
11: 4,437,679 (GRCm39) |
V925A |
possibly damaging |
Het |
| Neil1 |
T |
C |
9: 57,051,485 (GRCm39) |
T278A |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,815,802 (GRCm39) |
N619D |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,900,308 (GRCm39) |
L879P |
probably damaging |
Het |
| Or2l5 |
A |
G |
16: 19,334,086 (GRCm39) |
I100T |
probably benign |
Het |
| Or7a37 |
T |
C |
10: 78,806,017 (GRCm39) |
F178S |
probably damaging |
Het |
| Or9k2 |
T |
C |
10: 129,998,661 (GRCm39) |
D178G |
possibly damaging |
Het |
| Plxna1 |
C |
T |
6: 89,311,664 (GRCm39) |
R947Q |
possibly damaging |
Het |
| Prdm16 |
A |
G |
4: 154,613,161 (GRCm39) |
S89P |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,311,081 (GRCm39) |
S277R |
probably null |
Het |
| Sel1l |
A |
T |
12: 91,776,754 (GRCm39) |
I746N |
possibly damaging |
Het |
| Slc2a8 |
C |
T |
2: 32,866,040 (GRCm39) |
D291N |
probably benign |
Het |
| Smco3 |
T |
C |
6: 136,808,763 (GRCm39) |
N37S |
probably damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,280,990 (GRCm39) |
K38* |
probably null |
Het |
| Tfap2b |
T |
C |
1: 19,289,445 (GRCm39) |
M190T |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,778,523 (GRCm39) |
Y623* |
probably null |
Het |
| Tomm70a |
G |
T |
16: 56,942,202 (GRCm39) |
|
probably benign |
Het |
| Ttyh2 |
T |
C |
11: 114,593,136 (GRCm39) |
|
probably null |
Het |
| Zbtb10 |
A |
G |
3: 9,329,623 (GRCm39) |
Y327C |
probably 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 |
|
R0965:Slc7a5
|
UTSW |
8 |
122,633,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- CCTGCCTGTCTCATAAAGGTCG -3'
(R):5'- TCAGTCTGCTGCGGTAAATG -3'
Sequencing Primer
(F):5'- TCTCATAAAGGTCGTGCAGC -3'
(R):5'- GTAAATGCCTGCATCCTGAGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation