Mutagenetix > Incidental Mutation

Incidental Mutation 'R6344:Slc6a4'

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, Sert, Htt

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.417) question?

Stock #

R6344 (G1)

Quality Score

200.009

Status

Not validated

Chromosome

Chromosomal Location

76998603-77032340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77018254 bp (GRCm38)

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: 25,437,694	P707L	probably damaging	Het
Bbip1	A	G	19: 53,931,481	V23A	probably benign	Het
Bdnf	A	T	2: 109,723,677	Y132F	probably benign	Het
C4bp	T	C	1: 130,656,015	D72G	probably benign	Het
Cdcp1	T	A	9: 123,182,382	K343N	possibly damaging	Het
Cep112	A	T	11: 108,519,174	Y472F	probably damaging	Het
Cops2	A	T	2: 125,858,979		probably benign	Het
Cyp27a1	T	C	1: 74,736,849		probably null	Het
Dnah7a	T	C	1: 53,397,190	I3998V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dnhd1	A	G	7: 105,694,610	I1720M	probably benign	Het
Fkbpl	A	G	17: 34,645,570	K104R	probably damaging	Het
Helq	G	T	5: 100,766,728	A966E	probably benign	Het
Iba57	G	A	11: 59,158,293	P350L	probably damaging	Het
Iqgap3	T	C	3: 88,082,094		probably null	Het
Kcnj9	A	G	1: 172,326,146	V137A	probably benign	Het
Kif19a	G	A	11: 114,781,951		probably null	Het
Kmt2a	A	T	9: 44,821,859		probably benign	Het
Lilra5	T	A	7: 4,238,786	F195I	probably damaging	Het
Mcm9	A	G	10: 53,537,937	I349T	probably benign	Het
Mlst8	A	G	17: 24,477,326	L143P	probably damaging	Het
Mrc1	T	C	2: 14,244,174	F174L	probably damaging	Het
Muc5b	T	A	7: 141,862,971	L3218Q	possibly damaging	Het
Myo1h	A	G	5: 114,328,715	S275G	probably damaging	Het
Myo5a	T	A	9: 75,160,509	V615D	probably benign	Het
Myo9b	T	C	8: 71,327,914	L485P	probably damaging	Het
Nav1	A	G	1: 135,450,796	Y1646H	probably damaging	Het
Nsf	A	T	11: 103,861,904	V539D	probably damaging	Het
Nutm1	A	T	2: 112,248,902	N889K	possibly damaging	Het
Olfr133	C	T	17: 38,148,720	A44V	probably benign	Het
Olfr543	A	G	7: 102,477,531	L113P	probably damaging	Het
Pcdhga2	T	A	18: 37,670,762	V553E	probably benign	Het
Pkmyt1	T	C	17: 23,732,756	S95P	possibly damaging	Het
Ranbp2	T	A	10: 58,483,886		probably null	Het
Saxo2	T	A	7: 82,634,865	I262F	probably damaging	Het
Sco1	C	T	11: 67,055,745	R115W	probably damaging	Het
Slc27a3	G	T	3: 90,387,654	Y330*	probably null	Het
Slit2	A	G	5: 48,219,681	I388V	probably benign	Het
Smc6	C	A	12: 11,297,106		probably benign	Het
Snx25	C	T	8: 46,035,638	W747*	probably null	Het
Stard9	T	A	2: 120,704,320	M3686K	probably benign	Het
Syne1	T	C	10: 5,022,212	D8732G	probably benign	Het
Tcaf3	A	G	6: 42,597,171	S36P	possibly damaging	Het
Trpv6	T	C	6: 41,625,422		probably null	Het
Tspear	T	C	10: 77,875,013	F490L	possibly damaging	Het
Ttn	A	G	2: 76,721,852	I31147T	probably damaging	Het
Ugt3a1	A	C	15: 9,306,231	E155D	probably damaging	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Washc2	G	T	6: 116,258,758	Q977H	probably benign	Het
Yars2	T	A	16: 16,303,035	W18R	probably benign	Het

Other mutations in Slc6a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Slc6a4	APN	11	77023180	missense	probably benign	0.00
IGL01403:Slc6a4	APN	11	77031672	missense	probably benign	0.00
IGL01608:Slc6a4	APN	11	77027135	missense	probably damaging	1.00
IGL01759:Slc6a4	APN	11	77013288	missense	probably damaging	1.00
IGL02239:Slc6a4	APN	11	77027156	missense	probably benign	0.01
IGL02491:Slc6a4	APN	11	77027208	missense	probably damaging	1.00
IGL03221:Slc6a4	APN	11	77027105	missense	probably benign
R1122:Slc6a4	UTSW	11	77027186	missense	possibly damaging	0.90
R1574:Slc6a4	UTSW	11	77019196	missense	possibly damaging	0.93
R1574:Slc6a4	UTSW	11	77019196	missense	possibly damaging	0.93
R1768:Slc6a4	UTSW	11	77013252	missense	probably damaging	1.00
R1876:Slc6a4	UTSW	11	77015164	missense	probably benign	0.34
R1884:Slc6a4	UTSW	11	77013375	missense	probably benign	0.01
R4362:Slc6a4	UTSW	11	77017078	missense	probably damaging	1.00
R4595:Slc6a4	UTSW	11	77019863	missense	probably benign	0.16
R4855:Slc6a4	UTSW	11	77013309	missense	probably damaging	1.00
R5569:Slc6a4	UTSW	11	77023255	missense	possibly damaging	0.88
R5747:Slc6a4	UTSW	11	77010511	missense	probably damaging	0.97
R5802:Slc6a4	UTSW	11	77019236	missense	probably damaging	1.00
R6242:Slc6a4	UTSW	11	77018358	nonsense	probably null
R6443:Slc6a4	UTSW	11	77023201	missense	probably benign	0.05
R6935:Slc6a4	UTSW	11	77027168	missense	probably benign	0.06
R7283:Slc6a4	UTSW	11	77010696	missense	probably benign
R7313:Slc6a4	UTSW	11	77010701	missense	possibly damaging	0.75
R7347:Slc6a4	UTSW	11	77017085	nonsense	probably null
R7535:Slc6a4	UTSW	11	77015150	missense	possibly damaging	0.70
R7826:Slc6a4	UTSW	11	77013025	missense	probably benign	0.27
R8055:Slc6a4	UTSW	11	77010598	missense	probably benign	0.00
R9296:Slc6a4	UTSW	11	77018284	missense	probably benign	0.19
R9325:Slc6a4	UTSW	11	77019173	missense	probably benign	0.13
RF007:Slc6a4	UTSW	11	77019182	missense	probably damaging	1.00
Z1177:Slc6a4	UTSW	11	77016683	frame shift	probably null
Z1186:Slc6a4	UTSW	11	77010556	missense	probably benign
Z1186:Slc6a4	UTSW	11	77013032	missense	probably benign
Z1187:Slc6a4	UTSW	11	77010556	missense	probably benign
Z1187:Slc6a4	UTSW	11	77013032	missense	probably benign
Z1188:Slc6a4	UTSW	11	77010556	missense	probably benign
Z1188:Slc6a4	UTSW	11	77013032	missense	probably benign
Z1189:Slc6a4	UTSW	11	77010556	missense	probably benign
Z1189:Slc6a4	UTSW	11	77013032	missense	probably benign
Z1190:Slc6a4	UTSW	11	77010556	missense	probably benign
Z1190:Slc6a4	UTSW	11	77013032	missense	probably benign
Z1192:Slc6a4	UTSW	11	77010556	missense	probably benign
Z1192:Slc6a4	UTSW	11	77013032	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