Incidental Mutation 'R2887:Slc7a13'
| ID |
261076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc7a13
|
| Ensembl Gene |
ENSMUSG00000041052 |
| Gene Name |
solute carrier family 7, (cationic amino acid transporter, y+ system) member 13 |
| Synonyms |
AGT-1, XAT2, 0610009O04Rik, AGT1 |
| MMRRC Submission |
040475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
19818727-19842213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19819052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 84
(Y84C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035890]
|
| AlphaFold |
Q91WN3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035890
AA Change: Y84C
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000036228
Gene: ENSMUSG00000041052
AA Change: Y84C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
17 |
440 |
3.3e-44 |
PFAM |
|
Pfam:AA_permease
|
21 |
454 |
3.7e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,395 (GRCm39) |
S65P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,209,040 (GRCm39) |
S54P |
probably benign |
Het |
| Clec7a |
C |
T |
6: 129,447,960 (GRCm39) |
G35E |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,393,120 (GRCm39) |
R239C |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,235,341 (GRCm39) |
T214A |
probably benign |
Het |
| Emg1 |
T |
C |
6: 124,682,026 (GRCm39) |
H166R |
probably damaging |
Het |
| Fibin |
T |
A |
2: 110,193,122 (GRCm39) |
I7F |
probably benign |
Het |
| Golm1 |
G |
T |
13: 59,788,044 (GRCm39) |
T285K |
probably benign |
Het |
| Ivl |
C |
A |
3: 92,478,699 (GRCm39) |
R455S |
unknown |
Het |
| Lama4 |
A |
C |
10: 38,968,250 (GRCm39) |
Q1464P |
possibly damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,218,138 (GRCm39) |
I175F |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,007,916 (GRCm39) |
V711A |
probably damaging |
Het |
| Rimklb |
T |
C |
6: 122,449,657 (GRCm39) |
T6A |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,549 (GRCm39) |
H399R |
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Tcf7l1 |
G |
A |
6: 72,609,071 (GRCm39) |
S297L |
probably damaging |
Het |
| Vmn2r98 |
G |
T |
17: 19,301,439 (GRCm39) |
A814S |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,190 (GRCm39) |
T265K |
probably damaging |
Het |
|
| Other mutations in Slc7a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01769:Slc7a13
|
APN |
4 |
19,839,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02491:Slc7a13
|
APN |
4 |
19,841,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02541:Slc7a13
|
APN |
4 |
19,839,212 (GRCm39) |
splice site |
probably benign |
|
|
IGL02814:Slc7a13
|
APN |
4 |
19,839,387 (GRCm39) |
missense |
probably benign |
|
|
R0145:Slc7a13
|
UTSW |
4 |
19,818,782 (GRCm39) |
start gained |
probably benign |
|
|
R0305:Slc7a13
|
UTSW |
4 |
19,839,401 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0468:Slc7a13
|
UTSW |
4 |
19,841,500 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0522:Slc7a13
|
UTSW |
4 |
19,824,010 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0848:Slc7a13
|
UTSW |
4 |
19,818,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1240:Slc7a13
|
UTSW |
4 |
19,819,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Slc7a13
|
UTSW |
4 |
19,824,031 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1830:Slc7a13
|
UTSW |
4 |
19,819,046 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1903:Slc7a13
|
UTSW |
4 |
19,839,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1952:Slc7a13
|
UTSW |
4 |
19,841,578 (GRCm39) |
missense |
probably benign |
|
|
R2229:Slc7a13
|
UTSW |
4 |
19,839,399 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4175:Slc7a13
|
UTSW |
4 |
19,819,492 (GRCm39) |
missense |
probably null |
0.99 |
|
R4233:Slc7a13
|
UTSW |
4 |
19,819,070 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4764:Slc7a13
|
UTSW |
4 |
19,819,390 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4941:Slc7a13
|
UTSW |
4 |
19,841,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5355:Slc7a13
|
UTSW |
4 |
19,839,267 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6221:Slc7a13
|
UTSW |
4 |
19,839,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6641:Slc7a13
|
UTSW |
4 |
19,839,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Slc7a13
|
UTSW |
4 |
19,839,364 (GRCm39) |
missense |
probably benign |
|
|
R8188:Slc7a13
|
UTSW |
4 |
19,819,082 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8384:Slc7a13
|
UTSW |
4 |
19,823,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Slc7a13
|
UTSW |
4 |
19,841,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8830:Slc7a13
|
UTSW |
4 |
19,819,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9140:Slc7a13
|
UTSW |
4 |
19,819,487 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9663:Slc7a13
|
UTSW |
4 |
19,818,818 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9764:Slc7a13
|
UTSW |
4 |
19,819,033 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCGTCTTAAGAGAGAACTTGG -3'
(R):5'- CCAGGGCCAGACATTTTCTTG -3'
Sequencing Primer
(F):5'- ACTTGGATATTTCTGGGGGACAAAC -3'
(R):5'- CCAGACATTTTCTTGGTAGAATCGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation