Mutagenetix > Incidental Mutation

Incidental Mutation 'R9018:Slc12a6'

713517

Institutional Source

Beutler Lab

Gene Symbol

Slc12a6

Ensembl Gene

ENSMUSG00000027130

Gene Name

solute carrier family 12, member 6

Synonyms

KCC3, gaxp

MMRRC Submission

068848-MU

Accession Numbers

Essential gene?

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

Stock #

R9018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112096659-112193508 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 112174585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124314 (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

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 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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,918,532 (GRCm39)	E1552G	probably damaging	Het
Abca14	A	T	7: 119,888,763 (GRCm39)	K1236N	probably benign	Het
Adam3	A	T	8: 25,184,292 (GRCm39)	Y569*	probably null	Het
Adgrb2	A	G	4: 129,907,659 (GRCm39)	T998A	probably benign	Het
Adgre4	T	A	17: 56,098,993 (GRCm39)	H166Q	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Ankrd11	A	G	8: 123,622,251 (GRCm39)	S534P	probably damaging	Het
Atn1	C	T	6: 124,722,661 (GRCm39)	E805K	unknown	Het
Bsn	T	C	9: 107,994,488 (GRCm39)	T596A	probably benign	Het
Cacnb4	C	T	2: 52,324,706 (GRCm39)	R452Q	probably benign	Het
Cdc123	C	A	2: 5,849,683 (GRCm39)	A13S	probably benign	Het
Chd7	G	A	4: 8,847,083 (GRCm39)	G1609S	possibly damaging	Het
Cp	T	A	3: 20,043,316 (GRCm39)	C1035S	probably damaging	Het
Dcaf1	T	A	9: 106,742,836 (GRCm39)	C1383S	probably damaging	Het
Derl3	G	A	10: 75,729,604 (GRCm39)	V54I	probably benign	Het
Dgcr6	T	C	16: 17,884,607 (GRCm39)	L25P	probably damaging	Het
Dmrt2	A	G	19: 25,650,985 (GRCm39)	E57G	probably benign	Het
Dnaaf11	A	T	15: 66,321,479 (GRCm39)	S221T	probably benign	Het
Dst	A	G	1: 34,235,140 (GRCm39)	K3562E	probably damaging	Het
Dyrk2	T	C	10: 118,696,014 (GRCm39)	T415A	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbln1	T	C	15: 85,126,215 (GRCm39)	I484T	probably damaging	Het
Greb1l	T	A	18: 10,542,004 (GRCm39)	D1250E	possibly damaging	Het
Ift88	A	C	14: 57,675,702 (GRCm39)	K72Q	probably benign	Het
Impg1	T	A	9: 80,301,474 (GRCm39)	I228F	probably benign	Het
Itsn2	A	G	12: 4,708,091 (GRCm39)	N799S	possibly damaging	Het
Jade1	T	A	3: 41,564,292 (GRCm39)	C521S	probably benign	Het
Katna1	T	G	10: 7,637,040 (GRCm39)	L397R	probably damaging	Het
Kcnj15	A	C	16: 95,097,129 (GRCm39)	K250N	probably damaging	Het
Macc1	A	G	12: 119,409,941 (GRCm39)	I236M	possibly damaging	Het
Mapk13	C	T	17: 28,996,760 (GRCm39)	R276C	probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mindy4	C	T	6: 55,278,072 (GRCm39)	H639Y	possibly damaging	Het
Mphosph9	A	G	5: 124,436,713 (GRCm39)	S544P	probably benign	Het
Muc4	T	C	16: 32,582,910 (GRCm39)	Y492H		Het
Mybbp1a	C	T	11: 72,334,420 (GRCm39)	T225I	probably benign	Het
Myo6	A	T	9: 80,159,086 (GRCm39)	K285I	unknown	Het
Nmd3	G	A	3: 69,647,328 (GRCm39)	V277I	probably benign	Het
Nol9	G	C	4: 152,123,918 (GRCm39)	R36P	probably damaging	Het
Nom1	A	G	5: 29,639,712 (GRCm39)	R13G	possibly damaging	Het
Nudt14	G	A	12: 112,902,906 (GRCm39)	H40Y	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or5b118	A	T	19: 13,448,721 (GRCm39)	H87L	possibly damaging	Het
Or8d1b	T	A	9: 38,887,687 (GRCm39)	F238L	probably benign	Het
Pcnx4	T	A	12: 72,603,437 (GRCm39)	F492I	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pgghg	A	G	7: 140,524,579 (GRCm39)	I309V	probably benign	Het
Phf12	C	T	11: 77,914,510 (GRCm39)	P651S	possibly damaging	Het
Pltp	A	G	2: 164,694,410 (GRCm39)	L199P	probably damaging	Het
Pole	T	A	5: 110,437,675 (GRCm39)	L78I	probably benign	Het
Ppm1d	C	A	11: 85,227,961 (GRCm39)	H292Q	probably damaging	Het
Ppp2cb	A	C	8: 34,105,787 (GRCm39)	I224L	probably benign	Het
Rabggta	A	T	14: 55,957,880 (GRCm39)	I171N	probably damaging	Het
Rapgef5	A	G	12: 117,712,132 (GRCm39)	I740V	probably damaging	Het
Rb1cc1	G	A	1: 6,319,490 (GRCm39)	E970K	probably benign	Het
Rnh1	A	T	7: 140,748,544 (GRCm39)	V11D	probably benign	Het
Robo4	C	T	9: 37,315,520 (GRCm39)	T288I	probably benign	Het
Scmh1	A	G	4: 120,362,514 (GRCm39)	D250G	probably benign	Het
Sele	T	A	1: 163,881,248 (GRCm39)	C483S	probably damaging	Het
Slc5a4a	A	G	10: 76,002,546 (GRCm39)	E234G	possibly damaging	Het
Smarca5	A	G	8: 81,431,355 (GRCm39)	L954P	probably damaging	Het
St7	T	A	6: 17,906,494 (GRCm39)	N413K	probably damaging	Het
Stam2	C	T	2: 52,606,463 (GRCm39)	V141I	probably benign	Het
Stim1	C	T	7: 102,060,482 (GRCm39)	T175I	probably benign	Het
Strap	A	G	6: 137,716,811 (GRCm39)	N130S	probably benign	Het
Stxbp2	A	G	8: 3,692,627 (GRCm39)		probably benign	Het
Sult3a2	T	A	10: 33,655,689 (GRCm39)	I97F	probably benign	Het
Tbc1d32	A	T	10: 55,948,693 (GRCm39)	N965K	probably benign	Het
Tle3	T	A	9: 61,319,750 (GRCm39)	I506N	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tvp23a	A	G	16: 10,264,846 (GRCm39)	S22P	probably damaging	Het
Vmn2r82	A	G	10: 79,232,539 (GRCm39)	N846S	probably damaging	Het
Vmn2r83	A	G	10: 79,316,020 (GRCm39)	N472S	probably damaging	Het
Xpo7	G	A	14: 70,944,864 (GRCm39)	Q10*	probably null	Het
Zfp423	G	C	8: 88,508,381 (GRCm39)	S654R	probably benign	Het
Zfp646	A	T	7: 127,478,243 (GRCm39)	H140L	probably benign	Het
Zfp719	C	A	7: 43,233,489 (GRCm39)		probably benign	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
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
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'- TACCCCTAGTCTTCAGGATCAG -3'
(R):5'- TCTGTTATGCTGACAGTCAAGG -3'

Sequencing Primer
(F):5'- CCCTAGTCTTCAGGATCAGTATGAAC -3'
(R):5'- GCTGACAGTCAAGGAAATTATTGTTG -3'

Posted On

2022-06-06