Mutagenetix > Incidental Mutation

Incidental Mutation 'R5320:Slc6a15'

406065

Institutional Source

Beutler Lab

Gene Symbol

Slc6a15

Ensembl Gene

ENSMUSG00000019894

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 15

Synonyms

v7-3

MMRRC Submission

042903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5320 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103408206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 436 (V436L)

Ref Sequence

ENSEMBL: ENSMUSP00000136676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074204] [ENSMUST00000179636]

AlphaFold

Q8BG16

Predicted Effect

probably damaging
Transcript: ENSMUST00000074204
AA Change: V436L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: V436L

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
Pfam:SNF	61	644	2.2e-229	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179636
AA Change: V436L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: V436L

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
Pfam:SNF	61	644	2.2e-229	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased synaptosome transport activities but exhibit no behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,567	I581N	probably damaging	Het
Abcb10	A	G	8: 123,971,024	F187S	probably benign	Het
Actl11	T	A	9: 107,931,004	V842E	possibly damaging	Het
Akap12	A	G	10: 4,357,291	D1367G	probably benign	Het
AU040320	A	T	4: 126,823,716	H362L	possibly damaging	Het
Bmpr1a	C	T	14: 34,425,042	V258M	probably damaging	Het
Bptf	T	A	11: 107,081,367	K892*	probably null	Het
Cap2	A	G	13: 46,648,364	*422W	probably null	Het
Cars2	G	T	8: 11,517,854	H414N	probably benign	Het
Ccnt1	A	C	15: 98,544,243	S381R	probably benign	Het
Cdyl2	A	T	8: 116,595,055	C244*	probably null	Het
Cers2	A	G	3: 95,320,994	E115G	probably null	Het
Cpt1b	G	A	15: 89,419,274	P553S	probably benign	Het
Cuedc1	A	G	11: 88,177,310	E128G	probably damaging	Het
Dll4	T	A	2: 119,326,487	V80D	probably damaging	Het
Dopey2	T	C	16: 93,739,986	L113P	probably damaging	Het
Doxl2	T	A	6: 48,975,540	L133Q	probably damaging	Het
Fam98a	A	G	17: 75,538,815	I312T	probably damaging	Het
Gnrhr	T	G	5: 86,197,614	K71T	possibly damaging	Het
Gtf3c3	A	T	1: 54,405,873	L674Q	probably damaging	Het
Hipk2	A	T	6: 38,818,277	H352Q	probably damaging	Het
Hivep1	T	C	13: 42,159,639	V1785A	probably damaging	Het
Hspa4	A	T	11: 53,262,983	I687N	probably damaging	Het
Krt18	A	T	15: 102,028,520	D81V	probably damaging	Het
Lama3	A	C	18: 12,552,855	D1142A	probably damaging	Het
Lnpep	A	G	17: 17,546,465	I713T	possibly damaging	Het
Man2b2	T	A	5: 36,810,333	Y897F	probably damaging	Het
Muc5b	A	T	7: 141,859,001	I1895F	unknown	Het
Myh8	G	A	11: 67,286,263	V414I	probably damaging	Het
Myo1d	A	T	11: 80,684,323		probably null	Het
Nav2	A	T	7: 49,491,373	M889L	probably benign	Het
Oc90	C	T	15: 65,882,608	G236D	probably benign	Het
Olfr60	A	G	7: 140,345,635	V118A	probably benign	Het
Pak4	A	G	7: 28,568,206	I11T	probably damaging	Het
Papss2	T	C	19: 32,638,387	I173T	probably damaging	Het
Pcsk9	A	T	4: 106,463,791	D40E	probably benign	Het
Pdzrn3	G	C	6: 101,151,103	H867Q	probably damaging	Het
Plcb1	A	T	2: 135,252,776	I174F	possibly damaging	Het
Pom121l2	G	A	13: 21,981,845	W95*	probably null	Het
Prcp	A	T	7: 92,928,635	T336S	probably benign	Het
Prdm11	A	C	2: 93,012,881	S78A	probably benign	Het
Ralgds	T	C	2: 28,545,212	I405T	probably damaging	Het
Rasgrf1	A	G	9: 90,020,425	R1208G	probably damaging	Het
Rasgrp2	T	A	19: 6,408,834		probably null	Het
Rb1	A	T	14: 73,213,126	Y599*	probably null	Het
Rnf141	A	T	7: 110,833,803	F62L	probably damaging	Het
Rsl24d1	T	A	9: 73,116,416	F292I	possibly damaging	Het
Scn10a	C	T	9: 119,648,109	V736I	probably damaging	Het
Sim2	A	T	16: 94,104,739	T141S	probably benign	Het
Smarca2	T	C	19: 26,691,372	S924P	probably damaging	Het
Svs1	T	A	6: 48,987,575	F172L	probably benign	Het
Tacc1	T	C	8: 25,181,865	E449G	probably benign	Het
Tlr3	A	T	8: 45,399,100	N253K	possibly damaging	Het
Tmem198	G	A	1: 75,479,856	A82T	probably benign	Het
Tom1l2	A	T	11: 60,242,822	L54*	probably null	Het
Trav12-2	A	G	14: 53,616,899	Y110C	probably benign	Het
Trdn	T	A	10: 33,333,251		probably null	Het
Trim36	G	T	18: 46,167,498	P690Q	probably damaging	Het
Trpc4	A	T	3: 54,299,178	M600L	probably damaging	Het
Trpm2	T	A	10: 77,923,521	Q1143L	probably benign	Het
Usp34	T	A	11: 23,333,739	D144E	probably benign	Het
Vps18	A	T	2: 119,297,377	R894*	probably null	Het
Vwa1	A	G	4: 155,770,912	V248A	probably benign	Het
Wdr75	T	C	1: 45,799,051	V40A	probably damaging	Het

Other mutations in Slc6a15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Slc6a15	APN	10	103389141	missense	probably benign
IGL01320:Slc6a15	APN	10	103404745	missense	probably benign	0.00
IGL01924:Slc6a15	APN	10	103404825	splice site	probably null
IGL02066:Slc6a15	APN	10	103416658	missense	probably damaging	0.98
IGL02164:Slc6a15	APN	10	103418222	missense	probably benign	0.01
IGL02551:Slc6a15	APN	10	103404275	splice site	probably benign
IGL02744:Slc6a15	APN	10	103418033	missense	probably benign	0.03
R0028:Slc6a15	UTSW	10	103416680	missense	probably benign	0.00
R0143:Slc6a15	UTSW	10	103418068	missense	probably benign	0.02
R0158:Slc6a15	UTSW	10	103389347	splice site	probably benign
R0165:Slc6a15	UTSW	10	103409809	missense	probably null	0.04
R0349:Slc6a15	UTSW	10	103418225	missense	probably benign	0.06
R0383:Slc6a15	UTSW	10	103418053	missense	probably damaging	1.00
R0614:Slc6a15	UTSW	10	103404352	nonsense	probably null
R0784:Slc6a15	UTSW	10	103416800	splice site	probably benign
R0944:Slc6a15	UTSW	10	103409796	missense	probably benign	0.01
R1795:Slc6a15	UTSW	10	103400260	missense	probably benign
R1882:Slc6a15	UTSW	10	103395064	missense	probably benign	0.20
R2061:Slc6a15	UTSW	10	103409734	missense	probably benign	0.20
R2156:Slc6a15	UTSW	10	103393408	missense	probably damaging	1.00
R2358:Slc6a15	UTSW	10	103416785	missense	probably benign	0.00
R2849:Slc6a15	UTSW	10	103404691	missense	probably benign	0.01
R2921:Slc6a15	UTSW	10	103418387	missense	probably damaging	0.99
R3709:Slc6a15	UTSW	10	103393414	missense	probably benign	0.00
R4532:Slc6a15	UTSW	10	103409787	missense	possibly damaging	0.69
R4825:Slc6a15	UTSW	10	103418060	missense	probably benign	0.05
R4909:Slc6a15	UTSW	10	103404414	missense	probably damaging	1.00
R5112:Slc6a15	UTSW	10	103389226	missense	probably benign
R5364:Slc6a15	UTSW	10	103393508	missense	probably damaging	0.99
R6305:Slc6a15	UTSW	10	103389170	missense	probably benign	0.31
R6348:Slc6a15	UTSW	10	103404367	missense	probably damaging	1.00
R6729:Slc6a15	UTSW	10	103393914	missense	probably damaging	0.99
R6781:Slc6a15	UTSW	10	103395067	missense	probably damaging	0.99
R7409:Slc6a15	UTSW	10	103408302	missense	probably benign
R7549:Slc6a15	UTSW	10	103389137	missense	probably benign
R7660:Slc6a15	UTSW	10	103393380	splice site	probably null
R7839:Slc6a15	UTSW	10	103404799	missense	probably benign
R7948:Slc6a15	UTSW	10	103404295	missense	possibly damaging	0.95
R8278:Slc6a15	UTSW	10	103394029	critical splice donor site	probably null
R8379:Slc6a15	UTSW	10	103389187	missense	probably benign	0.00
R8685:Slc6a15	UTSW	10	103409695	missense	possibly damaging	0.68
R8712:Slc6a15	UTSW	10	103389251	missense	probably damaging	1.00
R8719:Slc6a15	UTSW	10	103404315	missense	probably damaging	0.99
R8832:Slc6a15	UTSW	10	103389318	missense	probably damaging	1.00
R8940:Slc6a15	UTSW	10	103393496	missense	probably damaging	1.00
R8978:Slc6a15	UTSW	10	103395092	nonsense	probably null
R9050:Slc6a15	UTSW	10	103416655	missense	possibly damaging	0.88
R9113:Slc6a15	UTSW	10	103400279	missense	probably damaging	1.00
R9242:Slc6a15	UTSW	10	103393545	nonsense	probably null
R9493:Slc6a15	UTSW	10	103393416	missense	probably benign	0.35
R9529:Slc6a15	UTSW	10	103404722	missense	probably benign	0.14
R9532:Slc6a15	UTSW	10	103404472	missense	probably damaging	0.98
RF013:Slc6a15	UTSW	10	103400216	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTACTCTTTGGGTCCAGGCAATG -3'
(R):5'- TGGGCTACATTGAAGTCAAGAG -3'

Sequencing Primer
(F):5'- TGAGCACATAACTTAAGGAATAAAGC -3'
(R):5'- AGTCAAGAGTAATATCTCACCAGTG -3'

Posted On

2016-07-22