Incidental Mutation 'R6641:Slc7a13'
| ID |
525784 |
| 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 |
044762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6641 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
19818727-19842213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19839534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 379
(G379E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035890]
|
| AlphaFold |
Q91WN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035890
AA Change: G379E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036228
Gene: ENSMUSG00000041052
AA Change: G379E
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
C |
T |
16: 88,555,974 (GRCm39) |
P63S |
unknown |
Het |
| Aadac |
T |
C |
3: 59,947,153 (GRCm39) |
S284P |
probably damaging |
Het |
| Casp12 |
G |
A |
9: 5,354,612 (GRCm39) |
C257Y |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,240 (GRCm39) |
I361F |
possibly damaging |
Het |
| Cubn |
A |
C |
2: 13,480,875 (GRCm39) |
S327A |
probably damaging |
Het |
| Desi2 |
A |
T |
1: 178,071,943 (GRCm39) |
E82D |
possibly damaging |
Het |
| Dym |
T |
A |
18: 75,189,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Gm14418 |
G |
T |
2: 177,079,623 (GRCm39) |
T124K |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,870,164 (GRCm39) |
I701N |
probably damaging |
Het |
| Gm3404 |
C |
A |
5: 146,464,518 (GRCm39) |
A173D |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,660,721 (GRCm39) |
L738Q |
probably damaging |
Het |
| Klk10 |
G |
T |
7: 43,434,324 (GRCm39) |
D239Y |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,132 (GRCm39) |
|
probably benign |
Het |
| Lepr |
T |
A |
4: 101,622,502 (GRCm39) |
D427E |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,702,287 (GRCm39) |
R177W |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,727,301 (GRCm39) |
T318A |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,219,737 (GRCm39) |
V1044A |
probably benign |
Het |
| Nrsn2 |
A |
G |
2: 152,211,830 (GRCm39) |
V67A |
probably benign |
Het |
| Or2b11 |
T |
C |
11: 59,461,666 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,850 (GRCm39) |
E444G |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,322,762 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,460 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
T |
G |
2: 53,031,638 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,134,132 (GRCm39) |
Y2599D |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,287,411 (GRCm39) |
I42N |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,783,022 (GRCm39) |
A216V |
possibly damaging |
Het |
| Slc33a1 |
T |
A |
3: 63,861,327 (GRCm39) |
T292S |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,837,378 (GRCm39) |
K56R |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,245 (GRCm39) |
I193V |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,383 (GRCm39) |
E593G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,626,059 (GRCm39) |
M1169K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
A |
G |
9: 121,498,631 (GRCm39) |
*460W |
probably null |
Het |
| Zbtb18 |
T |
A |
1: 177,275,609 (GRCm39) |
L323Q |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,270 (GRCm39) |
S129P |
probably benign |
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 |
|
R2887:Slc7a13
|
UTSW |
4 |
19,819,052 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
|
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'- AAGTGAGAATGGCCAGCTGC -3'
(R):5'- AGAGAGATGATAATCTGCCTAAGC -3'
Sequencing Primer
(F):5'- CCAGCTGCCTTTGTTGTTTTG -3'
(R):5'- GGCCTCATTTATTTCTGTACCAAGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation