Incidental Mutation 'R8719:Slc6a15'
ID |
670024 |
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 |
068614-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8719 (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 103240176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 300
(R300G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073829
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074204]
[ENSMUST00000179636]
|
AlphaFold |
Q8BG16 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074204
AA Change: R300G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000073829 Gene: ENSMUSG00000019894 AA Change: R300G
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 damaging
Transcript: ENSMUST00000179636
AA Change: R300G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000136676 Gene: ENSMUSG00000019894 AA Change: R300G
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
T |
C |
8: 46,966,700 (GRCm39) |
I224T |
probably benign |
Het |
Adamts20 |
C |
G |
15: 94,241,903 (GRCm39) |
A702P |
probably damaging |
Het |
Ahdc1 |
T |
A |
4: 132,791,533 (GRCm39) |
Y925N |
possibly damaging |
Het |
Anapc1 |
T |
C |
2: 128,483,369 (GRCm39) |
E1242G |
probably damaging |
Het |
Angptl2 |
A |
G |
2: 33,133,914 (GRCm39) |
N412S |
possibly damaging |
Het |
Aox3 |
T |
C |
1: 58,158,696 (GRCm39) |
V89A |
probably damaging |
Het |
Atxn1l |
A |
T |
8: 110,459,861 (GRCm39) |
S134T |
possibly damaging |
Het |
Brf1 |
C |
A |
12: 112,943,304 (GRCm39) |
|
probably benign |
Het |
Cab39l |
A |
T |
14: 59,734,314 (GRCm39) |
H11L |
probably benign |
Het |
Cabcoco1 |
A |
G |
10: 68,272,671 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
C |
A |
1: 54,302,668 (GRCm39) |
P96Q |
probably benign |
Het |
Chek2 |
T |
C |
5: 111,014,908 (GRCm39) |
V459A |
probably damaging |
Het |
Cntnap2 |
A |
T |
6: 45,978,161 (GRCm39) |
D272V |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,160,516 (GRCm39) |
S572P |
possibly damaging |
Het |
Cysltr2 |
T |
C |
14: 73,267,111 (GRCm39) |
T200A |
possibly damaging |
Het |
Dglucy |
T |
C |
12: 100,804,821 (GRCm39) |
L104P |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,960,289 (GRCm39) |
M2222K |
probably damaging |
Het |
Dync2h1 |
C |
A |
9: 7,041,641 (GRCm39) |
V3334F |
probably benign |
Het |
Ear2 |
A |
T |
14: 44,340,734 (GRCm39) |
T131S |
possibly damaging |
Het |
Eef1akmt2 |
A |
T |
7: 132,452,340 (GRCm39) |
V92D |
probably damaging |
Het |
Fam83c |
T |
A |
2: 155,671,128 (GRCm39) |
Q769L |
probably benign |
Het |
Fanca |
A |
T |
8: 124,014,867 (GRCm39) |
C812S |
probably benign |
Het |
Gm21663 |
T |
G |
5: 26,146,162 (GRCm39) |
R50S |
probably damaging |
Het |
Gm5591 |
T |
G |
7: 38,221,614 (GRCm39) |
S152R |
probably benign |
Het |
Gm6370 |
T |
G |
5: 146,430,626 (GRCm39) |
D270E |
probably damaging |
Het |
H2-T22 |
T |
C |
17: 36,352,835 (GRCm39) |
I91V |
probably benign |
Het |
Hdac5 |
T |
C |
11: 102,097,963 (GRCm39) |
M61V |
probably benign |
Het |
Hsd17b6 |
A |
G |
10: 127,829,492 (GRCm39) |
S237P |
possibly damaging |
Het |
Khk |
T |
A |
5: 31,088,374 (GRCm39) |
F294I |
possibly damaging |
Het |
Klc1 |
G |
A |
12: 111,772,509 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
T |
C |
1: 193,006,099 (GRCm39) |
W143R |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,264 (GRCm39) |
I171T |
probably damaging |
Het |
Meis1 |
A |
G |
11: 18,835,587 (GRCm39) |
S344P |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,281,119 (GRCm39) |
R125S |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,586,325 (GRCm39) |
E105G |
probably benign |
Het |
Nudt22 |
T |
C |
19: 6,972,638 (GRCm39) |
D150G |
possibly damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,895 (GRCm39) |
T7A |
probably damaging |
Het |
Or5an1 |
A |
G |
19: 12,260,792 (GRCm39) |
I127V |
probably benign |
Het |
Or5b109 |
A |
G |
19: 13,211,836 (GRCm39) |
Y74C |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,763,778 (GRCm39) |
R799* |
probably null |
Het |
Pelp1 |
T |
C |
11: 70,292,789 (GRCm39) |
N175S |
probably damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pik3r4 |
C |
A |
9: 105,559,394 (GRCm39) |
S1162R |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,341,255 (GRCm39) |
N36I |
unknown |
Het |
Pomk |
T |
A |
8: 26,473,503 (GRCm39) |
Y150F |
possibly damaging |
Het |
Rdh11 |
T |
A |
12: 79,229,574 (GRCm39) |
H233L |
probably benign |
Het |
Rln1 |
A |
T |
19: 29,309,281 (GRCm39) |
M166K |
probably benign |
Het |
Rnf40 |
T |
A |
7: 127,191,834 (GRCm39) |
L356Q |
probably damaging |
Het |
Sin3b |
G |
T |
8: 73,450,139 (GRCm39) |
G19W |
unknown |
Het |
Sncaip |
A |
T |
18: 53,027,910 (GRCm39) |
K433M |
probably damaging |
Het |
Tead2 |
A |
T |
7: 44,882,316 (GRCm39) |
|
probably benign |
Het |
Tespa1 |
A |
G |
10: 130,184,108 (GRCm39) |
D63G |
probably benign |
Het |
Tmem117 |
T |
C |
15: 94,992,248 (GRCm39) |
F303L |
probably damaging |
Het |
Tmem270 |
T |
G |
5: 134,930,650 (GRCm39) |
T204P |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,722,790 (GRCm39) |
V1320A |
probably damaging |
Het |
Ttc7b |
A |
G |
12: 100,267,812 (GRCm39) |
L843P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,543,041 (GRCm39) |
Y33315C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,607,146 (GRCm39) |
V17959A |
possibly damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,521,095 (GRCm39) |
V291A |
probably damaging |
Het |
Ywhag |
T |
A |
5: 135,939,998 (GRCm39) |
T199S |
probably benign |
Het |
Zfp810 |
T |
C |
9: 22,190,571 (GRCm39) |
T77A |
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 |
|
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 |
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'- CCTGTTGCATTCTTAGGTGC -3'
(R):5'- TTTACGATATTGGCTTTGAACCCC -3'
Sequencing Primer
(F):5'- TGCATTCTTAGGTGCTTTCCTAG -3'
(R):5'- ATTGGCTTTGAACCCCAGAACTG -3'
|
Posted On |
2021-04-30 |