Mutagenetix > Incidental Mutation

Incidental Mutation 'R6242:Slc6a4'

505313

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

044434-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R6242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76889429-76923166 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 76909184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 399 (K399*)

Ref Sequence

ENSEMBL: ENSMUSP00000104039 (fasta)

Gene Model

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

AlphaFold

Q60857

Predicted Effect

probably null
Transcript: ENSMUST00000021195
AA Change: K399*

SMART Domains

Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: K399*

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 null
Transcript: ENSMUST00000108402
AA Change: K399*

SMART Domains

Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: K399*

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

0.9754

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,501,896 (GRCm39)	C239*	probably null	Het
Akr1c6	A	G	13: 4,486,361 (GRCm39)	Q56R	probably benign	Het
Apaf1	T	A	10: 90,898,025 (GRCm39)	D244V	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,635,385 (GRCm39)	A898E	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atf6	T	A	1: 170,621,545 (GRCm39)	Q492L	possibly damaging	Het
Atrnl1	G	T	19: 57,630,910 (GRCm39)	V226F	probably benign	Het
Cfap68	C	T	9: 50,675,215 (GRCm39)	E148K	probably benign	Het
Cntnap1	A	T	11: 101,073,364 (GRCm39)	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,376,053 (GRCm39)	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,502,427 (GRCm39)	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,311,587 (GRCm39)	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha6	A	T	16: 59,503,025 (GRCm39)	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,188,695 (GRCm39)	E475G	probably damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fancm	A	T	12: 65,163,216 (GRCm39)	Q1460L	probably benign	Het
Fancm	C	A	12: 65,163,223 (GRCm39)	N1462K	probably benign	Het
Fgf14	T	C	14: 124,913,940 (GRCm39)	K64E	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Garem1	C	G	18: 21,262,229 (GRCm39)	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,812,013 (GRCm39)	G814R	probably damaging	Het
Hacd4	A	G	4: 88,332,524 (GRCm39)	S226P	probably benign	Het
Htt	A	G	5: 35,003,356 (GRCm39)	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,743,062 (GRCm39)	D107V	probably damaging	Het
Iqcc	T	C	4: 129,510,639 (GRCm39)	D292G	probably damaging	Het
Krtap13	C	T	16: 88,548,384 (GRCm39)	V35I	probably damaging	Het
Liat1	T	C	11: 75,890,981 (GRCm39)	S32P	probably damaging	Het
Lrrc59	G	T	11: 94,525,809 (GRCm39)	L132F	possibly damaging	Het
Mcub	T	C	3: 129,709,444 (GRCm39)	S290G	probably benign	Het
Mettl4	A	G	17: 95,042,802 (GRCm39)	W345R	probably damaging	Het
Msgn1	G	A	12: 11,258,526 (GRCm39)	R142W	probably damaging	Het
Myo5c	A	G	9: 75,180,893 (GRCm39)	I761V	probably benign	Het
Neb	T	A	2: 52,066,824 (GRCm39)	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,970,905 (GRCm39)	V226M	probably damaging	Het
Nt5el	T	A	13: 105,246,048 (GRCm39)	V203E	probably benign	Het
Or51a24	T	G	7: 103,733,771 (GRCm39)	H172P	possibly damaging	Het
Or5b106	T	A	19: 13,123,450 (GRCm39)	H191L	probably benign	Het
Parp4	T	A	14: 56,832,856 (GRCm39)	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,876,608 (GRCm39)	V439I	probably benign	Het
Pde1a	T	A	2: 79,959,136 (GRCm39)	T15S	probably benign	Het
Pgr	T	A	9: 8,900,980 (GRCm39)	I171N	probably benign	Het
Podxl	T	A	6: 31,503,180 (GRCm39)	D296V	probably benign	Het
Polr3e	A	T	7: 120,539,690 (GRCm39)	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,252,548 (GRCm39)	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,326,538 (GRCm39)	K5*	probably null	Het
Prph	A	G	15: 98,955,004 (GRCm39)	S325G	probably damaging	Het
Rabl2	C	A	15: 89,468,555 (GRCm39)	W49L	probably benign	Het
Rbbp8nl	T	A	2: 179,922,767 (GRCm39)	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn7a	T	C	2: 66,531,110 (GRCm39)	D589G	probably benign	Het
Sdr42e1	A	T	8: 118,389,936 (GRCm39)	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,082,260 (GRCm39)	M11T	probably benign	Het
Slco4c1	T	A	1: 96,767,008 (GRCm39)	T337S	probably damaging	Het
Spc25	A	T	2: 69,027,555 (GRCm39)	F112L	probably damaging	Het
Swt1	A	G	1: 151,283,365 (GRCm39)	S331P	probably benign	Het
Tab1	A	T	15: 80,039,971 (GRCm39)	K264*	probably null	Het
Tagln3	T	A	16: 45,544,701 (GRCm39)		probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbck	A	G	3: 132,400,189 (GRCm39)	D80G	probably benign	Het
Tcim	A	T	8: 24,928,911 (GRCm39)	M1K	probably null	Het
Thap2	A	G	10: 115,208,831 (GRCm39)	S37P	unknown	Het
Tjp2	A	T	19: 24,076,967 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,533,145 (GRCm39)	S2390L	probably damaging	Het
Trpm5	T	G	7: 142,626,919 (GRCm39)	I1101L	probably benign	Het
Ttc3	T	G	16: 94,243,554 (GRCm39)	M831R	probably benign	Het
Tulp3	A	G	6: 128,300,050 (GRCm39)	C459R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800 (GRCm39)	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,666,691 (GRCm39)	L549P	probably benign	Het
Usp10	G	T	8: 120,668,577 (GRCm39)	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,681,359 (GRCm39)	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Wif1	T	C	10: 120,870,366 (GRCm39)	I40T	possibly damaging	Het
Zmynd8	G	A	2: 165,740,867 (GRCm39)	R6C	possibly 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
R6344:Slc6a4	UTSW	11	76,909,080 (GRCm39)	missense	probably damaging	1.00
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'- GTTTTAATCCCACCCTGTATTGAATGC -3'

Sequencing Primer
(F):5'- TCAGCCTTCCAAGGGAACAGG -3'
(R):5'- ATCACCAAGGGAGTTCAC -3'

Posted On

2018-02-28