Incidental Mutation 'R2849:Slc6a15'
| ID |
251991 |
| 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 |
040442-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2849 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
103203644-103255238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 103240552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 392
(H392N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074204]
[ENSMUST00000179636]
|
| AlphaFold |
Q8BG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074204
AA Change: H392N
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: H392N
| 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: H392N
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: H392N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:SNF
|
61 |
644 |
2.2e-229 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,932,931 (GRCm39) |
D1231G |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,054,021 (GRCm39) |
I1017V |
probably benign |
Het |
| Agpat2 |
A |
G |
2: 26,487,251 (GRCm39) |
I109T |
probably damaging |
Het |
| Aldh9a1 |
G |
A |
1: 167,180,197 (GRCm39) |
R97H |
probably damaging |
Het |
| Als2 |
G |
A |
1: 59,245,697 (GRCm39) |
T593M |
probably damaging |
Het |
| Ap3d1 |
G |
C |
10: 80,577,742 (GRCm39) |
H28Q |
possibly damaging |
Het |
| Atxn1 |
A |
T |
13: 45,720,175 (GRCm39) |
D573E |
probably damaging |
Het |
| Begain |
T |
A |
12: 108,999,044 (GRCm39) |
M576L |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,995,419 (GRCm39) |
N109S |
probably damaging |
Het |
| Boll |
A |
G |
1: 55,385,532 (GRCm39) |
M131T |
possibly damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,936 (GRCm39) |
R282G |
probably damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,770 (GRCm39) |
F330L |
probably benign |
Het |
| Chst13 |
T |
C |
6: 90,286,140 (GRCm39) |
D274G |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,429,182 (GRCm39) |
T156A |
probably benign |
Het |
| Cstdc5 |
T |
A |
16: 36,187,814 (GRCm39) |
Q17L |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,700,530 (GRCm39) |
V649A |
probably damaging |
Het |
| Deaf1 |
T |
C |
7: 140,894,367 (GRCm39) |
*54W |
probably null |
Het |
| Fbf1 |
C |
T |
11: 116,048,514 (GRCm39) |
|
probably null |
Het |
| Fbxo32 |
C |
T |
15: 58,071,368 (GRCm39) |
S71N |
probably benign |
Het |
| Fbxo42 |
T |
A |
4: 140,927,821 (GRCm39) |
N700K |
probably damaging |
Het |
| Fis1 |
T |
C |
5: 136,991,971 (GRCm39) |
I55T |
possibly damaging |
Het |
| Fyco1 |
A |
T |
9: 123,663,891 (GRCm39) |
L121* |
probably null |
Het |
| Gm2381 |
G |
A |
7: 42,469,831 (GRCm39) |
P98S |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,387,861 (GRCm39) |
T946I |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,439,350 (GRCm39) |
Y5494* |
probably null |
Het |
| Josd2 |
A |
G |
7: 44,118,397 (GRCm39) |
|
probably null |
Het |
| Lfng |
T |
A |
5: 140,597,622 (GRCm39) |
D149E |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,378,165 (GRCm39) |
A4052T |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,924,810 (GRCm39) |
N119S |
probably damaging |
Het |
| Lypd6 |
C |
T |
2: 50,055,664 (GRCm39) |
P38L |
probably damaging |
Het |
| Msl3l2 |
T |
C |
10: 55,991,538 (GRCm39) |
C88R |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,361,505 (GRCm39) |
T158A |
probably damaging |
Het |
| Nudt22 |
A |
T |
19: 6,970,852 (GRCm39) |
S239R |
probably benign |
Het |
| Or4g7 |
T |
C |
2: 111,309,699 (GRCm39) |
M190T |
probably benign |
Het |
| Or52r1c |
A |
T |
7: 102,735,319 (GRCm39) |
D193V |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,235,384 (GRCm39) |
F339L |
probably damaging |
Het |
| Pcdhga10 |
T |
A |
18: 37,881,253 (GRCm39) |
V338E |
possibly damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,487,666 (GRCm39) |
F1779S |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,162,467 (GRCm39) |
K1349E |
probably damaging |
Het |
| Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
| Ptpra |
C |
A |
2: 130,386,919 (GRCm39) |
H603Q |
probably benign |
Het |
| Rnf10 |
T |
C |
5: 115,387,171 (GRCm39) |
D439G |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,623,093 (GRCm39) |
N731K |
probably benign |
Het |
| Slc2a4 |
T |
A |
11: 69,836,997 (GRCm39) |
N116Y |
probably damaging |
Het |
| Slco6d1 |
C |
T |
1: 98,394,441 (GRCm39) |
T375I |
probably benign |
Het |
| Smpd4 |
A |
G |
16: 17,460,076 (GRCm39) |
D436G |
probably damaging |
Het |
| Spata22 |
G |
A |
11: 73,244,571 (GRCm39) |
W311* |
probably null |
Het |
| Syt3 |
G |
A |
7: 44,042,866 (GRCm39) |
V383I |
probably benign |
Het |
| Tle6 |
T |
A |
10: 81,430,235 (GRCm39) |
I306F |
probably damaging |
Het |
| Tox3 |
G |
A |
8: 90,975,018 (GRCm39) |
Q538* |
probably null |
Het |
| Trim24 |
T |
A |
6: 37,933,388 (GRCm39) |
S656T |
probably damaging |
Het |
| Trnau1ap |
C |
A |
4: 132,049,045 (GRCm39) |
V119F |
possibly damaging |
Het |
| Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,333 (GRCm39) |
V202A |
probably damaging |
Het |
| Zfp607b |
G |
A |
7: 27,401,819 (GRCm39) |
V92I |
probably benign |
Het |
| Zfp964 |
G |
C |
8: 70,116,504 (GRCm39) |
C368S |
unknown |
Het |
| Zw10 |
A |
G |
9: 48,968,941 (GRCm39) |
|
probably null |
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 |
|
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'- AGTTCTGGGGTTCAAAGCC -3'
(R):5'- TCCCCTTTCCTGAAGAAGGC -3'
Sequencing Primer
(F):5'- GGGTTCAAAGCCAATATCGTAAATG -3'
(R):5'- CAGATGAAGCACACTTTAACTAACTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation