Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01086:Slc12a7'

52551

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01086

Quality Score

Status

Chromosome

Chromosomal Location

73733094-73816754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73814843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1054 (Y1054C)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000022051] [ENSMUST00000118096]

AlphaFold

Q9WVL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000017900
AA Change: Y1054C

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

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: Y1054C

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 benign
Transcript: ENSMUST00000022051

SMART Domains

Protein: ENSMUSP00000022051
Gene: ENSMUSG00000021567

Domain	Start	End	E-Value	Type
SCOP:d1alva_	133	160	7e-3	SMART
low complexity region	341	358	N/A	INTRINSIC
low complexity region	380	390	N/A	INTRINSIC
low complexity region	441	459	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118096

SMART Domains

Protein: ENSMUSP00000113794
Gene: ENSMUSG00000021567

Domain	Start	End	E-Value	Type
SCOP:d1alva_	121	148	7e-3	SMART
low complexity region	329	346	N/A	INTRINSIC
low complexity region	368	378	N/A	INTRINSIC
low complexity region	429	447	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222309

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,648,863	R104S	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Aim2	A	G	1: 173,455,433	Y27C	probably damaging	Het
Apol7b	T	C	15: 77,423,914	E127G	probably damaging	Het
Atp10a	T	C	7: 58,824,318	F1118L	probably damaging	Het
Cacna1e	T	C	1: 154,471,601	D940G	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Clip4	G	A	17: 71,824,794	V376I	probably benign	Het
Coro6	C	A	11: 77,466,548	C194*	probably null	Het
Crebbp	T	C	16: 4,179,552	M223V	probably benign	Het
Dkk4	T	A	8: 22,626,841	C157S	probably damaging	Het
Dnah14	T	C	1: 181,752,046	L3048S	probably benign	Het
Dscaml1	T	C	9: 45,702,662		probably benign	Het
Gpr1	T	C	1: 63,183,491	E195G	probably benign	Het
Gria2	T	C	3: 80,692,381	Y732C	probably damaging	Het
Igkv4-59	T	C	6: 69,438,723	I7V	probably benign	Het
Lamc3	T	C	2: 31,898,476	F216S	probably damaging	Het
Lcn6	T	C	2: 25,680,780	F61L	probably benign	Het
Nup205	T	A	6: 35,208,936		probably benign	Het
Olfr1143	T	A	2: 87,803,200	Y266*	probably null	Het
Otof	C	T	5: 30,376,273		probably null	Het
Pik3c2b	T	C	1: 133,091,618	C1035R	probably damaging	Het
Pla1a	T	C	16: 38,407,622	N298D	probably benign	Het
Poteg	T	A	8: 27,473,620		probably benign	Het
Pwp1	T	C	10: 85,879,893		probably null	Het
Scel	A	G	14: 103,612,391	I631V	probably benign	Het
Scn3a	T	A	2: 65,470,159	M1288L	probably benign	Het
Serpina11	T	A	12: 103,986,070	D147V	probably damaging	Het
Shroom3	T	A	5: 92,948,452	C1266S	probably benign	Het
Srms	A	G	2: 181,212,423	V117A	probably damaging	Het
Tmem161b	T	C	13: 84,222,422		probably benign	Het
Tmem94	A	T	11: 115,790,284	T158S	probably benign	Het
Tomm40l	T	C	1: 171,220,309		probably null	Het
Traf6	A	G	2: 101,684,783	I95V	probably benign	Het
Ttc13	A	G	8: 124,675,346	I686T	probably damaging	Het
Zmat2	C	T	18: 36,796,110	H104Y	probably 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
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
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
R9069:Slc12a7	UTSW	13	73805970	intron	probably benign
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
R9521:Slc12a7	UTSW	13	73798968	missense	probably benign	0.38
R9687:Slc12a7	UTSW	13	73790677	missense	probably damaging	1.00
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

2013-06-21