Mutagenetix > Incidental Mutation

Incidental Mutation 'R8963:Slc6a11'

682485

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

068797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8963 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114108202-114226847 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 114202782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032451 (fasta)

Gene Model

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

AlphaFold

P31650

Predicted Effect

probably null
Transcript: ENSMUST00000032451

SMART Domains

Protein: ENSMUSP00000032451
Gene: ENSMUSG00000030307

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

Predicted Effect

probably null
Transcript: ENSMUST00000032451

SMART Domains

Protein: ENSMUSP00000032451
Gene: ENSMUSG00000030307

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: 99.5%
20x: 98.4%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,902,963 (GRCm39)	T421A	probably damaging	Het
Adamts12	T	C	15: 11,317,443 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,567,588 (GRCm39)	V5195E	probably benign	Het
Adora2b	C	T	11: 62,139,983 (GRCm39)	A19V	possibly damaging	Het
Ankrd28	A	G	14: 31,477,698 (GRCm39)	C115R	probably benign	Het
Ankrd35	T	A	3: 96,587,003 (GRCm39)	L106*	probably null	Het
Ankrd44	G	A	1: 54,801,538 (GRCm39)	A263V	probably damaging	Het
Apol7b	T	C	15: 77,308,120 (GRCm39)	K125R	possibly damaging	Het
Cacna1c	A	T	6: 118,719,232 (GRCm39)	L245*	probably null	Het
Cbll1	A	T	12: 31,538,199 (GRCm39)	H185Q	probably damaging	Het
Ccdc150	A	C	1: 54,311,641 (GRCm39)	N209T	probably benign	Het
Ccdc88a	T	A	11: 29,448,416 (GRCm39)	N1465K	possibly damaging	Het
Cfap54	C	A	10: 92,864,562 (GRCm39)	G124*	probably null	Het
Chml	A	T	1: 175,514,601 (GRCm39)	L440H	probably damaging	Het
Chrnd	A	T	1: 87,122,603 (GRCm39)	Q128L	probably damaging	Het
Clvs2	A	T	10: 33,498,677 (GRCm39)	D84E	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,926 (GRCm39)	I463F	possibly damaging	Het
Cyp51	C	A	5: 4,136,519 (GRCm39)	R425L	probably damaging	Het
Daam1	A	G	12: 71,992,018 (GRCm39)	T279A	unknown	Het
Ebf2	G	T	14: 67,665,554 (GRCm39)	V571F	probably benign	Het
Elapor2	T	A	5: 9,487,792 (GRCm39)	N559K	probably damaging	Het
Elavl4	A	T	4: 110,063,776 (GRCm39)	I275N	probably damaging	Het
F11r	A	G	1: 171,288,505 (GRCm39)	Q116R	probably benign	Het
Foxred2	T	A	15: 77,829,805 (GRCm39)	D580V	probably benign	Het
Gatad1	A	C	5: 3,691,544 (GRCm39)	L4R	probably damaging	Het
Gcn1	T	A	5: 115,727,153 (GRCm39)	M670K	probably benign	Het
Greb1	A	T	12: 16,774,885 (GRCm39)	F171I	probably damaging	Het
Grin2b	A	G	6: 136,021,007 (GRCm39)	V98A	probably damaging	Het
Helz2	A	T	2: 180,871,407 (GRCm39)	V2735E	probably damaging	Het
Hrct1	A	T	4: 43,727,564 (GRCm39)		probably benign	Het
Ighv1-11	C	T	12: 114,575,864 (GRCm39)	R117K	probably damaging	Het
Igkv12-46	A	T	6: 69,741,754 (GRCm39)	S34T	probably damaging	Het
Il27ra	T	A	8: 84,767,711 (GRCm39)	N71Y	probably damaging	Het
Iqca1	G	T	1: 90,067,649 (GRCm39)	H201N	probably benign	Het
Itgb1bp1	C	T	12: 21,324,864 (GRCm39)	R64Q	probably damaging	Het
Katnb1	T	C	8: 95,809,519 (GRCm39)	L13S	probably damaging	Het
Kif26b	G	A	1: 178,743,714 (GRCm39)	R1270Q	probably benign	Het
Klhdc2	A	T	12: 69,347,065 (GRCm39)	R77*	probably null	Het
Klra10	A	T	6: 130,249,617 (GRCm39)		probably null	Het
Large1	A	T	8: 73,542,612 (GRCm39)	I704N	probably damaging	Het
Lrp1b	G	A	2: 40,888,196 (GRCm39)	H2241Y	probably benign	Het
Lrpap1	T	A	5: 35,255,001 (GRCm39)	M212L	probably benign	Het
Mab21l1	A	G	3: 55,690,348 (GRCm39)		probably benign	Het
Map4k4	A	T	1: 40,039,740 (GRCm39)	Q44L	probably damaging	Het
Map7d1	A	G	4: 126,130,475 (GRCm39)	S412P	probably damaging	Het
Me1	A	T	9: 86,480,844 (GRCm39)	F354I	probably damaging	Het
Nlrp1b	A	G	11: 71,108,658 (GRCm39)	V281A	probably damaging	Het
Nrip2	A	G	6: 128,385,288 (GRCm39)	T240A	possibly damaging	Het
Nsmaf	A	G	4: 6,428,471 (GRCm39)	V203A	probably damaging	Het
Or12e8	T	A	2: 87,187,950 (GRCm39)	I54K	possibly damaging	Het
Or4g17	A	T	2: 111,209,645 (GRCm39)	Q100L	probably damaging	Het
Or4n5	A	T	14: 50,132,509 (GRCm39)	M250K	probably benign	Het
Or8g2	A	G	9: 39,821,495 (GRCm39)	Y132C	probably damaging	Het
P4ha2	T	C	11: 54,004,995 (GRCm39)	F124L	probably benign	Het
Pcdha9	A	T	18: 37,131,750 (GRCm39)	D273V	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnd1	G	T	6: 115,949,506 (GRCm39)	S760*	probably null	Het
Polr1b	A	G	2: 128,957,576 (GRCm39)	T544A	probably benign	Het
Polr2g	T	C	19: 8,771,513 (GRCm39)	D153G	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Rad51ap2	A	C	12: 11,506,255 (GRCm39)	E59A	possibly damaging	Het
Rrm1	A	T	7: 102,105,739 (GRCm39)	Y285F	probably benign	Het
Ryr3	A	G	2: 112,667,015 (GRCm39)		probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Sftpd	A	G	14: 40,905,001 (GRCm39)	V30A	probably benign	Het
Sirt6	A	G	10: 81,462,378 (GRCm39)	V7A	probably benign	Het
Ska1	C	T	18: 74,330,639 (GRCm39)	V188M	probably damaging	Het
Skint8	G	A	4: 111,794,241 (GRCm39)	M210I	probably benign	Het
Slc6a2	A	T	8: 93,715,702 (GRCm39)	H280L	probably benign	Het
Sptan1	T	C	2: 29,873,744 (GRCm39)	V208A	possibly damaging	Het
Taf6l	T	A	19: 8,752,135 (GRCm39)	T518S	probably benign	Het
Thoc2l	T	C	5: 104,665,652 (GRCm39)	V58A	probably benign	Het
Tsc22d1	T	C	14: 76,656,266 (GRCm39)	M59T	probably benign	Het
Unc5cl	A	G	17: 48,769,361 (GRCm39)	T282A	probably benign	Het
Vav3	A	G	3: 109,590,229 (GRCm39)	K260E	probably damaging	Het
Vmn2r53	A	G	7: 12,315,926 (GRCm39)	V631A	probably damaging	Het
Zfp938	A	T	10: 82,061,287 (GRCm39)	F444L	possibly 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
R9032:Slc6a11	UTSW	6	114,202,808 (GRCm39)	missense	probably damaging	1.00
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'- GAGGTAGTCCCCAGGAATATAAATG -3'
(R):5'- GACCAGCAGCTATCTGTGTTCC -3'

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

Posted On

2021-08-31