Incidental Mutation 'R1194:Slc7a15'
| ID |
100991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a15
|
| Ensembl Gene |
ENSMUSG00000020600 |
| Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 15 |
| Synonyms |
Arpat, 9030221C07Rik, 2010001P20Rik |
| MMRRC Submission |
039266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R1194 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
8578483-8649066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8585772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 8
(T8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036938]
[ENSMUST00000095863]
[ENSMUST00000165657]
|
| AlphaFold |
Q50E62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036938
AA Change: T8S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047873
Gene: ENSMUSG00000020600
AA Change: T8S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
1 |
197 |
2.6e-20 |
PFAM |
|
Pfam:AA_permease
|
1 |
221 |
1.5e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095863
AA Change: T268S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093548
Gene: ENSMUSG00000020600
AA Change: T268S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
31 |
453 |
2.6e-57 |
PFAM |
|
Pfam:AA_permease
|
35 |
480 |
2.2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129465
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165657
AA Change: T8S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129806
Gene: ENSMUSG00000020600
AA Change: T8S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
1 |
197 |
2.6e-20 |
PFAM |
|
Pfam:AA_permease
|
1 |
221 |
1.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219595
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029F12Rik |
T |
C |
13: 97,166,873 (GRCm39) |
R48G |
unknown |
Het |
| Dock4 |
T |
C |
12: 40,879,615 (GRCm39) |
F1533S |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,658,277 (GRCm39) |
E296G |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,580,841 (GRCm39) |
K717R |
probably benign |
Het |
| Emx2 |
C |
T |
19: 59,447,984 (GRCm39) |
Q12* |
probably null |
Het |
| Fubp1 |
TA |
T |
3: 151,937,606 (GRCm39) |
|
probably null |
Het |
| Gtsf1 |
A |
G |
15: 103,333,901 (GRCm39) |
I25T |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,860,221 (GRCm39) |
S232P |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,146,560 (GRCm39) |
|
probably null |
Het |
| Nkapl |
A |
G |
13: 21,652,478 (GRCm39) |
L45P |
unknown |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or2m13 |
T |
A |
16: 19,225,930 (GRCm39) |
T280S |
possibly damaging |
Het |
| Prkg2 |
A |
G |
5: 99,119,785 (GRCm39) |
S445P |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slc12a1 |
G |
A |
2: 125,026,687 (GRCm39) |
V441I |
probably benign |
Het |
| Spon1 |
A |
G |
7: 113,486,031 (GRCm39) |
R194G |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,981,287 (GRCm39) |
Y1531H |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
|
| Other mutations in Slc7a15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00310:Slc7a15
|
APN |
12 |
8,589,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00507:Slc7a15
|
APN |
12 |
8,585,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01839:Slc7a15
|
APN |
12 |
8,589,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02006:Slc7a15
|
APN |
12 |
8,585,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02201:Slc7a15
|
APN |
12 |
8,589,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0422:Slc7a15
|
UTSW |
12 |
8,584,400 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0794:Slc7a15
|
UTSW |
12 |
8,589,278 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1420:Slc7a15
|
UTSW |
12 |
8,584,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2696:Slc7a15
|
UTSW |
12 |
8,579,345 (GRCm39) |
makesense |
probably null |
|
|
R4809:Slc7a15
|
UTSW |
12 |
8,589,002 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5236:Slc7a15
|
UTSW |
12 |
8,589,005 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5579:Slc7a15
|
UTSW |
12 |
8,589,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6453:Slc7a15
|
UTSW |
12 |
8,584,490 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7136:Slc7a15
|
UTSW |
12 |
8,588,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8005:Slc7a15
|
UTSW |
12 |
8,589,395 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8910:Slc7a15
|
UTSW |
12 |
8,589,117 (GRCm39) |
start gained |
probably benign |
|
|
R9474:Slc7a15
|
UTSW |
12 |
8,588,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9786:Slc7a15
|
UTSW |
12 |
8,580,280 (GRCm39) |
missense |
probably benign |
0.31 |
|
X0027:Slc7a15
|
UTSW |
12 |
8,589,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAAGTTCAAATCCACGTAGGAG -3'
(R):5'- GTATGTCTACTGCTGTCTGCCAACC -3'
Sequencing Primer
(F):5'- GCGCTATCCTTCCCTGTC -3'
(R):5'- TGGAATCATGACCTCACGGTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation