Mutagenetix > Incidental Mutation

Incidental Mutation 'R8177:Slc6a13'

634407

Institutional Source

Beutler Lab

Gene Symbol

Slc6a13

Ensembl Gene

ENSMUSG00000030108

Gene Name

solute carrier family 6 (neurotransmitter transporter, GABA), member 13

Synonyms

Gat2, Gabt3

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R8177 (G1)

Quality Score

177.009

Status

Not validated

Chromosome

Chromosomal Location

121300227-121337733 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 121325028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 190 (R190*)

Ref Sequence

ENSEMBL: ENSMUSP00000066779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064580] [ENSMUST00000142419]

AlphaFold

P31649

Predicted Effect

probably null
Transcript: ENSMUST00000064580
AA Change: R190*

SMART Domains

Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108
AA Change: R190*

Domain	Start	End	E-Value	Type
Pfam:SNF	32	556	6.2e-252	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142419

SMART Domains

Protein: ENSMUSP00000120689
Gene: ENSMUSG00000030108

Domain	Start	End	E-Value	Type
Pfam:SNF	43	192	4e-78	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced taurine levels in the liver and increased taurine levels in the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,564	Y127*	probably null	Het
Abcb5	C	T	12: 118,872,790	V1129I	possibly damaging	Het
Abcc2	A	G	19: 43,807,080	D425G	probably damaging	Het
Adamts15	T	A	9: 30,922,026	D71V	probably damaging	Het
Add1	A	G	5: 34,616,705	H435R	possibly damaging	Het
AI464131	G	T	4: 41,497,568	Y687*	probably null	Het
Akr1c19	A	G	13: 4,242,592	N204S	probably benign	Het
Ankub1	C	A	3: 57,690,416	R44S	possibly damaging	Het
Ano3	T	A	2: 110,666,456	N783Y	probably damaging	Het
Bbs9	A	G	9: 22,514,063	M138V	probably benign	Het
Ccdc18	G	A	5: 108,197,795	E936K	possibly damaging	Het
Cit	T	G	5: 115,988,159	L1604V	probably benign	Het
Col2a1	T	A	15: 97,976,773	S1396C	unknown	Het
Col3a1	G	C	1: 45,335,764	G653R	unknown	Het
Col6a1	T	C	10: 76,725,029	E45G	probably damaging	Het
Col9a3	T	A	2: 180,607,657	F271I	probably damaging	Het
Cyp2g1	C	A	7: 26,819,153	D364E	probably damaging	Het
Dmbt1	T	A	7: 131,106,432	V1457D	possibly damaging	Het
Dnah17	A	T	11: 118,128,927	I98N	possibly damaging	Het
Dyrk1b	T	A	7: 28,183,176	M222K	possibly damaging	Het
Epha8	T	C	4: 136,945,663	D270G	probably benign	Het
Fbxw17	T	C	13: 50,425,624	L159P	probably damaging	Het
Fgl2	G	A	5: 21,373,309		probably null	Het
Fmnl1	A	T	11: 103,189,959	M309L	probably damaging	Het
Fn1	T	C	1: 71,609,587	I1479V	probably benign	Het
Gm11939	A	T	11: 99,559,298	S57T	possibly damaging	Het
Gm5415	T	C	1: 32,546,376	E151G	probably benign	Het
Gm9195	C	T	14: 72,460,537	A1268T	possibly damaging	Het
Gnpda1	A	G	18: 38,333,295	W90R	possibly damaging	Het
Igkv5-43	T	A	6: 69,823,461	R81W	probably damaging	Het
Mapk3	T	A	7: 126,763,765	W230R	probably null	Het
Mplkip	A	G	13: 17,695,620	S46G	probably benign	Het
Mrs2	T	C	13: 25,004,978	T118A	probably benign	Het
Mst1r	T	A	9: 107,907,585	H147Q	probably damaging	Het
Muc5ac	G	C	7: 141,807,331	G1460R	probably damaging	Het
Naip1	T	C	13: 100,427,403	H418R	probably benign	Het
Ncapg	A	G	5: 45,693,753	T763A	probably benign	Het
Nr6a1	T	C	2: 38,729,498	I462V	probably benign	Het
Nudcd3	T	C	11: 6,193,460	D70G	possibly damaging	Het
Nup210	A	G	6: 91,014,488	S1858P	probably benign	Het
Olfr1080	T	A	2: 86,553,279	I282F	noncoding transcript	Het
Olfr1110	C	A	2: 87,135,950	V124L	possibly damaging	Het
Olfr1148	T	A	2: 87,833,168	I43N	probably benign	Het
Olfr2	G	C	7: 107,001,456	L135V	probably damaging	Het
Olfr775	A	G	10: 129,250,921	H129R	probably benign	Het
Pde4dip	T	C	3: 97,767,532	T23A	probably damaging	Het
Pex6	A	G	17: 46,714,062	Q347R	probably benign	Het
Rbm27	A	G	18: 42,324,110	K694R	probably damaging	Het
Rnf40	T	G	7: 127,596,150	D549E	probably benign	Het
Rpl22	A	G	4: 152,327,511	K15E	probably damaging	Het
Rsph6a	T	A	7: 19,074,239	D697E	unknown	Het
Sec23b	C	T	2: 144,585,623	P590L	probably benign	Het
Slc17a7	T	A	7: 45,174,932	M524K	probably benign	Het
Slc28a1	G	A	7: 81,164,416	D454N	probably benign	Het
Slc7a9	G	A	7: 35,456,133	V257I	probably benign	Het
Slco1a6	T	A	6: 142,101,734	M377L	probably damaging	Het
Slit3	A	G	11: 35,579,092	E307G	probably damaging	Het
Smchd1	A	G	17: 71,390,453	M1164T	probably benign	Het
Stk4	T	C	2: 164,088,857	I126T	probably damaging	Het
Syndig1	A	T	2: 149,899,868	S125C	probably damaging	Het
Synm	T	C	7: 67,734,065	D1283G	probably benign	Het
Tmprss6	T	C	15: 78,465,127	M73V	probably benign	Het
Tmprss9	A	G	10: 80,895,048	I803V	probably benign	Het
Tmx4	A	T	2: 134,643,902	V35E	probably damaging	Het
Topbp1	T	G	9: 103,320,541	S440A	probably benign	Het
Twf1	T	C	15: 94,584,395	I157V	possibly damaging	Het
Vmn1r205	T	C	13: 22,592,245	N229S	probably benign	Het
Vmn1r27	T	A	6: 58,215,774	I82L	probably benign	Het
Vmn2r112	A	G	17: 22,603,613	N424S	possibly damaging	Het
Vmn2r68	A	T	7: 85,222,214	Y620*	probably null	Het
Zfp51	A	G	17: 21,463,867	D248G	probably benign	Het

Other mutations in Slc6a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Slc6a13	APN	6	121321641	missense	probably damaging	1.00
IGL01947:Slc6a13	APN	6	121325157	critical splice donor site	probably null
IGL01969:Slc6a13	APN	6	121335642	missense	probably damaging	1.00
IGL02546:Slc6a13	APN	6	121333364	missense	probably benign
IGL02988:Slc6a13	APN	6	121326107	unclassified	probably benign
IGL03093:Slc6a13	APN	6	121332448	missense	probably damaging	1.00
IGL03358:Slc6a13	APN	6	121334536	missense	probably benign
IGL03384:Slc6a13	APN	6	121332391	missense	probably damaging	1.00
ANU74:Slc6a13	UTSW	6	121334876	missense	probably benign	0.42
R0217:Slc6a13	UTSW	6	121324320	missense	probably damaging	0.99
R0230:Slc6a13	UTSW	6	121324303	missense	probably benign	0.03
R0744:Slc6a13	UTSW	6	121302867	missense	probably damaging	1.00
R1546:Slc6a13	UTSW	6	121332374	missense	possibly damaging	0.78
R1604:Slc6a13	UTSW	6	121332369	missense	probably benign	0.02
R1654:Slc6a13	UTSW	6	121336926	missense	probably benign
R1781:Slc6a13	UTSW	6	121334852	missense	probably damaging	0.99
R1978:Slc6a13	UTSW	6	121332373	missense	probably damaging	1.00
R2130:Slc6a13	UTSW	6	121325041	missense	possibly damaging	0.77
R4570:Slc6a13	UTSW	6	121336142	critical splice donor site	probably null
R4623:Slc6a13	UTSW	6	121325145	missense	probably damaging	0.99
R4755:Slc6a13	UTSW	6	121325049	missense	probably damaging	1.00
R5068:Slc6a13	UTSW	6	121333342	missense	probably damaging	0.99
R5485:Slc6a13	UTSW	6	121336073	missense	probably damaging	1.00
R5687:Slc6a13	UTSW	6	121302741	missense	probably benign	0.00
R6045:Slc6a13	UTSW	6	121321628	missense	probably damaging	1.00
R6235:Slc6a13	UTSW	6	121302794	missense	probably benign	0.02
R6338:Slc6a13	UTSW	6	121334839	missense	probably damaging	0.96
R6393:Slc6a13	UTSW	6	121336842	missense	possibly damaging	0.83
R6844:Slc6a13	UTSW	6	121325053	missense	probably damaging	0.99
R7379:Slc6a13	UTSW	6	121336839	nonsense	probably null
R7734:Slc6a13	UTSW	6	121337375	missense	probably benign	0.00
R7800:Slc6a13	UTSW	6	121321699	missense	probably damaging	0.98
R7862:Slc6a13	UTSW	6	121335630	missense	probably damaging	1.00
R7935:Slc6a13	UTSW	6	121334491	missense	possibly damaging	0.46
R8324:Slc6a13	UTSW	6	121337414	makesense	probably null
R8457:Slc6a13	UTSW	6	121326104	splice site	probably null
R8992:Slc6a13	UTSW	6	121336942	nonsense	probably null
R8995:Slc6a13	UTSW	6	121325053	missense	probably damaging	1.00
R9104:Slc6a13	UTSW	6	121336085	missense	probably benign
R9168:Slc6a13	UTSW	6	121325083	missense	probably damaging	1.00
R9235:Slc6a13	UTSW	6	121325025	missense	probably damaging	0.98
R9242:Slc6a13	UTSW	6	121318269	missense	probably damaging	0.99
RF020:Slc6a13	UTSW	6	121324351	critical splice donor site	probably null
Z1177:Slc6a13	UTSW	6	121334503	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- ACGTTCATAGCCCTGGGTTC -3'
(R):5'- GGAAGGAAGCCACATGAACTCC -3'

Sequencing Primer
(F):5'- GGGTTCTAACCCTTACACAG -3'
(R):5'- TGCCTGGACCAGCCTAAAG -3'

Posted On

2020-07-13