Mutagenetix > Incidental Mutation

Incidental Mutation 'R7391:Slc6a11'

573435

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

045473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7391 (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 114215422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 441 (I441F)

Ref Sequence

ENSEMBL: ENSMUSP00000032451 (fasta)

Gene Model

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

AlphaFold

P31650

Predicted Effect

probably benign
Transcript: ENSMUST00000032451
AA Change: I441F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032451
Gene: ENSMUSG00000030307
AA Change: I441F

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: 99.7%
20x: 98.9%

Validation Efficiency

99% (79/80)

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
Arfgef3	A	T	10: 18,522,007 (GRCm39)	I673K	probably benign	Het
Arhgap32	C	A	9: 32,093,235 (GRCm39)	T196K	probably benign	Het
Azi2	T	A	9: 117,879,960 (GRCm39)		probably null	Het
B3gnt2	A	T	11: 22,786,482 (GRCm39)	C235*	probably null	Het
Capn5	C	T	7: 97,780,426 (GRCm39)	V315M	probably benign	Het
Ccl24	T	A	5: 135,599,676 (GRCm39)	R111S	possibly damaging	Het
Cdk9	A	G	2: 32,602,083 (GRCm39)	V45A	probably damaging	Het
Cep162	G	T	9: 87,130,547 (GRCm39)	S21*	probably null	Het
Chil3	T	A	3: 106,071,496 (GRCm39)	Y56F	probably damaging	Het
Ctr9	T	A	7: 110,642,378 (GRCm39)	L368*	probably null	Het
Ctss	A	G	3: 95,436,852 (GRCm39)	E45G	probably benign	Het
Cyp2c29	A	T	19: 39,296,211 (GRCm39)	Q214L	probably null	Het
Cyp2d34	T	A	15: 82,502,587 (GRCm39)	N183I	probably benign	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Elp1	C	A	4: 56,781,211 (GRCm39)	Q487H	possibly damaging	Het
Elp1	T	G	4: 56,781,212 (GRCm39)	Q487P	probably benign	Het
Ermp1	C	A	19: 29,604,468 (GRCm39)		probably null	Het
Ermp1	T	A	19: 29,604,469 (GRCm39)		probably null	Het
Evi2	A	G	11: 79,406,493 (GRCm39)	S361P	probably benign	Het
Ext2	T	A	2: 93,560,612 (GRCm39)	K518M	probably damaging	Het
Fgl1	A	C	8: 41,663,483 (GRCm39)	M15R	probably benign	Het
Fsip2	T	G	2: 82,820,663 (GRCm39)	D5465E	possibly damaging	Het
Hdlbp	A	T	1: 93,358,783 (GRCm39)	I256N	possibly damaging	Het
Hmmr	G	T	11: 40,598,613 (GRCm39)		probably null	Het
Hnrnpu	T	C	1: 178,164,643 (GRCm39)	Q165R	unknown	Het
Homer3	G	A	8: 70,742,134 (GRCm39)	A132T	probably benign	Het
Ift70a1	T	C	2: 75,810,359 (GRCm39)	K575E	probably benign	Het
Kcnb1	T	C	2: 166,947,370 (GRCm39)	R493G	probably damaging	Het
Kcnn3	A	T	3: 89,516,778 (GRCm39)	T396S	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krtap4-1	A	G	11: 99,518,810 (GRCm39)	S67P	unknown	Het
Lama4	G	T	10: 38,963,383 (GRCm39)		probably null	Het
Lrrtm2	T	A	18: 35,345,818 (GRCm39)	I495F	possibly damaging	Het
Mical2	A	T	7: 111,919,816 (GRCm39)	E442V	probably damaging	Het
Muc16	C	T	9: 18,550,832 (GRCm39)	V5154I	probably benign	Het
Nav3	A	T	10: 109,539,317 (GRCm39)	M2028K	probably benign	Het
Ncr1	T	A	7: 4,347,470 (GRCm39)	W249R	possibly damaging	Het
Neurod6	T	C	6: 55,656,616 (GRCm39)	D7G	probably damaging	Het
Nwd1	A	G	8: 73,389,046 (GRCm39)	E158G	probably damaging	Het
Or10ak7	A	T	4: 118,791,198 (GRCm39)	N282K	possibly damaging	Het
Or2h15	A	T	17: 38,441,941 (GRCm39)	F47L	probably benign	Het
Or2t26	A	G	11: 49,039,806 (GRCm39)	T241A	probably damaging	Het
Or2y11	T	C	11: 49,443,371 (GRCm39)	S266P	probably damaging	Het
Or51a39	T	C	7: 102,363,189 (GRCm39)	N144D	probably benign	Het
Padi2	A	G	4: 140,665,266 (GRCm39)	D457G	probably benign	Het
Parn	C	A	16: 13,485,870 (GRCm39)		probably null	Het
Pcdh1	C	T	18: 38,335,838 (GRCm39)	E266K	possibly damaging	Het
Pigr	A	G	1: 130,777,303 (GRCm39)	D703G	probably damaging	Het
Ppm1f	T	A	16: 16,732,098 (GRCm39)	S183T	probably benign	Het
Ppp2r5b	T	A	19: 6,278,544 (GRCm39)	Q455L	probably benign	Het
Pramel20	T	A	4: 143,298,876 (GRCm39)	L273H	probably damaging	Het
Ptpn13	C	T	5: 103,688,847 (GRCm39)	S880L	probably damaging	Het
R3hdm4	T	C	10: 79,746,943 (GRCm39)	K240R	probably benign	Het
Rin1	T	C	19: 5,100,888 (GRCm39)	M1T	probably null	Het
Rundc3b	T	A	5: 8,609,455 (GRCm39)	M170L	probably benign	Het
Ryr3	A	T	2: 112,611,322 (GRCm39)		probably null	Het
Scn11a	T	C	9: 119,624,783 (GRCm39)	D513G	probably damaging	Het
Slc27a2	C	A	2: 126,395,082 (GRCm39)	P3Q	unknown	Het
Slc4a8	A	G	15: 100,682,743 (GRCm39)	I187M	probably damaging	Het
Stx2	C	T	5: 129,065,867 (GRCm39)	R263Q	probably damaging	Het
Svep1	A	T	4: 58,145,185 (GRCm39)	W427R	probably damaging	Het
Tes	T	A	6: 17,096,166 (GRCm39)	H51Q	probably damaging	Het
Thnsl2	T	C	6: 71,108,914 (GRCm39)	D299G	probably damaging	Het
Tmem30b	T	C	12: 73,592,702 (GRCm39)	S138G	probably benign	Het
Tmprss11c	T	A	5: 86,385,650 (GRCm39)	H274L	probably damaging	Het
Trim10	G	A	17: 37,180,773 (GRCm39)	M1I	probably null	Het
Unc13b	A	G	4: 43,216,459 (GRCm39)	I253V	probably benign	Het
Unc80	A	G	1: 66,734,687 (GRCm39)	S3305G	probably benign	Het
Ush2a	TCACC	TC	1: 188,694,205 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,508,099 (GRCm39)	D267G	probably damaging	Het
Vmn1r46	C	T	6: 89,953,607 (GRCm39)	S152L	probably benign	Het
Wdr90	T	C	17: 26,065,502 (GRCm39)	N1621S	probably benign	Het
Zfhx3	G	A	8: 109,674,475 (GRCm39)	A1842T	probably damaging	Het
Zfp583	A	G	7: 6,319,498 (GRCm39)	S505P	probably damaging	Het
Zfp608	T	C	18: 55,030,619 (GRCm39)	Y1107C	possibly damaging	Het
Zfp616	A	G	11: 73,976,155 (GRCm39)	H808R	probably benign	Het
Zfp677	T	C	17: 21,618,653 (GRCm39)	F570S	possibly damaging	Het
Zfp85	A	T	13: 67,897,410 (GRCm39)	Y221N	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
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
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'- CTGGTACATGGACCTAGGGTAC -3'
(R):5'- GTTGGCCTGACAAGTCTCTGTG -3'

Sequencing Primer
(F):5'- AGCCGTGGTAGACATGTA -3'
(R):5'- GAGTTTTCCTGTCTAGCAACATCTAG -3'

Posted On

2019-09-13