Mutagenetix > Incidental Mutation

Incidental Mutation 'R1574:Slc6a4'

202748

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

045014-MU

Accession Numbers

Essential gene?

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

Stock #

R1574 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76889429-76923166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76910022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 426 (I426F)

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: I426F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: I426F

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: I426F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: I426F

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: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,935,296 (GRCm39)	N1276K	probably damaging	Het
Als2cl	A	G	9: 110,713,128 (GRCm39)	E6G	probably damaging	Het
Ankrd12	A	T	17: 66,293,269 (GRCm39)	D721E	probably benign	Het
Anpep	A	G	7: 79,488,155 (GRCm39)		probably null	Het
Apeh	A	T	9: 107,969,925 (GRCm39)		probably null	Het
Apob	A	T	12: 8,040,839 (GRCm39)	I655L	possibly damaging	Het
Atp2b1	T	A	10: 98,832,810 (GRCm39)	L437Q	probably damaging	Het
Cacna2d3	T	A	14: 29,073,779 (GRCm39)	R222S	probably damaging	Het
Cdc25b	T	A	2: 131,033,057 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,364,233 (GRCm39)		probably benign	Het
Cenpf	C	T	1: 189,384,910 (GRCm39)	D2457N	probably damaging	Het
Cenpo	A	T	12: 4,265,433 (GRCm39)		probably null	Het
Ces2b	G	T	8: 105,562,521 (GRCm39)	A284S	probably benign	Het
Clock	T	C	5: 76,390,679 (GRCm39)	D311G	probably damaging	Het
Csmd3	T	C	15: 47,559,257 (GRCm39)		probably null	Het
Dbil5	A	G	11: 76,109,308 (GRCm39)	M71V	probably benign	Het
Ddhd1	A	C	14: 45,833,004 (GRCm39)	L864R	probably damaging	Het
Ddx19a	T	C	8: 111,719,743 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,024,052 (GRCm39)	C1900R	probably damaging	Het
Dnah2	A	G	11: 69,405,514 (GRCm39)	V666A	probably benign	Het
Dnah5	T	A	15: 28,252,569 (GRCm39)	M754K	probably benign	Het
Dnajc15	A	T	14: 78,063,854 (GRCm39)	S145T	probably benign	Het
Drap1	A	G	19: 5,474,285 (GRCm39)	F25S	probably damaging	Het
Drgx	A	G	14: 32,327,281 (GRCm39)		probably benign	Het
Fam83e	G	A	7: 45,376,135 (GRCm39)	E283K	probably damaging	Het
Fbxo48	G	T	11: 16,903,368 (GRCm39)		probably benign	Het
Fndc3a	A	T	14: 72,793,997 (GRCm39)	I892N	probably damaging	Het
Gcn1	A	G	5: 115,753,611 (GRCm39)	T2321A	probably benign	Het
Gm1110	G	T	9: 26,792,422 (GRCm39)		probably benign	Het
Gm5499	T	C	17: 87,386,423 (GRCm39)		noncoding transcript	Het
Gmnc	G	T	16: 26,782,729 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,554,997 (GRCm39)	D1681G	possibly damaging	Het
Hc	G	A	2: 34,890,777 (GRCm39)		probably benign	Het
Hmcn2	A	C	2: 31,294,899 (GRCm39)	T2563P	probably damaging	Het
Iqcd	A	T	5: 120,738,300 (GRCm39)	K39N	probably damaging	Het
Irag2	T	G	6: 145,104,356 (GRCm39)		probably benign	Het
Kank2	A	G	9: 21,685,871 (GRCm39)	S668P	probably damaging	Het
Kcng1	T	A	2: 168,110,961 (GRCm39)	N68Y	probably damaging	Het
Kmt5b	T	A	19: 3,836,633 (GRCm39)		probably null	Het
Lama2	T	A	10: 27,200,750 (GRCm39)	I533F	possibly damaging	Het
Lcmt1	T	A	7: 123,002,131 (GRCm39)	I132N	probably damaging	Het
Mad2l2	G	T	4: 148,227,429 (GRCm39)		probably benign	Het
Mcph1	T	C	8: 18,851,428 (GRCm39)	I807T	probably damaging	Het
Mdn1	A	G	4: 32,722,315 (GRCm39)	I2366V	probably benign	Het
Moxd1	T	C	10: 24,176,217 (GRCm39)	W558R	probably damaging	Het
Myh13	T	C	11: 67,253,407 (GRCm39)		probably benign	Het
Myrf	T	C	19: 10,202,851 (GRCm39)	D141G	probably damaging	Het
Ncoa7	T	C	10: 30,570,097 (GRCm39)	I249M	probably damaging	Het
Obox5	T	C	7: 15,492,558 (GRCm39)	V171A	probably damaging	Het
Or13e8	A	T	4: 43,697,134 (GRCm39)	V13D	possibly damaging	Het
Or2c1	T	C	16: 3,657,521 (GRCm39)	I228T	probably damaging	Het
Or5ak20	A	T	2: 85,184,243 (GRCm39)	V9E	probably damaging	Het
Or6c219	A	G	10: 129,781,379 (GRCm39)	L69P	probably damaging	Het
Or7a36	C	A	10: 78,819,820 (GRCm39)	N32K	probably damaging	Het
Parp4	A	G	14: 56,839,752 (GRCm39)	T487A	probably damaging	Het
Pclo	A	G	5: 14,729,845 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,500,669 (GRCm39)	R1474C	probably damaging	Het
Qtrt2	A	G	16: 43,692,195 (GRCm39)		probably benign	Het
Sart1	G	A	19: 5,430,287 (GRCm39)	P788L	probably damaging	Het
Sdk1	A	G	5: 141,984,634 (GRCm39)	T740A	probably benign	Het
Serpinb1c	T	C	13: 33,072,979 (GRCm39)	D61G	possibly damaging	Het
Slc24a5	G	A	2: 124,922,782 (GRCm39)	G152S	probably damaging	Het
Stk33	C	T	7: 108,879,027 (GRCm39)	V441I	probably benign	Het
Sult1c2	A	G	17: 54,143,927 (GRCm39)		probably null	Het
Tdpoz4	T	A	3: 93,703,835 (GRCm39)	V44E	probably benign	Het
Tmprss13	C	A	9: 45,254,529 (GRCm39)	T432K	probably damaging	Het
Traf7	A	G	17: 24,729,527 (GRCm39)	L428P	probably damaging	Het
Tubb1	T	C	2: 174,299,215 (GRCm39)	I299T	probably benign	Het
Vmn1r158	A	T	7: 22,489,772 (GRCm39)	W146R	probably damaging	Het
Vmn1r42	A	G	6: 89,822,059 (GRCm39)	I170T	possibly damaging	Het
Vmn2r116	A	T	17: 23,606,063 (GRCm39)	H325L	probably damaging	Het
Zfp516	T	A	18: 83,011,300 (GRCm39)	L1111H	possibly damaging	Het
Zfp61	C	G	7: 23,990,635 (GRCm39)	K505N	probably damaging	Het
Zfp653	C	A	9: 21,969,274 (GRCm39)	E331*	probably null	Het
Zfp949	A	T	9: 88,451,830 (GRCm39)	K467*	probably null	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
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
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'- AGGATGGGTCTCAGCATCTAC -3'
(R):5'- ACCATTGCTGAGGAGTGGAC -3'

Sequencing Primer
(F):5'- GGGTCTCAGCATCTACCACCTC -3'
(R):5'- GGGAGGAGGGAGAATTACCTG -3'

Posted On

2014-06-23