Incidental Mutation 'R1882:Slc6a15'
| ID |
209190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a15
|
| Ensembl Gene |
ENSMUSG00000019894 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 15 |
| Synonyms |
v7-3 |
| MMRRC Submission |
039903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
103203644-103255238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103230925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 217
(S217P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074204]
[ENSMUST00000179636]
[ENSMUST00000217905]
|
| AlphaFold |
Q8BG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074204
AA Change: S217P
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: S217P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:SNF
|
61 |
644 |
2.2e-229 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179636
AA Change: S217P
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: S217P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:SNF
|
61 |
644 |
2.2e-229 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219936
|
| Meta Mutation Damage Score |
0.4271 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased synaptosome transport activities but exhibit no behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,786,945 (GRCm39) |
S189P |
probably benign |
Het |
| Adgrg3 |
G |
T |
8: 95,766,943 (GRCm39) |
V433F |
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,222,234 (GRCm39) |
W1233R |
probably damaging |
Het |
| Brf2 |
T |
C |
8: 27,618,577 (GRCm39) |
D9G |
probably damaging |
Het |
| Btrc |
G |
A |
19: 45,515,839 (GRCm39) |
R562Q |
probably damaging |
Het |
| Cenpu |
T |
C |
8: 47,009,225 (GRCm39) |
F67L |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,790 (GRCm39) |
M150T |
probably damaging |
Het |
| Cntln |
A |
G |
4: 85,019,072 (GRCm39) |
E1254G |
probably damaging |
Het |
| Creld1 |
G |
A |
6: 113,469,166 (GRCm39) |
C332Y |
probably damaging |
Het |
| Ctla2a |
A |
G |
13: 61,083,355 (GRCm39) |
|
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,785,043 (GRCm39) |
D223E |
probably benign |
Het |
| Ext1 |
C |
A |
15: 52,939,188 (GRCm39) |
L620F |
probably damaging |
Het |
| H2-DMb2 |
C |
T |
17: 34,366,834 (GRCm39) |
R89C |
probably damaging |
Het |
| Klhl32 |
A |
T |
4: 24,743,916 (GRCm39) |
L17* |
probably null |
Het |
| Lats2 |
C |
T |
14: 57,934,811 (GRCm39) |
V640M |
probably damaging |
Het |
| Lrig3 |
G |
A |
10: 125,845,694 (GRCm39) |
V708I |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,686,315 (GRCm39) |
T415A |
probably benign |
Het |
| Mynn |
A |
G |
3: 30,670,962 (GRCm39) |
*611W |
probably null |
Het |
| Nfx1 |
A |
G |
4: 41,009,240 (GRCm39) |
T793A |
possibly damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,116,604 (GRCm39) |
|
noncoding transcript |
Het |
| Nos3 |
T |
C |
5: 24,573,818 (GRCm39) |
V194A |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,167,473 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,154,150 (GRCm39) |
D589G |
probably damaging |
Het |
| Omg |
C |
T |
11: 79,392,545 (GRCm39) |
|
probably benign |
Het |
| Or10v9 |
T |
C |
19: 11,832,835 (GRCm39) |
T161A |
probably damaging |
Het |
| Or14j5 |
T |
C |
17: 38,161,839 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2y17 |
A |
G |
11: 49,231,539 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,519,950 (GRCm39) |
M59K |
probably damaging |
Het |
| P2ry2 |
G |
T |
7: 100,648,058 (GRCm39) |
Y82* |
probably null |
Het |
| Pcdh1 |
T |
C |
18: 38,335,895 (GRCm39) |
T247A |
possibly damaging |
Het |
| Pecr |
A |
T |
1: 72,314,136 (GRCm39) |
|
probably null |
Het |
| Pgm3 |
A |
G |
9: 86,447,743 (GRCm39) |
Y167H |
possibly damaging |
Het |
| Pramel15 |
A |
T |
4: 144,103,485 (GRCm39) |
C214S |
probably benign |
Het |
| Prmt2 |
T |
C |
10: 76,058,302 (GRCm39) |
H169R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,506,251 (GRCm39) |
S58T |
possibly damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
C |
A |
6: 141,939,363 (GRCm39) |
|
probably null |
Het |
| Snx27 |
G |
A |
3: 94,426,416 (GRCm39) |
T361I |
probably damaging |
Het |
| St7l |
A |
G |
3: 104,775,363 (GRCm39) |
T80A |
probably damaging |
Het |
| Stk32b |
T |
A |
5: 37,689,031 (GRCm39) |
M98L |
possibly damaging |
Het |
| Tonsl |
C |
A |
15: 76,508,350 (GRCm39) |
A6S |
possibly damaging |
Het |
| Tpx2 |
A |
G |
2: 152,711,611 (GRCm39) |
R49G |
probably benign |
Het |
| Trmt2a |
A |
G |
16: 18,067,758 (GRCm39) |
K144E |
possibly damaging |
Het |
| Trpm7 |
A |
C |
2: 126,654,697 (GRCm39) |
L1414V |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,580,939 (GRCm39) |
K107E |
possibly damaging |
Het |
| Vamp3 |
A |
T |
4: 151,135,366 (GRCm39) |
|
probably benign |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,651 (GRCm39) |
S179P |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,963 (GRCm39) |
M269V |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,464,476 (GRCm39) |
T605A |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,615,520 (GRCm39) |
T134A |
possibly damaging |
Het |
| Zfp277 |
T |
C |
12: 40,495,745 (GRCm39) |
E5G |
probably benign |
Het |
|
| Other mutations in Slc6a15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Slc6a15
|
APN |
10 |
103,225,002 (GRCm39) |
missense |
probably benign |
|
|
IGL01320:Slc6a15
|
APN |
10 |
103,240,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01924:Slc6a15
|
APN |
10 |
103,240,686 (GRCm39) |
splice site |
probably null |
|
|
IGL02066:Slc6a15
|
APN |
10 |
103,252,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02164:Slc6a15
|
APN |
10 |
103,254,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02551:Slc6a15
|
APN |
10 |
103,240,136 (GRCm39) |
splice site |
probably benign |
|
|
IGL02744:Slc6a15
|
APN |
10 |
103,253,894 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0028:Slc6a15
|
UTSW |
10 |
103,252,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0143:Slc6a15
|
UTSW |
10 |
103,253,929 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0158:Slc6a15
|
UTSW |
10 |
103,225,208 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Slc6a15
|
UTSW |
10 |
103,245,670 (GRCm39) |
missense |
probably null |
0.04 |
|
R0349:Slc6a15
|
UTSW |
10 |
103,254,086 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0383:Slc6a15
|
UTSW |
10 |
103,253,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Slc6a15
|
UTSW |
10 |
103,240,213 (GRCm39) |
nonsense |
probably null |
|
|
R0784:Slc6a15
|
UTSW |
10 |
103,252,661 (GRCm39) |
splice site |
probably benign |
|
|
R0944:Slc6a15
|
UTSW |
10 |
103,245,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1795:Slc6a15
|
UTSW |
10 |
103,236,121 (GRCm39) |
missense |
probably benign |
|
|
R2061:Slc6a15
|
UTSW |
10 |
103,245,595 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2156:Slc6a15
|
UTSW |
10 |
103,229,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2358:Slc6a15
|
UTSW |
10 |
103,252,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2849:Slc6a15
|
UTSW |
10 |
103,240,552 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2921:Slc6a15
|
UTSW |
10 |
103,254,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3709:Slc6a15
|
UTSW |
10 |
103,229,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4532:Slc6a15
|
UTSW |
10 |
103,245,648 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4825:Slc6a15
|
UTSW |
10 |
103,253,921 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4909:Slc6a15
|
UTSW |
10 |
103,240,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Slc6a15
|
UTSW |
10 |
103,225,087 (GRCm39) |
missense |
probably benign |
|
|
R5320:Slc6a15
|
UTSW |
10 |
103,244,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Slc6a15
|
UTSW |
10 |
103,229,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6305:Slc6a15
|
UTSW |
10 |
103,225,031 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6348:Slc6a15
|
UTSW |
10 |
103,240,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6729:Slc6a15
|
UTSW |
10 |
103,229,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6781:Slc6a15
|
UTSW |
10 |
103,230,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7409:Slc6a15
|
UTSW |
10 |
103,244,163 (GRCm39) |
missense |
probably benign |
|
|
R7549:Slc6a15
|
UTSW |
10 |
103,224,998 (GRCm39) |
missense |
probably benign |
|
|
R7660:Slc6a15
|
UTSW |
10 |
103,229,241 (GRCm39) |
splice site |
probably null |
|
|
R7839:Slc6a15
|
UTSW |
10 |
103,240,660 (GRCm39) |
missense |
probably benign |
|
|
R7948:Slc6a15
|
UTSW |
10 |
103,240,156 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8278:Slc6a15
|
UTSW |
10 |
103,229,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8379:Slc6a15
|
UTSW |
10 |
103,225,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8685:Slc6a15
|
UTSW |
10 |
103,245,556 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8712:Slc6a15
|
UTSW |
10 |
103,225,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Slc6a15
|
UTSW |
10 |
103,240,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8832:Slc6a15
|
UTSW |
10 |
103,225,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Slc6a15
|
UTSW |
10 |
103,229,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Slc6a15
|
UTSW |
10 |
103,230,953 (GRCm39) |
nonsense |
probably null |
|
|
R9050:Slc6a15
|
UTSW |
10 |
103,252,516 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9113:Slc6a15
|
UTSW |
10 |
103,236,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Slc6a15
|
UTSW |
10 |
103,229,406 (GRCm39) |
nonsense |
probably null |
|
|
R9493:Slc6a15
|
UTSW |
10 |
103,229,277 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9529:Slc6a15
|
UTSW |
10 |
103,240,583 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9532:Slc6a15
|
UTSW |
10 |
103,240,333 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF013:Slc6a15
|
UTSW |
10 |
103,236,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGGCTAATGGGCTTGTG -3'
(R):5'- TCTGTAGATGCCTAGACAAAGTAG -3'
Sequencing Primer
(F):5'- TCCCCAACAGATGTTGAG -3'
(R):5'- TAGATGCCTAGACAAAGTAGTCAAAC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation