Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02868:Slc12a7'

362408

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 #

IGL02868

Quality Score

Status

Chromosome

Chromosomal Location

73733094-73816754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73806388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 897 (M897K)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

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

AlphaFold

Q9WVL3

Predicted Effect

probably benign
Transcript: ENSMUST00000017900
AA Change: M897K

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

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: M897K

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: ENSMUST00000220686

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap4	A	G	X: 73,900,402	I224T	probably benign	Het
Atp12a	A	G	14: 56,384,182	D758G	probably damaging	Het
Clca3b	C	A	3: 144,827,564	G569V	probably damaging	Het
Dlgap4	G	A	2: 156,700,896	R73Q	probably damaging	Het
Efcc1	C	T	6: 87,751,761		probably benign	Het
Eno3	T	A	11: 70,662,000	V369E	probably damaging	Het
Espl1	T	A	15: 102,313,990	C1022*	probably null	Het
Gm884	A	T	11: 103,615,139	L2001H	probably benign	Het
Grhl3	T	C	4: 135,554,604	D319G	probably damaging	Het
Huwe1	G	A	X: 151,908,833	R2538H	possibly damaging	Het
Ms4a4d	T	A	19: 11,550,282	I51N	probably damaging	Het
Mtmr9	T	C	14: 63,524,139	N522S	probably benign	Het
Nfe2l1	A	G	11: 96,820,140	I133T	probably damaging	Het
Ninl	A	G	2: 150,937,054	Y1296H	probably benign	Het
Nipal3	A	G	4: 135,466,871	S284P	probably damaging	Het
Olfr1009	A	T	2: 85,721,575	T57S	probably benign	Het
Olfr1286	A	T	2: 111,420,493	F153I	possibly damaging	Het
Pramel5	G	T	4: 144,271,352	N440K	probably benign	Het
Rabep1	T	C	11: 70,874,746	V12A	probably benign	Het
Rbm5	G	T	9: 107,749,700		probably benign	Het
Ric3	T	C	7: 109,054,419	E155G	probably damaging	Het
Slc39a8	G	T	3: 135,856,026	A169S	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Synrg	G	A	11: 83,987,050		probably benign	Het
Tas2r107	T	C	6: 131,659,286	T267A	probably benign	Het
Tead3	G	T	17: 28,333,095	Y354*	probably null	Het
Trim3	T	C	7: 105,613,032	K579R	possibly damaging	Het
Uaca	A	T	9: 60,863,637	K362M	probably damaging	Het
Vmn2r94	A	G	17: 18,244,054	I658T	possibly damaging	Het
Vps13b	C	T	15: 35,884,519	P3113S	probably benign	Het
Zfp251	A	G	15: 76,854,534	S115P	probably damaging	Het
Zfp683	G	A	4: 134,055,866	V214M	probably benign	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
IGL02039:Slc12a7	APN	13	73809094	critical splice donor site	probably null
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
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

2015-12-18