Mutagenetix > Incidental Mutation

Incidental Mutation 'R0317:Slc6a12'

25448

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

038527-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121343076-121365775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121358625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 291 (I291V)

Ref Sequence

ENSEMBL: ENSMUSP00000126708 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032200
AA Change: I305V

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109
AA Change: I305V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163771
AA Change: I54V

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127779
Gene: ENSMUSG00000030109
AA Change: I54V

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

possibly damaging
Transcript: ENSMUST00000166457
AA Change: I291V

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109
AA Change: I291V

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

possibly damaging
Transcript: ENSMUST00000171008
AA Change: I291V

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109
AA Change: I291V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171874

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,293,459	V1774A	probably damaging	Het
Adam34	G	A	8: 43,652,251	P119L	probably benign	Het
Ap3b2	T	C	7: 81,463,681		probably null	Het
Arfip2	G	A	7: 105,637,223	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,423,544	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,172,697		probably null	Het
Cab39	A	G	1: 85,849,160	E322G	probably damaging	Het
Cad	C	A	5: 31,072,321	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,706,901		probably null	Het
Cela2a	A	T	4: 141,821,700		probably null	Het
Ces1e	A	C	8: 93,224,039	I38S	probably benign	Het
Ces1f	A	T	8: 93,263,391	F364I	probably benign	Het
Chgb	A	G	2: 132,793,811	T558A	probably benign	Het
Cnpy4	C	T	5: 138,192,812	Q217*	probably null	Het
Col4a3bp	C	T	13: 96,634,121	R487*	probably null	Het
Crlf1	A	G	8: 70,498,599	T43A	probably benign	Het
Dnah7b	T	A	1: 46,134,656	M707K	probably damaging	Het
Ets2	G	A	16: 95,712,149	S123N	probably damaging	Het
Fam196b	C	A	11: 34,402,826	D289E	possibly damaging	Het
Fry	T	C	5: 150,471,468	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,116	R120H	probably benign	Het
Gbf1	A	G	19: 46,254,020	T96A	probably benign	Het
Ggn	T	A	7: 29,171,090	M1K	probably null	Het
Gm5239	A	G	18: 35,536,916	T112A	probably benign	Het
Kif1bp	A	T	10: 62,578,082		probably null	Het
Lrrc15	A	T	16: 30,273,743	H259Q	probably benign	Het
Lysmd4	A	G	7: 67,226,297	Y236C	probably damaging	Het
Med29	T	C	7: 28,386,859	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,357,799	D68Y	probably damaging	Het
Myh1	T	C	11: 67,217,512	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,551,931		probably null	Het
Olfr948	A	G	9: 39,319,461	I51T	probably benign	Het
Pdhx	A	G	2: 103,028,280	V393A	probably benign	Het
Pgm5	A	G	19: 24,824,399	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,022	I889F	probably benign	Het
Phactr4	T	A	4: 132,386,930	K51I	probably damaging	Het
Pum2	T	A	12: 8,728,754	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,725,553	S24P	probably damaging	Het
Rasef	T	C	4: 73,748,562	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,087,144	D339G	probably benign	Het
Recql5	A	G	11: 115,894,673	S666P	probably benign	Het
Rfc1	A	T	5: 65,296,052		probably null	Het
Scarb1	A	G	5: 125,289,692	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,946,356	V85M	probably damaging	Het
Slco3a1	A	C	7: 74,504,426	Y104D	probably damaging	Het
Suz12	T	A	11: 79,999,078	D13E	probably damaging	Het
Tlr1	G	T	5: 64,925,967	C422*	probably null	Het
Tmco1	T	C	1: 167,325,893	V114A	probably damaging	Het
Trpa1	T	C	1: 14,881,632	T948A	probably benign	Het
Tub	A	T	7: 109,020,927	N93Y	probably damaging	Het
Ufsp2	G	A	8: 45,992,233		probably null	Het
Veph1	T	C	3: 66,171,975	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,620,960	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 64,081,819	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,851,583	S480G	probably benign	Het
Wnk4	T	C	11: 101,268,804	S612P	probably benign	Het
Zfp503	T	C	14: 21,986,459	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602	C628Y	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TGCCACCTGCGAATGAAATAGTCC -3'
(R):5'- GTGATATGGCACAGGCAACACAAAC -3'

Sequencing Primer
(F):5'- AAACAGGCCCTGCTTATGG -3'
(R):5'- AACACCAGATGTCAGGGC -3'

Posted On

2013-04-16