Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Slc6a12'

332850

Institutional Source

Beutler Lab

Gene Symbol

Slc6a12

Ensembl Gene

ENSMUSG00000030109

Gene Name

solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12

Synonyms

BGT1, Gabt2

MMRRC Submission

041589-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4515 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

121343076-121365775 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 121353530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032200] [ENSMUST00000163771] [ENSMUST00000165456] [ENSMUST00000166390] [ENSMUST00000166457] [ENSMUST00000171008] [ENSMUST00000171008]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032200

SMART Domains

Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109

Domain	Start	End	E-Value	Type
Pfam:SNF	50	575	2e-242	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163771

SMART Domains

Protein: ENSMUSP00000127779
Gene: ENSMUSG00000030109

Domain	Start	End	E-Value	Type
Pfam:SNF	1	128	3.2e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165456

SMART Domains

Protein: ENSMUSP00000130715
Gene: ENSMUSG00000030109

Domain	Start	End	E-Value	Type
Pfam:SNF	1	49	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166390

SMART Domains

Protein: ENSMUSP00000128217
Gene: ENSMUSG00000030109

Domain	Start	End	E-Value	Type
low complexity region	35	52	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000166457

SMART Domains

Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109

Domain	Start	End	E-Value	Type
Pfam:SNF	36	561	2.5e-242	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170582

Predicted Effect

probably null
Transcript: ENSMUST00000171008

SMART Domains

Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109

Domain	Start	End	E-Value	Type
Pfam:SNF	36	518	1.5e-227	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000171008

SMART Domains

Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109

Domain	Start	End	E-Value	Type
Pfam:SNF	36	518	1.5e-227	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171874

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit normal seizure threshold. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,647,744	K630N	probably damaging	Het
Acss2	C	A	2: 155,556,363	L335I	probably benign	Het
Alg6	A	T	4: 99,752,786		probably benign	Het
Atp8b3	C	T	10: 80,523,847	M984I	probably benign	Het
Bsn	G	T	9: 108,104,078		probably null	Het
Ccdc88a	T	C	11: 29,482,651	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,992,951	E52K	probably benign	Het
Ces1a	T	A	8: 93,020,904	N500Y	probably damaging	Het
Chd3	G	T	11: 69,349,877	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,385,090	L39P	probably damaging	Het
Ckm	A	G	7: 19,420,284	K319E	probably damaging	Het
Cnot6	C	T	11: 49,702,536		probably null	Het
Copg1	A	G	6: 87,907,546		probably benign	Het
Dbn1	A	T	13: 55,476,229	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,465,631	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,601,387	D807E	probably benign	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Galnt3	C	A	2: 66,093,610	R438L	probably damaging	Het
Glod4	T	A	11: 76,243,571	D25V	probably damaging	Het
Gm11492	A	G	11: 87,568,057	H419R	probably benign	Het
Gm9008	C	T	6: 76,496,809	V275I	probably benign	Het
Golga4	T	A	9: 118,559,008	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,367,830		probably null	Het
Hemgn	T	C	4: 46,396,477	E253G	probably damaging	Het
Itsn1	G	A	16: 91,899,649	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257	V947A	probably benign	Het
Kif9	A	G	9: 110,489,867	H133R	probably benign	Het
Lce1l	T	C	3: 92,850,474	T26A	unknown	Het
Macf1	T	C	4: 123,493,988	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,763,938	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,578,191	T49I	probably benign	Het
Oc90	A	G	15: 65,892,393	L138P	probably damaging	Het
Olfr834	T	G	9: 18,987,982		probably null	Het
Olfr954	C	T	9: 39,462,231	R264*	probably null	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Paqr3	T	A	5: 97,103,361	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,091,379	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,278,896	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,672,725	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,225,531	S109G	probably damaging	Het
Prkch	A	G	12: 73,702,838	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,242,379	R253L	probably damaging	Het
Rabac1	A	T	7: 24,970,160	Y173*	probably null	Het
Rapsn	G	A	2: 91,043,212	V288M	possibly damaging	Het
Sec31a	A	G	5: 100,365,958	S993P	probably damaging	Het
Serpina9	T	A	12: 104,001,294	M281L	probably benign	Het
Serpine1	G	A	5: 137,069,468	A117V	probably damaging	Het
Sh3tc2	A	G	18: 61,987,693		probably null	Het
Sipa1l2	T	C	8: 125,492,226	D124G	probably benign	Het
Stk11	A	G	10: 80,116,601		probably benign	Het
Tcaf3	A	G	6: 42,589,996	Y720H	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,196	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,957,356	S988N	probably benign	Het
Txn2	A	T	15: 77,915,443		probably null	Het
Ugt1a10	T	A	1: 88,056,197	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,681,213	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,954,258	D548V	probably damaging	Het

Other mutations in Slc6a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Slc6a12	APN	6	121360455	missense	probably damaging	1.00
IGL02066:Slc6a12	APN	6	121352056	missense	probably damaging	0.97
IGL02146:Slc6a12	APN	6	121353501	missense	probably benign	0.01
IGL02475:Slc6a12	APN	6	121354375	splice site	probably null
IGL02498:Slc6a12	APN	6	121361070	missense	probably benign
IGL02537:Slc6a12	APN	6	121360514	missense	probably benign	0.00
IGL02696:Slc6a12	APN	6	121363252	missense	probably benign	0.00
IGL03255:Slc6a12	APN	6	121354287	missense	probably damaging	0.99
IGL03397:Slc6a12	APN	6	121357045	missense	probably damaging	1.00
R0050:Slc6a12	UTSW	6	121360419	splice site	probably benign
R0050:Slc6a12	UTSW	6	121360419	splice site	probably benign
R0201:Slc6a12	UTSW	6	121355372	missense	probably benign	0.03
R0255:Slc6a12	UTSW	6	121356918	missense	probably damaging	1.00
R0302:Slc6a12	UTSW	6	121363259	missense	probably damaging	1.00
R0317:Slc6a12	UTSW	6	121358625	missense	possibly damaging	0.80
R0394:Slc6a12	UTSW	6	121346998	critical splice donor site	probably null
R0492:Slc6a12	UTSW	6	121355372	missense	probably benign	0.03
R0532:Slc6a12	UTSW	6	121356918	missense	probably damaging	1.00
R0550:Slc6a12	UTSW	6	121356918	missense	probably damaging	1.00
R0551:Slc6a12	UTSW	6	121356918	missense	probably damaging	1.00
R1421:Slc6a12	UTSW	6	121359126	missense	probably damaging	1.00
R1487:Slc6a12	UTSW	6	121363757	nonsense	probably null
R1879:Slc6a12	UTSW	6	121347423	missense	probably damaging	1.00
R1905:Slc6a12	UTSW	6	121347443	nonsense	probably null
R1925:Slc6a12	UTSW	6	121360526	missense	probably benign	0.44
R3944:Slc6a12	UTSW	6	121354280	critical splice acceptor site	probably null
R4559:Slc6a12	UTSW	6	121363861	splice site	probably null
R4628:Slc6a12	UTSW	6	121351992	nonsense	probably null
R4665:Slc6a12	UTSW	6	121359013	splice site	probably benign
R4753:Slc6a12	UTSW	6	121356903	splice site	probably benign
R4948:Slc6a12	UTSW	6	121355322	missense	probably benign	0.35
R5517:Slc6a12	UTSW	6	121354339	missense	probably benign	0.10
R6717:Slc6a12	UTSW	6	121354303	missense	probably benign	0.01
R7139:Slc6a12	UTSW	6	121365319	missense	probably benign
R7318:Slc6a12	UTSW	6	121352013	missense	probably damaging	0.99
R7318:Slc6a12	UTSW	6	121352019	missense	probably benign	0.26
R8310:Slc6a12	UTSW	6	121363291	missense	probably damaging	1.00
R8703:Slc6a12	UTSW	6	121347488	missense	probably benign
R9218:Slc6a12	UTSW	6	121358664	missense	probably damaging	1.00
R9648:Slc6a12	UTSW	6	121358702	nonsense	probably null
R9682:Slc6a12	UTSW	6	121363745	missense	probably benign
Z1176:Slc6a12	UTSW	6	121363827	missense	probably benign
Z1177:Slc6a12	UTSW	6	121356967	missense	possibly damaging	0.95
Z1177:Slc6a12	UTSW	6	121365272	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTGGCAGACCCTCCATGAAATTC -3'
(R):5'- GTTGCATAACAGCCCCGTTG -3'

Sequencing Primer
(F):5'- GCTTATGCAGATCTCTTTGACC -3'
(R):5'- GTTGCTTCTAACAGTGCCACACAG -3'

Posted On

2015-08-18