Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:Slc6a4'

153502

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, Sert, Htt

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

76998603-77032340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77013288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 190 (S190P)

Ref Sequence

ENSEMBL: ENSMUSP00000104039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021195] [ENSMUST00000108402] [ENSMUST00000129572]

AlphaFold

Q60857

Predicted Effect

probably damaging
Transcript: ENSMUST00000021195
AA Change: S190P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: S190P

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: S190P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: S190P

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

SMART Domains

Protein: ENSMUSP00000115264
Gene: ENSMUSG00000020838

Domain	Start	End	E-Value	Type
Pfam:5HT_transporter	23	64	1e-30	PFAM
Pfam:SNF	79	158	1.8e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138817

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,835,799	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,081,139	I277N	probably damaging	Het
Ap1b1	C	T	11: 5,019,433	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335	V313L	probably damaging	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Car2	G	A	3: 14,895,628		probably null	Het
Cdh17	T	A	4: 11,771,262		probably benign	Het
Cep295	A	G	9: 15,323,559		probably null	Het
Cep97	T	C	16: 55,930,573	K27E	probably damaging	Het
Cops5	A	T	1: 10,027,249	N258K	probably damaging	Het
Dchs1	T	A	7: 105,755,302	T2678S	probably benign	Het
Dnah10	T	A	5: 124,755,786	F861Y	probably benign	Het
Dock10	T	C	1: 80,526,273	E1777G	probably damaging	Het
Dock5	G	A	14: 67,881,259	Q23*	probably null	Het
Ermp1	T	C	19: 29,615,836	K752R	probably benign	Het
Fam160a1	A	C	3: 85,688,447	I377S	probably damaging	Het
Gjd2	T	A	2: 114,011,106	I297L	probably benign	Het
Gm1123	T	C	9: 99,023,254	M68V	probably benign	Het
Gm28372	C	T	2: 130,406,898	R59W	probably damaging	Het
Gm9912	A	C	3: 149,185,438	F20V	unknown	Het
Gpat2	T	C	2: 127,430,896	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,055,665	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,696,420	D40V	probably damaging	Het
Jakmip3	A	T	7: 139,020,904	Q331L	probably damaging	Het
Kif5b	A	T	18: 6,211,019		probably benign	Het
Kif5b	A	G	18: 6,225,647	V179A	probably damaging	Het
Krt14	A	T	11: 100,204,416		probably benign	Het
L3mbtl3	A	G	10: 26,331,900	F307S	unknown	Het
Laptm4a	T	C	12: 8,934,687		probably benign	Het
Marveld3	T	C	8: 109,948,087	S366G	possibly damaging	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,592,331	N54S	probably benign	Het
Mras	T	C	9: 99,411,495	I31V	probably damaging	Het
Myh1	A	G	11: 67,219,906	D1518G	probably damaging	Het
Myoz2	A	T	3: 123,013,781	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,013,962	W273L	probably benign	Het
Nol9	C	T	4: 152,046,043		probably benign	Het
Nrxn2	T	C	19: 6,509,929	V1206A	probably damaging	Het
Olfr180	A	T	16: 58,915,928	F238I	probably damaging	Het
Olfr523	T	C	7: 140,176,534	I138T	probably benign	Het
Olfr694	T	C	7: 106,689,333	T133A	probably benign	Het
Olfr774	T	A	10: 129,239,072	F308I	probably benign	Het
Olfr971	T	A	9: 39,839,611	M59K	probably damaging	Het
Pappa	T	C	4: 65,205,158		probably null	Het
Pfkl	A	G	10: 78,000,731	S151P	probably damaging	Het
Pgbd5	C	T	8: 124,384,379	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,253,353	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,348,316	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,175,932	V386L	probably benign	Het
S1pr3	G	A	13: 51,419,512	R243Q	probably damaging	Het
Slc44a4	A	G	17: 34,921,243	D208G	probably benign	Het
Snapc5	A	T	9: 64,180,497		probably null	Het
Tbc1d14	C	A	5: 36,571,569	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,931,392		probably benign	Het
Tmem219	G	A	7: 126,897,138	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951	R51G	probably null	Het
Ugp2	T	C	11: 21,353,447	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,034,492	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,064,068	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,789	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,655	D679G	probably damaging	Het
Zhx3	T	C	2: 160,780,714	N511S	probably damaging	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
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
R6344:Slc6a4	UTSW	11	77018254	missense	probably damaging	1.00
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

Posted On

2014-02-04