Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02039:Slc12a7'

184670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc12a7

Ensembl Gene

ENSMUSG00000017756

Gene Name

solute carrier family 12, member 7

Synonyms

Kcc4

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

73733094-73816754 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 73809094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000017900] [ENSMUST00000017900]

AlphaFold

Q9WVL3

Predicted Effect

probably null
Transcript: ENSMUST00000017900

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	99	113	N/A	INTRINSIC
Pfam:AA_permease	123	308	1e-22	PFAM
low complexity region	390	407	N/A	INTRINSIC
Pfam:AA_permease	410	696	1.5e-40	PFAM
Pfam:SLC12	708	834	4.6e-18	PFAM
Pfam:SLC12	818	1083	2.3e-32	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000017900

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	99	113	N/A	INTRINSIC
Pfam:AA_permease	123	308	1e-22	PFAM
low complexity region	390	407	N/A	INTRINSIC
Pfam:AA_permease	410	696	1.5e-40	PFAM
Pfam:SLC12	708	834	4.6e-18	PFAM
Pfam:SLC12	818	1083	2.3e-32	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000017900

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	99	113	N/A	INTRINSIC
Pfam:AA_permease	123	308	1e-22	PFAM
low complexity region	390	407	N/A	INTRINSIC
Pfam:AA_permease	410	696	1.5e-40	PFAM
Pfam:SLC12	708	834	4.6e-18	PFAM
Pfam:SLC12	818	1083	2.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223454

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,297,193	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,972,267	I1323T	probably benign	Het
C87436	A	G	6: 86,453,695	M366V	probably benign	Het
Cep290	T	C	10: 100,514,602		probably null	Het
Cpsf3	T	C	12: 21,301,456	M326T	probably damaging	Het
Cpxm2	A	G	7: 132,047,753	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,478,594	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,875,021	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,764,027		probably null	Het
Dnah2	T	A	11: 69,499,212	I736F	probably damaging	Het
Erf	T	C	7: 25,244,544	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,719	V1482A	probably benign	Het
Fmn1	T	C	2: 113,365,080	L375P	unknown	Het
Foxm1	T	C	6: 128,369,360	Y85H	probably damaging	Het
Frem3	A	G	8: 80,612,971	E631G	probably damaging	Het
Fsip1	T	C	2: 118,240,414	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,864,486	Q330*	probably null	Het
Grin1	C	T	2: 25,305,342	V246M	probably damaging	Het
Ifitm3	C	A	7: 141,010,650		probably benign	Het
Igdcc3	G	A	9: 65,183,880	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,578,594	I87T	probably benign	Het
Imp4	G	A	1: 34,443,768		probably null	Het
Ino80	T	C	2: 119,380,073	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,233,867	I830V	possibly damaging	Het
Mgea5	A	T	19: 45,773,703	V237E	probably damaging	Het
Muc5b	A	G	7: 141,871,164	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,522,110	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995		probably benign	Het
Nup35	T	C	2: 80,642,775	M64T	probably benign	Het
Nxpe2	T	A	9: 48,319,659	N470I	probably benign	Het
Olfr109	T	A	17: 37,466,449	I81N	possibly damaging	Het
Olfr1502	C	T	19: 13,862,719	Q309*	probably null	Het
Os9	G	A	10: 127,096,291	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,105,032	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,435,368		probably null	Het
Pola2	A	T	19: 5,948,469	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,515,994	R15*	probably null	Het
Prpf40a	T	C	2: 53,144,803	D749G	probably damaging	Het
Rhoh	T	C	5: 65,892,638	S84P	probably damaging	Het
Slc37a2	A	G	9: 37,233,684	I454T	probably damaging	Het
Smarca2	A	G	19: 26,716,137	D28G	probably damaging	Het
Socs4	T	C	14: 47,290,193	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980		probably null	Het
Thbd	T	C	2: 148,406,542	T469A	probably benign	Het
Thoc5	T	C	11: 4,922,027		probably null	Het
Vmn1r173	G	T	7: 23,702,896	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,454,381	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,556,189	E408G	probably damaging	Het
Yars	A	T	4: 129,215,259	I428F	probably damaging	Het
Zglp1	T	C	9: 21,067,039	E14G	possibly damaging	Het

Other mutations in Slc12a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Slc12a7	APN	13	73794082	missense	possibly damaging	0.77
IGL01086:Slc12a7	APN	13	73814843	missense	probably damaging	1.00
IGL01344:Slc12a7	APN	13	73792737	missense	probably damaging	1.00
IGL01739:Slc12a7	APN	13	73799614	missense	probably benign	0.00
IGL02213:Slc12a7	APN	13	73797703	critical splice donor site	probably null
IGL02285:Slc12a7	APN	13	73795595	unclassified	probably benign
IGL02422:Slc12a7	APN	13	73806161	missense	probably benign	0.18
IGL02423:Slc12a7	APN	13	73763763	utr 5 prime	probably benign
IGL02596:Slc12a7	APN	13	73785123	missense	probably benign	0.01
IGL02794:Slc12a7	APN	13	73809087	missense	possibly damaging	0.68
IGL02813:Slc12a7	APN	13	73813676	unclassified	probably benign
IGL02868:Slc12a7	APN	13	73806388	missense	probably benign
R0828:Slc12a7	UTSW	13	73788652	missense	probably benign	0.03
R1440:Slc12a7	UTSW	13	73801008	missense	probably damaging	1.00
R1659:Slc12a7	UTSW	13	73790671	missense	probably damaging	1.00
R1669:Slc12a7	UTSW	13	73795113	missense	probably benign	0.00
R2111:Slc12a7	UTSW	13	73785155	nonsense	probably null
R3023:Slc12a7	UTSW	13	73800422	missense	probably benign	0.07
R3612:Slc12a7	UTSW	13	73809923	missense	probably benign	0.30
R4210:Slc12a7	UTSW	13	73814843	missense	probably damaging	1.00
R4353:Slc12a7	UTSW	13	73790734	missense	possibly damaging	0.63
R4761:Slc12a7	UTSW	13	73813589	missense	probably benign	0.06
R4801:Slc12a7	UTSW	13	73763892	critical splice donor site	probably null
R4802:Slc12a7	UTSW	13	73763892	critical splice donor site	probably null
R5002:Slc12a7	UTSW	13	73763777	missense	possibly damaging	0.66
R5128:Slc12a7	UTSW	13	73805433	missense	probably benign	0.03
R5594:Slc12a7	UTSW	13	73785139	missense	probably benign
R5760:Slc12a7	UTSW	13	73813622	missense	probably damaging	1.00
R5854:Slc12a7	UTSW	13	73793940	missense	probably benign	0.03
R6233:Slc12a7	UTSW	13	73805471	missense	possibly damaging	0.63
R6693:Slc12a7	UTSW	13	73797537	missense	probably benign	0.00
R6782:Slc12a7	UTSW	13	73798969	missense	probably damaging	0.99
R7169:Slc12a7	UTSW	13	73784560	missense	probably benign	0.30
R7225:Slc12a7	UTSW	13	73763962	intron	probably benign
R7458:Slc12a7	UTSW	13	73785069	missense	probably damaging	1.00
R7534:Slc12a7	UTSW	13	73764068	intron	probably benign
R7565:Slc12a7	UTSW	13	73790772	missense	possibly damaging	0.58
R7660:Slc12a7	UTSW	13	73806089	missense	probably benign
R7737:Slc12a7	UTSW	13	73788677	missense	probably benign	0.01
R7783:Slc12a7	UTSW	13	73805469	missense	probably benign	0.44
R7875:Slc12a7	UTSW	13	73788604	missense	possibly damaging	0.94
R8017:Slc12a7	UTSW	13	73799720	missense	probably damaging	1.00
R8019:Slc12a7	UTSW	13	73799720	missense	probably damaging	1.00
R8281:Slc12a7	UTSW	13	73790677	missense	probably damaging	1.00
R8342:Slc12a7	UTSW	13	73785162	missense	probably benign
R8747:Slc12a7	UTSW	13	73785122	missense	probably benign	0.30
R8920:Slc12a7	UTSW	13	73798449	missense	probably damaging	1.00
R9292:Slc12a7	UTSW	13	73784588	missense	possibly damaging	0.46
R9381:Slc12a7	UTSW	13	73800944	missense	probably benign	0.00
R9400:Slc12a7	UTSW	13	73784570	missense	probably benign	0.00
X0023:Slc12a7	UTSW	13	73788608	missense	possibly damaging	0.94
X0028:Slc12a7	UTSW	13	73798541	splice site	probably null
X0065:Slc12a7	UTSW	13	73800945	missense	probably benign	0.02

Posted On

2014-05-07