Incidental Mutation 'R0580:Slc7a5'
| ID |
56396 |
| 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 |
038770-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0580 (G1)
|
| Quality Score |
194 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122607885-122634425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122611855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 391
(M391K)
|
| 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: M391K
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041557
Gene: ENSMUSG00000040010
AA Change: M391K
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
| Validation Efficiency |
95% (40/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,470 (GRCm39) |
D314E |
probably damaging |
Het |
| Abcc10 |
C |
T |
17: 46,616,882 (GRCm39) |
|
probably null |
Het |
| Adgrg5 |
T |
C |
8: 95,663,972 (GRCm39) |
|
probably null |
Het |
| Akap12 |
A |
T |
10: 4,304,741 (GRCm39) |
D517V |
possibly damaging |
Het |
| Arhgap23 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
11: 97,337,362 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
T |
2: 158,100,215 (GRCm39) |
M1L |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,494,880 (GRCm39) |
P339S |
probably damaging |
Het |
| Chchd3 |
A |
C |
6: 32,870,325 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
C |
8: 91,721,191 (GRCm39) |
V520A |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,270,948 (GRCm39) |
R307G |
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,151,435 (GRCm39) |
T314A |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,960,528 (GRCm39) |
Y3296N |
probably damaging |
Het |
| Dtx2 |
A |
T |
5: 136,061,180 (GRCm39) |
T521S |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,626,070 (GRCm39) |
V330E |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,313,178 (GRCm39) |
L668P |
probably damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Grm8 |
A |
G |
6: 27,761,370 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,788,539 (GRCm39) |
V1763D |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
| Iqce |
A |
G |
5: 140,651,156 (GRCm39) |
F768L |
possibly damaging |
Het |
| Kntc1 |
G |
A |
5: 123,941,732 (GRCm39) |
V1809I |
probably benign |
Het |
| Lyzl1 |
A |
C |
18: 4,181,134 (GRCm39) |
T58P |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,152,829 (GRCm39) |
T287A |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,936,612 (GRCm39) |
Y264H |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,503,600 (GRCm39) |
D142G |
probably damaging |
Het |
| Nod2 |
T |
A |
8: 89,391,034 (GRCm39) |
I432N |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or2y1g |
T |
A |
11: 49,171,449 (GRCm39) |
I158N |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,447 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,519,419 (GRCm39) |
I501S |
probably benign |
Het |
| Scgb2b19 |
A |
T |
7: 32,977,995 (GRCm39) |
S101T |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,897,587 (GRCm39) |
R1217G |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,277,239 (GRCm39) |
V336A |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,711,379 (GRCm39) |
D51E |
probably benign |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,900 (GRCm39) |
V270A |
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 |
|
|
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 |
|
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'- TGCAGCCCTGCCTCTAAGAATGAC -3'
(R):5'- CGGTGCTAAGTTTCATGTGCCTCTC -3'
Sequencing Primer
(F):5'- CATCATACCGATGATGGCCA -3'
(R):5'- AAGTTTCATGTGCCTCTCAGGTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation