Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02596:Slc12a7'

299870

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 #

IGL02596

Quality Score

Status

Chromosome

Chromosomal Location

73733094-73816754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73785123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 100 (V100E)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000220535]

AlphaFold

Q9WVL3

Predicted Effect

probably benign
Transcript: ENSMUST00000017900
AA Change: V100E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: V100E

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

probably benign
Transcript: ENSMUST00000220535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222742

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	T	G	4: 73,950,667	Q11H	possibly damaging	Het
4931408C20Rik	T	A	1: 26,684,002	H699L	probably benign	Het
Armcx5	T	A	X: 135,746,519	I448K	probably damaging	Het
Atp4b	T	A	8: 13,393,471	Y69F	possibly damaging	Het
Ccdc7b	T	A	8: 129,072,478	V12E	probably benign	Het
Cdc5l	C	A	17: 45,424,604		probably benign	Het
Clptm1l	C	T	13: 73,613,666	R330C	probably benign	Het
Cpq	C	T	15: 33,213,014	R60W	probably damaging	Het
Cpvl	T	C	6: 53,932,010	Y256C	probably damaging	Het
Cryzl2	A	T	1: 157,464,969	D107V	probably damaging	Het
Cyp2e1	G	A	7: 140,770,118	V239M	probably damaging	Het
Cyp2j7	T	A	4: 96,215,422	D292V	possibly damaging	Het
Dcaf1	A	G	9: 106,863,021	Y1202C	probably damaging	Het
Dnah3	T	C	7: 119,938,914	N3616S	probably benign	Het
Enam	A	G	5: 88,503,026	D723G	probably benign	Het
Eps8l1	G	A	7: 4,470,872	R226H	probably damaging	Het
Erich2	A	G	2: 70,512,803		probably benign	Het
Esyt3	A	C	9: 99,328,015	L271V	probably benign	Het
Fer1l4	T	C	2: 156,039,132	N838S	probably benign	Het
Gad1	T	C	2: 70,594,684	Y441H	probably damaging	Het
Gja1	G	T	10: 56,388,252	V236F	possibly damaging	Het
Gpr156	T	C	16: 37,978,724	I100T	probably benign	Het
Hace1	A	G	10: 45,700,640	T803A	possibly damaging	Het
Jagn1	G	A	6: 113,447,601	V145I	probably benign	Het
Kdm4b	C	A	17: 56,399,706	T899K	probably benign	Het
Klk1b8	G	A	7: 43,952,763	V40M	probably damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mast1	G	T	8: 84,917,771	A843E	probably benign	Het
Mbd1	T	A	18: 74,276,797		probably benign	Het
Mdga1	A	G	17: 29,832,405		probably benign	Het
Mlh3	A	G	12: 85,240,958		probably null	Het
Olfr1115	C	A	2: 87,252,129	T64K	probably damaging	Het
Olfr1463	A	T	19: 13,234,399	I50F	probably damaging	Het
Pwp1	A	G	10: 85,872,018		probably null	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tgfb1i1	T	A	7: 128,248,896	M1K	probably null	Het
Tubgcp6	T	A	15: 89,100,914	E1657V	probably damaging	Het
Zfp770	A	G	2: 114,195,827	V587A	probably benign	Het
Zxdc	A	G	6: 90,373,709		probably null	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
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

2015-04-16