Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Slc6a4'

565812

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

045361-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76889429-76923166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76901522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 86 (M86L)

Ref Sequence

ENSEMBL: ENSMUSP00000021195 (fasta)

Gene Model

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

AlphaFold

Q60857

Predicted Effect

probably benign
Transcript: ENSMUST00000021195
AA Change: M86L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: M86L

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: M86L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: M86L

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
AA Change: M86L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115264
Gene: ENSMUSG00000020838
AA Change: M86L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,700,504 (GRCm39)	V278A	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abce1	C	A	8: 80,411,885 (GRCm39)	G592*	probably null	Het
Acad10	A	C	5: 121,787,538 (GRCm39)	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,253,563 (GRCm39)	I672V	not run	Het
Adgrb1	A	T	15: 74,452,512 (GRCm39)	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,768,955 (GRCm39)	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,537,469 (GRCm39)	T418A	probably benign	Het
Azin1	G	A	15: 38,501,652 (GRCm39)	T33I	probably damaging	Het
Bicra	T	C	7: 15,706,425 (GRCm39)	T1339A	probably damaging	Het
Bltp2	A	G	11: 78,165,654 (GRCm39)	Q1346R	probably damaging	Het
Cacna1s	A	G	1: 136,001,446 (GRCm39)	Y299C	probably damaging	Het
Clip1	A	C	5: 123,751,857 (GRCm39)	C641W		Het
Clip3	T	C	7: 30,005,237 (GRCm39)	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,191,144 (GRCm39)	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,466,339 (GRCm39)	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,903,818 (GRCm39)	N280I	probably benign	Het
Diaph3	A	G	14: 87,104,020 (GRCm39)	F788S	probably damaging	Het
Drc7	A	G	8: 95,798,207 (GRCm39)	N484S	probably damaging	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Fat4	A	T	3: 38,943,842 (GRCm39)	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,649,673 (GRCm39)	K217*	probably null	Het
Igkv12-89	A	G	6: 68,812,061 (GRCm39)	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526 (GRCm39)		probably null	Het
Ipo8	T	A	6: 148,725,979 (GRCm39)	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,100,693 (GRCm39)	M1T	probably null	Het
Klrb1c	A	T	6: 128,761,220 (GRCm39)	C136S	probably benign	Het
Morn2	A	G	17: 80,604,688 (GRCm39)	E48G	probably damaging	Het
Myh1	A	T	11: 67,092,670 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,686,393 (GRCm39)	S603P	probably benign	Het
Nlrc3	G	A	16: 3,765,741 (GRCm39)	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,343,352 (GRCm39)	R76*	probably null	Het
Or1e1f	T	C	11: 73,855,634 (GRCm39)	S67P	probably damaging	Het
Or52n1	G	T	7: 104,382,800 (GRCm39)	T257K	probably damaging	Het
Or5h22	A	T	16: 58,894,555 (GRCm39)	M296K	probably benign	Het
Or7e176	A	C	9: 20,171,555 (GRCm39)	I140L	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Papolg	A	G	11: 23,817,394 (GRCm39)	V601A	not run	Het
Pde4dip	T	C	3: 97,666,198 (GRCm39)	T349A	probably benign	Het
Pdlim5	T	C	3: 142,017,741 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,366,676 (GRCm39)	N718S	probably benign	Het
Plcxd3	A	G	15: 4,546,401 (GRCm39)	H135R	probably damaging	Het
Plxna2	A	T	1: 194,327,191 (GRCm39)	Y375F	probably damaging	Het
Prkca	C	T	11: 108,231,471 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,535,628 (GRCm39)	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384 (GRCm39)	T80A	probably benign	Het
Ptpn4	C	T	1: 119,610,261 (GRCm39)	V696I	possibly damaging	Het
Pygl	A	T	12: 70,263,342 (GRCm39)	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,354,469 (GRCm39)	Y298H	probably damaging	Het
Rit2	A	G	18: 31,449,892 (GRCm39)		probably null	Het
Runx1t1	G	A	4: 13,846,935 (GRCm39)	G240R	probably damaging	Het
Scn10a	A	G	9: 119,493,845 (GRCm39)		probably null	Het
Serpina16	A	C	12: 103,638,691 (GRCm39)		probably null	Het
Slc17a3	A	T	13: 24,039,831 (GRCm39)	M290L		Het
Spag7	A	T	11: 70,556,139 (GRCm39)	V46E	probably benign	Het
Spata31h1	G	A	10: 82,127,131 (GRCm39)	R1960W	possibly damaging	Het
Sptlc1	T	C	13: 53,498,914 (GRCm39)	I271V	probably benign	Het
Stk17b	A	C	1: 53,796,674 (GRCm39)	H364Q	probably benign	Het
Strc	T	C	2: 121,209,933 (GRCm39)	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,705,026 (GRCm39)	D148V	probably damaging	Het
Tirap	G	A	9: 35,100,225 (GRCm39)	P153L	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem51	T	A	4: 141,759,094 (GRCm39)	D218V	probably damaging	Het
Trim40	A	T	17: 37,193,554 (GRCm39)	D218E	probably benign	Het
Ttc21b	T	C	2: 66,039,062 (GRCm39)	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,002,914 (GRCm39)	L108P	probably damaging	Het
Washc2	C	A	6: 116,204,379 (GRCm39)	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,502,137 (GRCm39)	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712 (GRCm39)	V82A	probably damaging	Het
Zfp853	G	C	5: 143,273,493 (GRCm39)	A724G	unknown	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
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
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'- TGCCAAGAAAATGGTGTTCTG -3'
(R):5'- TTAGGCTCACGTCAGCTACC -3'

Sequencing Primer
(F):5'- TTCTGCAGAAGGGTGTCCC -3'
(R):5'- GCTACCCAGGACAGTAAAGATTATG -3'

Posted On

2019-06-26