Mutagenetix > Incidental Mutation

Incidental Mutation 'R0492:Slc6a12'

42548

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

038690-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0492 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121320035-121342734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121332331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 222 (I222F)

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

probably benign
Transcript: ENSMUST00000032200
AA Change: I236F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000032200
Gene: ENSMUSG00000030109
AA Change: I236F

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 benign
Transcript: ENSMUST00000166457
AA Change: I222F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126937
Gene: ENSMUSG00000030109
AA Change: I222F

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: I222F

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000126708
Gene: ENSMUSG00000030109
AA Change: I222F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171874

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

99% (99/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Adgre1	A	G	17: 57,709,742 (GRCm39)	D133G	unknown	Het
Alpl	A	C	4: 137,476,887 (GRCm39)		probably null	Het
Ankrd65	T	C	4: 155,875,133 (GRCm39)		probably benign	Het
Baalc	A	T	15: 38,797,480 (GRCm39)		probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Bud31	A	G	5: 145,083,265 (GRCm39)	Y77C	probably damaging	Het
Calhm6	G	A	10: 34,003,647 (GRCm39)	R87*	probably null	Het
Capsl	A	G	15: 9,461,930 (GRCm39)		probably benign	Het
Ccna1	A	G	3: 54,956,004 (GRCm39)	V116A	probably damaging	Het
Cdc42bpa	C	A	1: 179,928,755 (GRCm39)	H723N	probably benign	Het
Cfap161	T	C	7: 83,443,245 (GRCm39)	I40V	possibly damaging	Het
CK137956	C	T	4: 127,845,093 (GRCm39)	V217I	probably benign	Het
Cog5	A	G	12: 31,919,460 (GRCm39)	T540A	probably damaging	Het
Cps1	T	C	1: 67,196,995 (GRCm39)	W349R	probably damaging	Het
Crispld2	G	T	8: 120,752,806 (GRCm39)	V285L	probably benign	Het
Crtc2	T	A	3: 90,170,804 (GRCm39)	F626I	probably damaging	Het
Daam1	G	A	12: 71,991,154 (GRCm39)	R256H	unknown	Het
Dhx38	G	T	8: 110,288,576 (GRCm39)		probably benign	Het
Dok4	G	A	8: 95,591,764 (GRCm39)	A324V	probably benign	Het
Dscam	T	C	16: 96,626,982 (GRCm39)		probably null	Het
Dusp16	A	T	6: 134,695,365 (GRCm39)	S489T	probably benign	Het
Ecpas	A	G	4: 58,864,418 (GRCm39)	W288R	probably damaging	Het
Erbin	A	T	13: 103,970,866 (GRCm39)	Y917N	probably damaging	Het
F13b	A	T	1: 139,450,297 (GRCm39)		probably null	Het
Fdx1	C	A	9: 51,874,725 (GRCm39)	A15S	probably benign	Het
Ffar4	A	T	19: 38,085,630 (GRCm39)	Q19L	probably benign	Het
Folh1	A	C	7: 86,395,400 (GRCm39)	V344G	probably damaging	Het
Fscb	T	A	12: 64,520,292 (GRCm39)	E391D	possibly damaging	Het
Gigyf2	G	A	1: 87,368,568 (GRCm39)	G1083R	probably damaging	Het
Gm14403	C	A	2: 177,200,359 (GRCm39)	H102N	probably benign	Het
Gm4847	A	G	1: 166,457,961 (GRCm39)	F464S	probably damaging	Het
Gpam	A	T	19: 55,084,611 (GRCm39)	M56K	possibly damaging	Het
Gpr165	T	A	X: 95,760,778 (GRCm39)	F352I	probably damaging	Het
Grik2	T	G	10: 48,977,260 (GRCm39)	I891L	probably damaging	Het
Gsr	T	C	8: 34,171,603 (GRCm39)		probably benign	Het
Hhla1	A	G	15: 65,808,140 (GRCm39)	F302L	probably benign	Het
Impg1	T	C	9: 80,252,590 (GRCm39)	D453G	possibly damaging	Het
Inpp5d	T	A	1: 87,625,872 (GRCm39)	V495E	possibly damaging	Het
Iqca1l	A	T	5: 24,759,626 (GRCm39)	L48Q	probably damaging	Het
Iqce	A	T	5: 140,660,990 (GRCm39)	L450H	probably damaging	Het
Itfg2	A	G	6: 128,390,486 (GRCm39)		probably null	Het
Kif13a	A	G	13: 46,966,218 (GRCm39)	V400A	possibly damaging	Het
Kif7	T	C	7: 79,363,629 (GRCm39)	Y93C	probably damaging	Het
Krt33a	A	G	11: 99,906,909 (GRCm39)	V22A	probably benign	Het
Lct	T	C	1: 128,228,319 (GRCm39)	D1058G	probably damaging	Het
Lrp6	G	T	6: 134,457,481 (GRCm39)	D774E	possibly damaging	Het
Lrrc9	T	A	12: 72,525,537 (GRCm39)	S828R	possibly damaging	Het
Ly75	A	G	2: 60,138,620 (GRCm39)	W1416R	probably damaging	Het
Mdh2	T	C	5: 135,819,004 (GRCm39)	I320T	possibly damaging	Het
Med13l	T	A	5: 118,876,560 (GRCm39)	V912E	probably damaging	Het
Mgarp	T	C	3: 51,296,456 (GRCm39)	D182G	possibly damaging	Het
Mllt10	T	C	2: 18,151,698 (GRCm39)		probably benign	Het
Mmp28	G	A	11: 83,334,629 (GRCm39)	A375V	probably damaging	Het
Mrps23	T	A	11: 88,101,511 (GRCm39)	H133Q	probably benign	Het
Msh6	T	C	17: 88,282,679 (GRCm39)	S35P	probably benign	Het
Myo3a	A	G	2: 22,328,447 (GRCm39)	D347G	possibly damaging	Het
Npc1l1	T	C	11: 6,173,040 (GRCm39)	K800E	possibly damaging	Het
Or2ag13	A	T	7: 106,473,084 (GRCm39)	Y123N	probably damaging	Het
Or51ai2	T	C	7: 103,586,971 (GRCm39)	I128T	probably benign	Het
Or5i1	T	G	2: 87,613,166 (GRCm39)	I94S	probably damaging	Het
Or5m9	T	C	2: 85,876,931 (GRCm39)	V35A	probably benign	Het
Or5m9	T	C	2: 85,877,278 (GRCm39)	F151L	possibly damaging	Het
Or5t7	G	A	2: 86,506,834 (GRCm39)	P281L	probably damaging	Het
Or6p1	T	A	1: 174,258,129 (GRCm39)	I45N	possibly damaging	Het
Osmr	A	C	15: 6,853,999 (GRCm39)	W570G	probably damaging	Het
Otol1	A	T	3: 69,935,117 (GRCm39)	I370F	probably damaging	Het
Pank2	A	G	2: 131,122,180 (GRCm39)	Y235C	probably damaging	Het
Pias2	T	C	18: 77,193,581 (GRCm39)	S187P	probably damaging	Het
Pkhd1l1	A	G	15: 44,383,086 (GRCm39)	N1115S	probably benign	Het
Pld1	G	T	3: 28,163,966 (GRCm39)	A800S	probably damaging	Het
Prex2	T	C	1: 11,256,857 (GRCm39)		probably benign	Het
Ptpn3	T	C	4: 57,194,304 (GRCm39)	Q908R	probably benign	Het
Rab3gap2	T	A	1: 184,984,589 (GRCm39)		probably benign	Het
Rbm24	A	T	13: 46,573,826 (GRCm39)	N82Y	probably damaging	Het
Rpl27	T	C	11: 101,336,081 (GRCm39)	V47A	possibly damaging	Het
Serpina1f	A	G	12: 103,659,826 (GRCm39)	V152A	possibly damaging	Het
Serpina5	A	G	12: 104,068,392 (GRCm39)	Y151C	probably damaging	Het
Serpinb7	A	G	1: 107,379,737 (GRCm39)	*381W	probably null	Het
Sh2b2	A	G	5: 136,261,117 (GRCm39)	F33S	probably damaging	Het
Slc22a2	A	C	17: 12,834,159 (GRCm39)	I476L	probably benign	Het
Smim26	G	A	2: 144,437,033 (GRCm39)	D61N	probably damaging	Het
Soat1	A	T	1: 156,268,924 (GRCm39)	Y209N	probably benign	Het
Sorl1	T	C	9: 41,902,667 (GRCm39)	H1630R	probably null	Het
Sptlc2	A	T	12: 87,393,580 (GRCm39)		probably null	Het
Strn3	G	A	12: 51,657,187 (GRCm39)	T642I	probably damaging	Het
Syce1l	T	A	8: 114,380,700 (GRCm39)	D137E	possibly damaging	Het
Syne2	T	C	12: 76,028,837 (GRCm39)		probably null	Het
Tcf25	C	A	8: 124,108,203 (GRCm39)	P86Q	probably benign	Het
Tmem19	A	T	10: 115,197,715 (GRCm39)	Y43*	probably null	Het
Tmem30b	T	C	12: 73,592,942 (GRCm39)	N58D	probably benign	Het
Tnn	A	C	1: 159,948,327 (GRCm39)	I795M	probably damaging	Het
Tnpo1	A	G	13: 98,991,954 (GRCm39)	Y641H	probably damaging	Het
Tra2a	A	T	6: 49,227,889 (GRCm39)		probably benign	Het
Trappc8	A	T	18: 20,999,243 (GRCm39)	F295I	probably benign	Het
Vmn2r101	T	A	17: 19,809,245 (GRCm39)	W125R	probably damaging	Het
Vps8	C	A	16: 21,261,107 (GRCm39)	F82L	probably damaging	Het
Ythdf2	A	T	4: 131,931,779 (GRCm39)	S460R	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
R0532:Slc6a12	UTSW	6	121,333,877 (GRCm39)	missense	probably damaging	1.00
R0550: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'- GTGACAGGCAGATTGTGCCCTATG -3'
(R):5'- TGATGCCCATCTTGGCTTAAACCC -3'

Sequencing Primer
(F):5'- ATTACATCGGGCATCCACGA -3'
(R):5'- GGCTTGGAAACCAATGAGTTCTC -3'

Posted On

2013-05-23