Mutagenetix > Incidental Mutation

Incidental Mutation 'R1884:Slc6a4'

209369

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

039905-MU

Accession Numbers

Essential gene?

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

Stock #

R1884 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76889429-76923166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76904201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 219 (T219A)

Ref Sequence

ENSEMBL: ENSMUSP00000104039 (fasta)

Gene Model

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

AlphaFold

Q60857

Predicted Effect

probably benign
Transcript: ENSMUST00000021195
AA Change: T219A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: T219A

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 benign
Transcript: ENSMUST00000108402
AA Change: T219A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: T219A

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

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

99% (94/95)

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
Acad11	T	C	9: 103,991,684 (GRCm39)	M573T	probably benign	Het
Ank3	A	G	10: 69,851,422 (GRCm39)	T1162A	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arpp21	T	A	9: 111,972,595 (GRCm39)	D232V	probably damaging	Het
Atg2a	T	C	19: 6,304,414 (GRCm39)	Y1144H	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Cenpf	C	T	1: 189,379,046 (GRCm39)	V2915I	probably benign	Het
Cep170	G	T	1: 176,602,245 (GRCm39)	T287K	probably benign	Het
Chst2	G	A	9: 95,287,611 (GRCm39)	T245I	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Coro7	G	T	16: 4,446,683 (GRCm39)		probably benign	Het
Cpne8	C	A	15: 90,532,831 (GRCm39)		probably benign	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx31	T	A	2: 28,749,002 (GRCm39)	I266N	probably damaging	Het
Dnah7a	A	T	1: 53,580,159 (GRCm39)	I1592N	probably damaging	Het
Dok6	A	T	18: 89,492,130 (GRCm39)	L149Q	probably damaging	Het
Eri2	G	A	7: 119,390,346 (GRCm39)	T94I	probably benign	Het
Ermp1	A	G	19: 29,594,079 (GRCm39)	V697A	probably benign	Het
Foxc1	C	T	13: 31,991,648 (GRCm39)	T153M	probably damaging	Het
Fry	A	G	5: 150,326,985 (GRCm39)	I1224V	probably benign	Het
Fzd5	G	A	1: 64,774,813 (GRCm39)	T316M	probably damaging	Het
Gcm1	G	T	9: 77,966,861 (GRCm39)	V27L	probably benign	Het
Gm5773	A	T	3: 93,681,348 (GRCm39)	D340V	probably benign	Het
Gucy2d	T	A	7: 98,100,815 (GRCm39)	H379Q	probably benign	Het
Hectd1	T	A	12: 51,847,738 (GRCm39)	M392L	probably benign	Het
Itpr2	A	C	6: 146,287,469 (GRCm39)	D452E	probably benign	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lrit1	T	C	14: 36,783,710 (GRCm39)	V346A	possibly damaging	Het
Lrrk1	A	G	7: 65,912,185 (GRCm39)	S1792P	probably benign	Het
Marveld2	A	T	13: 100,737,129 (GRCm39)	V168E	probably benign	Het
Ms4a4b	T	A	19: 11,438,629 (GRCm39)	D149E	probably damaging	Het
Myom2	G	A	8: 15,164,278 (GRCm39)	D1058N	probably benign	Het
Ncam2	C	T	16: 81,234,571 (GRCm39)	P142L	probably damaging	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nol10	T	C	12: 17,418,390 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,591,538 (GRCm39)	V194A	probably damaging	Het
Nudt6	A	G	3: 37,466,549 (GRCm39)	V82A	probably benign	Het
Odf2l	A	T	3: 144,856,809 (GRCm39)	N492I	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Pkn3	T	C	2: 29,972,840 (GRCm39)	V276A	probably damaging	Het
Prl3b1	T	G	13: 27,431,886 (GRCm39)	L137R	possibly damaging	Het
Rab11fip2	A	G	19: 59,925,762 (GRCm39)	F10L	probably damaging	Het
Rab3b	T	A	4: 108,786,649 (GRCm39)	V133E	probably damaging	Het
Rnf111	A	T	9: 70,383,520 (GRCm39)	S138T	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Runx1t1	A	G	4: 13,835,767 (GRCm39)	T75A	probably benign	Het
Ryr2	T	G	13: 11,753,242 (GRCm39)	K1693T	probably damaging	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Setd2	T	G	9: 110,385,486 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,141,646 (GRCm39)	Y1109C	probably damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc22a2	A	G	17: 12,833,713 (GRCm39)		probably benign	Het
Slc35f4	A	T	14: 49,551,091 (GRCm39)	W108R	probably damaging	Het
Slc4a1ap	A	G	5: 31,691,524 (GRCm39)	E440G	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Svil	T	G	18: 5,094,640 (GRCm39)	V1440G	possibly damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tbck	T	C	3: 132,430,677 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Top1mt	C	T	15: 75,539,750 (GRCm39)	R287H	possibly damaging	Het
Trdn	A	G	10: 33,133,091 (GRCm39)	K314E	probably benign	Het
Troap	T	A	15: 98,975,779 (GRCm39)	C233S	probably benign	Het
Usp28	T	C	9: 48,947,247 (GRCm39)	M571T	probably damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vipr1	C	T	9: 121,494,930 (GRCm39)	P327L	possibly damaging	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn1r69	G	A	7: 10,314,678 (GRCm39)	R18W	probably benign	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps13b	A	T	15: 35,430,437 (GRCm39)		probably benign	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp385c	A	C	11: 100,521,532 (GRCm39)	V176G	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	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
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
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'- CTGTGCAGGCATTGGCTATG -3'
(R):5'- GTGGATCCTGGTGCATATAATTC -3'

Sequencing Primer
(F):5'- TCGCCTCCTACTATAACACC -3'
(R):5'- CAAGATCTGACATCGTCTACTGGAG -3'

Posted On

2014-06-30