Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Slc6a15'

24115

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

038441-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0165 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

103367783-103419377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103409809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 551 (D551G)

Ref Sequence

ENSEMBL: ENSMUSP00000136676 (fasta)

Gene Model

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

AlphaFold

Q8BG16

Predicted Effect

probably null
Transcript: ENSMUST00000074204
AA Change: D551G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: D551G

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 null
Transcript: ENSMUST00000179636
AA Change: D551G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: D551G

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

Meta Mutation Damage Score

0.1984

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,216,382 (GRCm38)	V1413M	probably damaging	Het
2700049A03Rik	T	C	12: 71,167,150 (GRCm38)	I717T	possibly damaging	Het
3632451O06Rik	A	G	14: 49,773,786 (GRCm38)	S155P	probably benign	Het
6430571L13Rik	A	G	9: 107,346,184 (GRCm38)		probably benign	Het
Abca15	T	A	7: 120,350,903 (GRCm38)		probably benign	Het
Abca6	A	G	11: 110,219,604 (GRCm38)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,852,863 (GRCm38)		probably benign	Het
Agap3	A	G	5: 24,479,745 (GRCm38)	T544A	probably damaging	Het
Ahrr	G	A	13: 74,283,024 (GRCm38)		probably benign	Het
Akr1c20	T	C	13: 4,523,296 (GRCm38)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,540,484 (GRCm38)	S459P	probably benign	Het
Ascc3	T	A	10: 50,842,127 (GRCm38)		probably null	Het
Brd1	T	C	15: 88,729,777 (GRCm38)	N305S	probably damaging	Het
Catip	T	A	1: 74,368,469 (GRCm38)	L320Q	possibly damaging	Het
Cttnbp2	G	A	6: 18,435,410 (GRCm38)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,373,280 (GRCm38)	N228T	probably benign	Het
Dapk1	T	C	13: 60,761,593 (GRCm38)	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,535,988 (GRCm38)		probably benign	Het
Ddhd1	G	A	14: 45,595,592 (GRCm38)	T849M	probably damaging	Het
Dnah6	A	G	6: 73,021,323 (GRCm38)	S3987P	probably benign	Het
Dst	C	A	1: 34,154,646 (GRCm38)		probably benign	Het
Epha2	T	C	4: 141,321,892 (GRCm38)		probably null	Het
Ern2	T	C	7: 122,179,779 (GRCm38)	T281A	probably benign	Het
Extl1	A	G	4: 134,357,703 (GRCm38)	F652S	probably damaging	Het
Gckr	A	G	5: 31,326,948 (GRCm38)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,451,499 (GRCm38)		probably null	Het
Gm7535	T	C	17: 17,911,175 (GRCm38)		probably benign	Het
Gmps	T	A	3: 63,993,954 (GRCm38)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,698,527 (GRCm38)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 109,675,366 (GRCm38)		probably benign	Het
Lama3	A	T	18: 12,524,810 (GRCm38)	I1934F	probably damaging	Het
Lars	A	T	18: 42,202,697 (GRCm38)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,246,519 (GRCm38)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,462,315 (GRCm38)	T537K	probably damaging	Het
Ltn1	G	A	16: 87,405,519 (GRCm38)		probably benign	Het
Meiob	A	G	17: 24,835,161 (GRCm38)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,211,123 (GRCm38)	T41M	probably damaging	Het
Miga1	C	T	3: 152,290,843 (GRCm38)	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,159,748 (GRCm38)		probably null	Het
Olfr486	T	C	7: 108,172,675 (GRCm38)	D23G	probably benign	Het
Otog	G	A	7: 46,304,231 (GRCm38)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,632,925 (GRCm38)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,539,514 (GRCm38)		probably benign	Het
Prune2	T	A	19: 17,122,610 (GRCm38)	M1826K	probably benign	Het
Qk	T	A	17: 10,238,963 (GRCm38)	D159V	probably damaging	Het
Rab12	A	T	17: 66,500,317 (GRCm38)	I139N	probably damaging	Het
Rab25	T	A	3: 88,548,055 (GRCm38)	E7D	probably benign	Het
Rala	A	T	13: 17,888,589 (GRCm38)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,388,487 (GRCm38)		probably benign	Het
Rbl2	T	A	8: 91,074,176 (GRCm38)	Y89N	probably damaging	Het
Rho	A	T	6: 115,932,227 (GRCm38)	I75F	probably damaging	Het
Slc38a4	C	A	15: 97,008,949 (GRCm38)	A303S	probably benign	Het
Smyd3	T	C	1: 179,043,872 (GRCm38)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,479,514 (GRCm38)	L180*	probably null	Het
Stat6	T	C	10: 127,657,227 (GRCm38)	V576A	probably damaging	Het
Strn	T	C	17: 78,677,374 (GRCm38)	D127G	possibly damaging	Het
Syne1	T	C	10: 5,033,096 (GRCm38)	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,153,202 (GRCm38)		probably null	Het
Tcf3	C	T	10: 80,412,997 (GRCm38)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,226,087 (GRCm38)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,968,139 (GRCm38)		probably benign	Het
Tmprss11c	A	T	5: 86,231,927 (GRCm38)		probably benign	Het
Tnfsf18	A	G	1: 161,494,731 (GRCm38)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,858,670 (GRCm38)		probably null	Het
Trpm7	A	T	2: 126,797,513 (GRCm38)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,478,938 (GRCm38)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,721,342 (GRCm38)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,776,153 (GRCm38)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717 (GRCm38)	A182T	probably benign	Het
Vwce	T	C	19: 10,659,973 (GRCm38)		probably benign	Het
Wdhd1	A	G	14: 47,267,068 (GRCm38)	S350P	probably benign	Het
Zbtb21	A	G	16: 97,951,404 (GRCm38)	S560P	probably damaging	Het

Other mutations in Slc6a15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Slc6a15	APN	10	103,389,141 (GRCm38)	missense	probably benign
IGL01320:Slc6a15	APN	10	103,404,745 (GRCm38)	missense	probably benign	0.00
IGL01924:Slc6a15	APN	10	103,404,825 (GRCm38)	splice site	probably null
IGL02066:Slc6a15	APN	10	103,416,658 (GRCm38)	missense	probably damaging	0.98
IGL02164:Slc6a15	APN	10	103,418,222 (GRCm38)	missense	probably benign	0.01
IGL02551:Slc6a15	APN	10	103,404,275 (GRCm38)	splice site	probably benign
IGL02744:Slc6a15	APN	10	103,418,033 (GRCm38)	missense	probably benign	0.03
R0028:Slc6a15	UTSW	10	103,416,680 (GRCm38)	missense	probably benign	0.00
R0143:Slc6a15	UTSW	10	103,418,068 (GRCm38)	missense	probably benign	0.02
R0158:Slc6a15	UTSW	10	103,389,347 (GRCm38)	splice site	probably benign
R0349:Slc6a15	UTSW	10	103,418,225 (GRCm38)	missense	probably benign	0.06
R0383:Slc6a15	UTSW	10	103,418,053 (GRCm38)	missense	probably damaging	1.00
R0614:Slc6a15	UTSW	10	103,404,352 (GRCm38)	nonsense	probably null
R0784:Slc6a15	UTSW	10	103,416,800 (GRCm38)	splice site	probably benign
R0944:Slc6a15	UTSW	10	103,409,796 (GRCm38)	missense	probably benign	0.01
R1795:Slc6a15	UTSW	10	103,400,260 (GRCm38)	missense	probably benign
R1882:Slc6a15	UTSW	10	103,395,064 (GRCm38)	missense	probably benign	0.20
R2061:Slc6a15	UTSW	10	103,409,734 (GRCm38)	missense	probably benign	0.20
R2156:Slc6a15	UTSW	10	103,393,408 (GRCm38)	missense	probably damaging	1.00
R2358:Slc6a15	UTSW	10	103,416,785 (GRCm38)	missense	probably benign	0.00
R2849:Slc6a15	UTSW	10	103,404,691 (GRCm38)	missense	probably benign	0.01
R2921:Slc6a15	UTSW	10	103,418,387 (GRCm38)	missense	probably damaging	0.99
R3709:Slc6a15	UTSW	10	103,393,414 (GRCm38)	missense	probably benign	0.00
R4532:Slc6a15	UTSW	10	103,409,787 (GRCm38)	missense	possibly damaging	0.69
R4825:Slc6a15	UTSW	10	103,418,060 (GRCm38)	missense	probably benign	0.05
R4909:Slc6a15	UTSW	10	103,404,414 (GRCm38)	missense	probably damaging	1.00
R5112:Slc6a15	UTSW	10	103,389,226 (GRCm38)	missense	probably benign
R5320:Slc6a15	UTSW	10	103,408,206 (GRCm38)	missense	probably damaging	1.00
R5364:Slc6a15	UTSW	10	103,393,508 (GRCm38)	missense	probably damaging	0.99
R6305:Slc6a15	UTSW	10	103,389,170 (GRCm38)	missense	probably benign	0.31
R6348:Slc6a15	UTSW	10	103,404,367 (GRCm38)	missense	probably damaging	1.00
R6729:Slc6a15	UTSW	10	103,393,914 (GRCm38)	missense	probably damaging	0.99
R6781:Slc6a15	UTSW	10	103,395,067 (GRCm38)	missense	probably damaging	0.99
R7409:Slc6a15	UTSW	10	103,408,302 (GRCm38)	missense	probably benign
R7549:Slc6a15	UTSW	10	103,389,137 (GRCm38)	missense	probably benign
R7660:Slc6a15	UTSW	10	103,393,380 (GRCm38)	splice site	probably null
R7839:Slc6a15	UTSW	10	103,404,799 (GRCm38)	missense	probably benign
R7948:Slc6a15	UTSW	10	103,404,295 (GRCm38)	missense	possibly damaging	0.95
R8278:Slc6a15	UTSW	10	103,394,029 (GRCm38)	critical splice donor site	probably null
R8379:Slc6a15	UTSW	10	103,389,187 (GRCm38)	missense	probably benign	0.00
R8685:Slc6a15	UTSW	10	103,409,695 (GRCm38)	missense	possibly damaging	0.68
R8712:Slc6a15	UTSW	10	103,389,251 (GRCm38)	missense	probably damaging	1.00
R8719:Slc6a15	UTSW	10	103,404,315 (GRCm38)	missense	probably damaging	0.99
R8832:Slc6a15	UTSW	10	103,389,318 (GRCm38)	missense	probably damaging	1.00
R8940:Slc6a15	UTSW	10	103,393,496 (GRCm38)	missense	probably damaging	1.00
R8978:Slc6a15	UTSW	10	103,395,092 (GRCm38)	nonsense	probably null
R9050:Slc6a15	UTSW	10	103,416,655 (GRCm38)	missense	possibly damaging	0.88
R9113:Slc6a15	UTSW	10	103,400,279 (GRCm38)	missense	probably damaging	1.00
R9242:Slc6a15	UTSW	10	103,393,545 (GRCm38)	nonsense	probably null
R9493:Slc6a15	UTSW	10	103,393,416 (GRCm38)	missense	probably benign	0.35
R9529:Slc6a15	UTSW	10	103,404,722 (GRCm38)	missense	probably benign	0.14
R9532:Slc6a15	UTSW	10	103,404,472 (GRCm38)	missense	probably damaging	0.98
RF013:Slc6a15	UTSW	10	103,400,216 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTGGCAATCTCATTACAAGCCACAC -3'
(R):5'- GCGTACACCTCAGTAAATTCCCCTATC -3'

Sequencing Primer
(F):5'- attttataatGAGAGAAAGACTGGGC -3'
(R):5'- CAACAAAAGCCTGTGAACTATTTGAC -3'

Posted On

2013-04-16