Incidental Mutation 'IGL03221:Slc6a4'
| ID |
413641 |
| 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: 0.335)
|
| Stock # |
IGL03221
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76889429-76923166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76917931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 558
(M558V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021195]
[ENSMUST00000108402]
|
| AlphaFold |
Q60857 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021195
AA Change: M558V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: M558V
| 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 benign
Transcript: ENSMUST00000108402
AA Change: M558V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: M558V
| 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 |
noncoding transcript
Transcript: ENSMUST00000137819
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
C |
T |
6: 113,737,820 (GRCm39) |
|
probably benign |
Het |
| BC051665 |
T |
A |
13: 60,932,242 (GRCm39) |
K116* |
probably null |
Het |
| Birc6 |
A |
T |
17: 74,934,002 (GRCm39) |
T2538S |
probably benign |
Het |
| Btn2a2 |
A |
G |
13: 23,662,619 (GRCm39) |
S435P |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,706,014 (GRCm39) |
L841P |
probably damaging |
Het |
| Etv4 |
C |
T |
11: 101,664,988 (GRCm39) |
R155K |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,608,062 (GRCm39) |
M928K |
possibly damaging |
Het |
| Grin2c |
A |
G |
11: 115,144,870 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
T |
10: 119,822,299 (GRCm39) |
M342L |
probably benign |
Het |
| H60c |
T |
A |
10: 3,209,799 (GRCm39) |
K163* |
probably null |
Het |
| Hycc2 |
C |
A |
1: 58,579,345 (GRCm39) |
V231L |
probably benign |
Het |
| Lilrb4b |
A |
G |
10: 51,357,524 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,890,764 (GRCm39) |
V838A |
possibly damaging |
Het |
| Mypn |
C |
A |
10: 62,966,902 (GRCm39) |
D925Y |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,124,166 (GRCm39) |
D27G |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,781 (GRCm39) |
S89P |
possibly damaging |
Het |
| Or5b97 |
G |
T |
19: 12,878,905 (GRCm39) |
P80T |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,661 (GRCm39) |
V9E |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,718,133 (GRCm39) |
|
probably null |
Het |
| Pik3c3 |
G |
T |
18: 30,435,984 (GRCm39) |
M394I |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,526,088 (GRCm39) |
R1093C |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,126,973 (GRCm39) |
V458A |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,548,591 (GRCm39) |
V39A |
probably benign |
Het |
| Smpx |
T |
C |
X: 156,503,994 (GRCm39) |
V65A |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,869,922 (GRCm39) |
F116I |
possibly damaging |
Het |
| Tnfrsf19 |
A |
T |
14: 61,262,227 (GRCm39) |
V12E |
probably benign |
Het |
| Trpc1 |
C |
T |
9: 95,588,953 (GRCm39) |
R757H |
probably damaging |
Het |
| Ttc38 |
T |
A |
15: 85,718,742 (GRCm39) |
S51T |
probably benign |
Het |
| Wee1 |
G |
A |
7: 109,726,024 (GRCm39) |
C378Y |
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 |
|
IGL01759:Slc6a4
|
APN |
11 |
76,904,114 (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 |
|
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 |
2016-08-02 |
Incidental Mutation