Incidental Mutation 'R0158:Slc6a15'
| ID |
22988 |
| 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 |
038438-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
103203644-103255238 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 103225208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074204]
[ENSMUST00000179636]
[ENSMUST00000217905]
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219936
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.1%
|
| Validation Efficiency |
93% (79/85) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
C |
T |
16: 20,371,316 (GRCm39) |
R437C |
probably damaging |
Het |
| Abhd3 |
A |
G |
18: 10,647,840 (GRCm39) |
Y315H |
possibly damaging |
Het |
| Adam19 |
C |
T |
11: 46,033,861 (GRCm39) |
P891L |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 102,999,046 (GRCm39) |
Y400* |
probably null |
Het |
| Ap1g1 |
T |
C |
8: 110,582,267 (GRCm39) |
S724P |
probably benign |
Het |
| Bst2 |
T |
A |
8: 71,989,861 (GRCm39) |
T71S |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,531,851 (GRCm39) |
|
probably null |
Het |
| Cacna2d1 |
C |
A |
5: 16,566,815 (GRCm39) |
|
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,213,709 (GRCm39) |
H43Y |
possibly damaging |
Het |
| Ccdc71 |
T |
G |
9: 108,341,336 (GRCm39) |
V383G |
probably benign |
Het |
| Cd109 |
A |
T |
9: 78,596,214 (GRCm39) |
Q849L |
possibly damaging |
Het |
| Cdkn2a |
A |
T |
4: 89,195,004 (GRCm39) |
H115Q |
possibly damaging |
Het |
| Ces1e |
T |
C |
8: 93,946,057 (GRCm39) |
E161G |
probably benign |
Het |
| Cggbp1 |
C |
T |
16: 64,676,201 (GRCm39) |
S89L |
possibly damaging |
Het |
| Crocc |
A |
T |
4: 140,769,553 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,505,687 (GRCm39) |
L2272* |
probably null |
Het |
| Eef1akmt3 |
G |
A |
10: 126,869,142 (GRCm39) |
Q111* |
probably null |
Het |
| Exoc7 |
T |
C |
11: 116,186,118 (GRCm39) |
N361S |
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,187,011 (GRCm39) |
S1278R |
probably benign |
Het |
| Fbxo42 |
A |
G |
4: 140,927,640 (GRCm39) |
N640S |
probably benign |
Het |
| Fbxw25 |
A |
G |
9: 109,483,720 (GRCm39) |
V164A |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,854,917 (GRCm39) |
I1848V |
probably damaging |
Het |
| Foxs1 |
T |
C |
2: 152,774,330 (GRCm39) |
E241G |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,924,493 (GRCm39) |
I3645F |
possibly damaging |
Het |
| Gm14496 |
T |
A |
2: 181,639,206 (GRCm39) |
V432E |
probably benign |
Het |
| H3c2 |
T |
A |
13: 23,936,693 (GRCm39) |
C111S |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,403,203 (GRCm39) |
L4374* |
probably null |
Het |
| Ift122 |
T |
C |
6: 115,901,445 (GRCm39) |
|
probably benign |
Het |
| Itgav |
C |
A |
2: 83,622,381 (GRCm39) |
N654K |
probably benign |
Het |
| Itih5 |
T |
C |
2: 10,239,803 (GRCm39) |
|
probably benign |
Het |
| Jak2 |
C |
A |
19: 29,289,157 (GRCm39) |
T1103K |
probably benign |
Het |
| Kcnc4 |
C |
A |
3: 107,365,920 (GRCm39) |
C96F |
probably benign |
Het |
| Med13l |
C |
A |
5: 118,880,514 (GRCm39) |
S1202Y |
unknown |
Het |
| Mefv |
T |
C |
16: 3,533,320 (GRCm39) |
E317G |
possibly damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,222,608 (GRCm39) |
T1226A |
probably benign |
Het |
| Nktr |
C |
T |
9: 121,579,757 (GRCm39) |
|
probably benign |
Het |
| Nudt5 |
G |
A |
2: 5,867,114 (GRCm39) |
V61M |
probably damaging |
Het |
| Or51a39 |
C |
T |
7: 102,363,162 (GRCm39) |
A153T |
probably benign |
Het |
| Pakap |
A |
G |
4: 57,709,649 (GRCm39) |
D198G |
possibly damaging |
Het |
| Pcdhb2 |
A |
C |
18: 37,430,283 (GRCm39) |
Y752S |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
| Pnp2 |
G |
A |
14: 51,201,761 (GRCm39) |
R249H |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,542,121 (GRCm39) |
I32F |
probably damaging |
Het |
| Rnf139 |
A |
G |
15: 58,770,727 (GRCm39) |
T251A |
probably benign |
Het |
| Rnf41 |
A |
G |
10: 128,274,104 (GRCm39) |
E252G |
probably damaging |
Het |
| Rxfp2 |
T |
A |
5: 149,975,093 (GRCm39) |
F220Y |
probably benign |
Het |
| Sdcbp |
A |
G |
4: 6,379,042 (GRCm39) |
D43G |
possibly damaging |
Het |
| Serpina3f |
A |
G |
12: 104,183,267 (GRCm39) |
D43G |
probably damaging |
Het |
| Sftpc |
T |
C |
14: 70,758,887 (GRCm39) |
K154R |
probably null |
Het |
| Simc1 |
A |
G |
13: 54,672,530 (GRCm39) |
T293A |
probably benign |
Het |
| Skint6 |
A |
T |
4: 113,042,011 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
G |
1: 26,723,032 (GRCm39) |
H716P |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,707,376 (GRCm39) |
I78N |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,355,307 (GRCm39) |
|
probably null |
Het |
| Tent4b |
G |
A |
8: 88,977,371 (GRCm39) |
G391D |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,589,889 (GRCm39) |
|
probably benign |
Het |
| Tnfsf15 |
T |
C |
4: 63,648,229 (GRCm39) |
H137R |
possibly damaging |
Het |
| Tpte |
G |
A |
8: 22,817,755 (GRCm39) |
R247H |
possibly damaging |
Het |
| Trim2 |
T |
C |
3: 84,117,476 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,936,810 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
T |
G |
8: 107,640,018 (GRCm39) |
H442Q |
probably null |
Het |
| Vmn1r193 |
T |
A |
13: 22,403,798 (GRCm39) |
I65F |
probably damaging |
Het |
| Vps54 |
A |
T |
11: 21,256,962 (GRCm39) |
Q690L |
probably damaging |
Het |
| Ybx2 |
T |
C |
11: 69,831,145 (GRCm39) |
|
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,568,993 (GRCm39) |
G697D |
possibly damaging |
Het |
| Zfp202 |
C |
T |
9: 40,120,212 (GRCm39) |
Q218* |
probably null |
Het |
| Zfp820 |
G |
A |
17: 22,038,800 (GRCm39) |
T176I |
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 |
|
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 |
|
|
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'- CTGTCCAACGAAGACTCAGTGGAAG -3'
(R):5'- TCCAGGGACAAAGTTTGGGAATGTG -3'
Sequencing Primer
(F):5'- AGTGAACTAATTGTCGATGTTCAGG -3'
(R):5'- GGCCAATCTGTTCCTATGGAAAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation