Incidental Mutation 'R8055:Slc6a4'
| ID |
619332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a4
|
| Ensembl Gene |
ENSMUSG00000020838 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
| Synonyms |
5-HTT, Htt, Sert |
| MMRRC Submission |
067492-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R8055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76889429-76923166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76901424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 53
(T53K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021195]
[ENSMUST00000108402]
[ENSMUST00000129572]
|
| AlphaFold |
Q60857 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021195
AA Change: T53K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: T53K
| 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: T53K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: T53K
| 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
AA Change: T53K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000115264
Gene: ENSMUSG00000020838
AA Change: T53K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5HT_transporter
|
23 |
64 |
1e-30 |
PFAM |
|
Pfam:SNF
|
79 |
158 |
1.8e-46 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
C |
A |
3: 92,336,139 (GRCm39) |
G188W |
unknown |
Het |
| Ahcyl1 |
A |
T |
3: 107,576,047 (GRCm39) |
D353E |
probably benign |
Het |
| Alk |
G |
T |
17: 72,206,252 (GRCm39) |
P1033T |
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,556,565 (GRCm39) |
C20F |
probably benign |
Het |
| BC049715 |
A |
G |
6: 136,816,913 (GRCm39) |
N51S |
possibly damaging |
Het |
| Ccser1 |
G |
A |
6: 61,290,757 (GRCm39) |
V480M |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,244,905 (GRCm39) |
N1184D |
probably benign |
Het |
| Cers6 |
C |
T |
2: 68,777,625 (GRCm39) |
R111W |
probably damaging |
Het |
| Clybl |
T |
A |
14: 122,615,273 (GRCm39) |
D204E |
probably damaging |
Het |
| Cxcl13 |
T |
C |
5: 96,107,763 (GRCm39) |
V73A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,037,032 (GRCm39) |
N593S |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,069,168 (GRCm39) |
N47K |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,636,015 (GRCm39) |
T46A |
probably benign |
Het |
| Gm15217 |
T |
C |
14: 46,616,911 (GRCm39) |
|
probably benign |
Het |
| Gnb5 |
G |
T |
9: 75,250,826 (GRCm39) |
A317S |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,722 (GRCm39) |
V304A |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,633,424 (GRCm39) |
C209* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,732,378 (GRCm39) |
N2646K |
unknown |
Het |
| Krt14 |
C |
G |
11: 100,095,584 (GRCm39) |
V274L |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,612,186 (GRCm39) |
D1277V |
unknown |
Het |
| Myo9a |
A |
T |
9: 59,814,743 (GRCm39) |
E2226D |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,120,255 (GRCm39) |
V631A |
possibly damaging |
Het |
| Piezo2 |
G |
A |
18: 63,175,882 (GRCm39) |
S1833L |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,359 (GRCm39) |
V203A |
probably benign |
Het |
| Primpol |
T |
C |
8: 47,032,197 (GRCm39) |
D459G |
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,634,749 (GRCm39) |
R3631S |
probably benign |
Het |
| Rbbp8nl |
T |
C |
2: 179,920,001 (GRCm39) |
T558A |
probably benign |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,997,724 (GRCm39) |
R566Q |
probably damaging |
Het |
| Rhbdf2 |
A |
C |
11: 116,498,191 (GRCm39) |
S3A |
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,595,284 (GRCm39) |
I1319N |
probably benign |
Het |
| Sbno2 |
T |
A |
10: 79,905,265 (GRCm39) |
I206F |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,149,845 (GRCm39) |
V944A |
probably damaging |
Het |
| Scube1 |
C |
T |
15: 83,543,226 (GRCm39) |
|
probably null |
Het |
| Slc22a20 |
G |
A |
19: 6,021,439 (GRCm39) |
A521V |
probably benign |
Het |
| Snapc2 |
G |
A |
8: 4,304,322 (GRCm39) |
R75Q |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,884,351 (GRCm39) |
K662I |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,298,438 (GRCm39) |
S55P |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,173,753 (GRCm39) |
V1503D |
possibly damaging |
Het |
| Tfrc |
T |
A |
16: 32,437,474 (GRCm39) |
N277K |
probably benign |
Het |
| Tlx3 |
A |
T |
11: 33,151,283 (GRCm39) |
V291E |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,747,327 (GRCm39) |
H101Q |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,495,343 (GRCm39) |
D70E |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,803,924 (GRCm39) |
G1938C |
probably damaging |
Het |
| Tubg1 |
T |
C |
11: 101,014,828 (GRCm39) |
L190P |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,541 (GRCm39) |
S641C |
possibly damaging |
Het |
| Wnt8b |
A |
G |
19: 44,481,952 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAGCTAGTCAGGGTCCTTG -3'
(R):5'- GGCACTAACCTCCACCATTCTG -3'
Sequencing Primer
(F):5'- CTAGTCAGGGTCCTTGGCAGATG -3'
(R):5'- TTCTGGTAGCATATGTAGGGAAAAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation