Incidental Mutation 'IGL02239:Slc6a4'
| ID |
286006 |
| 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 # |
IGL02239
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76889429-76923166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76917982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 575
(I575F)
|
| 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: I575F
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: I575F
| 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: I575F
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: I575F
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,369,386 (GRCm39) |
E262G |
possibly damaging |
Het |
| Adgra3 |
T |
A |
5: 50,118,054 (GRCm39) |
S1165C |
probably damaging |
Het |
| Akap11 |
A |
G |
14: 78,751,289 (GRCm39) |
L366P |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
| Bhmt2 |
C |
T |
13: 93,799,687 (GRCm39) |
G250R |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntnap2 |
A |
G |
6: 46,998,588 (GRCm39) |
D880G |
probably damaging |
Het |
| Erc1 |
A |
G |
6: 119,750,852 (GRCm39) |
V443A |
probably damaging |
Het |
| Fbxw15 |
A |
G |
9: 109,388,905 (GRCm39) |
I168T |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,779,416 (GRCm39) |
A504T |
probably damaging |
Het |
| Galm |
A |
G |
17: 80,452,467 (GRCm39) |
D135G |
probably damaging |
Het |
| Gstp3 |
C |
T |
19: 4,107,899 (GRCm39) |
V145I |
possibly damaging |
Het |
| Hspa5 |
T |
C |
2: 34,662,788 (GRCm39) |
F115L |
probably benign |
Het |
| Lig4 |
A |
C |
8: 10,022,473 (GRCm39) |
S436A |
probably damaging |
Het |
| Ncam1 |
A |
G |
9: 49,478,702 (GRCm39) |
V99A |
probably damaging |
Het |
| Nell1 |
T |
A |
7: 49,899,398 (GRCm39) |
I336N |
probably benign |
Het |
| Or52ad1 |
T |
C |
7: 102,995,805 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,254 (GRCm39) |
S217P |
probably damaging |
Het |
| Or8g20 |
T |
A |
9: 39,395,857 (GRCm39) |
I231F |
probably damaging |
Het |
| Patl1 |
A |
T |
19: 11,914,723 (GRCm39) |
K625* |
probably null |
Het |
| Qrsl1 |
G |
A |
10: 43,770,596 (GRCm39) |
P99S |
possibly damaging |
Het |
| Rfx8 |
T |
C |
1: 39,720,046 (GRCm39) |
D343G |
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,875,756 (GRCm39) |
F340S |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,979,418 (GRCm39) |
Y28F |
probably benign |
Het |
| Tbx5 |
T |
A |
5: 120,009,345 (GRCm39) |
S285T |
possibly damaging |
Het |
| Tmem229a |
A |
T |
6: 24,955,539 (GRCm39) |
S72T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,576,748 (GRCm39) |
D24715G |
probably damaging |
Het |
| Zfp784 |
T |
C |
7: 5,038,670 (GRCm39) |
|
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,769,107 (GRCm39) |
K85* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation