Incidental Mutation 'R7839:Slc6a15'
| ID |
606173 |
| 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 |
045893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7839 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
103203644-103255238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103240660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 428
(I428V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074204]
[ENSMUST00000179636]
|
| AlphaFold |
Q8BG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074204
AA Change: I428V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: I428V
| 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: I428V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: I428V
| 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 |
0.0670 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,025,085 (GRCm39) |
M986K |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,413 (GRCm39) |
K129R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,526,528 (GRCm39) |
D90G |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,411,213 (GRCm39) |
H1361Y |
probably damaging |
Het |
| Aqp4 |
T |
A |
18: 15,532,737 (GRCm39) |
I119F |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,770 (GRCm39) |
I313F |
possibly damaging |
Het |
| Cxcl9 |
A |
G |
5: 92,475,869 (GRCm39) |
V5A |
probably benign |
Het |
| Cyfip1 |
G |
A |
7: 55,536,483 (GRCm39) |
V304M |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,987,893 (GRCm39) |
V499A |
possibly damaging |
Het |
| Cyth3 |
A |
G |
5: 143,683,509 (GRCm39) |
E136G |
probably benign |
Het |
| Degs2 |
CTTAGTGAAT |
CT |
12: 108,658,460 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,606,334 (GRCm39) |
S1229P |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,424,818 (GRCm39) |
C2087* |
probably null |
Het |
| Dop1b |
A |
T |
16: 93,560,829 (GRCm39) |
H889L |
probably damaging |
Het |
| Elf1 |
A |
G |
14: 79,773,855 (GRCm39) |
E22G |
probably benign |
Het |
| Gbgt1 |
T |
C |
2: 28,393,182 (GRCm39) |
V90A |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,294,773 (GRCm39) |
D675G |
possibly damaging |
Het |
| Glt8d1 |
G |
T |
14: 30,723,788 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
A |
2: 148,525,815 (GRCm39) |
Y95* |
probably null |
Het |
| Insig2 |
T |
C |
1: 121,240,049 (GRCm39) |
I84V |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
| Nell2 |
T |
C |
15: 95,196,819 (GRCm39) |
N499S |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,758,398 (GRCm39) |
R545H |
possibly damaging |
Het |
| Obox7 |
T |
A |
7: 14,399,350 (GRCm39) |
I192N |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,106,026 (GRCm39) |
I80V |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,899 (GRCm39) |
I171F |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,060,583 (GRCm39) |
V3118E |
probably damaging |
Het |
| Plk3 |
T |
C |
4: 116,986,527 (GRCm39) |
T571A |
probably damaging |
Het |
| Ppa2 |
T |
C |
3: 133,082,351 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
A |
T |
2: 25,482,829 (GRCm39) |
H183Q |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,238 (GRCm39) |
S387T |
possibly damaging |
Het |
| Rbm33 |
A |
G |
5: 28,573,397 (GRCm39) |
|
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,055 (GRCm39) |
S724P |
probably damaging |
Het |
| Rtf2 |
T |
C |
2: 172,308,253 (GRCm39) |
|
probably null |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,887 (GRCm39) |
T79A |
possibly damaging |
Het |
| Slc45a2 |
A |
T |
15: 11,027,835 (GRCm39) |
Q468L |
probably benign |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,967 (GRCm39) |
A187E |
possibly damaging |
Het |
| Tmt1a |
T |
C |
15: 100,202,957 (GRCm39) |
V77A |
possibly damaging |
Het |
| Tob1 |
T |
A |
11: 94,104,598 (GRCm39) |
Y45N |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,024,646 (GRCm39) |
V1161A |
possibly damaging |
Het |
| Trbv13-2 |
T |
C |
6: 41,098,521 (GRCm39) |
V32A |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,254,176 (GRCm39) |
L133Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,538,512 (GRCm39) |
T34729A |
probably benign |
Het |
| Uba6 |
G |
T |
5: 86,270,271 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,840,596 (GRCm39) |
D85G |
possibly damaging |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,394 (GRCm39) |
D253G |
possibly damaging |
Het |
| Vmn2r34 |
T |
A |
7: 7,687,173 (GRCm39) |
I175F |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,032 (GRCm39) |
I215N |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,634,799 (GRCm39) |
S202R |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,614,483 (GRCm39) |
C246Y |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,395,963 (GRCm39) |
D208G |
probably damaging |
Het |
| Zfp992 |
C |
A |
4: 146,550,875 (GRCm39) |
L199I |
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 |
|
|
R1882:Slc6a15
|
UTSW |
10 |
103,230,925 (GRCm39) |
missense |
probably benign |
0.20 |
|
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 |
|
|
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'- CCACTAGCATTTCATGGCATAATTC -3'
(R):5'- GTAAACACACTCTATGAGATGCAC -3'
Sequencing Primer
(F):5'- ACTTTTCAGAAACTCCGAGATGATC -3'
(R):5'- CTCTATGAGATGCACAGTTATCGGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation