Incidental Mutation 'R6305:Slc6a15'
| ID |
509607 |
| 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 |
044411-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6305 (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 T
at 103225031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 40
(I40F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074204]
[ENSMUST00000179636]
[ENSMUST00000217905]
|
| AlphaFold |
Q8BG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074204
AA Change: I40F
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: I40F
| 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: I40F
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: I40F
| 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
AA Change: I40F
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219936
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
97% (61/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,741 (GRCm39) |
S977P |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| Adcy6 |
T |
A |
15: 98,496,526 (GRCm39) |
I550L |
probably benign |
Het |
| Agbl3 |
G |
A |
6: 34,759,145 (GRCm39) |
D19N |
unknown |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arhgap39 |
T |
A |
15: 76,621,902 (GRCm39) |
D233V |
probably benign |
Het |
| Bcl9 |
G |
A |
3: 97,113,254 (GRCm39) |
P1067L |
possibly damaging |
Het |
| Casd1 |
C |
T |
6: 4,641,892 (GRCm39) |
T723I |
probably damaging |
Het |
| Cd209g |
T |
A |
8: 4,186,809 (GRCm39) |
I118N |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,869,813 (GRCm39) |
D701E |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,757,174 (GRCm39) |
P1858S |
possibly damaging |
Het |
| Csnk1g3 |
T |
A |
18: 54,065,384 (GRCm39) |
Y322* |
probably null |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,069,668 (GRCm39) |
F909S |
probably damaging |
Het |
| Dll4 |
T |
A |
2: 119,161,138 (GRCm39) |
S299T |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg4 |
T |
A |
18: 20,582,847 (GRCm39) |
Y162N |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,517,780 (GRCm39) |
Y882C |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,883,630 (GRCm39) |
N520K |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,225,549 (GRCm39) |
A14T |
possibly damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,626 (GRCm39) |
R679Q |
probably damaging |
Het |
| Hnrnpdl |
T |
C |
5: 100,186,517 (GRCm39) |
|
probably benign |
Het |
| Il12a |
A |
T |
3: 68,601,511 (GRCm39) |
K77N |
possibly damaging |
Het |
| Il17rd |
C |
T |
14: 26,817,899 (GRCm39) |
S196L |
possibly damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,301,237 (GRCm39) |
F363L |
probably benign |
Het |
| Lair1 |
A |
G |
7: 4,013,727 (GRCm39) |
|
probably null |
Het |
| Lrit3 |
G |
A |
3: 129,594,109 (GRCm39) |
T156I |
probably damaging |
Het |
| Me2 |
T |
A |
18: 73,924,915 (GRCm39) |
R267S |
probably benign |
Het |
| Mga |
T |
C |
2: 119,778,179 (GRCm39) |
V1908A |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,077,048 (GRCm39) |
I463F |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,141,775 (GRCm39) |
R75* |
probably null |
Het |
| Niban1 |
T |
C |
1: 151,571,469 (GRCm39) |
L248P |
probably damaging |
Het |
| Or10a3b |
C |
T |
7: 108,444,761 (GRCm39) |
G152D |
possibly damaging |
Het |
| Or1j11 |
T |
A |
2: 36,311,634 (GRCm39) |
S75T |
probably damaging |
Het |
| Or5p50 |
T |
G |
7: 107,421,864 (GRCm39) |
T271P |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TG |
TGGTGTTGG |
9: 37,937,838 (GRCm39) |
|
probably null |
Het |
| Or8k33 |
A |
G |
2: 86,383,839 (GRCm39) |
S210P |
possibly damaging |
Het |
| Pfas |
A |
G |
11: 68,892,023 (GRCm39) |
S162P |
possibly damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,151,768 (GRCm39) |
V654E |
probably benign |
Het |
| Plxdc1 |
C |
A |
11: 97,829,416 (GRCm39) |
C318F |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,312 (GRCm39) |
D55G |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,427,348 (GRCm39) |
K419N |
probably damaging |
Het |
| Septin4 |
C |
T |
11: 87,458,145 (GRCm39) |
T173M |
probably benign |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc24a4 |
C |
A |
12: 102,188,360 (GRCm39) |
T151K |
possibly damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,930,028 (GRCm39) |
V172A |
possibly damaging |
Het |
| Thrap3 |
A |
G |
4: 126,074,600 (GRCm39) |
|
probably benign |
Het |
| Tm9sf3 |
A |
G |
19: 41,233,881 (GRCm39) |
|
probably null |
Het |
| Trp53 |
A |
T |
11: 69,479,533 (GRCm39) |
H211L |
probably damaging |
Het |
| Ttc21b |
A |
T |
2: 66,018,614 (GRCm39) |
N1264K |
probably damaging |
Het |
| Vmn1r120 |
A |
T |
7: 20,787,531 (GRCm39) |
V60E |
possibly damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,077,319 (GRCm39) |
E890G |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp934 |
T |
C |
13: 62,666,370 (GRCm39) |
Y102C |
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 |
|
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'- GGATCCATAATAGTTTCTCACCTTG -3'
(R):5'- CACCACCATTCTTTTGGCAGAG -3'
Sequencing Primer
(F):5'- TTTGCCTCAAGGGTGTCT -3'
(R):5'- CCACCATTCTTTTGGCAGAGGTATG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation