Incidental Mutation 'R6443:Slc6a4'
| ID |
519101 |
| 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 |
044581-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R6443 (G1)
|
| Quality Score |
153.008 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76889429-76923166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76914027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 526
(K526E)
|
| 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: K526E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: K526E
| 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: K526E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: K526E
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.9%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,357 (GRCm39) |
L27P |
probably damaging |
Het |
| Actr6 |
T |
C |
10: 89,550,733 (GRCm39) |
N354D |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,970 (GRCm39) |
N214Y |
probably damaging |
Het |
| Bcar1 |
A |
T |
8: 112,441,970 (GRCm39) |
V290E |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 94,001,993 (GRCm39) |
Q45L |
probably benign |
Het |
| Ctss |
A |
C |
3: 95,454,114 (GRCm39) |
K221T |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,710,504 (GRCm39) |
N469I |
possibly damaging |
Het |
| Dnah12 |
C |
A |
14: 26,600,008 (GRCm39) |
Q3683K |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,990,859 (GRCm39) |
I3301V |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,358,711 (GRCm39) |
G298E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,439,238 (GRCm39) |
F455L |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,648,253 (GRCm39) |
A112D |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,061,884 (GRCm39) |
M468T |
probably benign |
Het |
| Gm5114 |
C |
A |
7: 39,057,141 (GRCm39) |
R826L |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,618,457 (GRCm39) |
V222I |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,548,663 (GRCm39) |
S576P |
probably benign |
Het |
| Lrrc1 |
A |
G |
9: 77,341,314 (GRCm39) |
F415L |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,437,358 (GRCm39) |
I1032K |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,600,442 (GRCm39) |
T75M |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,388,994 (GRCm39) |
V141I |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,918 (GRCm39) |
Q134L |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,979 (GRCm39) |
D52A |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,229,949 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,464,413 (GRCm39) |
S4G |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Ryr1 |
A |
T |
7: 28,776,503 (GRCm39) |
M2204K |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,278 (GRCm39) |
N3428S |
possibly damaging |
Het |
| Slc9a8 |
G |
A |
2: 167,276,741 (GRCm39) |
R78H |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,089,429 (GRCm39) |
D611G |
possibly damaging |
Het |
| Sstr2 |
G |
A |
11: 113,516,080 (GRCm39) |
|
probably null |
Het |
| Tcf7 |
G |
T |
11: 52,144,765 (GRCm39) |
T286N |
probably benign |
Het |
| Txndc5 |
A |
G |
13: 38,712,179 (GRCm39) |
M69T |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,341,074 (GRCm39) |
V358E |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,374 (GRCm39) |
I745K |
possibly damaging |
Het |
| Zfp354b |
A |
G |
11: 50,813,581 (GRCm39) |
I448T |
possibly damaging |
Het |
| Zfp523 |
A |
T |
17: 28,420,381 (GRCm39) |
T189S |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGCTCTGTGTAGAAAGAG -3'
(R):5'- TGTAGAGCTCTCTGGGATGC -3'
Sequencing Primer
(F):5'- AAATTTTGTGATGCCCTGCCAC -3'
(R):5'- ATGCGCACCTCTGGACAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation