Incidental Mutation 'R0784:Slc6a15'
| ID |
76779 |
| 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 |
038964-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0784 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
103367783-103419377 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 103416800 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074204]
[ENSMUST00000179636]
|
| AlphaFold |
Q8BG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074204
|
| SMART Domains |
Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
| 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
|
| SMART Domains |
Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:SNF
|
61 |
644 |
2.2e-229 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.1%
|
| Validation Efficiency |
97% (59/61) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,653,528 (GRCm38) |
|
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,668,003 (GRCm38) |
R182W |
probably damaging |
Het |
| Ahr |
C |
T |
12: 35,508,142 (GRCm38) |
G293D |
possibly damaging |
Het |
| Akna |
G |
T |
4: 63,376,888 (GRCm38) |
T1028K |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,127,871 (GRCm38) |
G547R |
unknown |
Het |
| Asic2 |
T |
A |
11: 80,893,989 (GRCm38) |
M324L |
possibly damaging |
Het |
| Atf6 |
A |
G |
1: 170,709,947 (GRCm38) |
F635L |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,957,073 (GRCm38) |
V195E |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,513,363 (GRCm38) |
C525S |
probably damaging |
Het |
| Cbfa2t3 |
A |
G |
8: 122,650,487 (GRCm38) |
|
probably benign |
Het |
| Cd46 |
G |
A |
1: 195,092,194 (GRCm38) |
T11M |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,758,149 (GRCm38) |
H754R |
possibly damaging |
Het |
| Clcn3 |
G |
T |
8: 60,929,203 (GRCm38) |
D450E |
probably benign |
Het |
| Cobl |
T |
G |
11: 12,266,843 (GRCm38) |
|
probably benign |
Het |
| Cyba |
T |
A |
8: 122,427,683 (GRCm38) |
T34S |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 38,021,414 (GRCm38) |
L187P |
probably damaging |
Het |
| Dennd4c |
A |
T |
4: 86,844,908 (GRCm38) |
Q1817L |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,867,678 (GRCm38) |
|
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 104,442,498 (GRCm38) |
S34P |
probably damaging |
Het |
| Emilin2 |
T |
A |
17: 71,275,287 (GRCm38) |
D148V |
possibly damaging |
Het |
| Galnt11 |
A |
G |
5: 25,258,909 (GRCm38) |
D393G |
probably damaging |
Het |
| Gm5435 |
T |
A |
12: 82,496,180 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr176 |
C |
T |
2: 118,373,052 (GRCm38) |
V46M |
possibly damaging |
Het |
| Gpr85 |
T |
A |
6: 13,836,749 (GRCm38) |
H52L |
probably benign |
Het |
| Grn |
T |
C |
11: 102,434,502 (GRCm38) |
M246T |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,825,052 (GRCm38) |
F428L |
possibly damaging |
Het |
| Hoxa13 |
G |
C |
6: 52,259,937 (GRCm38) |
N278K |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 92,360,490 (GRCm38) |
D350G |
probably benign |
Het |
| Kat2a |
C |
T |
11: 100,710,841 (GRCm38) |
M249I |
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,081,251 (GRCm38) |
Y782C |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,310,895 (GRCm38) |
F2650Y |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,518,365 (GRCm38) |
I754T |
probably benign |
Het |
| Mpl |
G |
A |
4: 118,446,406 (GRCm38) |
P472S |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,862,785 (GRCm38) |
I326T |
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,777,009 (GRCm38) |
|
probably benign |
Het |
| Mylk |
G |
C |
16: 34,879,475 (GRCm38) |
E403Q |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,896,545 (GRCm38) |
|
probably benign |
Het |
| Olfr1187-ps1 |
T |
A |
2: 88,540,167 (GRCm38) |
|
noncoding transcript |
Het |
| Olfr30 |
T |
A |
11: 58,455,305 (GRCm38) |
I215F |
possibly damaging |
Het |
| Oraov1 |
A |
T |
7: 144,919,277 (GRCm38) |
Y108F |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,714,769 (GRCm38) |
M184V |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,083,235 (GRCm38) |
D1143V |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,213,771 (GRCm38) |
|
probably benign |
Het |
| Rnf220 |
C |
A |
4: 117,277,998 (GRCm38) |
|
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,680,448 (GRCm38) |
L131P |
probably damaging |
Het |
| Shc4 |
A |
C |
2: 125,657,496 (GRCm38) |
W354G |
probably benign |
Het |
| Smtnl2 |
T |
C |
11: 72,399,937 (GRCm38) |
D394G |
probably damaging |
Het |
| Sry |
G |
T |
Y: 2,662,731 (GRCm38) |
Q310K |
unknown |
Het |
| St7l |
A |
G |
3: 104,870,924 (GRCm38) |
M126V |
probably benign |
Het |
| St8sia3 |
T |
C |
18: 64,271,701 (GRCm38) |
W350R |
probably damaging |
Het |
| Stk35 |
A |
T |
2: 129,810,802 (GRCm38) |
K408* |
probably null |
Het |
| Svs1 |
T |
A |
6: 48,987,301 (GRCm38) |
M81K |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,595,359 (GRCm38) |
|
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,253 (GRCm38) |
V252A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,846,072 (GRCm38) |
|
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,962,710 (GRCm38) |
D349G |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,059,920 (GRCm38) |
C419* |
probably null |
Het |
| Zfp541 |
A |
G |
7: 16,082,992 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Slc6a15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Slc6a15
|
APN |
10 |
103,389,141 (GRCm38) |
missense |
probably benign |
|
|
IGL01320:Slc6a15
|
APN |
10 |
103,404,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01924:Slc6a15
|
APN |
10 |
103,404,825 (GRCm38) |
splice site |
probably null |
|
|
IGL02066:Slc6a15
|
APN |
10 |
103,416,658 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02164:Slc6a15
|
APN |
10 |
103,418,222 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02551:Slc6a15
|
APN |
10 |
103,404,275 (GRCm38) |
splice site |
probably benign |
|
|
IGL02744:Slc6a15
|
APN |
10 |
103,418,033 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0028:Slc6a15
|
UTSW |
10 |
103,416,680 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0143:Slc6a15
|
UTSW |
10 |
103,418,068 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0158:Slc6a15
|
UTSW |
10 |
103,389,347 (GRCm38) |
splice site |
probably benign |
|
|
R0165:Slc6a15
|
UTSW |
10 |
103,409,809 (GRCm38) |
missense |
probably null |
0.04 |
|
R0349:Slc6a15
|
UTSW |
10 |
103,418,225 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0383:Slc6a15
|
UTSW |
10 |
103,418,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0614:Slc6a15
|
UTSW |
10 |
103,404,352 (GRCm38) |
nonsense |
probably null |
|
|
R0944:Slc6a15
|
UTSW |
10 |
103,409,796 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1795:Slc6a15
|
UTSW |
10 |
103,400,260 (GRCm38) |
missense |
probably benign |
|
|
R1882:Slc6a15
|
UTSW |
10 |
103,395,064 (GRCm38) |
missense |
probably benign |
0.20 |
|
R2061:Slc6a15
|
UTSW |
10 |
103,409,734 (GRCm38) |
missense |
probably benign |
0.20 |
|
R2156:Slc6a15
|
UTSW |
10 |
103,393,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2358:Slc6a15
|
UTSW |
10 |
103,416,785 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2849:Slc6a15
|
UTSW |
10 |
103,404,691 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2921:Slc6a15
|
UTSW |
10 |
103,418,387 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3709:Slc6a15
|
UTSW |
10 |
103,393,414 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4532:Slc6a15
|
UTSW |
10 |
103,409,787 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4825:Slc6a15
|
UTSW |
10 |
103,418,060 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4909:Slc6a15
|
UTSW |
10 |
103,404,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5112:Slc6a15
|
UTSW |
10 |
103,389,226 (GRCm38) |
missense |
probably benign |
|
|
R5320:Slc6a15
|
UTSW |
10 |
103,408,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5364:Slc6a15
|
UTSW |
10 |
103,393,508 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6305:Slc6a15
|
UTSW |
10 |
103,389,170 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6348:Slc6a15
|
UTSW |
10 |
103,404,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6729:Slc6a15
|
UTSW |
10 |
103,393,914 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6781:Slc6a15
|
UTSW |
10 |
103,395,067 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7409:Slc6a15
|
UTSW |
10 |
103,408,302 (GRCm38) |
missense |
probably benign |
|
|
R7549:Slc6a15
|
UTSW |
10 |
103,389,137 (GRCm38) |
missense |
probably benign |
|
|
R7660:Slc6a15
|
UTSW |
10 |
103,393,380 (GRCm38) |
splice site |
probably null |
|
|
R7839:Slc6a15
|
UTSW |
10 |
103,404,799 (GRCm38) |
missense |
probably benign |
|
|
R7948:Slc6a15
|
UTSW |
10 |
103,404,295 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8278:Slc6a15
|
UTSW |
10 |
103,394,029 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8379:Slc6a15
|
UTSW |
10 |
103,389,187 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8685:Slc6a15
|
UTSW |
10 |
103,409,695 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8712:Slc6a15
|
UTSW |
10 |
103,389,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8719:Slc6a15
|
UTSW |
10 |
103,404,315 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8832:Slc6a15
|
UTSW |
10 |
103,389,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8940:Slc6a15
|
UTSW |
10 |
103,393,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8978:Slc6a15
|
UTSW |
10 |
103,395,092 (GRCm38) |
nonsense |
probably null |
|
|
R9050:Slc6a15
|
UTSW |
10 |
103,416,655 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9113:Slc6a15
|
UTSW |
10 |
103,400,279 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9242:Slc6a15
|
UTSW |
10 |
103,393,545 (GRCm38) |
nonsense |
probably null |
|
|
R9493:Slc6a15
|
UTSW |
10 |
103,393,416 (GRCm38) |
missense |
probably benign |
0.35 |
|
R9529:Slc6a15
|
UTSW |
10 |
103,404,722 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9532:Slc6a15
|
UTSW |
10 |
103,404,472 (GRCm38) |
missense |
probably damaging |
0.98 |
|
RF013:Slc6a15
|
UTSW |
10 |
103,400,216 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACTCAGGTTTATAGAAGACCTCACAGACA -3'
(R):5'- AGTAGTTCTACCTCAAAACAGACCTTCCA -3'
Sequencing Primer
(F):5'- CATGTTAGGATTTGCTCCAAGC -3'
(R):5'- AAGCTGTGCAATCACTGTTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation