Mutagenetix > Incidental Mutation

Incidental Mutation 'R8457:Slc6a13'

655063

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: 0.760) question?

Stock #

R8457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121300227-121337733 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 121326104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066779 (fasta)

Gene Model

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

AlphaFold

P31649

Predicted Effect

probably null
Transcript: ENSMUST00000064580

SMART Domains

Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108

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

Predicted Effect

probably null
Transcript: ENSMUST00000064580

SMART Domains

Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108

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

Predicted Effect

probably null
Transcript: ENSMUST00000064580

SMART Domains

Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108

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

Predicted Effect

probably null
Transcript: ENSMUST00000064580

SMART Domains

Protein: ENSMUSP00000066779
Gene: ENSMUSG00000030108

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: 99.7%
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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,140,112	L813Q	probably damaging	Het
Alpk3	A	G	7: 81,093,318	N961S	probably damaging	Het
Arhgap42	A	T	9: 9,016,220	S403T	probably benign	Het
Cdkl1	T	C	12: 69,747,338	T342A	probably benign	Het
Chd2	T	C	7: 73,447,237	E1497G	probably damaging	Het
Cldn11	T	C	3: 31,163,193	V170A	probably benign	Het
Cps1	T	A	1: 67,156,854	F291I	probably damaging	Het
Cpsf2	T	A	12: 102,002,670	S722T	probably damaging	Het
Creld1	T	C	6: 113,491,738		probably null	Het
Dgki	T	A	6: 36,850,956	E1002V	possibly damaging	Het
Disp3	T	A	4: 148,261,115	I423F	possibly damaging	Het
Dysf	T	C	6: 84,188,245	V1601A	probably benign	Het
E4f1	G	A	17: 24,446,527	A347V	probably benign	Het
Epb41l1	G	A	2: 156,525,251	R680Q	probably benign	Het
Fcrl5	T	G	3: 87,444,260	S272A	probably damaging	Het
Gbp7	A	T	3: 142,546,372	D572V	probably benign	Het
Gm21903	A	T	17: 39,043,320	F8I	unknown	Het
Grin2b	A	G	6: 135,732,199	S1450P	probably benign	Het
Icos	C	A	1: 60,993,856	S71R	probably damaging	Het
Ighv1-13	T	A	12: 114,630,832	N51K	unknown	Het
Ighv1-37	C	T	12: 114,896,625		probably benign	Het
Il1f9	A	G	2: 24,188,649	Y87C	probably benign	Het
Irf7	T	C	7: 141,263,281	N440D	possibly damaging	Het
Ivns1abp	T	A	1: 151,354,010	L150M	probably damaging	Het
Kif16b	A	G	2: 142,711,908	I990T	probably damaging	Het
Kif23	A	G	9: 61,927,035		probably null	Het
Lca5l	T	G	16: 96,159,708	K523T	possibly damaging	Het
Mast3	A	G	8: 70,780,441	F1076L	probably benign	Het
Nek11	A	T	9: 105,347,992	I107N	probably damaging	Het
Nlrp12	T	C	7: 3,240,805	H359R	probably damaging	Het
Nox3	A	G	17: 3,685,923	S143P	probably damaging	Het
Olfr1495	A	T	19: 13,768,357	N5I	probably benign	Het
Olfr957	A	C	9: 39,511,146	N191K	probably benign	Het
Rnf10	C	A	5: 115,272,261	K51N	possibly damaging	Het
Scap	G	A	9: 110,381,286	G921D	probably benign	Het
Tk2	A	T	8: 104,236,818	S140T	probably damaging	Het
Tmem106b	A	G	6: 13,084,244	Y249C	probably damaging	Het
Ttll5	T	A	12: 85,876,578	S276R	probably damaging	Het
Ugt1a7c	T	C	1: 88,095,356	V79A	probably benign	Het
Zfp410	T	C	12: 84,327,312	V141A	possibly damaging	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
R8177:Slc6a13	UTSW	6	121325028	nonsense	probably null
R8324:Slc6a13	UTSW	6	121337414	makesense	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'- GGCTTGGAGACATGAAGCTG -3'
(R):5'- ACCACCACAGATGCATTGGG -3'

Sequencing Primer
(F):5'- TGAACAGCTGCGAGGCC -3'
(R):5'- GATCCGGGATACTCCATATAGCTC -3'

Posted On

2020-10-20