Mutagenetix > Incidental Mutation

Incidental Mutation 'R2112:Slc12a6'

232631

Institutional Source

Beutler Lab

Gene Symbol

Slc12a6

Ensembl Gene

ENSMUSG00000027130

Gene Name

solute carrier family 12, member 6

Synonyms

KCC3, gaxp

MMRRC Submission

040116-MU

Accession Numbers

Essential gene?

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

Stock #

R2112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112096659-112193508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112186830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 943 (I943T)

Ref Sequence

ENSEMBL: ENSMUSP00000028549 (fasta)

Gene Model

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

AlphaFold

Q924N4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028549
AA Change: I943T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130
AA Change: I943T

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 damaging
Transcript: ENSMUST00000053666
AA Change: I892T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130
AA Change: I892T

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

probably benign
Transcript: ENSMUST00000110987

SMART Domains

Protein: ENSMUSP00000106615
Gene: ENSMUSG00000027130

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 damaging
Transcript: ENSMUST00000110991
AA Change: I943T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106619
Gene: ENSMUSG00000027130
AA Change: I943T

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 damaging
Transcript: ENSMUST00000141047
AA Change: I928T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764
AA Change: I928T

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: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	G	5: 121,638,777 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Ambra1	T	A	2: 91,706,132 (GRCm39)	W746R	probably damaging	Het
Ankhd1	A	T	18: 36,774,679 (GRCm39)	K1420I	probably damaging	Het
Ap1b1	T	C	11: 4,965,613 (GRCm39)	F51L	probably damaging	Het
Arhgap24	A	C	5: 103,040,366 (GRCm39)	R434S	probably damaging	Het
Arhgap29	T	C	3: 121,805,210 (GRCm39)	L525P	probably benign	Het
Arpc1b	T	C	5: 145,060,579 (GRCm39)	Y124H	probably damaging	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp11b	G	T	3: 35,891,677 (GRCm39)	V830F	probably damaging	Het
Ccdc71l	T	A	12: 32,429,229 (GRCm39)	F83I	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfap251	G	A	5: 123,392,438 (GRCm39)		probably benign	Het
Cldn15	T	A	5: 136,997,016 (GRCm39)	M19K	possibly damaging	Het
Cog4	A	G	8: 111,585,214 (GRCm39)	Y292C	possibly damaging	Het
Col12a1	A	G	9: 79,551,181 (GRCm39)	V2145A	possibly damaging	Het
Col5a3	T	C	9: 20,721,073 (GRCm39)	I110V	unknown	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Crnkl1	A	T	2: 145,772,617 (GRCm39)	Y153*	probably null	Het
Dock10	T	A	1: 80,483,359 (GRCm39)	K2082M	probably damaging	Het
Dock10	T	C	1: 80,483,360 (GRCm39)	K2083E	probably damaging	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dthd1	T	C	5: 63,000,222 (GRCm39)	S515P	probably damaging	Het
Dthd1	T	C	5: 62,979,251 (GRCm39)	Y304H	probably damaging	Het
Etf1	A	T	18: 35,042,154 (GRCm39)		probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Galt	A	G	4: 41,758,245 (GRCm39)	T337A	probably benign	Het
Gbp4	A	G	5: 105,283,042 (GRCm39)	L76P	possibly damaging	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gigyf2	A	G	1: 87,368,452 (GRCm39)	H1044R	probably damaging	Het
Glg1	T	C	8: 111,919,178 (GRCm39)	D315G	probably damaging	Het
Gm4787	C	T	12: 81,424,607 (GRCm39)	C517Y	probably damaging	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr37	T	C	6: 25,669,380 (GRCm39)	Y488C	possibly damaging	Het
Hap1	T	C	11: 100,244,825 (GRCm39)	D240G	probably benign	Het
Hhla1	C	G	15: 65,808,232 (GRCm39)	W271S	probably benign	Het
Hmgxb3	T	C	18: 61,288,458 (GRCm39)	R470G	possibly damaging	Het
Inpp5a	A	G	7: 139,154,877 (GRCm39)	D332G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Isoc2b	T	A	7: 4,852,474 (GRCm39)	D171V	probably damaging	Het
Kif20b	T	C	19: 34,909,132 (GRCm39)	I223T	probably benign	Het
Krt6b	T	C	15: 101,586,999 (GRCm39)	T258A	possibly damaging	Het
Lipo4	G	A	19: 33,488,926 (GRCm39)	P219L	probably benign	Het
Luc7l	T	C	17: 26,474,101 (GRCm39)		probably null	Het
Madd	T	C	2: 91,007,321 (GRCm39)	K264E	possibly damaging	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mob3b	A	T	4: 35,083,795 (GRCm39)	N131K	probably damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myo15a	T	C	11: 60,384,994 (GRCm39)	F1699L	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	G	C	2: 52,218,776 (GRCm39)	T78S	probably damaging	Het
Nek2	T	C	1: 191,559,320 (GRCm39)	V275A	probably benign	Het
Nfatc1	A	T	18: 80,678,879 (GRCm39)	C836*	probably null	Het
Nos1	T	C	5: 118,074,636 (GRCm39)	V1060A	probably benign	Het
Notch3	T	A	17: 32,363,584 (GRCm39)	I1160F	probably benign	Het
Nox4	T	C	7: 87,021,216 (GRCm39)	L476P	probably damaging	Het
Npc1	A	T	18: 12,346,529 (GRCm39)	N222K	possibly damaging	Het
Nrn1l	C	A	8: 106,621,378 (GRCm39)	H109Q	possibly damaging	Het
Or4c11	T	C	2: 88,695,545 (GRCm39)	S199P	possibly damaging	Het
Or4k15	G	T	14: 50,364,080 (GRCm39)	L15F	probably damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or7a41	T	C	10: 78,871,248 (GRCm39)	L206P	probably damaging	Het
Or8g27	T	C	9: 39,129,075 (GRCm39)	Y141H	probably benign	Het
Or8g33	C	A	9: 39,337,966 (GRCm39)	V134L	probably benign	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Plch1	T	A	3: 63,630,227 (GRCm39)	T514S	probably damaging	Het
Ppargc1b	G	A	18: 61,444,321 (GRCm39)	P297S	probably benign	Het
Ppig	A	G	2: 69,580,451 (GRCm39)	T662A	unknown	Het
Prdm2	A	C	4: 142,858,506 (GRCm39)	S1595A	probably benign	Het
Ptpn5	T	A	7: 46,732,890 (GRCm39)	T318S	probably benign	Het
Ralgps2	A	G	1: 156,660,278 (GRCm39)	Y265H	probably damaging	Het
Seh1l	T	C	18: 67,920,249 (GRCm39)	I182T	probably damaging	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Sparcl1	T	A	5: 104,236,289 (GRCm39)	Q488L	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Sybu	T	C	15: 44,536,731 (GRCm39)	S532G	probably benign	Het
Syde2	G	A	3: 145,704,241 (GRCm39)	G131S	possibly damaging	Het
Taok1	C	T	11: 77,462,472 (GRCm39)	V206I	probably benign	Het
Tas1r2	G	T	4: 139,382,666 (GRCm39)	M101I	probably benign	Het
Trpc6	C	T	9: 8,656,613 (GRCm39)	T680I	probably damaging	Het
Trub1	T	C	19: 57,473,646 (GRCm39)		probably null	Het
Tspan1	G	T	4: 116,020,885 (GRCm39)		probably null	Het
Ttc28	G	A	5: 111,424,139 (GRCm39)	E1438K	probably damaging	Het
Ubr3	A	G	2: 69,808,136 (GRCm39)	T1206A	possibly damaging	Het
Ulbp3	C	T	10: 3,076,459 (GRCm39)		noncoding transcript	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Usp43	G	T	11: 67,812,536 (GRCm39)	N113K	probably damaging	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Vmn1r202	T	A	13: 22,685,904 (GRCm39)	Y171F	possibly damaging	Het
Zfp142	A	G	1: 74,612,795 (GRCm39)	S451P	probably damaging	Het
Zfp516	A	G	18: 82,975,536 (GRCm39)	D578G	probably damaging	Het
Zfp90	G	A	8: 107,152,120 (GRCm39)	C611Y	probably damaging	Het
Zfp954	A	G	7: 7,118,609 (GRCm39)	C312R	probably damaging	Het
Zmym3	A	T	X: 100,450,993 (GRCm39)	V1208D	probably damaging	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
R1958:Slc12a6	UTSW	2	112,185,503 (GRCm39)	missense	possibly damaging	0.92
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

PCR Primer
(F):5'- TCAGTCTTATCAGGAAGCAAGGAAC -3'
(R):5'- GTCCTGAACTAACTAGAAAGCAAGC -3'

Sequencing Primer
(F):5'- GAACGCTGATTGCTCTTCCAAAGG -3'
(R):5'- CTAACTAGAAAGCAAGCTAGGGC -3'

Posted On

2014-09-18