Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02696:Slc6a12'

303938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc6a12

Ensembl Gene

ENSMUSG00000030109

Gene Name

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

Synonyms

BGT1, Gabt2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02696

Quality Score

Status

Chromosome

Chromosomal Location

121343076-121365775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121363252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 485 (V485L)

Ref Sequence

ENSEMBL: ENSMUSP00000126708 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032200
AA Change: V499L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109
AA Change: V499L

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: ENSMUST00000166457
AA Change: V485L

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

SMART Domains

Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109
AA Change: V485L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170582

Predicted Effect

probably benign
Transcript: ENSMUST00000171008
AA Change: V485L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109
AA Change: V485L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171874

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,982,671	T43A	probably benign	Het
Adgrd1	T	C	5: 129,140,854		probably benign	Het
Asxl1	T	A	2: 153,400,195	Y888*	probably null	Het
Atp8b5	T	C	4: 43,369,634	V924A	possibly damaging	Het
AU040320	T	C	4: 126,842,587	L821P	probably damaging	Het
Capn11	T	C	17: 45,632,709	N596S	probably damaging	Het
Cnot1	C	A	8: 95,745,017	V1219F	probably benign	Het
Cope	T	C	8: 70,310,493		probably null	Het
Crim1	A	G	17: 78,279,973	E169G	probably damaging	Het
Csmd3	A	T	15: 47,669,669	F2395I	probably benign	Het
Ctso	A	C	3: 81,951,384	D220A	possibly damaging	Het
Cttnbp2	G	A	6: 18,434,129	P577S	probably benign	Het
D930048N14Rik	T	A	11: 51,653,994		probably benign	Het
Dck	T	A	5: 88,772,807	S129T	probably damaging	Het
Dlc1	A	G	8: 36,574,172	V1301A	possibly damaging	Het
Dusp16	G	A	6: 134,718,435	R478C	probably damaging	Het
Ermap	C	T	4: 119,187,707	R49K	possibly damaging	Het
Flnc	A	G	6: 29,446,698	K969R	probably damaging	Het
Gjb2	A	T	14: 57,100,312	F146L	probably damaging	Het
Hdc	A	T	2: 126,594,300	D550E	probably damaging	Het
Hs6st3	A	T	14: 119,869,319	I380F	probably damaging	Het
Htr1d	T	C	4: 136,443,411	V317A	probably benign	Het
Kalrn	A	T	16: 34,220,114	M963K	probably damaging	Het
Kl	T	A	5: 150,980,985	S401T	probably benign	Het
Lair1	A	G	7: 4,010,849		probably benign	Het
Lrp5	C	T	19: 3,602,253	V1206I	probably benign	Het
Matn4	A	G	2: 164,396,838	F343S	probably benign	Het
Mrgpra4	G	T	7: 47,981,503	R117S	possibly damaging	Het
Myh14	T	C	7: 44,665,106	Y131C	probably damaging	Het
Nap1l4	A	T	7: 143,524,161	N345K	possibly damaging	Het
Oas1c	T	C	5: 120,805,463	R204G	probably benign	Het
Olfr1061	T	A	2: 86,413,615	T146S	probably benign	Het
Olfr677	A	G	7: 105,056,362	T39A	probably benign	Het
Pakap	T	A	4: 57,854,663	D58E	probably damaging	Het
Pin1	G	A	9: 20,663,235	G150E	probably benign	Het
R3hdm2	T	C	10: 127,465,019		probably null	Het
Rai1	C	A	11: 60,193,956	H1843Q	probably benign	Het
Siae	G	T	9: 37,631,384	A194S	probably damaging	Het
Stil	T	G	4: 115,041,495	S1107R	probably damaging	Het
Syt16	T	C	12: 74,129,411	V18A	possibly damaging	Het
Trpm8	A	G	1: 88,348,051	D457G	probably damaging	Het
Tshr	A	T	12: 91,493,329	T66S	possibly damaging	Het
Ttn	T	A	2: 76,707,295	Q34763L	probably benign	Het
Ubr2	T	A	17: 46,963,765	M830L	probably benign	Het
Ulk1	A	G	5: 110,793,052	F337S	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
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
R4515:Slc6a12	UTSW	6	121353530	critical splice donor 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

Posted On

2015-04-16