Incidental Mutation 'R6344:Slc6a4'
| ID |
514066 |
| 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 |
044498-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R6344 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76889429-76923166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76909080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 364
(T364I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021195]
[ENSMUST00000108402]
|
| AlphaFold |
Q60857 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021195
AA Change: T364I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: T364I
| 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: T364I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: T364I
| 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
|
| Meta Mutation Damage Score |
0.4042 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,327,706 (GRCm39) |
P707L |
probably damaging |
Het |
| Bbip1 |
A |
G |
19: 53,919,912 (GRCm39) |
V23A |
probably benign |
Het |
| Bdnf |
A |
T |
2: 109,554,022 (GRCm39) |
Y132F |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,583,752 (GRCm39) |
D72G |
probably benign |
Het |
| Cdcp1 |
T |
A |
9: 123,011,447 (GRCm39) |
K343N |
possibly damaging |
Het |
| Cep112 |
A |
T |
11: 108,410,000 (GRCm39) |
Y472F |
probably damaging |
Het |
| Cops2 |
A |
T |
2: 125,700,899 (GRCm39) |
|
probably benign |
Het |
| Cyp27a1 |
T |
C |
1: 74,776,008 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,436,349 (GRCm39) |
I3998V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnhd1 |
A |
G |
7: 105,343,817 (GRCm39) |
I1720M |
probably benign |
Het |
| Fkbpl |
A |
G |
17: 34,864,544 (GRCm39) |
K104R |
probably damaging |
Het |
| Helq |
G |
T |
5: 100,914,594 (GRCm39) |
A966E |
probably benign |
Het |
| Iba57 |
G |
A |
11: 59,049,119 (GRCm39) |
P350L |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 87,989,401 (GRCm39) |
|
probably null |
Het |
| Kcnj9 |
A |
G |
1: 172,153,713 (GRCm39) |
V137A |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,672,777 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,733,156 (GRCm39) |
|
probably benign |
Het |
| Lilra5 |
T |
A |
7: 4,241,785 (GRCm39) |
F195I |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,414,033 (GRCm39) |
I349T |
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,696,300 (GRCm39) |
L143P |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,248,985 (GRCm39) |
F174L |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,416,708 (GRCm39) |
L3218Q |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,776 (GRCm39) |
S275G |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,067,791 (GRCm39) |
V615D |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,780,558 (GRCm39) |
L485P |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,378,534 (GRCm39) |
Y1646H |
probably damaging |
Het |
| Nsf |
A |
T |
11: 103,752,730 (GRCm39) |
V539D |
probably damaging |
Het |
| Nutm1 |
A |
T |
2: 112,079,247 (GRCm39) |
N889K |
possibly damaging |
Het |
| Or2n1b |
C |
T |
17: 38,459,611 (GRCm39) |
A44V |
probably benign |
Het |
| Or55b3 |
A |
G |
7: 102,126,738 (GRCm39) |
L113P |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,803,815 (GRCm39) |
V553E |
probably benign |
Het |
| Pkmyt1 |
T |
C |
17: 23,951,730 (GRCm39) |
S95P |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,319,708 (GRCm39) |
|
probably null |
Het |
| Saxo2 |
T |
A |
7: 82,284,073 (GRCm39) |
I262F |
probably damaging |
Het |
| Sco1 |
C |
T |
11: 66,946,571 (GRCm39) |
R115W |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,961 (GRCm39) |
Y330* |
probably null |
Het |
| Slit2 |
A |
G |
5: 48,377,023 (GRCm39) |
I388V |
probably benign |
Het |
| Smc6 |
C |
A |
12: 11,347,107 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
C |
T |
8: 46,488,675 (GRCm39) |
W747* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,534,801 (GRCm39) |
M3686K |
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,972,212 (GRCm39) |
D8732G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,574,105 (GRCm39) |
S36P |
possibly damaging |
Het |
| Trpv6 |
T |
C |
6: 41,602,356 (GRCm39) |
|
probably null |
Het |
| Tspear |
T |
C |
10: 77,710,847 (GRCm39) |
F490L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,552,196 (GRCm39) |
I31147T |
probably damaging |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,317 (GRCm39) |
E155D |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Washc2 |
G |
T |
6: 116,235,719 (GRCm39) |
Q977H |
probably benign |
Het |
| Yars2 |
T |
A |
16: 16,120,899 (GRCm39) |
W18R |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGGGGTGTCAGACTTTC -3'
(R):5'- ACCAAGGGAGTTCACTTTCAAATC -3'
Sequencing Primer
(F):5'- GGGGTGTCAGACTTTCCCCTC -3'
(R):5'- CTTTGAAAACGTGAAAGAACAGTTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation