Mutagenetix > Incidental Mutation

Incidental Mutation 'R5569:Slc6a4'

435552

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

043126-MU

Accession Numbers

Essential gene?

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

Stock #

R5569 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76998603-77032340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77023255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 544 (I544F)

Ref Sequence

ENSEMBL: ENSMUSP00000104039 (fasta)

Gene Model

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

AlphaFold

Q60857

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021195
AA Change: I544F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: I544F

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

possibly damaging
Transcript: ENSMUST00000108402
AA Change: I544F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: I544F

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: 99.7%
10x: 98.3%
20x: 94.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,626,080	S929P	probably damaging	Het
Ackr3	A	G	1: 90,214,841	T341A	probably benign	Het
Acox3	A	G	5: 35,603,033	Y431C	probably damaging	Het
Adamtsl2	G	A	2: 27,102,833	V653M	probably damaging	Het
Anks6	T	C	4: 47,045,007	K300E	probably damaging	Het
Ap5z1	A	T	5: 142,474,451	D495V	probably damaging	Het
Atm	A	T	9: 53,516,450	Y453*	probably null	Het
Atpaf2	A	T	11: 60,416,880	W11R	probably damaging	Het
Capn1	T	A	19: 6,013,660	T129S	probably benign	Het
Cdh17	A	G	4: 11,816,990	I800M	probably damaging	Het
Cfap206	C	T	4: 34,724,892	R69Q	probably damaging	Het
Cp	T	C	3: 19,978,877	Y623H	probably damaging	Het
Dcaf5	A	T	12: 80,340,201	Y384N	probably damaging	Het
Dhx9	A	T	1: 153,467,092	C555S	possibly damaging	Het
Dlg2	A	G	7: 91,968,180	T317A	probably benign	Het
Dsp	C	T	13: 38,192,652	T1471I	probably benign	Het
Ebf1	A	G	11: 44,992,401	M489V	possibly damaging	Het
Enpp3	T	C	10: 24,778,821	D230G	probably damaging	Het
Eri3	T	C	4: 117,649,356	M294T	possibly damaging	Het
Fat1	T	A	8: 45,039,836	V3842E	probably damaging	Het
Fermt1	T	A	2: 132,915,203	Y569F	possibly damaging	Het
Fscn1	A	G	5: 142,961,044	D199G	probably benign	Het
Glce	A	G	9: 62,070,203	V133A	probably benign	Het
Gm10020	T	C	15: 52,478,228		noncoding transcript	Het
Gm16432	A	T	1: 178,111,596	K678N	possibly damaging	Het
Gm5096	A	C	18: 87,757,268	Y305S	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Hk1	A	G	10: 62,286,441	S520P	probably benign	Het
Ighv12-3	A	G	12: 114,366,935	V7A	probably benign	Het
Ighv6-7	C	A	12: 114,455,856	A43S	probably damaging	Het
Inf2	A	G	12: 112,601,679	I222V	possibly damaging	Het
Kmo	T	A	1: 175,655,122	N337K	probably benign	Het
Mcf2l	C	T	8: 13,005,481	R611W	probably damaging	Het
Mipep	A	T	14: 60,802,934	H301L	probably damaging	Het
Mprip	A	T	11: 59,760,963	E1831V	probably damaging	Het
Mrgpra3	T	C	7: 47,590,011	T56A	probably benign	Het
Mtmr14	G	A	6: 113,240,285	V53I	probably damaging	Het
Mycbp2	A	T	14: 103,135,243	W4056R	probably damaging	Het
Myl2	A	T	5: 122,106,720	D151V	possibly damaging	Het
Myo5c	A	T	9: 75,273,510	D727V	probably damaging	Het
Olfr381	A	T	11: 73,486,692	I44N	probably damaging	Het
Olfr466	A	G	13: 65,152,979	T252A	possibly damaging	Het
Olfr504	T	A	7: 108,565,565	M77L	probably benign	Het
Olfr693	A	T	7: 106,678,483	M1K	probably null	Het
Olfr982	A	G	9: 40,074,297	M1V	probably null	Het
Pabpc1l	C	T	2: 164,043,554	T409I	probably benign	Het
Pcgf1	C	T	6: 83,079,705	R81*	probably null	Het
Pcgf2	A	G	11: 97,692,367		probably null	Het
Phf14	T	A	6: 11,934,016	N292K	probably damaging	Het
Plin4	T	C	17: 56,102,147	T1358A	probably benign	Het
Pomgnt1	T	C	4: 116,155,967	S423P	probably damaging	Het
Pqlc3	T	A	12: 16,995,628	I114F	possibly damaging	Het
Prep	G	A	10: 45,097,437	V214I	probably benign	Het
Ptger1	T	C	8: 83,668,332		probably null	Het
Pus7	C	T	5: 23,748,834	G415D	probably benign	Het
Rbm44	C	T	1: 91,168,738	P940S	probably damaging	Het
Ripor1	A	T	8: 105,617,515	D427V	probably damaging	Het
Rp1	A	G	1: 4,345,237	I1884T	probably damaging	Het
Serinc2	T	C	4: 130,278,479	R7G	probably benign	Het
Serpina6	A	C	12: 103,654,460	F10C	possibly damaging	Het
Skint5	T	A	4: 113,688,706		probably null	Het
Spdye4b	T	C	5: 143,202,421	M223T	probably benign	Het
Tbc1d17	A	T	7: 44,848,331	V39D	probably damaging	Het
Thbs3	T	A	3: 89,219,463	Y295N	probably damaging	Het
Themis	G	A	10: 28,781,891	E152K	possibly damaging	Het
Tmem131	A	T	1: 36,799,338	I1502N	probably benign	Het
Tmem43	T	A	6: 91,477,354	M41K	probably benign	Het
Tmprss6	A	C	15: 78,440,303	W771G	probably damaging	Het
Trp53tg5	T	C	2: 164,471,336	T140A	probably benign	Het
Uchl1	A	G	5: 66,686,873	E206G	probably damaging	Het
Vash2	A	G	1: 190,960,291	V229A	possibly damaging	Het
Vmn1r192	C	A	13: 22,187,214	A279S	possibly damaging	Het
Vmn1r32	T	C	6: 66,553,172	R207G	probably damaging	Het
Vmn2r14	T	A	5: 109,220,395	M244L	probably benign	Het
Vwa5b2	T	A	16: 20,595,339	H236Q	probably damaging	Het
Zfp652	C	T	11: 95,749,290	P14S	probably benign	Het
Zfp668	G	A	7: 127,867,823	R194*	probably null	Het
Zgrf1	G	T	3: 127,561,025	V98L	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
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

Predicted Primers

PCR Primer
(F):5'- TTGTGATGCCCTGCCACTTG -3'
(R):5'- TAGCTCATTATTGTCTCTTGGCACG -3'

Sequencing Primer
(F):5'- AGAAGTGCCTAGGTGACCC -3'
(R):5'- ACGATTTTGTCCGCACAGCAG -3'

Posted On

2016-10-24