Mutagenetix > Incidental Mutation

Incidental Mutation 'R1958:Slc12a6'

217996

Institutional Source

Beutler Lab

Gene Symbol

Slc12a6

Ensembl Gene

ENSMUSG00000027130

Gene Name

solute carrier family 12, member 6

Synonyms

KCC3, gaxp

MMRRC Submission

039972-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R1958 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112096659-112193508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112185503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 924 (T924I)

Ref Sequence

ENSEMBL: ENSMUSP00000106615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028549] [ENSMUST00000053666] [ENSMUST00000110987] [ENSMUST00000110991] [ENSMUST00000141047]

AlphaFold

Q924N4

Predicted Effect

probably benign
Transcript: ENSMUST00000028549

SMART Domains

Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	114	171	8e-3	SMART
Pfam:AA_permease	190	384	4.1e-25	PFAM
Pfam:AA_permease	453	761	2.3e-43	PFAM
Pfam:SLC12	773	897	7.1e-20	PFAM
Pfam:SLC12	892	1150	3.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053666

SMART Domains

Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130

Domain	Start	End	E-Value	Type
Pfam:AA_permease	139	333	2.3e-25	PFAM
Pfam:AA_permease_2	385	668	1.5e-19	PFAM
Pfam:AA_permease	391	710	4.5e-41	PFAM
low complexity region	828	842	N/A	INTRINSIC
Pfam:KCl_Cotrans_1	967	996	2.2e-23	PFAM
low complexity region	1079	1091	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110987
AA Change: T924I

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106615
Gene: ENSMUSG00000027130
AA Change: T924I

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	99	156	4e-3	SMART
Pfam:AA_permease	175	369	3.9e-25	PFAM
Pfam:AA_permease_2	421	704	3.2e-19	PFAM
Pfam:AA_permease	426	746	5.8e-41	PFAM
low complexity region	864	878	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110991

SMART Domains

Protein: ENSMUSP00000106619
Gene: ENSMUSG00000027130

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	114	171	7e-3	SMART
Pfam:AA_permease	190	384	4.2e-25	PFAM
Pfam:AA_permease_2	436	719	2.9e-19	PFAM
Pfam:AA_permease	442	761	8.2e-41	PFAM
low complexity region	879	893	N/A	INTRINSIC
Pfam:KCl_Cotrans_1	1018	1047	2.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137896

Predicted Effect

probably benign
Transcript: ENSMUST00000141047

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	99	156	8e-3	SMART
Pfam:AA_permease	175	369	6.6e-25	PFAM
Pfam:AA_permease	438	746	3.6e-43	PFAM
Pfam:SLC12	758	884	6.8e-20	PFAM
Pfam:SLC12	877	1033	5.9e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156470

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	T	4: 62,457,146 (GRCm39)	N155I	probably benign	Het
Abca14	A	G	7: 119,924,382 (GRCm39)	Y1678C	probably damaging	Het
Adamts19	A	T	18: 59,103,078 (GRCm39)	R706S	probably benign	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Adss2	A	G	1: 177,597,544 (GRCm39)	I372T	probably damaging	Het
Arhgap15	T	A	2: 44,133,136 (GRCm39)	D347E	possibly damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Asb8	T	C	15: 98,034,097 (GRCm39)	T153A	possibly damaging	Het
Aspscr1	G	T	11: 120,580,034 (GRCm39)	G191V	probably null	Het
Atm	T	C	9: 53,382,718 (GRCm39)	H1957R	probably damaging	Het
Atp13a5	A	G	16: 29,133,419 (GRCm39)	Y411H	probably damaging	Het
Cadm1	T	G	9: 47,761,633 (GRCm39)	I411S	probably damaging	Het
Cdh23	T	A	10: 60,246,652 (GRCm39)	M927L	probably benign	Het
Cdk15	A	T	1: 59,383,475 (GRCm39)	R423W	probably damaging	Het
Cep250	T	A	2: 155,818,301 (GRCm39)		probably null	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Cfap54	T	C	10: 92,833,204 (GRCm39)	S1141G	probably benign	Het
Clnk	T	C	5: 38,863,969 (GRCm39)	Y428C	possibly damaging	Het
Cnksr1	A	G	4: 133,955,727 (GRCm39)	S668P	probably benign	Het
Cpxm2	A	T	7: 131,663,876 (GRCm39)	I349N	probably damaging	Het
Csmd3	A	G	15: 47,868,035 (GRCm39)		probably null	Het
Cstdc3	T	C	16: 36,132,927 (GRCm39)	L68P	possibly damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dph2	A	T	4: 117,749,041 (GRCm39)	F5I	probably damaging	Het
Dst	T	A	1: 34,202,802 (GRCm39)	F325L	probably damaging	Het
Edem3	T	C	1: 151,680,076 (GRCm39)	L474S	probably damaging	Het
Emilin1	T	A	5: 31,075,160 (GRCm39)	L467Q	probably benign	Het
Fam170a	G	A	18: 50,415,181 (GRCm39)	E276K	probably benign	Het
Farp1	A	T	14: 121,456,787 (GRCm39)		probably null	Het
Fbrs	A	T	7: 127,085,163 (GRCm39)	T584S	possibly damaging	Het
Fbxo22	T	A	9: 55,116,626 (GRCm39)		probably null	Het
Fhod3	T	G	18: 25,223,522 (GRCm39)	L956R	probably damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm11444	A	T	11: 85,738,999 (GRCm39)		probably benign	Het
Gm14443	T	C	2: 175,011,497 (GRCm39)	I316M	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Hdhd2	A	G	18: 77,052,841 (GRCm39)	T164A	probably benign	Het
Hoxb9	T	A	11: 96,162,880 (GRCm39)	D171E	possibly damaging	Het
Hpx	A	G	7: 105,245,603 (GRCm39)	Y118H	probably damaging	Het
Iqsec1	T	C	6: 90,647,441 (GRCm39)	K858E	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Lama2	C	A	10: 26,857,594 (GRCm39)	R3085L	probably damaging	Het
Lyst	C	A	13: 13,791,203 (GRCm39)	A22E	probably damaging	Het
Man2a1	T	C	17: 65,057,830 (GRCm39)	F1079L	probably benign	Het
Marco	C	T	1: 120,412,593 (GRCm39)	G303R	probably damaging	Het
Marveld2	A	C	13: 100,733,858 (GRCm39)	I536R	probably damaging	Het
Mcm5	A	G	8: 75,848,257 (GRCm39)	D502G	probably benign	Het
Mdga1	A	T	17: 30,059,862 (GRCm39)	L653Q	probably damaging	Het
Mical2	A	G	7: 111,980,311 (GRCm39)	D161G	probably benign	Het
Mroh2a	C	T	1: 88,165,213 (GRCm39)	R445*	probably null	Het
Mrpl46	A	T	7: 78,431,146 (GRCm39)		probably null	Het
Nckipsd	C	A	9: 108,691,863 (GRCm39)		probably null	Het
Nek11	T	C	9: 105,170,916 (GRCm39)	D373G	probably benign	Het
Nle1	G	A	11: 82,795,068 (GRCm39)	S321F	probably benign	Het
Noxa1	A	G	2: 24,980,620 (GRCm39)	S130P	probably damaging	Het
Or10a5	A	G	7: 106,635,478 (GRCm39)	T39A	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5l13	A	T	2: 87,779,809 (GRCm39)	L256H	probably damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Parp3	T	G	9: 106,352,021 (GRCm39)		probably null	Het
Pask	A	T	1: 93,249,180 (GRCm39)	I740N	probably benign	Het
Pelp1	A	G	11: 70,289,347 (GRCm39)	F221S	probably damaging	Het
Pkd1l1	T	G	11: 8,824,161 (GRCm39)	K1135Q	probably benign	Het
Plcl2	A	T	17: 50,915,109 (GRCm39)	Q706L	probably damaging	Het
Psg26	T	C	7: 18,212,264 (GRCm39)	T364A	probably benign	Het
Ptprb	C	T	10: 116,177,441 (GRCm39)	T1047M	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab37	C	T	11: 115,051,177 (GRCm39)	A155V	probably damaging	Het
Rbbp6	A	C	7: 122,601,168 (GRCm39)		probably benign	Het
Rbmxl2	A	G	7: 106,809,405 (GRCm39)	D230G	probably benign	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,115 (GRCm39)		probably benign	Het
Sass6	G	T	3: 116,403,945 (GRCm39)	K194N	possibly damaging	Het
Sgpp1	T	G	12: 75,782,222 (GRCm39)	D39A	probably benign	Het
Shank3	T	C	15: 89,387,351 (GRCm39)	V198A	probably damaging	Het
Sin3a	T	A	9: 57,012,893 (GRCm39)	S591T	probably damaging	Het
Sln	T	A	9: 53,760,785 (GRCm39)	I10N	probably benign	Het
St3gal3	A	T	4: 117,797,268 (GRCm39)	M309K	probably damaging	Het
Syne2	T	A	12: 76,016,319 (GRCm39)	D3301E	probably benign	Het
Tgtp2	A	G	11: 48,949,919 (GRCm39)	S218P	probably damaging	Het
Tha1	C	T	11: 117,760,179 (GRCm39)		probably benign	Het
Tmem102	A	G	11: 69,695,225 (GRCm39)	V249A	probably benign	Het
Top3b	G	A	16: 16,702,166 (GRCm39)	E268K	possibly damaging	Het
Trip4	T	C	9: 65,746,307 (GRCm39)	S530G	possibly damaging	Het
Tut1	T	A	19: 8,936,677 (GRCm39)	V167E	probably damaging	Het
Tut4	A	T	4: 108,412,903 (GRCm39)	S1535C	probably damaging	Het
Ube2u	A	T	4: 100,338,833 (GRCm39)	M33L	probably benign	Het
Unc79	T	C	12: 102,957,621 (GRCm39)	I12T	probably damaging	Het
Unc79	A	T	12: 103,041,178 (GRCm39)	D737V	probably benign	Het
Vmn1r26	A	G	6: 57,985,286 (GRCm39)	V301A	probably benign	Het
Vmn1r86	A	G	7: 12,836,621 (GRCm39)	V35A	possibly damaging	Het
Vmn2r98	A	C	17: 19,286,680 (GRCm39)	N393H	possibly damaging	Het
Vps13b	T	G	15: 35,878,835 (GRCm39)	S2945A	probably damaging	Het
Whrn	C	T	4: 63,353,666 (GRCm39)	R367H	possibly damaging	Het
Zfp235	A	T	7: 23,839,771 (GRCm39)	L133F	probably damaging	Het
Zfp74	T	C	7: 29,635,136 (GRCm39)	T191A	probably benign	Het
Zfp943	A	T	17: 22,211,979 (GRCm39)	K355I	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zscan29	A	T	2: 121,000,289 (GRCm39)		probably null	Het

Other mutations in Slc12a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01488:Slc12a6	APN	2	112,183,409 (GRCm39)	splice site	probably null
IGL02573:Slc12a6	APN	2	112,188,986 (GRCm39)	critical splice donor site	probably null
burgess	UTSW	2	112,177,662 (GRCm39)	missense	probably benign	0.09
petrified_forest	UTSW	2	112,177,771 (GRCm39)	missense	probably damaging	1.00
Prebiotic	UTSW	2	112,183,280 (GRCm39)	missense	probably benign	0.30
R0548:Slc12a6	UTSW	2	112,166,269 (GRCm39)	critical splice donor site	probably null
R1495:Slc12a6	UTSW	2	112,184,535 (GRCm39)	missense	probably damaging	0.99
R1726:Slc12a6	UTSW	2	112,177,771 (GRCm39)	missense	probably damaging	1.00
R1856:Slc12a6	UTSW	2	112,166,272 (GRCm39)	splice site	probably null
R2112:Slc12a6	UTSW	2	112,186,830 (GRCm39)	missense	probably damaging	1.00
R2865:Slc12a6	UTSW	2	112,177,662 (GRCm39)	missense	probably benign	0.09
R3888:Slc12a6	UTSW	2	112,097,375 (GRCm39)	missense	possibly damaging	0.76
R4412:Slc12a6	UTSW	2	112,166,233 (GRCm39)	missense	possibly damaging	0.95
R4655:Slc12a6	UTSW	2	112,188,111 (GRCm39)	critical splice acceptor site	probably null
R4669:Slc12a6	UTSW	2	112,184,640 (GRCm39)	missense	probably damaging	1.00
R4928:Slc12a6	UTSW	2	112,183,306 (GRCm39)	missense	probably damaging	1.00
R4974:Slc12a6	UTSW	2	112,188,870 (GRCm39)	missense	probably damaging	1.00
R5016:Slc12a6	UTSW	2	112,186,972 (GRCm39)	intron	probably benign
R5372:Slc12a6	UTSW	2	112,177,705 (GRCm39)	nonsense	probably null
R5405:Slc12a6	UTSW	2	112,169,724 (GRCm39)	missense	probably damaging	1.00
R5786:Slc12a6	UTSW	2	112,115,067 (GRCm39)	missense	probably benign	0.01
R5836:Slc12a6	UTSW	2	112,172,343 (GRCm39)	missense	possibly damaging	0.62
R6280:Slc12a6	UTSW	2	112,167,703 (GRCm39)	missense	probably damaging	1.00
R6310:Slc12a6	UTSW	2	112,166,184 (GRCm39)	missense	probably damaging	1.00
R6525:Slc12a6	UTSW	2	112,182,796 (GRCm39)	missense	probably damaging	1.00
R6597:Slc12a6	UTSW	2	112,183,280 (GRCm39)	missense	probably damaging	1.00
R6723:Slc12a6	UTSW	2	112,168,287 (GRCm39)	missense	probably damaging	1.00
R6895:Slc12a6	UTSW	2	112,185,440 (GRCm39)	missense	probably damaging	1.00
R7059:Slc12a6	UTSW	2	112,183,257 (GRCm39)	missense	probably damaging	0.99
R7188:Slc12a6	UTSW	2	112,164,760 (GRCm39)	missense	probably benign	0.04
R7395:Slc12a6	UTSW	2	112,182,887 (GRCm39)	missense	probably damaging	1.00
R7552:Slc12a6	UTSW	2	112,172,319 (GRCm39)	missense	probably damaging	1.00
R7992:Slc12a6	UTSW	2	112,166,256 (GRCm39)	missense	probably damaging	1.00
R8016:Slc12a6	UTSW	2	112,186,899 (GRCm39)	missense	probably benign	0.42
R8122:Slc12a6	UTSW	2	112,097,167 (GRCm39)	start codon destroyed	probably null
R8192:Slc12a6	UTSW	2	112,181,722 (GRCm39)	missense	probably damaging	1.00
R8222:Slc12a6	UTSW	2	112,169,870 (GRCm39)	splice site	probably null
R8534:Slc12a6	UTSW	2	112,174,312 (GRCm39)	missense	probably damaging	1.00
R9018:Slc12a6	UTSW	2	112,174,585 (GRCm39)	splice site	probably benign
R9281:Slc12a6	UTSW	2	112,164,754 (GRCm39)	missense	probably benign	0.00
R9418:Slc12a6	UTSW	2	112,174,555 (GRCm39)	missense
R9448:Slc12a6	UTSW	2	112,179,704 (GRCm39)	missense	probably damaging	1.00
R9460:Slc12a6	UTSW	2	112,183,280 (GRCm39)	missense	probably benign	0.30
R9694:Slc12a6	UTSW	2	112,174,881 (GRCm39)	missense	probably damaging	1.00
R9712:Slc12a6	UTSW	2	112,186,817 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-08-01