Incidental Mutation 'IGL02551:Slc6a15'
| ID |
298120 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc6a15
|
| Ensembl Gene |
ENSMUSG00000019894 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter), member 15 |
| Synonyms |
v7-3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
103367783-103419377 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 103404275 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 |
|
| Coding Region Coverage |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
G |
A |
1: 158,969,048 (GRCm38) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 110,084,242 (GRCm38) |
I109V |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,573,284 (GRCm38) |
P117S |
probably damaging |
Het |
| Adamts18 |
C |
A |
8: 113,699,072 (GRCm38) |
C1186F |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,870,038 (GRCm38) |
V522E |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,543,233 (GRCm38) |
T694A |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,119,222 (GRCm38) |
V609I |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,823,071 (GRCm38) |
K638R |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,372,751 (GRCm38) |
N66I |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,418,091 (GRCm38) |
I245N |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,132,640 (GRCm38) |
V120A |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,930,346 (GRCm38) |
E465G |
probably damaging |
Het |
| Btrc |
G |
T |
19: 45,423,134 (GRCm38) |
C31F |
possibly damaging |
Het |
| Calhm2 |
G |
A |
19: 47,133,100 (GRCm38) |
S210L |
probably damaging |
Het |
| Cnksr3 |
C |
A |
10: 7,152,912 (GRCm38) |
K153N |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,943,686 (GRCm38) |
S25P |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,639,353 (GRCm38) |
W838R |
probably damaging |
Het |
| Fam78a |
T |
A |
2: 32,069,556 (GRCm38) |
T181S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,051,398 (GRCm38) |
T4600A |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 121,566,344 (GRCm38) |
Y101N |
probably damaging |
Het |
| Glmp |
A |
G |
3: 88,325,082 (GRCm38) |
M1V |
probably null |
Het |
| Gsdmc |
T |
A |
15: 63,801,933 (GRCm38) |
T168S |
probably benign |
Het |
| Has1 |
C |
T |
17: 17,848,298 (GRCm38) |
V265I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,454,811 (GRCm38) |
D4670G |
possibly damaging |
Het |
| Kcnj4 |
C |
T |
15: 79,484,902 (GRCm38) |
M292I |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,637,919 (GRCm38) |
S80C |
probably damaging |
Het |
| Lrrc8d |
C |
T |
5: 105,813,548 (GRCm38) |
T608I |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 112,323,990 (GRCm38) |
N635I |
probably benign |
Het |
| Nags |
T |
C |
11: 102,147,941 (GRCm38) |
S403P |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,323,338 (GRCm38) |
I776F |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,102,462 (GRCm38) |
N1018K |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,154,731 (GRCm38) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 94,227,833 (GRCm38) |
Q53* |
probably null |
Het |
| Pdk2 |
T |
A |
11: 95,028,586 (GRCm38) |
M288L |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,573,815 (GRCm38) |
Y1492C |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,403,870 (GRCm38) |
W34R |
probably damaging |
Het |
| Pla2g6 |
T |
A |
15: 79,299,094 (GRCm38) |
D511V |
possibly damaging |
Het |
| Plin2 |
C |
A |
4: 86,658,692 (GRCm38) |
M265I |
probably benign |
Het |
| Ppp6c |
A |
T |
2: 39,206,657 (GRCm38) |
F78I |
probably damaging |
Het |
| Prop1 |
A |
T |
11: 50,950,946 (GRCm38) |
M211K |
possibly damaging |
Het |
| Prr14l |
T |
A |
5: 32,831,484 (GRCm38) |
E222D |
probably damaging |
Het |
| Rtkn |
A |
T |
6: 83,151,924 (GRCm38) |
I454F |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,260,774 (GRCm38) |
I226V |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,904,338 (GRCm38) |
H229Q |
probably benign |
Het |
| Slc13a3 |
G |
T |
2: 165,424,573 (GRCm38) |
F348L |
probably damaging |
Het |
| Spg7 |
G |
A |
8: 123,076,978 (GRCm38) |
G249E |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,649,916 (GRCm38) |
D40G |
probably benign |
Het |
| Tmcc2 |
A |
G |
1: 132,357,579 (GRCm38) |
L683P |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,973,489 (GRCm38) |
S1097P |
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,965,763 (GRCm38) |
D167G |
probably null |
Het |
| Ttll6 |
T |
C |
11: 96,154,700 (GRCm38) |
I581T |
probably benign |
Het |
| Usp29 |
A |
G |
7: 6,963,353 (GRCm38) |
|
probably null |
Het |
| Vgll4 |
A |
G |
6: 114,862,293 (GRCm38) |
W246R |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,026,141 (GRCm38) |
V170A |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,788,506 (GRCm38) |
T185A |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,645,036 (GRCm38) |
H234R |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,462 (GRCm38) |
E2194G |
possibly damaging |
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 |
|
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 |
|
|
R0784:Slc6a15
|
UTSW |
10 |
103,416,800 (GRCm38) |
splice site |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation