Mutagenetix > Incidental Mutation

Incidental Mutation 'R9032:Slc6a11'

687129

Institutional Source

Beutler Lab

Gene Symbol

Slc6a11

Ensembl Gene

ENSMUSG00000030307

Gene Name

solute carrier family 6 (neurotransmitter transporter, GABA), member 11

Synonyms

GAT4, Gabt4, E130202I16Rik, Gat3, D930045G19Rik

MMRRC Submission

068861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114108202-114226847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114202808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 301 (I301F)

Ref Sequence

ENSEMBL: ENSMUSP00000032451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032451]

AlphaFold

P31650

Predicted Effect

probably damaging
Transcript: ENSMUST00000032451
AA Change: I301F

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

SMART Domains

Protein: ENSMUSP00000032451
Gene: ENSMUSG00000030307
AA Change: I301F

Domain	Start	End	E-Value	Type
low complexity region	25	33	N/A	INTRINSIC
Pfam:SNF	45	571	4.1e-250	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a targeted mutation display postnatal lethality. Mice heterozygous for a targeted mutation display resistance to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,844,782 (GRCm39)	M78I	probably benign	Het
Abca8b	C	T	11: 109,848,073 (GRCm39)	V803M	probably benign	Het
Acap1	T	C	11: 69,772,491 (GRCm39)	E728G	probably damaging	Het
Afg1l	G	A	10: 42,194,637 (GRCm39)	T385M	probably damaging	Het
Ankib1	T	C	5: 3,819,641 (GRCm39)	I93V	probably benign	Het
Aopep	C	T	13: 63,444,681 (GRCm39)	R752*	probably null	Het
Apoa4	T	A	9: 46,154,275 (GRCm39)	L292Q	probably damaging	Het
Arhgap29	T	A	3: 121,808,249 (GRCm39)	D1142E	probably benign	Het
Asb5	A	T	8: 55,038,929 (GRCm39)	D265V	probably benign	Het
Ash1l	C	T	3: 88,889,294 (GRCm39)	A391V	probably benign	Het
Ash1l	T	C	3: 88,891,529 (GRCm39)	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,615,466 (GRCm39)	Y1308*	probably null	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Dmtn	A	G	14: 70,853,534 (GRCm39)	S92P	probably damaging	Het
Edc4	T	C	8: 106,613,639 (GRCm39)	F353S	probably damaging	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,492,894 (GRCm39)	N3872I	probably benign	Het
Fer	T	A	17: 64,228,767 (GRCm39)	M214K	probably damaging	Het
Fgf17	A	G	14: 70,874,436 (GRCm39)	F129L	probably damaging	Het
Fnbp1	T	C	2: 30,973,017 (GRCm39)	D161G	probably damaging	Het
Frmd4b	A	C	6: 97,269,334 (GRCm39)	S993A	probably benign	Het
Hsh2d	T	C	8: 72,954,385 (GRCm39)	S256P	probably benign	Het
Il31ra	T	C	13: 112,660,628 (GRCm39)	S654G		Het
Lmnb2	T	C	10: 80,740,091 (GRCm39)	D442G	probably benign	Het
Med19	A	G	2: 84,515,660 (GRCm39)	M115V	probably damaging	Het
Mroh5	T	C	15: 73,655,302 (GRCm39)	Y641C	probably benign	Het
Mrpl18	A	T	17: 13,134,582 (GRCm39)	V61E	probably damaging	Het
Mrtfb	A	C	16: 13,230,092 (GRCm39)	T926P	probably damaging	Het
Mtap	AC	A	4: 89,090,515 (GRCm39)		probably null	Het
Muc2	T	A	7: 141,287,058 (GRCm39)	C154S	probably damaging	Het
Mypn	T	G	10: 62,983,894 (GRCm39)		probably null	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nes	T	G	3: 87,887,069 (GRCm39)	V1776G	possibly damaging	Het
Nxn	A	G	11: 76,169,383 (GRCm39)	I132T	probably damaging	Het
Oxr1	G	A	15: 41,718,317 (GRCm39)	V798I	probably benign	Het
Papss1	C	A	3: 131,324,817 (GRCm39)	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,601,385 (GRCm39)	N2344S	probably benign	Het
Pfas	C	T	11: 68,879,421 (GRCm39)	G263S		Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Pnma1	T	C	12: 84,193,806 (GRCm39)	N299S	probably benign	Het
Psg23	T	G	7: 18,348,660 (GRCm39)	N49T	possibly damaging	Het
Qrfpr	A	G	3: 36,276,099 (GRCm39)	F97S	probably damaging	Het
Rbl1	A	G	2: 157,035,073 (GRCm39)	F336L	probably benign	Het
Rpap1	G	A	2: 119,608,776 (GRCm39)	P143S	probably benign	Het
Rsph6a	A	T	7: 18,799,250 (GRCm39)	N294Y	probably damaging	Het
Serpinb9h	T	C	13: 33,581,781 (GRCm39)	Y113H	probably damaging	Het
Sesn1	C	T	10: 41,686,835 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,033,992 (GRCm39)	Y782H	probably damaging	Het
Siglecg	T	C	7: 43,061,049 (GRCm39)	V374A	probably benign	Het
Slc35d2	A	G	13: 64,256,227 (GRCm39)	F156S	probably damaging	Het
Slx4ip	A	G	2: 136,910,240 (GRCm39)	K412E	possibly damaging	Het
Tas2r115	A	T	6: 132,714,327 (GRCm39)	V208E	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem132a	G	T	19: 10,843,835 (GRCm39)	Q174K	probably damaging	Het
Tmtc1	A	T	6: 148,237,749 (GRCm39)	Y338*	probably null	Het
Vav3	C	T	3: 109,413,722 (GRCm39)	A220V	probably benign	Het
Wt1	C	A	2: 104,957,160 (GRCm39)	Q7K	probably benign	Het
Zbtb4	T	A	11: 69,672,650 (GRCm39)	F204L	probably benign	Het
Zfp51	T	A	17: 21,684,660 (GRCm39)	L425H	probably damaging	Het

Other mutations in Slc6a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Slc6a11	APN	6	114,111,626 (GRCm39)	missense	probably damaging	1.00
IGL01306:Slc6a11	APN	6	114,111,626 (GRCm39)	missense	probably damaging	1.00
IGL01308:Slc6a11	APN	6	114,111,626 (GRCm39)	missense	probably damaging	1.00
IGL01616:Slc6a11	APN	6	114,111,829 (GRCm39)	missense	possibly damaging	0.93
IGL01985:Slc6a11	APN	6	114,111,853 (GRCm39)	missense	probably benign	0.43
IGL02270:Slc6a11	APN	6	114,215,357 (GRCm39)	missense	probably damaging	1.00
IGL02692:Slc6a11	APN	6	114,139,100 (GRCm39)	missense	probably damaging	1.00
IGL02828:Slc6a11	APN	6	114,111,948 (GRCm39)	missense	possibly damaging	0.53
IGL03135:Slc6a11	APN	6	114,171,570 (GRCm39)	critical splice acceptor site	probably null
ANU23:Slc6a11	UTSW	6	114,111,626 (GRCm39)	missense	probably damaging	1.00
R0603:Slc6a11	UTSW	6	114,221,851 (GRCm39)	missense	probably benign	0.03
R1147:Slc6a11	UTSW	6	114,221,831 (GRCm39)	missense	possibly damaging	0.90
R1147:Slc6a11	UTSW	6	114,221,831 (GRCm39)	missense	possibly damaging	0.90
R1219:Slc6a11	UTSW	6	114,202,772 (GRCm39)	splice site	probably benign
R1226:Slc6a11	UTSW	6	114,171,624 (GRCm39)	missense	possibly damaging	0.93
R1676:Slc6a11	UTSW	6	114,224,627 (GRCm39)	missense	probably benign
R2231:Slc6a11	UTSW	6	114,171,590 (GRCm39)	missense	probably damaging	1.00
R2297:Slc6a11	UTSW	6	114,108,386 (GRCm39)	missense	probably benign	0.37
R4384:Slc6a11	UTSW	6	114,224,688 (GRCm39)	missense	possibly damaging	0.47
R4556:Slc6a11	UTSW	6	114,221,773 (GRCm39)	missense	probably benign	0.00
R4564:Slc6a11	UTSW	6	114,108,323 (GRCm39)	missense	probably benign	0.00
R5488:Slc6a11	UTSW	6	114,220,855 (GRCm39)	missense	probably damaging	1.00
R5736:Slc6a11	UTSW	6	114,139,123 (GRCm39)	missense	probably damaging	1.00
R6021:Slc6a11	UTSW	6	114,207,012 (GRCm39)	missense	probably damaging	1.00
R6150:Slc6a11	UTSW	6	114,222,579 (GRCm39)	missense	probably benign	0.08
R6733:Slc6a11	UTSW	6	114,111,859 (GRCm39)	missense	probably damaging	1.00
R7391:Slc6a11	UTSW	6	114,215,422 (GRCm39)	missense	probably benign
R7451:Slc6a11	UTSW	6	114,222,644 (GRCm39)	nonsense	probably null
R7750:Slc6a11	UTSW	6	114,207,098 (GRCm39)	missense	possibly damaging	0.82
R8115:Slc6a11	UTSW	6	114,108,442 (GRCm39)	missense	probably damaging	1.00
R8179:Slc6a11	UTSW	6	114,222,567 (GRCm39)	missense	probably benign	0.01
R8411:Slc6a11	UTSW	6	114,108,398 (GRCm39)	missense	probably benign	0.18
R8512:Slc6a11	UTSW	6	114,215,402 (GRCm39)	missense	probably damaging	1.00
R8774:Slc6a11	UTSW	6	114,206,995 (GRCm39)	splice site	probably benign
R8963:Slc6a11	UTSW	6	114,202,782 (GRCm39)	critical splice acceptor site	probably null
R9056:Slc6a11	UTSW	6	114,220,905 (GRCm39)	missense	probably benign	0.00
R9085:Slc6a11	UTSW	6	114,202,808 (GRCm39)	missense	probably damaging	1.00
R9407:Slc6a11	UTSW	6	114,220,914 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc6a11	UTSW	6	114,224,603 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGTAGTCCCCAGGAATATAAATG -3'
(R):5'- AATGGAGTGTCTGACCAGCAG -3'

Sequencing Primer
(F):5'- TAATAGGGGTTTCTGAGAAAGTTAGG -3'
(R):5'- AGTGTCTGACCAGCAGCTATCTG -3'

Posted On

2021-11-19