Incidental Mutation 'IGL01759:Slc6a4'
| ID |
153502 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc6a4
|
| Ensembl Gene |
ENSMUSG00000020838 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
| Synonyms |
5-HTT, Htt, Sert |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
IGL01759
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76889429-76923166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76904114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 190
(S190P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021195]
[ENSMUST00000108402]
[ENSMUST00000129572]
|
| AlphaFold |
Q60857 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021195
AA Change: S190P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: S190P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5HT_transport_N
|
24 |
64 |
3e-27 |
PFAM |
|
Pfam:SNF
|
79 |
600 |
7.3e-232 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108402
AA Change: S190P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: S190P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5HT_transporter
|
23 |
64 |
7.8e-30 |
PFAM |
|
Pfam:SNF
|
79 |
600 |
7.3e-232 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129572
|
| SMART Domains |
Protein: ENSMUSP00000115264
Gene: ENSMUSG00000020838
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5HT_transporter
|
23 |
64 |
1e-30 |
PFAM |
|
Pfam:SNF
|
79 |
158 |
1.8e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138817
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit greatly diminished brain serotonin levels and lack cortical barrel patterns. Also, mutants lack the locomotor enhancing response to the drug (+)-3,4-methylenedioxymethamphetamine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
A |
T |
11: 95,726,625 (GRCm39) |
D150E |
probably damaging |
Het |
| Akr1c14 |
T |
A |
13: 4,131,139 (GRCm39) |
I277N |
probably damaging |
Het |
| Ap1b1 |
C |
T |
11: 4,969,433 (GRCm39) |
T263I |
probably damaging |
Het |
| Atp6v0d2 |
C |
A |
4: 19,878,335 (GRCm39) |
V313L |
probably damaging |
Het |
| Car2 |
G |
A |
3: 14,960,688 (GRCm39) |
|
probably null |
Het |
| Cdh17 |
T |
A |
4: 11,771,262 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,234,855 (GRCm39) |
|
probably null |
Het |
| Cep97 |
T |
C |
16: 55,750,936 (GRCm39) |
K27E |
probably damaging |
Het |
| Cops5 |
A |
T |
1: 10,097,474 (GRCm39) |
N258K |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,404,509 (GRCm39) |
T2678S |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,832,850 (GRCm39) |
F861Y |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,503,990 (GRCm39) |
E1777G |
probably damaging |
Het |
| Dock5 |
G |
A |
14: 68,118,708 (GRCm39) |
Q23* |
probably null |
Het |
| Ermp1 |
T |
C |
19: 29,593,236 (GRCm39) |
K752R |
probably benign |
Het |
| Fhip1a |
A |
C |
3: 85,595,754 (GRCm39) |
I377S |
probably damaging |
Het |
| Gjd2 |
T |
A |
2: 113,841,587 (GRCm39) |
I297L |
probably benign |
Het |
| Gm1123 |
T |
C |
9: 98,905,307 (GRCm39) |
M68V |
probably benign |
Het |
| Gm28372 |
C |
T |
2: 130,248,818 (GRCm39) |
R59W |
probably damaging |
Het |
| Gm9912 |
A |
C |
3: 148,891,074 (GRCm39) |
F20V |
unknown |
Het |
| Gpat2 |
T |
C |
2: 127,272,816 (GRCm39) |
F176S |
possibly damaging |
Het |
| Gpr150 |
T |
C |
13: 76,203,784 (GRCm39) |
H387R |
possibly damaging |
Het |
| Gpr20 |
T |
A |
15: 73,568,269 (GRCm39) |
D40V |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Jakmip3 |
A |
T |
7: 138,622,633 (GRCm39) |
Q331L |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,225,647 (GRCm39) |
V179A |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,211,019 (GRCm39) |
|
probably benign |
Het |
| Krt14 |
A |
T |
11: 100,095,242 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,798 (GRCm39) |
F307S |
unknown |
Het |
| Laptm4a |
T |
C |
12: 8,984,687 (GRCm39) |
|
probably benign |
Het |
| Marveld3 |
T |
C |
8: 110,674,719 (GRCm39) |
S366G |
possibly damaging |
Het |
| Mga |
C |
A |
2: 119,781,676 (GRCm39) |
T2234K |
possibly damaging |
Het |
| Mkrn2os |
T |
C |
6: 115,569,292 (GRCm39) |
N54S |
probably benign |
Het |
| Mras |
T |
C |
9: 99,293,548 (GRCm39) |
I31V |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,110,732 (GRCm39) |
D1518G |
probably damaging |
Het |
| Myoz2 |
A |
T |
3: 122,807,430 (GRCm39) |
Y127N |
possibly damaging |
Het |
| Nhlrc1 |
C |
A |
13: 47,167,438 (GRCm39) |
W273L |
probably benign |
Het |
| Nol9 |
C |
T |
4: 152,130,500 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,559,959 (GRCm39) |
V1206A |
probably damaging |
Het |
| Or2ag1b |
T |
C |
7: 106,288,540 (GRCm39) |
T133A |
probably benign |
Het |
| Or5k16 |
A |
T |
16: 58,736,291 (GRCm39) |
F238I |
probably damaging |
Het |
| Or6c5 |
T |
A |
10: 129,074,941 (GRCm39) |
F308I |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,447 (GRCm39) |
I138T |
probably benign |
Het |
| Or8g2b |
T |
A |
9: 39,750,907 (GRCm39) |
M59K |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,123,395 (GRCm39) |
|
probably null |
Het |
| Pfkl |
A |
G |
10: 77,836,565 (GRCm39) |
S151P |
probably damaging |
Het |
| Pgbd5 |
C |
T |
8: 125,111,118 (GRCm39) |
G191D |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,512 (GRCm39) |
V1276A |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,082,241 (GRCm39) |
Y486N |
probably damaging |
Het |
| Rasal2 |
C |
A |
1: 157,003,502 (GRCm39) |
V386L |
probably benign |
Het |
| S1pr3 |
G |
A |
13: 51,573,548 (GRCm39) |
R243Q |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,140,219 (GRCm39) |
D208G |
probably benign |
Het |
| Snapc5 |
A |
T |
9: 64,087,779 (GRCm39) |
|
probably null |
Het |
| Tbc1d14 |
C |
A |
5: 36,728,913 (GRCm39) |
R151L |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,897,826 (GRCm39) |
|
probably benign |
Het |
| Tmem219 |
G |
A |
7: 126,496,310 (GRCm39) |
P44L |
probably damaging |
Het |
| Ube2e1 |
T |
C |
14: 18,330,951 (GRCm38) |
R51G |
probably null |
Het |
| Ugp2 |
T |
C |
11: 21,303,447 (GRCm39) |
K53E |
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,218,662 (GRCm39) |
I52T |
probably benign |
Het |
| Vmn2r124 |
C |
T |
17: 18,284,330 (GRCm39) |
T457I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,878,935 (GRCm39) |
E2978G |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,741 (GRCm39) |
D679G |
probably damaging |
Het |
| Zhx3 |
T |
C |
2: 160,622,634 (GRCm39) |
N511S |
probably damaging |
Het |
|
| Other mutations in Slc6a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Slc6a4
|
APN |
11 |
76,914,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01403:Slc6a4
|
APN |
11 |
76,922,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01608:Slc6a4
|
APN |
11 |
76,917,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02239:Slc6a4
|
APN |
11 |
76,917,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02491:Slc6a4
|
APN |
11 |
76,918,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03221:Slc6a4
|
APN |
11 |
76,917,931 (GRCm39) |
missense |
probably benign |
|
|
R1122:Slc6a4
|
UTSW |
11 |
76,918,012 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1574:Slc6a4
|
UTSW |
11 |
76,910,022 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1574:Slc6a4
|
UTSW |
11 |
76,910,022 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1768:Slc6a4
|
UTSW |
11 |
76,904,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Slc6a4
|
UTSW |
11 |
76,905,990 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1884:Slc6a4
|
UTSW |
11 |
76,904,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4362:Slc6a4
|
UTSW |
11 |
76,907,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Slc6a4
|
UTSW |
11 |
76,910,689 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4855:Slc6a4
|
UTSW |
11 |
76,904,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Slc6a4
|
UTSW |
11 |
76,914,081 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5747:Slc6a4
|
UTSW |
11 |
76,901,337 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5802:Slc6a4
|
UTSW |
11 |
76,910,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Slc6a4
|
UTSW |
11 |
76,909,184 (GRCm39) |
nonsense |
probably null |
|
|
R6344:Slc6a4
|
UTSW |
11 |
76,909,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6443:Slc6a4
|
UTSW |
11 |
76,914,027 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6935:Slc6a4
|
UTSW |
11 |
76,917,994 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7283:Slc6a4
|
UTSW |
11 |
76,901,522 (GRCm39) |
missense |
probably benign |
|
|
R7313:Slc6a4
|
UTSW |
11 |
76,901,527 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7347:Slc6a4
|
UTSW |
11 |
76,907,911 (GRCm39) |
nonsense |
probably null |
|
|
R7535:Slc6a4
|
UTSW |
11 |
76,905,976 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7826:Slc6a4
|
UTSW |
11 |
76,903,851 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8055:Slc6a4
|
UTSW |
11 |
76,901,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9296:Slc6a4
|
UTSW |
11 |
76,909,110 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9325:Slc6a4
|
UTSW |
11 |
76,909,999 (GRCm39) |
missense |
probably benign |
0.13 |
|
RF007:Slc6a4
|
UTSW |
11 |
76,910,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc6a4
|
UTSW |
11 |
76,907,509 (GRCm39) |
frame shift |
probably null |
|
|
Z1186:Slc6a4
|
UTSW |
11 |
76,903,858 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Slc6a4
|
UTSW |
11 |
76,901,382 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Slc6a4
|
UTSW |
11 |
76,903,858 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Slc6a4
|
UTSW |
11 |
76,901,382 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Slc6a4
|
UTSW |
11 |
76,903,858 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Slc6a4
|
UTSW |
11 |
76,901,382 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Slc6a4
|
UTSW |
11 |
76,903,858 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Slc6a4
|
UTSW |
11 |
76,901,382 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Slc6a4
|
UTSW |
11 |
76,903,858 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Slc6a4
|
UTSW |
11 |
76,901,382 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Slc6a4
|
UTSW |
11 |
76,903,858 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Slc6a4
|
UTSW |
11 |
76,901,382 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation