Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Slc6a12'

45085

Institutional Source

Beutler Lab

Gene Symbol

Slc6a12

Ensembl Gene

ENSMUSG00000030109

Gene Name

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

Synonyms

Gabt2, BGT1

MMRRC Submission

038742-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0550 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121320035-121342734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121333877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 238 (V238I)

Ref Sequence

ENSEMBL: ENSMUSP00000126937 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032200
AA Change: V252I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109
AA Change: V252I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163771
AA Change: V1I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127779
Gene: ENSMUSG00000030109
AA Change: V1I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165456
AA Change: V1I

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130715
Gene: ENSMUSG00000030109
AA Change: V1I

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 damaging
Transcript: ENSMUST00000166457
AA Change: V238I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109
AA Change: V238I

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 damaging
Transcript: ENSMUST00000171008
AA Change: V238I

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

SMART Domains

Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109
AA Change: V238I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171874

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,666 (GRCm39)	Y947N	probably damaging	Het
Acss3	C	A	10: 106,889,332 (GRCm39)	G163C	probably damaging	Het
Adcy10	A	G	1: 165,392,884 (GRCm39)	T1367A	probably benign	Het
Adcy2	A	T	13: 69,130,480 (GRCm39)	S136T	probably benign	Het
Ahdc1	G	A	4: 132,790,348 (GRCm39)	V530I	probably benign	Het
Aldh16a1	C	T	7: 44,795,653 (GRCm39)		probably null	Het
Ankrd36	T	C	11: 5,557,429 (GRCm39)		probably null	Het
Aqr	A	C	2: 113,963,457 (GRCm39)	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,683,173 (GRCm39)		probably benign	Het
Atp8b2	C	T	3: 89,866,368 (GRCm39)		probably benign	Het
Bbx	T	C	16: 50,094,896 (GRCm39)		probably benign	Het
Bmper	T	A	9: 23,285,181 (GRCm39)	D243E	probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 149,036,741 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,970,427 (GRCm39)		probably null	Het
Ccdc92b	T	A	11: 74,520,771 (GRCm39)		probably null	Het
Cd2bp2	G	T	7: 126,792,996 (GRCm39)	T342K	probably damaging	Het
Clrn3	T	A	7: 135,130,154 (GRCm39)	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,234,042 (GRCm39)		probably null	Het
Cntnap3	T	C	13: 64,909,814 (GRCm39)	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,308 (GRCm39)	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,941,457 (GRCm39)	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753 (GRCm39)	S389P	probably benign	Het
Ddx18	T	C	1: 121,483,104 (GRCm39)	K561E	probably benign	Het
Dkk3	A	G	7: 111,757,452 (GRCm39)	F51L	probably damaging	Het
Dnai1	C	T	4: 41,596,274 (GRCm39)	R20*	probably null	Het
Dr1	G	A	5: 108,417,471 (GRCm39)	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,961,067 (GRCm39)	Y16C	probably damaging	Het
Epb41	A	G	4: 131,702,924 (GRCm39)	I464T	probably damaging	Het
Erc2	A	G	14: 27,993,608 (GRCm39)	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,305,429 (GRCm39)	D315G	probably damaging	Het
Fads6	A	G	11: 115,187,503 (GRCm39)	I64T	probably benign	Het
Fshr	T	C	17: 89,352,553 (GRCm39)	N107S	probably benign	Het
Gbp11	A	T	5: 105,491,616 (GRCm39)	N60K	probably benign	Het
Gm2a	C	T	11: 54,994,491 (GRCm39)	Q54*	probably null	Het
Hydin	A	G	8: 111,314,407 (GRCm39)	D4297G	probably benign	Het
Il6st	G	A	13: 112,611,648 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,723,966 (GRCm39)	H499Q	probably benign	Het
Kif5c	A	G	2: 49,648,924 (GRCm39)	K956R	possibly damaging	Het
Krt74	G	A	15: 101,669,114 (GRCm39)		noncoding transcript	Het
Map3k9	A	T	12: 81,772,555 (GRCm39)	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479 (GRCm39)	D2871G	probably benign	Het
Mylk4	T	C	13: 32,900,649 (GRCm39)	T294A	probably benign	Het
Nbeal2	C	T	9: 110,471,226 (GRCm39)	V252I	probably benign	Het
Nectin3	A	G	16: 46,279,183 (GRCm39)	I265T	possibly damaging	Het
Opn1sw	A	T	6: 29,380,203 (GRCm39)	L71Q	probably damaging	Het
Or4c12	A	G	2: 89,773,733 (GRCm39)	I242T	probably damaging	Het
Or52m1	G	A	7: 102,290,157 (GRCm39)	E235K	possibly damaging	Het
Or5aq6	G	T	2: 86,923,473 (GRCm39)	H89Q	probably benign	Het
Or5b97	A	T	19: 12,879,164 (GRCm39)		probably null	Het
Or5k17	A	G	16: 58,746,748 (GRCm39)	F62S	probably damaging	Het
Or8b46	T	A	9: 38,450,676 (GRCm39)	C162S	probably damaging	Het
Or8k27	A	T	2: 86,276,220 (GRCm39)	Y35*	probably null	Het
Pced1a	G	A	2: 130,261,553 (GRCm39)	P367S	probably benign	Het
Pkhd1	A	T	1: 20,417,447 (GRCm39)	M2568K	probably null	Het
Pla2r1	A	G	2: 60,255,694 (GRCm39)		probably null	Het
Plpp1	T	C	13: 112,971,519 (GRCm39)	I62T	probably benign	Het
Polr3g	G	A	13: 81,842,892 (GRCm39)	T41I	probably damaging	Het
Ptch2	T	C	4: 116,953,630 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,104 (GRCm39)	H315L	probably benign	Het
Setd1b	G	T	5: 123,295,723 (GRCm39)	S1097I	unknown	Het
Sfxn4	A	G	19: 60,839,383 (GRCm39)		probably benign	Het
Sh3tc1	T	C	5: 35,857,128 (GRCm39)	E1237G	probably damaging	Het
Slc25a38	A	T	9: 119,952,709 (GRCm39)	N287I	probably benign	Het
Slc25a48	A	G	13: 56,596,811 (GRCm39)	T31A	probably benign	Het
Slc8b1	A	G	5: 120,669,220 (GRCm39)		probably benign	Het
Slco4c1	A	C	1: 96,795,584 (GRCm39)	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,063,803 (GRCm39)	T2208A	probably benign	Het
Srebf1	G	A	11: 60,092,502 (GRCm39)	T843I	probably benign	Het
Srl	A	G	16: 4,305,429 (GRCm39)	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,484,031 (GRCm39)	C76*	probably null	Het
Tdrd3	C	A	14: 87,723,656 (GRCm39)	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trpm3	A	G	19: 22,965,176 (GRCm39)	E1547G	probably damaging	Het
Ubn1	A	G	16: 4,880,484 (GRCm39)		probably null	Het
Usp10	T	A	8: 120,674,540 (GRCm39)	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,405,134 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,222 (GRCm39)	V443E	possibly damaging	Het
Whamm	G	A	7: 81,235,972 (GRCm39)	V392I	possibly damaging	Het
Zfhx4	A	G	3: 5,465,554 (GRCm39)	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,112,927 (GRCm39)	T356S	probably damaging	Het

Other mutations in Slc6a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Slc6a12	APN	6	121,337,414 (GRCm39)	missense	probably damaging	1.00
IGL02066:Slc6a12	APN	6	121,329,015 (GRCm39)	missense	probably damaging	0.97
IGL02146:Slc6a12	APN	6	121,330,460 (GRCm39)	missense	probably benign	0.01
IGL02475:Slc6a12	APN	6	121,331,334 (GRCm39)	splice site	probably null
IGL02498:Slc6a12	APN	6	121,338,029 (GRCm39)	missense	probably benign
IGL02537:Slc6a12	APN	6	121,337,473 (GRCm39)	missense	probably benign	0.00
IGL02696:Slc6a12	APN	6	121,340,211 (GRCm39)	missense	probably benign	0.00
IGL03255:Slc6a12	APN	6	121,331,246 (GRCm39)	missense	probably damaging	0.99
IGL03397:Slc6a12	APN	6	121,334,004 (GRCm39)	missense	probably damaging	1.00
R0050:Slc6a12	UTSW	6	121,337,378 (GRCm39)	splice site	probably benign
R0050:Slc6a12	UTSW	6	121,337,378 (GRCm39)	splice site	probably benign
R0201:Slc6a12	UTSW	6	121,332,331 (GRCm39)	missense	probably benign	0.03
R0255:Slc6a12	UTSW	6	121,333,877 (GRCm39)	missense	probably damaging	1.00
R0302:Slc6a12	UTSW	6	121,340,218 (GRCm39)	missense	probably damaging	1.00
R0317:Slc6a12	UTSW	6	121,335,584 (GRCm39)	missense	possibly damaging	0.80
R0394:Slc6a12	UTSW	6	121,323,957 (GRCm39)	critical splice donor site	probably null
R0492:Slc6a12	UTSW	6	121,332,331 (GRCm39)	missense	probably benign	0.03
R0532:Slc6a12	UTSW	6	121,333,877 (GRCm39)	missense	probably damaging	1.00
R0551:Slc6a12	UTSW	6	121,333,877 (GRCm39)	missense	probably damaging	1.00
R1421:Slc6a12	UTSW	6	121,336,085 (GRCm39)	missense	probably damaging	1.00
R1487:Slc6a12	UTSW	6	121,340,716 (GRCm39)	nonsense	probably null
R1879:Slc6a12	UTSW	6	121,324,382 (GRCm39)	missense	probably damaging	1.00
R1905:Slc6a12	UTSW	6	121,324,402 (GRCm39)	nonsense	probably null
R1925:Slc6a12	UTSW	6	121,337,485 (GRCm39)	missense	probably benign	0.44
R3944:Slc6a12	UTSW	6	121,331,239 (GRCm39)	critical splice acceptor site	probably null
R4515:Slc6a12	UTSW	6	121,330,489 (GRCm39)	critical splice donor site	probably null
R4559:Slc6a12	UTSW	6	121,340,820 (GRCm39)	splice site	probably null
R4628:Slc6a12	UTSW	6	121,328,951 (GRCm39)	nonsense	probably null
R4665:Slc6a12	UTSW	6	121,335,972 (GRCm39)	splice site	probably benign
R4753:Slc6a12	UTSW	6	121,333,862 (GRCm39)	splice site	probably benign
R4948:Slc6a12	UTSW	6	121,332,281 (GRCm39)	missense	probably benign	0.35
R5517:Slc6a12	UTSW	6	121,331,298 (GRCm39)	missense	probably benign	0.10
R6717:Slc6a12	UTSW	6	121,331,262 (GRCm39)	missense	probably benign	0.01
R7139:Slc6a12	UTSW	6	121,342,278 (GRCm39)	missense	probably benign
R7318:Slc6a12	UTSW	6	121,328,978 (GRCm39)	missense	probably benign	0.26
R7318:Slc6a12	UTSW	6	121,328,972 (GRCm39)	missense	probably damaging	0.99
R8310:Slc6a12	UTSW	6	121,340,250 (GRCm39)	missense	probably damaging	1.00
R8703:Slc6a12	UTSW	6	121,324,447 (GRCm39)	missense	probably benign
R9218:Slc6a12	UTSW	6	121,335,623 (GRCm39)	missense	probably damaging	1.00
R9648:Slc6a12	UTSW	6	121,335,661 (GRCm39)	nonsense	probably null
R9682:Slc6a12	UTSW	6	121,340,704 (GRCm39)	missense	probably benign
Z1176:Slc6a12	UTSW	6	121,340,786 (GRCm39)	missense	probably benign
Z1177:Slc6a12	UTSW	6	121,342,231 (GRCm39)	missense	probably benign	0.02
Z1177:Slc6a12	UTSW	6	121,333,926 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCACACTCTGCTGGGGAGTAAGAC -3'
(R):5'- AGTTCACAACACCCTTGTGGTGC -3'

Sequencing Primer
(F):5'- GGAAAGTTTCATACGCTCGC -3'
(R):5'- CTTGTGGTGCCCACCTG -3'

Posted On

2013-06-11