Incidental Mutation 'R9113:Slc6a15'
ID |
692371 |
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 |
068920-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9113 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
103203644-103255238 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103236140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 285
(M285T)
|
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: M285T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073829 Gene: ENSMUSG00000019894 AA Change: M285T
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: M285T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136676 Gene: ENSMUSG00000019894 AA Change: M285T
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 |
0.8662 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
100% (50/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
A |
6: 142,591,656 (GRCm39) |
I791F |
probably damaging |
Het |
Adamts15 |
A |
G |
9: 30,822,498 (GRCm39) |
M389T |
probably damaging |
Het |
Adgrb2 |
G |
A |
4: 129,910,877 (GRCm39) |
V1065M |
probably damaging |
Het |
Agbl1 |
C |
A |
7: 76,239,225 (GRCm39) |
A827E |
unknown |
Het |
Alox5ap |
T |
C |
5: 149,216,015 (GRCm39) |
F67S |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,614,072 (GRCm39) |
N2566S |
possibly damaging |
Het |
Arhgap10 |
T |
C |
8: 77,985,701 (GRCm39) |
D722G |
probably damaging |
Het |
Atp5mf |
A |
G |
5: 145,128,315 (GRCm39) |
L4P |
probably benign |
Het |
Bean1 |
T |
C |
8: 104,940,557 (GRCm39) |
V130A |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Cdhr2 |
A |
G |
13: 54,882,700 (GRCm39) |
D1222G |
probably benign |
Het |
Chrm4 |
T |
A |
2: 91,758,075 (GRCm39) |
V161E |
probably benign |
Het |
Ckap5 |
T |
C |
2: 91,426,144 (GRCm39) |
S1335P |
probably damaging |
Het |
Col11a1 |
T |
A |
3: 113,888,192 (GRCm39) |
Y267* |
probably null |
Het |
Col14a1 |
T |
C |
15: 55,201,825 (GRCm39) |
Y38H |
unknown |
Het |
Coro2a |
C |
T |
4: 46,563,047 (GRCm39) |
G36S |
|
Het |
Ctsc |
A |
T |
7: 87,959,104 (GRCm39) |
K461N |
possibly damaging |
Het |
Dcaf1 |
A |
G |
9: 106,712,831 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,880,713 (GRCm39) |
I2628T |
probably damaging |
Het |
Dnajb5 |
T |
C |
4: 42,953,233 (GRCm39) |
I20T |
probably damaging |
Het |
Dus2 |
C |
T |
8: 106,775,333 (GRCm39) |
Q287* |
probably null |
Het |
Fbxl17 |
A |
G |
17: 63,532,085 (GRCm39) |
V586A |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,887,452 (GRCm39) |
|
probably benign |
Het |
Gm4924 |
G |
A |
10: 82,214,113 (GRCm39) |
C637Y |
unknown |
Het |
Gorasp1 |
A |
G |
9: 119,757,442 (GRCm39) |
F310S |
probably damaging |
Het |
Gsta5 |
A |
T |
9: 78,212,667 (GRCm39) |
I213F |
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,883,328 (GRCm39) |
T2726I |
probably damaging |
Het |
Inppl1 |
G |
T |
7: 101,475,231 (GRCm39) |
P940Q |
probably benign |
Het |
Klk1b22 |
G |
A |
7: 43,765,692 (GRCm39) |
V183M |
possibly damaging |
Het |
Krt12 |
A |
G |
11: 99,309,378 (GRCm39) |
M294T |
probably damaging |
Het |
Krtap6-2 |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
16: 89,216,613 (GRCm39) |
|
probably benign |
Het |
Lep |
T |
C |
6: 29,071,093 (GRCm39) |
L139P |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,224,532 (GRCm39) |
D64G |
probably damaging |
Het |
Lyzl1 |
C |
T |
18: 4,168,604 (GRCm39) |
A28V |
probably null |
Het |
Mcam |
T |
C |
9: 44,051,693 (GRCm39) |
V483A |
probably benign |
Het |
Mia2 |
C |
T |
12: 59,217,053 (GRCm39) |
|
probably benign |
Het |
Mzf1 |
T |
A |
7: 12,778,279 (GRCm39) |
H454L |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,197,782 (GRCm39) |
T742A |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 71,861,493 (GRCm39) |
Y61C |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,618,741 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
G |
T |
18: 78,900,948 (GRCm39) |
H906Q |
probably damaging |
Het |
Slc12a4 |
A |
G |
8: 106,670,984 (GRCm39) |
V1032A |
probably benign |
Het |
Spata31h1 |
G |
A |
10: 82,131,352 (GRCm39) |
Q553* |
probably null |
Het |
Steap2 |
A |
G |
5: 5,727,475 (GRCm39) |
Y287H |
probably damaging |
Het |
Tas2r135 |
T |
G |
6: 42,383,315 (GRCm39) |
F285V |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,618,538 (GRCm39) |
T16249A |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,579,343 (GRCm39) |
T299A |
probably benign |
Het |
Vmn2r101 |
A |
G |
17: 19,811,288 (GRCm39) |
I457M |
possibly damaging |
Het |
Vps41 |
A |
G |
13: 19,023,883 (GRCm39) |
E437G |
probably benign |
Het |
Zfp638 |
A |
T |
6: 83,953,894 (GRCm39) |
E1333V |
probably damaging |
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 |
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 |
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'- AGTGACTTTAGGAGTTGTCACC -3'
(R):5'- ACGTAGATCAAAGTTTCCCCAG -3'
Sequencing Primer
(F):5'- GACTTTAGGAGTTGTCACCAATTG -3'
(R):5'- CAAAGTTTCCCCAGTTTATCAGTG -3'
|
Posted On |
2021-12-30 |