Incidental Mutation 'R8379:Slc6a15'
| ID |
646873 |
| 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 |
067810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8379 (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 103225048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 45
(E45D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074204]
[ENSMUST00000179636]
[ENSMUST00000217905]
|
| AlphaFold |
Q8BG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074204
AA Change: E45D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: E45D
| 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: E45D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: E45D
| 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: E45D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (61/62) |
| 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 |
|---|
| Aipl1 |
T |
C |
11: 71,920,126 (GRCm39) |
D314G |
probably benign |
Het |
| Ankrd12 |
T |
G |
17: 66,290,939 (GRCm39) |
E1498A |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,647,372 (GRCm39) |
|
probably null |
Het |
| Auh |
A |
G |
13: 53,063,349 (GRCm39) |
*116R |
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,691,417 (GRCm39) |
H402L |
probably benign |
Het |
| Ccr4 |
T |
C |
9: 114,321,235 (GRCm39) |
T277A |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,889,072 (GRCm39) |
V1302I |
probably benign |
Het |
| Csnk1a1 |
T |
C |
18: 61,688,925 (GRCm39) |
I35T |
probably benign |
Het |
| Csnk1e |
T |
C |
15: 79,304,882 (GRCm39) |
R374G |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,020 (GRCm39) |
R105G |
probably benign |
Het |
| Denr |
C |
A |
5: 124,065,124 (GRCm39) |
T159K |
possibly damaging |
Het |
| Dmp1 |
C |
A |
5: 104,359,571 (GRCm39) |
Y82* |
probably null |
Het |
| Dok3 |
A |
G |
13: 55,671,833 (GRCm39) |
V246A |
probably benign |
Het |
| Endov |
A |
C |
11: 119,382,723 (GRCm39) |
K57Q |
possibly damaging |
Het |
| Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
| Fbln1 |
G |
A |
15: 85,116,773 (GRCm39) |
C275Y |
probably damaging |
Het |
| Fhip1b |
T |
C |
7: 105,034,342 (GRCm39) |
N430D |
possibly damaging |
Het |
| Foxi1 |
A |
G |
11: 34,157,530 (GRCm39) |
I165T |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,642,275 (GRCm39) |
I649F |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,899,967 (GRCm39) |
S305P |
probably damaging |
Het |
| Grm1 |
G |
A |
10: 10,564,879 (GRCm39) |
T1143M |
possibly damaging |
Het |
| Ifi202b |
C |
A |
1: 173,802,298 (GRCm39) |
|
probably null |
Het |
| Klhl32 |
A |
T |
4: 24,629,194 (GRCm39) |
D491E |
probably damaging |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Krt13 |
A |
G |
11: 100,009,706 (GRCm39) |
L358P |
probably damaging |
Het |
| Limk2 |
G |
A |
11: 3,321,162 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,756,453 (GRCm39) |
D4720G |
probably null |
Het |
| Mkln1 |
T |
A |
6: 31,435,900 (GRCm39) |
Y286* |
probably null |
Het |
| Muc6 |
C |
A |
7: 141,230,579 (GRCm39) |
E1143* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,901,551 (GRCm39) |
I242M |
probably benign |
Het |
| Noc4l |
T |
G |
5: 110,798,828 (GRCm39) |
K241Q |
probably damaging |
Het |
| Nup88 |
C |
A |
11: 70,860,607 (GRCm39) |
L57F |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or51aa2 |
A |
G |
7: 103,188,183 (GRCm39) |
I86T |
possibly damaging |
Het |
| Orm1 |
A |
T |
4: 63,264,355 (GRCm39) |
D137V |
probably damaging |
Het |
| Osbpl2 |
T |
A |
2: 179,778,895 (GRCm39) |
D9E |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,942,986 (GRCm39) |
D124Y |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,943,354 (GRCm39) |
V208A |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,931,843 (GRCm39) |
D963G |
probably damaging |
Het |
| Prdx6 |
G |
T |
1: 161,078,660 (GRCm39) |
D9E |
probably benign |
Het |
| Prrc2b |
C |
A |
2: 32,104,666 (GRCm39) |
N1381K |
probably damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,565,598 (GRCm39) |
V222E |
possibly damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,433,508 (GRCm39) |
M422L |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Robo2 |
A |
T |
16: 73,730,588 (GRCm39) |
I1008N |
probably damaging |
Het |
| Sidt1 |
T |
A |
16: 44,106,755 (GRCm39) |
Y225F |
probably benign |
Het |
| Spata31d1a |
T |
G |
13: 59,850,668 (GRCm39) |
M487L |
probably benign |
Het |
| St6galnac1 |
C |
A |
11: 116,666,325 (GRCm39) |
|
probably benign |
Het |
| Tcp11l2 |
A |
G |
10: 84,449,469 (GRCm39) |
Y478C |
probably damaging |
Het |
| Tdrd12 |
G |
T |
7: 35,223,482 (GRCm39) |
C67* |
probably null |
Het |
| Tead2 |
G |
A |
7: 44,867,505 (GRCm39) |
G78D |
probably damaging |
Het |
| Tfpi2 |
A |
T |
6: 3,963,849 (GRCm39) |
N194K |
probably damaging |
Het |
| Timd2 |
A |
G |
11: 46,568,027 (GRCm39) |
|
probably null |
Het |
| Tmem270 |
T |
C |
5: 134,930,557 (GRCm39) |
T235A |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,774,157 (GRCm39) |
D224G |
|
Het |
| Tsga10 |
G |
T |
1: 37,840,959 (GRCm39) |
Q416K |
probably benign |
Het |
| Ulk1 |
C |
A |
5: 110,935,531 (GRCm39) |
L911F |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,584,491 (GRCm39) |
S567P |
probably benign |
Het |
| Vmn2r-ps158 |
C |
T |
7: 42,697,270 (GRCm39) |
P776S |
probably damaging |
Het |
| Zdhhc3 |
A |
C |
9: 122,918,143 (GRCm39) |
C129G |
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 |
|
|
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'- TGCCTCAAGGGTGTCTTTAAG -3'
(R):5'- CCCTAGCTTTGTAATGGAATTCAC -3'
Sequencing Primer
(F):5'- TCCTGTCCAACGAAGACT -3'
(R):5'- ATACAGGATTGCCCTTTACGGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation